-
1
-
-
70349113034
-
Determination of glycosylation sites and site-specific heterogeneity in glycoproteins
-
An HJ, Froehlich JW, Lebrilla CB. Determination of glycosylation sites and site-specific heterogeneity in glycoproteins. Curr Opin Chem Biol. 2009;13:421-426.
-
(2009)
Curr Opin Chem Biol
, vol.13
, pp. 421-426
-
-
An, H.J.1
Froehlich, J.W.2
Lebrilla, C.B.3
-
2
-
-
84862168794
-
Structural analysis of N- and O-glycans released from glycoproteins
-
Jensen PH, Karlsson NG, Kolarich D, Packer NH. Structural analysis of N- and O-glycans released from glycoproteins. Nat Protoc. 2012;7:1299-1310.
-
(2012)
Nat Protoc
, vol.7
, pp. 1299-1310
-
-
Jensen, P.H.1
Karlsson, N.G.2
Kolarich, D.3
Packer, N.H.4
-
3
-
-
0142031495
-
Role of N-linked glycan in the unfolding pathway of Erythrina corallodendron lectin
-
Mitra N, Sharon N, Surolia A. Role of N-linked glycan in the unfolding pathway of Erythrina corallodendron lectin. Biochemistry. 2003;42(42):12208-12216. https://doi.org/10.1021/BI035169E.
-
(2003)
Biochemistry
, vol.42
, Issue.42
, pp. 12208-12216
-
-
Mitra, N.1
Sharon, N.2
Surolia, A.3
-
4
-
-
0023803332
-
Human T-lymphocyte activation is associated with changes in O-glycan biosynthesis
-
Piller F, Piller V, Fox RI, Fukuda M. Human T-lymphocyte activation is associated with changes in O-glycan biosynthesis. J Biol Chem. 1988;263:15146-15150.
-
(1988)
J Biol Chem
, vol.263
, pp. 15146-15150
-
-
Piller, F.1
Piller, V.2
Fox, R.I.3
Fukuda, M.4
-
5
-
-
21744447192
-
The glycan code of the endoplasmic reticulum: asparagine-linked carbohydrates as protein maturation and quality-control tags
-
Hebert DN, Garman SC, Molinari M. The glycan code of the endoplasmic reticulum: asparagine-linked carbohydrates as protein maturation and quality-control tags. Trends Cell Biol. 2005;15:364-370.
-
(2005)
Trends Cell Biol
, vol.15
, pp. 364-370
-
-
Hebert, D.N.1
Garman, S.C.2
Molinari, M.3
-
6
-
-
0025646750
-
Physicochemical and biological characterization of asialoerythropoietin. Suppressive effects of sialic acid in the expression of biological activity of human erythropoietin in vitro
-
Imai N et al. Physicochemical and biological characterization of asialoerythropoietin. Suppressive effects of sialic acid in the expression of biological activity of human erythropoietin in vitro. Eur J Biochem. 1990;194:457-462.
-
(1990)
Eur J Biochem
, vol.194
, pp. 457-462
-
-
Imai, N.1
-
7
-
-
0004106191
-
-
Cold Spring Harbor, NY, Cold Spring Harbor Laboratory Press
-
Varki A, Sharon N. Essentials of Glycobiology. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press; 2009.
-
(2009)
Essentials of Glycobiology
-
-
Varki, A.1
Sharon, N.2
-
8
-
-
85026891465
-
The sugar code: why glycans are so important
-
Gabius HJ. The sugar code: why glycans are so important. Biosystems. 2018;164:102-111.
-
(2018)
Biosystems
, vol.164
, pp. 102-111
-
-
Gabius, H.J.1
-
9
-
-
85014440279
-
Biological roles of glycans
-
Varki A. Biological roles of glycans. Glycobiology. 2017;27:3-49.
-
(2017)
Glycobiology
, vol.27
, pp. 3-49
-
-
Varki, A.1
-
11
-
-
85048250230
-
Linking glycation and glycosylation with inflammation and mitochondrial dysfunction in Parkinson's disease
-
Videira PAQ, Castro-Caldas M. Linking glycation and glycosylation with inflammation and mitochondrial dysfunction in Parkinson's disease. Front Neurosci. 2018;12(381).
-
(2018)
Front Neurosci
, vol.12
, Issue.381
-
-
Videira, P.A.Q.1
Castro-Caldas, M.2
-
12
-
-
79955701910
-
Scraping fibrosis: expressway to the core of fibrosis
-
Mehal WZ, Iredale J, Friedman SL. Scraping fibrosis: expressway to the core of fibrosis. Nat Med. 2011;17:552-553.
-
(2011)
Nat Med
, vol.17
, pp. 552-553
-
-
Mehal, W.Z.1
Iredale, J.2
Friedman, S.L.3
-
13
-
-
84942133787
-
N-glycosylation controls the function of junctional adhesion molecule-A
-
Scott DW, Tolbert CE, Graham DM, Wittchen E, Bear JE, Burridge K. N-glycosylation controls the function of junctional adhesion molecule-A. Mol Biol Cell. 2015;26:3205-3214.
-
(2015)
Mol Biol Cell
, vol.26
, pp. 3205-3214
-
-
Scott, D.W.1
Tolbert, C.E.2
Graham, D.M.3
Wittchen, E.4
Bear, J.E.5
Burridge, K.6
-
14
-
-
85119038728
-
Glycans instructing immunity: the emerging role of altered glycosylation in clinical immunology
-
Lyons JJ, Rosenzweig SD, Milner JD, Rosenzweig SD. Glycans instructing immunity: the emerging role of altered glycosylation in clinical immunology. Front Pediatr. 2015;3(54).
-
(2015)
Front Pediatr
, vol.3
, Issue.54
-
-
Lyons, J.J.1
Rosenzweig, S.D.2
Milner, J.D.3
Rosenzweig, S.D.4
-
15
-
-
85045261142
-
Recognizable phenotypes in CDG
-
Ferreira CR, Altassan R, Marques-da-Silva D, Francisco R, Jaeken J, Morava E. Recognizable phenotypes in CDG. J Inherit Metab Dis. 2018;41:541-553.
-
(2018)
J Inherit Metab Dis
, vol.41
, pp. 541-553
-
-
Ferreira, C.R.1
Altassan, R.2
Marques-da-Silva, D.3
Francisco, R.4
Jaeken, J.5
Morava, E.6
-
16
-
-
85006151127
-
Glycosylation: a hallmark of cancer?
-
Vajaria BN, Patel PS. Glycosylation: a hallmark of cancer? Glycoconj J. 2017;34:147-156.
-
(2017)
Glycoconj J
, vol.34
, pp. 147-156
-
-
Vajaria, B.N.1
Patel, P.S.2
-
17
-
-
84866133371
-
Pathogenesis of multiple sclerosis via environmental and genetic dysregulation of N-glycosylation
-
Grigorian A, Mkhikian H, Li CF, Newton BL, Zhou RW, Demetriou M. Pathogenesis of multiple sclerosis via environmental and genetic dysregulation of N-glycosylation. Semin Immunopathol. 2012;34:415-424.
-
(2012)
Semin Immunopathol
, vol.34
, pp. 415-424
-
-
Grigorian, A.1
Mkhikian, H.2
Li, C.F.3
Newton, B.L.4
Zhou, R.W.5
Demetriou, M.6
-
19
-
-
0032763425
-
Correction of leukocyte adhesion deficiency type II with oral fucose
-
Marquardt T, et al. Correction of leukocyte adhesion deficiency type II with oral fucose. Blood. 1999;94(12):3976-3985.
-
(1999)
Blood
, vol.94
, Issue.12
, pp. 3976-3985
-
-
Marquardt, T.1
-
20
-
-
84978113399
-
Immunological aspects of congenital disorders of glycosylation (CDG): a review
-
Monticelli M, Ferro T, Jaeken J, dos Reis Ferreira V, Videira PA. Immunological aspects of congenital disorders of glycosylation (CDG): a review. J Inherit Metab Dis. 2016;39:765-780.
-
(2016)
J Inherit Metab Dis
, vol.39
, pp. 765-780
-
-
Monticelli, M.1
Ferro, T.2
Jaeken, J.3
dos Reis Ferreira, V.4
Videira, P.A.5
-
22
-
-
85057432575
-
Glycans as key checkpoints of T cell activity and function
-
Pereira MS, Alves I, Vicente M, et al. Glycans as key checkpoints of T cell activity and function. Front Immunol. 2018;9:2754.
-
(2018)
Front Immunol
, vol.9
, pp. 2754
-
-
Pereira, M.S.1
Alves, I.2
Vicente, M.3
-
23
-
-
85066981625
-
The human immune response
-
Amsterdam, The Netherlands, Content Repository Only!
-
Chaplin DD. The human immune response. Clinical Immunology. Amsterdam, The Netherlands: Content Repository Only! 2019. https://doi.org/10.1016/B978-0-7020-6896-6.00001-6.
-
(2019)
Clinical Immunology
-
-
Chaplin, D.D.1
-
24
-
-
85048086943
-
Sialylated autoantigen-reactive IgG antibodies attenuate disease development in autoimmune mouse models of lupus nephritis and rheumatoid arthritis
-
Bartsch YC, Rahmöller J, Mertes MMM, et al. Sialylated autoantigen-reactive IgG antibodies attenuate disease development in autoimmune mouse models of lupus nephritis and rheumatoid arthritis. Front Immunol. 2018;9(1183).
-
(2018)
Front Immunol
, vol.9
, Issue.1183
-
-
Bartsch, Y.C.1
Rahmöller, J.2
Mertes, M.M.M.3
-
25
-
-
85048803916
-
Differences in IgG Fc glycosylation are associated with outcome of pediatric meningococcal sepsis
-
de Haan N et al. Differences in IgG Fc glycosylation are associated with outcome of pediatric meningococcal sepsis. MBio. 2018;9:1-13.
-
(2018)
MBio
, vol.9
, pp. 1-13
-
-
de Haan, N.1
-
26
-
-
84860297165
-
Preparation, crystallization and preliminary X-ray diffraction studies of the glycosylated form of human interleukin-23
-
Shirouzono T, Chirifu M, Nakamura C, Yamagata Y, Ikemizu S. Preparation, crystallization and preliminary X-ray diffraction studies of the glycosylated form of human interleukin-23. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2012;68:432-435.
-
(2012)
Acta Crystallogr Sect F Struct Biol Cryst Commun
, vol.68
, pp. 432-435
-
-
Shirouzono, T.1
Chirifu, M.2
Nakamura, C.3
Yamagata, Y.4
Ikemizu, S.5
-
27
-
-
0035451107
-
Human IgA activates the complement system via the Mannan-binding lectin pathway
-
Roos A, Bouwman LH, van Gijlswijk-Janssen DJ, Faber-Krol MC, Stahl GL, Daha MR. Human IgA activates the complement system via the Mannan-binding lectin pathway. J Immunol. 2001;167:2861-2868.
-
(2001)
J Immunol
, vol.167
, pp. 2861-2868
-
-
Roos, A.1
Bouwman, L.H.2
van Gijlswijk-Janssen, D.J.3
Faber-Krol, M.C.4
Stahl, G.L.5
Daha, M.R.6
-
28
-
-
0033607744
-
Identification of the C3b binding site in a recombinant vWF-A domain of complement factor B by surface-enhanced laser desorption-ionisation affinity mass spectrometry and homology modelling: implications for the activity of factor B
-
Hinshelwood J, Spencer DIR, Edwards YJK, Perkins SJ. Identification of the C3b binding site in a recombinant vWF-A domain of complement factor B by surface-enhanced laser desorption-ionisation affinity mass spectrometry and homology modelling: implications for the activity of factor B. J Mol Biol. 1999;294:587-599.
-
(1999)
J Mol Biol
, vol.294
, pp. 587-599
-
-
Hinshelwood, J.1
Spencer, D.I.R.2
Edwards, Y.J.K.3
Perkins, S.J.4
-
29
-
-
85010032135
-
Studies on the detection, expression, glycosylation, dimerization, and ligand binding properties of mouse Siglec-E
-
Siddiqui S, Schwarz F, Springer S, et al. Studies on the detection, expression, glycosylation, dimerization, and ligand binding properties of mouse Siglec-E. J Biol Chem. 2017;292:1029-1037.
-
(2017)
J Biol Chem
, vol.292
, pp. 1029-1037
-
-
Siddiqui, S.1
Schwarz, F.2
Springer, S.3
-
30
-
-
84971439455
-
Distinct CCR7 glycosylation pattern shapes receptor signaling and endocytosis to modulate chemotactic responses
-
Hauser MA, Kindinger I, Laufer JM, et al. Distinct CCR7 glycosylation pattern shapes receptor signaling and endocytosis to modulate chemotactic responses. J Leukoc Biol. 2016;99:993-1007.
-
(2016)
J Leukoc Biol
, vol.99
, pp. 993-1007
-
-
Hauser, M.A.1
Kindinger, I.2
Laufer, J.M.3
-
31
-
-
84903388655
-
Glycosylation inhibitors efficiently inhibit P-selectin-mediated cell adhesion to endothelial cells
-
Ghoshal P, Rajendran M, Odo N, Ikuta T. Glycosylation inhibitors efficiently inhibit P-selectin-mediated cell adhesion to endothelial cells. PLoS One. 2014;9:e99363.
-
(2014)
PLoS One
, vol.9
-
-
Ghoshal, P.1
Rajendran, M.2
Odo, N.3
Ikuta, T.4
-
32
-
-
84880155914
-
Identification of a high-mannose ICAM-1 glycoform: effects of ICAM-1 hypoglycosylation on monocyte adhesion and outside in signaling
-
Scott DW, Dunn TS, Ballestas ME, Litovsky SH, Patel RP. Identification of a high-mannose ICAM-1 glycoform: effects of ICAM-1 hypoglycosylation on monocyte adhesion and outside in signaling. Am. J. Physiol. Physiol. 2013;305:C228-C237.
-
(2013)
Am. J. Physiol. Physiol.
, vol.305
, pp. C228-C237
-
-
Scott, D.W.1
Dunn, T.S.2
Ballestas, M.E.3
Litovsky, S.H.4
Patel, R.P.5
-
33
-
-
77956354082
-
Intrapersonal and Populational heterogeneity of the chemokine RANTES
-
Oran PE, Sherma ND, Borges CR, Jarvis JW, Nelson RW. Intrapersonal and Populational heterogeneity of the chemokine RANTES. Clin Chem. 2010;56:1432-1441.
-
(2010)
Clin Chem
, vol.56
, pp. 1432-1441
-
-
Oran, P.E.1
Sherma, N.D.2
Borges, C.R.3
Jarvis, J.W.4
Nelson, R.W.5
-
34
-
-
0026509588
-
P pili in uropathogenic E. coli are composite fibres with distinct fibrillar adhesive tips
-
Kuehn MJ, Heuser J, Normark S, Hultgren SJ. P pili in uropathogenic E. coli are composite fibres with distinct fibrillar adhesive tips. Nature. 1992;356:252-255.
-
(1992)
Nature
, vol.356
, pp. 252-255
-
-
Kuehn, M.J.1
Heuser, J.2
Normark, S.3
Hultgren, S.J.4
-
35
-
-
55849106604
-
Cell surface O-glycans limit Staphylococcus aureus adherence to corneal epithelial cells
-
Ricciuto J, Heimer SR, Gilmore MS, Argüeso P. Cell surface O-glycans limit Staphylococcus aureus adherence to corneal epithelial cells. Infect Immun. 2008;76:5215-5220.
-
(2008)
Infect Immun
, vol.76
, pp. 5215-5220
-
-
Ricciuto, J.1
Heimer, S.R.2
Gilmore, M.S.3
Argüeso, P.4
-
36
-
-
85016240778
-
Core-fucosylation plays a pivotal role in hepatitis B pseudo virus infection: a possible implication for HBV glycotherapy
-
Takamatsu S et al. Core-fucosylation plays a pivotal role in hepatitis B pseudo virus infection: a possible implication for HBV glycotherapy. Glycobiology. 2016;26:1180-1189.
-
(2016)
Glycobiology
, vol.26
, pp. 1180-1189
-
-
Takamatsu, S.1
-
37
-
-
84903694289
-
Identification of minimum carbohydrate moiety in N-glycosylation sites of brain endothelial cell glycoprotein 96 for interaction with Escherichia coli K1 outer membrane protein a
-
Krishnan S, Prasadarao NV. Identification of minimum carbohydrate moiety in N-glycosylation sites of brain endothelial cell glycoprotein 96 for interaction with Escherichia coli K1 outer membrane protein a. Microbes Infect. 2014;16:540-552.
-
(2014)
Microbes Infect
, vol.16
, pp. 540-552
-
-
Krishnan, S.1
Prasadarao, N.V.2
-
38
-
-
0033947299
-
The key role of Pseudomonas aeruginosa PA-I lectin on experimental gut-derived sepsis
-
Laughlin RS, Musch MW, Hollbrook CJ, Rocha FM, Chang EB, Alverdy JC. The key role of Pseudomonas aeruginosa PA-I lectin on experimental gut-derived sepsis. Ann Surg. 2000;232:133-142.
-
(2000)
Ann Surg
, vol.232
, pp. 133-142
-
-
Laughlin, R.S.1
Musch, M.W.2
Hollbrook, C.J.3
Rocha, F.M.4
Chang, E.B.5
Alverdy, J.C.6
-
39
-
-
65449143628
-
Role of LecA and LecB lectins in Pseudomonas aeruginosa-induced lung injury and effect of carbohydrate ligands
-
Chemani C, Imberty A, de Bentzmann S, et al. Role of LecA and LecB lectins in Pseudomonas aeruginosa-induced lung injury and effect of carbohydrate ligands. Infect Immun. 2009;77:2065-2075.
-
(2009)
Infect Immun
, vol.77
, pp. 2065-2075
-
-
Chemani, C.1
Imberty, A.2
de Bentzmann, S.3
-
40
-
-
74049096170
-
Influenza a: understanding the viral life cycle
-
Samji T. Influenza a: understanding the viral life cycle. Yale J Biol Med. 2009;82:153-159.
-
(2009)
Yale J Biol Med
, vol.82
, pp. 153-159
-
-
Samji, T.1
-
41
-
-
85034854854
-
Infectious entry and neutralization of pathogenic JC polyomaviruses
-
Geoghegan EM, Pastrana DV, Schowalter RM, et al. Infectious entry and neutralization of pathogenic JC polyomaviruses. Cell Rep. 2017;21:1169-1179.
-
(2017)
Cell Rep
, vol.21
, pp. 1169-1179
-
-
Geoghegan, E.M.1
Pastrana, D.V.2
Schowalter, R.M.3
-
43
-
-
85062193673
-
The interaction of the gut microbiota with the mucus barrier in health and disease in human
-
Corfield AP. The interaction of the gut microbiota with the mucus barrier in health and disease in human. Microorganisms. 2018;6:E78.
-
(2018)
Microorganisms
, vol.6
-
-
Corfield, A.P.1
-
44
-
-
85057521600
-
Methicillin-resistant Staphylococcus aureus alters cell wall glycosylation to evade immunity
-
Gerlach D, Guo Y, de Castro C, et al. Methicillin-resistant Staphylococcus aureus alters cell wall glycosylation to evade immunity. Nature. 2018;563:705-709.
-
(2018)
Nature
, vol.563
, pp. 705-709
-
-
Gerlach, D.1
Guo, Y.2
de Castro, C.3
-
45
-
-
85042483801
-
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy
-
Park JH, Hogrebe M, Fobker M, et al. SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy. Genet Med. 2018;20:259-268.
-
(2018)
Genet Med
, vol.20
, pp. 259-268
-
-
Park, J.H.1
Hogrebe, M.2
Fobker, M.3
-
46
-
-
85045214365
-
Genome-wide CRISPR/Cas9 screen identifies host factors essential for influenza virus replication
-
Han J, Perez JT, Chen C, et al. Genome-wide CRISPR/Cas9 screen identifies host factors essential for influenza virus replication. Cell Rep. 2018;23:596-607.
-
(2018)
Cell Rep
, vol.23
, pp. 596-607
-
-
Han, J.1
Perez, J.T.2
Chen, C.3
-
47
-
-
84937564714
-
Viral resistance of MOGS-CDG patients implies a broad-spectrum strategy against acute virus infections
-
Chang J, Block TM, Guo JT. Viral resistance of MOGS-CDG patients implies a broad-spectrum strategy against acute virus infections. Antivir Ther. 2015;20:257-259.
-
(2015)
Antivir Ther
, vol.20
, pp. 257-259
-
-
Chang, J.1
Block, T.M.2
Guo, J.T.3
-
48
-
-
0032742944
-
Roles for glycosylation of cell surface receptors involved in cellular immune recognition
-
Rudd PM, Wormald MR, Stanfield RL, et al. Roles for glycosylation of cell surface receptors involved in cellular immune recognition. J Mol Biol. 1999;293:351-366.
-
(1999)
J Mol Biol
, vol.293
, pp. 351-366
-
-
Rudd, P.M.1
Wormald, M.R.2
Stanfield, R.L.3
-
49
-
-
63049108160
-
Increasing functional avidity of TCR-redirected T cells by removing defined N -glycosylation sites in the TCR constant domain
-
Kuball J, Hauptrock B, Malina V, et al. Increasing functional avidity of TCR-redirected T cells by removing defined N -glycosylation sites in the TCR constant domain. J Exp Med. 2009;206:463-475.
-
(2009)
J Exp Med
, vol.206
, pp. 463-475
-
-
Kuball, J.1
Hauptrock, B.2
Malina, V.3
-
50
-
-
4544287060
-
Four N-linked glycosylation sites in human toll-like receptor 2 cooperate to direct efficient biosynthesis and secretion
-
Weber ANR, Morse MA, Gay NJ. Four N-linked glycosylation sites in human toll-like receptor 2 cooperate to direct efficient biosynthesis and secretion. J Biol Chem. 2004;279:34589-34594.
-
(2004)
J Biol Chem
, vol.279
, pp. 34589-34594
-
-
Weber, A.N.R.1
Morse, M.A.2
Gay, N.J.3
-
51
-
-
33744965385
-
Structural and functional analyses of the human toll-like receptor 3: role of glycosylation
-
Sun J, Duffy KE, Ranjith-Kumar CT, et al. Structural and functional analyses of the human toll-like receptor 3: role of glycosylation. J Biol Chem. 2006;281:11144-11151.
-
(2006)
J Biol Chem
, vol.281
, pp. 11144-11151
-
-
Sun, J.1
Duffy, K.E.2
Ranjith-Kumar, C.T.3
-
52
-
-
0037127309
-
MD-2 and TLR4 N-linked glycosylations are important for a functional lipopolysaccharide receptor
-
da Silva Correia J, Ulevitch RJ. MD-2 and TLR4 N-linked glycosylations are important for a functional lipopolysaccharide receptor. J Biol Chem. 2002;277:1845-1854.
-
(2002)
J Biol Chem
, vol.277
, pp. 1845-1854
-
-
da Silva Correia, J.1
Ulevitch, R.J.2
-
53
-
-
0035825644
-
Negative regulation of T-cell activation and autoimmunity by Mgat5N-glycosylation
-
Demetriou M, Granovsky M, Quaggin S, Dennis JW. Negative regulation of T-cell activation and autoimmunity by Mgat5N-glycosylation. Nature. 2001;409:733-739.
-
(2001)
Nature
, vol.409
, pp. 733-739
-
-
Demetriou, M.1
Granovsky, M.2
Quaggin, S.3
Dennis, J.W.4
-
54
-
-
84991511950
-
Global analysis of O -GlcNAc glycoproteins in activated human T cells
-
Lund PJ, Elias JE, Davis MM. Global analysis of O -GlcNAc glycoproteins in activated human T cells. J Immunol. 2016;197:3086-3098.
-
(2016)
J Immunol
, vol.197
, pp. 3086-3098
-
-
Lund, P.J.1
Elias, J.E.2
Davis, M.M.3
-
55
-
-
85026401827
-
N-glycan mediated adhesion strengthening during pathogen-receptor binding revealed by cell-cell force spectroscopy
-
Te Riet J, Joosten B, Reinieren-Beeren I, Figdor CG, Cambi A. N-glycan mediated adhesion strengthening during pathogen-receptor binding revealed by cell-cell force spectroscopy. Sci Rep. 2017;7(6713).
-
(2017)
Sci Rep
, vol.7
, Issue.6713
-
-
Te Riet, J.1
Joosten, B.2
Reinieren-Beeren, I.3
Figdor, C.G.4
Cambi, A.5
-
56
-
-
85014489244
-
Sialic acid removal from dendritic cells improves antigen cross-presentation and boosts anti-tumor immune responses
-
Silva M, Silva Z, Marques G, et al. Sialic acid removal from dendritic cells improves antigen cross-presentation and boosts anti-tumor immune responses. Oncotarget. 2016;7:41053–41066.
-
(2016)
Oncotarget
, vol.7
, Issue.41053-41066
-
-
Silva, M.1
Silva, Z.2
Marques, G.3
-
57
-
-
85068113809
-
MHC class I stability is modulated by cell surface sialylaion in human dendritic cells
-
Ferro T et al. MHC class I stability is modulated by cell surface sialylaion in human dendritic cells. European Journal of Immunology; 2018:46-47.
-
(2018)
European Journal of Immunology
, pp. 46-47
-
-
Ferro, T.1
-
58
-
-
79956111813
-
MHCII glycosylation modulates Bacteroides fragilis carbohydrate antigen presentation
-
Ryan SO, Bonomo JA, Zhao F, Cobb BA. MHCII glycosylation modulates Bacteroides fragilis carbohydrate antigen presentation. J Exp Med. 2011;208:1041-1053.
-
(2011)
J Exp Med
, vol.208
, pp. 1041-1053
-
-
Ryan, S.O.1
Bonomo, J.A.2
Zhao, F.3
Cobb, B.A.4
-
59
-
-
33746888249
-
Anti-inflammatory activity of immunoglobulin G resulting from Fc sialylation
-
Kaneko Y, Nimmerjahn F, Ravetch JV. Anti-inflammatory activity of immunoglobulin G resulting from Fc sialylation. Science (80-.). 2006;313:670-673.
-
(2006)
Science (80-.)
, vol.313
, pp. 670-673
-
-
Kaneko, Y.1
Nimmerjahn, F.2
Ravetch, J.V.3
-
60
-
-
42349085035
-
Recapitulation of IVIG anti-inflammatory activity with a recombinant IgG Fc
-
Anthony RM, Nimmerjahn F, Ashline DJ, Reinhold VN, Paulson JC, Ravetch JV. Recapitulation of IVIG anti-inflammatory activity with a recombinant IgG Fc. Science (80-.). 2008;320:373-376.
-
(2008)
Science (80-.)
, vol.320
, pp. 373-376
-
-
Anthony, R.M.1
Nimmerjahn, F.2
Ashline, D.J.3
Reinhold, V.N.4
Paulson, J.C.5
Ravetch, J.V.6
-
61
-
-
78751608551
-
The role of differential IgG glycosylation in the interaction of antibodies with FcγRs in vivo
-
Anthony RM, Nimmerjahn F. The role of differential IgG glycosylation in the interaction of antibodies with FcγRs in vivo. Curr Opin Organ Transplant. 2011;16:7-14.
-
(2011)
Curr Opin Organ Transplant
, vol.16
, pp. 7-14
-
-
Anthony, R.M.1
Nimmerjahn, F.2
-
62
-
-
84877152391
-
Natural variation in Fc glycosylation of HIV-specific antibodies impacts antiviral activity
-
Ackerman ME, Crispin M, Yu X, et al. Natural variation in Fc glycosylation of HIV-specific antibodies impacts antiviral activity. J Clin Invest. 2013;123:2183-2192.
-
(2013)
J Clin Invest
, vol.123
, pp. 2183-2192
-
-
Ackerman, M.E.1
Crispin, M.2
Yu, X.3
-
63
-
-
0028041301
-
Selectin ligands
-
Varki A. Selectin ligands. Proc Natl Acad Sci USA. 1994;91:7390-7397.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 7390-7397
-
-
Varki, A.1
-
64
-
-
84860246423
-
Sulfated glycans control lymphocyte homing
-
Kawashima H, Fukuda M. Sulfated glycans control lymphocyte homing. Ann N Y Acad Sci. 2012;1253:112-121.
-
(2012)
Ann N Y Acad Sci
, vol.1253
, pp. 112-121
-
-
Kawashima, H.1
Fukuda, M.2
-
65
-
-
85018475133
-
Cell-specific variation in E-selectin ligand expression among human peripheral blood mononuclear cells: implications for immunosurveillance and pathobiology
-
Silva M, Fung RKF, Donnelly CB, Videira PA, Sackstein R. Cell-specific variation in E-selectin ligand expression among human peripheral blood mononuclear cells: implications for immunosurveillance and pathobiology. J Immunol. 2017;198:3576-3587.
-
(2017)
J Immunol
, vol.198
, pp. 3576-3587
-
-
Silva, M.1
Fung, R.K.F.2
Donnelly, C.B.3
Videira, P.A.4
Sackstein, R.5
-
66
-
-
85040843304
-
E-selectin ligands in the human mononuclear phagocyte system: implications for infection, inflammation, and immunotherapy
-
Silva M, Videira PA, Sackstein R. E-selectin ligands in the human mononuclear phagocyte system: implications for infection, inflammation, and immunotherapy. Front Immunol. 2018;8(1878).
-
(2018)
Front Immunol
, vol.8
, Issue.1878
-
-
Silva, M.1
Videira, P.A.2
Sackstein, R.3
-
67
-
-
85050728670
-
Ligation of the CD44 Glycoform HCELL on culture-expanded human monocyte-derived dendritic cells programs Transendothelial migration
-
Videira PA, Silva M, Martin KC, Sackstein R. Ligation of the CD44 Glycoform HCELL on culture-expanded human monocyte-derived dendritic cells programs Transendothelial migration. J Immunol. 2018;201:1030-1043.
-
(2018)
J Immunol
, vol.201
, pp. 1030-1043
-
-
Videira, P.A.1
Silva, M.2
Martin, K.C.3
Sackstein, R.4
-
68
-
-
84924894624
-
Structural basis for sialic acid–mediated self-recognition by complement factor H
-
Blaum BS, Hannan JP, Herbert AP, Kavanagh D, Uhrín D, Stehle T. Structural basis for sialic acid–mediated self-recognition by complement factor H. Nat Chem Biol. 2015;11:77-82.
-
(2015)
Nat Chem Biol
, vol.11
, pp. 77-82
-
-
Blaum, B.S.1
Hannan, J.P.2
Herbert, A.P.3
Kavanagh, D.4
Uhrín, D.5
Stehle, T.6
-
69
-
-
84962263345
-
Sialic acid-modified antigens impose tolerance via inhibition of T-cell proliferation and de novo induction of regulatory T cells
-
Perdicchio M, Ilarregui JM, Verstege MI, et al. Sialic acid-modified antigens impose tolerance via inhibition of T-cell proliferation and de novo induction of regulatory T cells. Proc Natl Acad Sci USA. 2016;113:3329-3334.
-
(2016)
Proc Natl Acad Sci USA
, vol.113
, pp. 3329-3334
-
-
Perdicchio, M.1
Ilarregui, J.M.2
Verstege, M.I.3
-
70
-
-
68249162075
-
Effect of sialic acid loss on dendritic cell maturation
-
Crespo HJ, Guadalupe Cabral M, Teixeira AV, Lau JTY, Trindade H, Videira PA. Effect of sialic acid loss on dendritic cell maturation. Immunology. 2009;128:e621-e631.
-
(2009)
Immunology
, vol.128
, pp. e621-e631
-
-
Crespo, H.J.1
Guadalupe Cabral, M.2
Teixeira, A.V.3
Lau, J.T.Y.4
Trindade, H.5
Videira, P.A.6
-
71
-
-
84873294436
-
The phagocytic capacity and immunological potency of human dendritic cells is improved by α2,6-sialic acid deficiency
-
Cabral MG, Silva Z, Ligeiro D, et al. The phagocytic capacity and immunological potency of human dendritic cells is improved by α2,6-sialic acid deficiency. Immunology. 2013;138:235-245.
-
(2013)
Immunology
, vol.138
, pp. 235-245
-
-
Cabral, M.G.1
Silva, Z.2
Ligeiro, D.3
-
72
-
-
85040998042
-
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG
-
Dimitrov B, Himmelreich N, Hipgrave Ederveen AL, et al. Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. Mol Genet Metab. 2018;123:364-374.
-
(2018)
Mol Genet Metab
, vol.123
, pp. 364-374
-
-
Dimitrov, B.1
Himmelreich, N.2
Hipgrave Ederveen, A.L.3
-
73
-
-
84971238702
-
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
-
11600
-
Jansen EJR, Timal S, Ryan M, et al. ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. Nat Commun. 2016;7:11600.
-
(2016)
Nat Commun
, vol.7
-
-
Jansen, E.J.R.1
Timal, S.2
Ryan, M.3
-
74
-
-
85021351664
-
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
-
Volpi S, Yamazaki Y, Brauer PM, et al. EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. J Exp Med. 2017;214:623-637.
-
(2017)
J Exp Med
, vol.214
, pp. 623-637
-
-
Volpi, S.1
Yamazaki, Y.2
Brauer, P.M.3
-
75
-
-
85010908031
-
Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome
-
Oud MM, Tuijnenburg P, Hempel M, et al. Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome. Am J Hum Genet. 2017;100:281-296.
-
(2017)
Am J Hum Genet
, vol.100
, pp. 281-296
-
-
Oud, M.M.1
Tuijnenburg, P.2
Hempel, M.3
-
76
-
-
85021310767
-
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
-
Guo L, Elcioglu NH, Mizumoto S, et al. Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. J Hum Genet. 2017;62:797-801.
-
(2017)
J Hum Genet
, vol.62
, pp. 797-801
-
-
Guo, L.1
Elcioglu, N.H.2
Mizumoto, S.3
-
77
-
-
85040588389
-
Biallelic mutations in FUT8 cause a congenital disorder of glycosylation with defective fucosylation
-
Ng BG et al. Biallelic mutations in FUT8 cause a congenital disorder of glycosylation with defective fucosylation. Am J Hum Genet. 2018;102:188-195.
-
(2018)
Am J Hum Genet
, vol.102
, pp. 188-195
-
-
Ng, B.G.1
-
78
-
-
58249089770
-
A novel syndrome with congenital neutropenia caused by mutations in G6PC3
-
Boztug K, Appaswamy G, Ashikov A, et al. A novel syndrome with congenital neutropenia caused by mutations in G6PC3. N Engl J Med. 2009;360:32-43.
-
(2009)
N Engl J Med
, vol.360
, pp. 32-43
-
-
Boztug, K.1
Appaswamy, G.2
Ashikov, A.3
-
79
-
-
70349561436
-
A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia
-
Arostegui JI, de Toledo JS, Pascal M, Garcia C, Yague J, Diaz de Heredia C. A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia. Blood. 2009;114:1718-1719.
-
(2009)
Blood
, vol.114
, pp. 1718-1719
-
-
Arostegui, J.I.1
de Toledo, J.S.2
Pascal, M.3
Garcia, C.4
Yague, J.5
Diaz de Heredia, C.6
-
80
-
-
70350435426
-
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia
-
Xia J, Bolyard AA, Rodger E, et al. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol. 2009;147:535-542.
-
(2009)
Br J Haematol
, vol.147
, pp. 535-542
-
-
Xia, J.1
Bolyard, A.A.2
Rodger, E.3
-
81
-
-
77954477084
-
Digenic mutations in severe congenital neutropenia
-
Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K. Digenic mutations in severe congenital neutropenia. Haematologica. 2010;95:1207-1210.
-
(2010)
Haematologica
, vol.95
, pp. 1207-1210
-
-
Germeshausen, M.1
Zeidler, C.2
Stuhrmann, M.3
Lanciotti, M.4
Ballmaier, M.5
Welte, K.6
-
82
-
-
77953825604
-
Cardiac and renal malformations in a patient with sepsis and severe congenital neutropenia
-
Eghbali A, Eshghi P, Malek F, Rezaei N. Cardiac and renal malformations in a patient with sepsis and severe congenital neutropenia. Iran J Pediatr. 2010;20:225-228.
-
(2010)
Iran J Pediatr
, vol.20
, pp. 225-228
-
-
Eghbali, A.1
Eshghi, P.2
Malek, F.3
Rezaei, N.4
-
83
-
-
77957943766
-
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis
-
McDermott DH, de Ravin SS, Jun HS, et al. Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. Blood. 2010;116:2793-2802.
-
(2010)
Blood
, vol.116
, pp. 2793-2802
-
-
McDermott, D.H.1
de Ravin, S.S.2
Jun, H.S.3
-
85
-
-
85028120628
-
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
-
Banka S, Chervinsky E, Newman WG, et al. Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. Eur J Hum Genet. 2011;19:18-22.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 18-22
-
-
Banka, S.1
Chervinsky, E.2
Newman, W.G.3
-
86
-
-
79952189099
-
A case of syndromic neutropenia and mutation in G6PC3
-
Gatti S, Boztug K, Pedini A, et al. A case of syndromic neutropenia and mutation in G6PC3. J Pediatr Hematol Oncol. 2011;33:138-140.
-
(2011)
J Pediatr Hematol Oncol
, vol.33
, pp. 138-140
-
-
Gatti, S.1
Boztug, K.2
Pedini, A.3
-
87
-
-
79958838942
-
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction
-
Hayee B, Antonopoulos A, Murphy EJ, et al. G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction. Glycobiology. 2011;21:914-924.
-
(2011)
Glycobiology
, vol.21
, pp. 914-924
-
-
Hayee, B.1
Antonopoulos, A.2
Murphy, E.J.3
-
88
-
-
80052840923
-
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia
-
Cullinane AR, Vilboux T, O'Brien K, et al. Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol. 2011;131:2017-2025.
-
(2011)
J Invest Dermatol
, vol.131
, pp. 2017-2025
-
-
Cullinane, A.R.1
Vilboux, T.2
O'Brien, K.3
-
89
-
-
80052975093
-
Two cases of syndromic neutropenia with a report of novel mutation in G6PC3
-
Alizadeh Z et al. Two cases of syndromic neutropenia with a report of novel mutation in G6PC3. Iran J Allergy, Asthma Immunol. 2011;10:227-230.
-
(2011)
Iran J Allergy, Asthma Immunol
, vol.10
, pp. 227-230
-
-
Alizadeh, Z.1
-
90
-
-
84858335877
-
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia
-
e2
-
Boztug K, Rosenberg PS, Dorda M, et al. Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. J Pediatr. 2012;160:679-683.e2.
-
(2012)
J Pediatr
, vol.160
, pp. 679-683
-
-
Boztug, K.1
Rosenberg, P.S.2
Dorda, M.3
-
91
-
-
84862260436
-
Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia
-
Smith BN, Evans C, Ali A, et al. Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia. Br J Haematol. 2012;158:146-149.
-
(2012)
Br J Haematol
, vol.158
, pp. 146-149
-
-
Smith, B.N.1
Evans, C.2
Ali, A.3
-
92
-
-
84869207490
-
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype
-
Fernandez BA et al. Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype. BMC Med Genet. 2012;13(111).
-
(2012)
BMC Med Genet
, vol.13
, Issue.111
-
-
Fernandez, B.A.1
-
93
-
-
84874481719
-
A novel G6PC3 gene mutation in a patient with severe congenital neutropenia
-
Aytekin C, Germeshausen M, Tuygun N, Dogu F, Ikinciogullari A. A novel G6PC3 gene mutation in a patient with severe congenital neutropenia. J Pediatr Hematol Oncol. 2013;35:e81-e83.
-
(2013)
J Pediatr Hematol Oncol
, vol.35
, pp. e81-e83
-
-
Aytekin, C.1
Germeshausen, M.2
Tuygun, N.3
Dogu, F.4
Ikinciogullari, A.5
-
94
-
-
84879886180
-
Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency
-
Bégin P, Patey N, Mueller P, et al. Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency. J Clin Immunol. 2013;33:520-525.
-
(2013)
J Clin Immunol
, vol.33
, pp. 520-525
-
-
Bégin, P.1
Patey, N.2
Mueller, P.3
-
95
-
-
84872981709
-
G6PC3 mutations cause non-syndromic severe congenital neutropenia
-
Banka S, Wynn R, Byers H, Arkwright PD, Newman WG. G6PC3 mutations cause non-syndromic severe congenital neutropenia. Mol Genet Metab. 2013;108:138-141.
-
(2013)
Mol Genet Metab
, vol.108
, pp. 138-141
-
-
Banka, S.1
Wynn, R.2
Byers, H.3
Arkwright, P.D.4
Newman, W.G.5
-
96
-
-
84878258344
-
A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency
-
Estévez OA, Ortega C, Tejero Á, et al. A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency. Pediatr Blood Cancer. 2013;60:E29-E31.
-
(2013)
Pediatr Blood Cancer
, vol.60
, pp. E29-E31
-
-
Estévez, O.A.1
Ortega, C.2
Tejero, Á.3
-
97
-
-
84875492764
-
Different pattern of gene mutations in Iranian patients with severe congenital
-
Alizadeh Z et al. Different pattern of gene mutations in Iranian patients with severe congenital. Iran J Allergy Asthma Immunol. 2013;12:86-92.
-
(2013)
Iran J Allergy Asthma Immunol
, vol.12
, pp. 86-92
-
-
Alizadeh, Z.1
-
98
-
-
84877982807
-
Diffuse intestinal ganglioneuromatosis in a child
-
Matthews MAB, Adler BH, Arnold MA, Kumar S, Carvalho R, Besner GE. Diffuse intestinal ganglioneuromatosis in a child. J Pediatr Surg. 2013;48:1129-1133.
-
(2013)
J Pediatr Surg
, vol.48
, pp. 1129-1133
-
-
Matthews, M.A.B.1
Adler, B.H.2
Arnold, M.A.3
Kumar, S.4
Carvalho, R.5
Besner, G.E.6
-
99
-
-
84889028937
-
A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family
-
Alangari AA, Alsultan A, Osman ME, Anazi S, Alkuraya FS. A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. J Clin Immunol. 2013;33:1403-1406.
-
(2013)
J Clin Immunol
, vol.33
, pp. 1403-1406
-
-
Alangari, A.A.1
Alsultan, A.2
Osman, M.E.3
Anazi, S.4
Alkuraya, F.S.5
-
100
-
-
84903757271
-
Resolution of inflammatory colitis with pegfilgrastim treatment in a case of severe congenital neutropenia due to glucose 6 phosphatase catalytic subunit-3 deficiency
-
Kaya Z, Eğritaş Ö, Albayrak M, et al. Resolution of inflammatory colitis with pegfilgrastim treatment in a case of severe congenital neutropenia due to glucose 6 phosphatase catalytic subunit-3 deficiency. J Pediatr Hematol Oncol. 2014;36:316-318.
-
(2014)
J Pediatr Hematol Oncol
, vol.36
, pp. 316-318
-
-
Kaya, Z.1
Eğritaş, Ö.2
Albayrak, M.3
-
101
-
-
84899489989
-
Sea-blue histiocytes in the bone marrow of a boy with severe congenital neutropenia associated with G6PC3 mutation
-
Tavil B, Cetin M, Gumruk F. Sea-blue histiocytes in the bone marrow of a boy with severe congenital neutropenia associated with G6PC3 mutation. Br J Haematol. 2014;165:426.
-
(2014)
Br J Haematol
, vol.165
, pp. 426
-
-
Tavil, B.1
Cetin, M.2
Gumruk, F.3
-
102
-
-
84898056569
-
Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines
-
Özgül RK, Yücel-YIlmaz D, Dursun A. Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines. J Clin Immunol. 2014;34:265-266.
-
(2014)
J Clin Immunol
, vol.34
, pp. 265-266
-
-
Özgül, R.K.1
Yücel-YIlmaz, D.2
Dursun, A.3
-
103
-
-
84904612872
-
Testicular failure in a patient with G6PC3 deficiency
-
Yeshayahu Y, Asaf R, Dubnov-Raz G, et al. Testicular failure in a patient with G6PC3 deficiency. Pediatr Res. 2014;76:197-201.
-
(2014)
Pediatr Res
, vol.76
, pp. 197-201
-
-
Yeshayahu, Y.1
Asaf, R.2
Dubnov-Raz, G.3
-
104
-
-
84920860920
-
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations
-
Notarangelo LD, Savoldi G, Cavagnini S, et al. Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations. Ital J Pediatr. 2014;40(80):80.
-
(2014)
Ital J Pediatr
, vol.40
, Issue.80
, pp. 80
-
-
Notarangelo, L.D.1
Savoldi, G.2
Cavagnini, S.3
-
105
-
-
84930685465
-
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry
-
Desplantes C et al. Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry. Orphanet J Rare Dis. 2014;9:1-15.
-
(2014)
Orphanet J Rare Dis
, vol.9
, pp. 1-15
-
-
Desplantes, C.1
-
106
-
-
84945915919
-
G6PC3 deficiency: primary immune deficiency beyond just neutropenia
-
Kiykim A, Baris S, Karakoc-Aydiner E, et al. G6PC3 deficiency: primary immune deficiency beyond just neutropenia. J Pediatr Hematol Oncol. 2015;37:616-622.
-
(2015)
J Pediatr Hematol Oncol
, vol.37
, pp. 616-622
-
-
Kiykim, A.1
Baris, S.2
Karakoc-Aydiner, E.3
-
107
-
-
84922825078
-
A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome
-
Arikoglu T, Kuyucu N, Germeshausen M, Kuyucu S. A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome. Eur J Haematol. 2015;94:79-82.
-
(2015)
Eur J Haematol
, vol.94
, pp. 79-82
-
-
Arikoglu, T.1
Kuyucu, N.2
Germeshausen, M.3
Kuyucu, S.4
-
108
-
-
84922823799
-
Genetic analysis and clinical picture of severe congenital neutropenia in Israel
-
Lebel A, Yacobovich J, Krasnov T, et al. Genetic analysis and clinical picture of severe congenital neutropenia in Israel. Pediatr Blood Cancer. 2015;62:103-108.
-
(2015)
Pediatr Blood Cancer
, vol.62
, pp. 103-108
-
-
Lebel, A.1
Yacobovich, J.2
Krasnov, T.3
-
109
-
-
84955559724
-
A severe congenital neutropenia type 4 case (G6PC3 mutation) presented with large platelets in the peripheral smear
-
Cihan MK et al. A severe congenital neutropenia type 4 case (G6PC3 mutation) presented with large platelets in the peripheral smear. J Pediatr Hematol Oncol. 2016;38:324-328.
-
(2016)
J Pediatr Hematol Oncol
, vol.38
, pp. 324-328
-
-
Cihan, M.K.1
-
110
-
-
84984666462
-
Phenotypic heterogeneity of neutropenia and gastrointestinal illness associated with G6PC3 founder mutation
-
Glasser CL, Picoraro JA, Jain P, et al. Phenotypic heterogeneity of neutropenia and gastrointestinal illness associated with G6PC3 founder mutation. J Pediatr Hematol Oncol. 2016;38:e243-e247.
-
(2016)
J Pediatr Hematol Oncol
, vol.38
, pp. e243-e247
-
-
Glasser, C.L.1
Picoraro, J.A.2
Jain, P.3
-
111
-
-
85034024977
-
Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency associated with autoinflammatory complications
-
Mistry A, Scambler T, Parry D, et al. Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency associated with autoinflammatory complications. Front Immunol. 2017;8(1485).
-
(2017)
Front Immunol
, vol.8
, Issue.1485
-
-
Mistry, A.1
Scambler, T.2
Parry, D.3
-
112
-
-
85056297204
-
Both granulocytic and non-granulocytic blood cells are affected in patients with severe congenital neutropenia and their non-neutropenic family members: An evaluation of morphology, function, and cell death
-
Olcay L et al. Both granulocytic and non-granulocytic blood cells are affected in patients with severe congenital neutropenia and their non-neutropenic family members: An evaluation of morphology, function, and cell death. Turkish J Hematol. 2018;35:229-259.
-
(2018)
Turkish J Hematol
, vol.35
, pp. 229-259
-
-
Olcay, L.1
-
113
-
-
85056415312
-
Clinical, laboratory, and molecular characteristics and remission status in children with severe congenital and non-congenital neutropenia
-
Gong R-L, Wu J, Chen T-X. Clinical, laboratory, and molecular characteristics and remission status in children with severe congenital and non-congenital neutropenia. Front Pediatr. 2018;6(305).
-
(2018)
Front Pediatr
, vol.6
, Issue.305
-
-
Gong, R.-L.1
Wu, J.2
Chen, T.-X.3
-
115
-
-
84922393563
-
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia
-
Boztug K, Järvinen PM, Salzer E, et al. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. Nat Genet. 2014;46:1021-1027.
-
(2014)
Nat Genet
, vol.46
, pp. 1021-1027
-
-
Boztug, K.1
Järvinen, P.M.2
Salzer, E.3
-
116
-
-
84929838024
-
JAGN1 deficient severe congenital neutropenia: two cases from the same family
-
Baris S, Karakoc–Aydiner E, Ozen A, et al. JAGN1 deficient severe congenital neutropenia: two cases from the same family. J Clin Immunol. 2015;35:339-343.
-
(2015)
J Clin Immunol
, vol.35
, pp. 339-343
-
-
Baris, S.1
Karakoc–Aydiner, E.2
Ozen, A.3
-
117
-
-
85052465652
-
JAGN1 is required for fungal killing in neutrophil extracellular traps: implications for severe congenital neutropenia
-
Khandagale A, Lazzaretto B, Carlsson G, et al. JAGN1 is required for fungal killing in neutrophil extracellular traps: implications for severe congenital neutropenia. J Leukoc Biol. 2018;104:1199-1213.
-
(2018)
J Leukoc Biol
, vol.104
, pp. 1199-1213
-
-
Khandagale, A.1
Lazzaretto, B.2
Carlsson, G.3
-
118
-
-
84953636114
-
Neonatal-onset T-B-NK+severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3
-
Bernth-Jensen JM, Holm M, Christiansen M. Neonatal-onset T-B-NK+severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3. J Allergy Clin Immunol. 2016;137:321-324.
-
(2016)
J Allergy Clin Immunol
, vol.137
, pp. 321-324
-
-
Bernth-Jensen, J.M.1
Holm, M.2
Christiansen, M.3
-
119
-
-
85021904849
-
A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients
-
Ben-Khemis L, Mekki N, Ben-Mustapha I, et al. A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients. Mol Immunol. 2017;90:57-63.
-
(2017)
Mol Immunol
, vol.90
, pp. 57-63
-
-
Ben-Khemis, L.1
Mekki, N.2
Ben-Mustapha, I.3
-
120
-
-
85021433700
-
A novel PGM3 mutation is associated with a severe phenotype of bone marrow failure, severe combined immunodeficiency, skeletal dysplasia, and congenital malformations
-
Pacheco-Cuéllar G, Gauthier J, Désilets V, et al. A novel PGM3 mutation is associated with a severe phenotype of bone marrow failure, severe combined immunodeficiency, skeletal dysplasia, and congenital malformations. J Bone Miner Res. 2017;32:1853-1859.
-
(2017)
J Bone Miner Res
, vol.32
, pp. 1853-1859
-
-
Pacheco-Cuéllar, G.1
Gauthier, J.2
Désilets, V.3
-
121
-
-
85052577427
-
Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report
-
Lundin KE, Wang Q, Hamasy A, et al. Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report. BMC Pediatr. 2018;18(285):285.
-
(2018)
BMC Pediatr
, vol.18
, Issue.285
, pp. 285
-
-
Lundin, K.E.1
Wang, Q.2
Hamasy, A.3
-
122
-
-
0031448837
-
Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib
-
Gerin I, Veiga-Da-Cunha M, Achouri Y, Collet JF, Van Schaftingen E. Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. FEBS Lett. 1997;419:235-238.
-
(1997)
FEBS Lett
, vol.419
, pp. 235-238
-
-
Gerin, I.1
Veiga-Da-Cunha, M.2
Achouri, Y.3
Collet, J.F.4
Van Schaftingen, E.5
-
123
-
-
0032231666
-
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic
-
Veiga-da-Cunha M, Gerin I, Chen YT, et al. A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. Am J Hum Genet. 1998;63:976-983.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 976-983
-
-
Veiga-da-Cunha, M.1
Gerin, I.2
Chen, Y.T.3
-
124
-
-
2442672686
-
Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation
-
Adachi M, Shinkai M, Ohhama Y, et al. Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation. Eur J Pediatr. 2004;163:202-206.
-
(2004)
Eur J Pediatr
, vol.163
, pp. 202-206
-
-
Adachi, M.1
Shinkai, M.2
Ohhama, Y.3
-
125
-
-
0033777083
-
Mutation analysis in glycogen storage disease type 1 non-a
-
Janecke AR, Lindner M, Erdel M, et al. Mutation analysis in glycogen storage disease type 1 non-a. Hum Genet. 2000;107:285-289.
-
(2000)
Hum Genet
, vol.107
, pp. 285-289
-
-
Janecke, A.R.1
Lindner, M.2
Erdel, M.3
-
126
-
-
23044433600
-
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature
-
Melis D, Fulceri R, Parenti G, et al. Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. Eur J Pediatr. 2005;164:501-508.
-
(2005)
Eur J Pediatr
, vol.164
, pp. 501-508
-
-
Melis, D.1
Fulceri, R.2
Parenti, G.3
-
127
-
-
85015602662
-
Novel SLC37A4 mutations in Korean patients with glycogen storage disease Ib
-
Choi R, Park HD, Ko JM, et al. Novel SLC37A4 mutations in Korean patients with glycogen storage disease Ib. Ann Lab Med. 2017;37:261-266.
-
(2017)
Ann Lab Med
, vol.37
, pp. 261-266
-
-
Choi, R.1
Park, H.D.2
Ko, J.M.3
-
128
-
-
84897023533
-
Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b
-
Melis D, Pivonello R, Cozzolino M, et al. Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b. Horm Res Paediatr. 2014;81:55-62.
-
(2014)
Horm Res Paediatr
, vol.81
, pp. 55-62
-
-
Melis, D.1
Pivonello, R.2
Cozzolino, M.3
-
129
-
-
0032826812
-
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c
-
Galli L, Orrico A, Marcolongo P, et al. Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. FEBS Lett. 1999;459:255-258.
-
(1999)
FEBS Lett
, vol.459
, pp. 255-258
-
-
Galli, L.1
Orrico, A.2
Marcolongo, P.3
-
130
-
-
0032832388
-
Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene
-
Hou DC, Kure S, Suzuki Y, et al. Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. Am J Med Genet. 1999;86:253-257.
-
(1999)
Am J Med Genet
, vol.86
, pp. 253-257
-
-
Hou, D.C.1
Kure, S.2
Suzuki, Y.3
-
131
-
-
0034220543
-
A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b
-
Lam C-W, Chan KY, Tong SF, Chan BY, Chan YT, Chan YW. A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b. Hum Mutat. 2000;16:94-94.
-
(2000)
Hum Mutat
, vol.16
, pp. 94
-
-
Lam, C.-W.1
Chan, K.Y.2
Tong, S.F.3
Chan, B.Y.4
Chan, Y.T.5
Chan, Y.W.6
-
132
-
-
4644318391
-
Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases
-
Trioche P, Petit F, Francoual J, et al. Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases. J Inherit Metab Dis. 2004;27:621-623.
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 621-623
-
-
Trioche, P.1
Petit, F.2
Francoual, J.3
-
133
-
-
31644448422
-
Mutation spectrum of type I glycogen storage disease in Hungary
-
Miltenberger-Miltenyi G, Szonyi L, Balogh L, Utermann G, Janecke AR. Mutation spectrum of type I glycogen storage disease in Hungary. J Inherit Metab Dis. 2005;28:939-944.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 939-944
-
-
Miltenberger-Miltenyi, G.1
Szonyi, L.2
Balogh, L.3
Utermann, G.4
Janecke, A.R.5
-
134
-
-
33846905914
-
Glycogen storage disease type Ib without hypoglycemia
-
Kovacevic A, Ehrlich R, Mayatepek E, Wendel U, Schwahn B. Glycogen storage disease type Ib without hypoglycemia. Mol Genet Metab. 2007;90:349-350.
-
(2007)
Mol Genet Metab
, vol.90
, pp. 349-350
-
-
Kovacevic, A.1
Ehrlich, R.2
Mayatepek, E.3
Wendel, U.4
Schwahn, B.5
-
135
-
-
67649986037
-
Glycogen storage disease type 1b: mild phenotype associated with a novel splice site mutation
-
Chopra M, Jackson R, Durkie M, Beauchamp NJ, Kirk EP. Glycogen storage disease type 1b: mild phenotype associated with a novel splice site mutation. Mol Genet Metab. 2009;97:315.
-
(2009)
Mol Genet Metab
, vol.97
, pp. 315
-
-
Chopra, M.1
Jackson, R.2
Durkie, M.3
Beauchamp, N.J.4
Kirk, E.P.5
-
136
-
-
77954913425
-
Molecular analysis of glycogen storage disease type Ib in Sardinian population: evidence for a founder effect
-
Zappu A, Lilliu F, Podda RA, Loudianos G. Molecular analysis of glycogen storage disease type Ib in Sardinian population: evidence for a founder effect. Genet Test Mol Biomarkers. 2010;14:399-403.
-
(2010)
Genet Test Mol Biomarkers
, vol.14
, pp. 399-403
-
-
Zappu, A.1
Lilliu, F.2
Podda, R.A.3
Loudianos, G.4
-
137
-
-
0032551726
-
Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11
-
Kure S, Suzuki Y, Matsubara Y, et al. Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. Biochem Biophys Res Commun. 1998;248:426-431.
-
(1998)
Biochem Biophys Res Commun
, vol.248
, pp. 426-431
-
-
Kure, S.1
Suzuki, Y.2
Matsubara, Y.3
-
138
-
-
12144288555
-
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R
-
Kojima K, Kure S, Kamada F, et al. Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R. Mol Genet Metab. 2004;81:343-346.
-
(2004)
Mol Genet Metab
, vol.81
, pp. 343-346
-
-
Kojima, K.1
Kure, S.2
Kamada, F.3
-
139
-
-
85019254042
-
Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib
-
Mameesh M, Ganesh A, Harikrishna B, et al. Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib. Ophthalmic Genet. 2017;38:544-548.
-
(2017)
Ophthalmic Genet
, vol.38
, pp. 544-548
-
-
Mameesh, M.1
Ganesh, A.2
Harikrishna, B.3
-
140
-
-
85060340766
-
A third case of glycogen storage disease IB and Giant cell tumour of the mandible: a disease association or iatrogenic complication of therapy
-
Prasad R, Estrella J, Christodoulou J, McKellar G, Tchan MC. A third case of glycogen storage disease IB and Giant cell tumour of the mandible: a disease association or iatrogenic complication of therapy. JIMD Rep. 2017;42:5-8.
-
(2017)
JIMD Rep
, vol.42
, pp. 5-8
-
-
Prasad, R.1
Estrella, J.2
Christodoulou, J.3
McKellar, G.4
Tchan, M.C.5
-
141
-
-
0032475903
-
Structure and mutation analysis of the glycogen storage disease type 1b gene
-
Marcolongo P, Barone V, Priori G, et al. Structure and mutation analysis of the glycogen storage disease type 1b gene. FEBS Lett. 1998;436:247-250.
-
(1998)
FEBS Lett
, vol.436
, pp. 247-250
-
-
Marcolongo, P.1
Barone, V.2
Priori, G.3
-
142
-
-
0032831035
-
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a
-
Veiga-da-Cunha M, Gerin I, Chen YT, et al. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. Eur J Hum Genet. 1999;7:717-723.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 717-723
-
-
Veiga-da-Cunha, M.1
Gerin, I.2
Chen, Y.T.3
-
143
-
-
0033837865
-
Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European study on glycogen storage disease type I
-
Visser G, Rake JP, Fernandes J, et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European study on glycogen storage disease type I. J Pediatr. 2000;137:187-191.
-
(2000)
J Pediatr
, vol.137
, pp. 187-191
-
-
Visser, G.1
Rake, J.P.2
Fernandes, J.3
-
144
-
-
84855612053
-
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders?
-
Melis D et al. Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders? J Inherit Metab Dis. 2008;31:S227-S231.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. S227-S231
-
-
Melis, D.1
-
145
-
-
67650763111
-
Glycogen storage disease type Ib: the first case in Taiwan
-
Hsiao HJ, Chang HH, Hwu WL, Lam CW, Lee NC, Chien YH. Glycogen storage disease type Ib: the first case in Taiwan. Pediatr Neonatol. 2009;50:125-128.
-
(2009)
Pediatr Neonatol
, vol.50
, pp. 125-128
-
-
Hsiao, H.J.1
Chang, H.H.2
Hwu, W.L.3
Lam, C.W.4
Lee, N.C.5
Chien, Y.H.6
-
146
-
-
73849119471
-
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b
-
Melis D, Della Casa R, Parini R, et al. Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b. Eur J Pediatr. 2009;168:1069-1074.
-
(2009)
Eur J Pediatr
, vol.168
, pp. 1069-1074
-
-
Melis, D.1
Della Casa, R.2
Parini, R.3
-
147
-
-
84882778776
-
A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia
-
Dissanayake VH, Jayasinghe JD, Thilakaratne V, Jayasekara RW. A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia. J Mol Genet Med. 2011;5:262-263.
-
(2011)
J Mol Genet Med
, vol.5
, pp. 262-263
-
-
Dissanayake, V.H.1
Jayasinghe, J.D.2
Thilakaratne, V.3
Jayasekara, R.W.4
-
148
-
-
84873544259
-
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin
-
Wang J, Cui H, Lee NC, et al. Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. Genet Med. 2013;15:106-114.
-
(2013)
Genet Med
, vol.15
, pp. 106-114
-
-
Wang, J.1
Cui, H.2
Lee, N.C.3
-
149
-
-
84898009085
-
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity
-
Melis D, Casa RD, Balivo F, et al. Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity. Ital J Pediatr. 2014;40(30).
-
(2014)
Ital J Pediatr
, vol.40
, Issue.30
-
-
Melis, D.1
Casa, R.D.2
Balivo, F.3
-
150
-
-
85068171358
-
Glycogen storage disease type 1B: An early onset severe phenotype associated with a novel mutation (IVS4) in the glucose 6-phosphate translocase (SLC37A4) gene in a Turkish patient
-
Oguz MM et al. Glycogen storage disease type 1B: An early onset severe phenotype associated with a novel mutation (IVS4) in the glucose 6-phosphate translocase (SLC37A4) gene in a Turkish patient. Genet Couns. 2014;25:589-594.
-
(2014)
Genet Couns
, vol.25
, pp. 589-594
-
-
Oguz, M.M.1
-
151
-
-
84964252140
-
Esophageal stricture secondary to candidiasis in a child with glycogen storage disease 1b
-
Lee KJ, Choi SJ, Kim WS, Park SS, Moon JS, Ko JS. Esophageal stricture secondary to candidiasis in a child with glycogen storage disease 1b. Pediatr Gastroenterol Hepatol Nutr. 2016;19:71-75.
-
(2016)
Pediatr Gastroenterol Hepatol Nutr
, vol.19
, pp. 71-75
-
-
Lee, K.J.1
Choi, S.J.2
Kim, W.S.3
Park, S.S.4
Moon, J.S.5
Ko, J.S.6
-
152
-
-
85009965101
-
Partial correction of neutrophil dysfunction by oral galactose therapy in glycogen storage disease type Ib
-
Letkemann R, Wittkowski H, Antonopoulos A, et al. Partial correction of neutrophil dysfunction by oral galactose therapy in glycogen storage disease type Ib. Int Immunopharmacol. 2017;44:216-225.
-
(2017)
Int Immunopharmacol
, vol.44
, pp. 216-225
-
-
Letkemann, R.1
Wittkowski, H.2
Antonopoulos, A.3
-
153
-
-
85041031551
-
Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants
-
Skakic A, Djordjevic M, Sarajlija A, et al. Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants. Clin Genet. 2018;93:350-355.
-
(2018)
Clin Genet
, vol.93
, pp. 350-355
-
-
Skakic, A.1
Djordjevic, M.2
Sarajlija, A.3
-
154
-
-
84924118537
-
Genome-wide shRNA screening identifies host factors involved in early endocytic events for HIV-1-induced CD4 down-regulation
-
Landi A, Vermeire J, Iannucci V, et al. Genome-wide shRNA screening identifies host factors involved in early endocytic events for HIV-1-induced CD4 down-regulation. Retrovirology. 2014;11:118.
-
(2014)
Retrovirology
, vol.11
, pp. 118
-
-
Landi, A.1
Vermeire, J.2
Iannucci, V.3
-
155
-
-
84938551448
-
RNASEK is a V-ATPase-associated factor required for endocytosis and the replication of rhinovirus, influenza a virus, and dengue virus
-
Perreira JM, Aker AM, Savidis G, et al. RNASEK is a V-ATPase-associated factor required for endocytosis and the replication of rhinovirus, influenza a virus, and dengue virus. Cell Rep. 2015;12:850-863.
-
(2015)
Cell Rep
, vol.12
, pp. 850-863
-
-
Perreira, J.M.1
Aker, A.M.2
Savidis, G.3
-
156
-
-
27644439090
-
Dysregulation of TGF-beta1 receptor activation leads to abnormal lung development and emphysema-like phenotype in core fucose-deficient mice
-
Wang X, Inoue S, Gu J, et al. Dysregulation of TGF-beta1 receptor activation leads to abnormal lung development and emphysema-like phenotype in core fucose-deficient mice. Proc Natl Acad Sci USA. 2005;102:15791-15796.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 15791-15796
-
-
Wang, X.1
Inoue, S.2
Gu, J.3
-
157
-
-
84864088936
-
α1,6-Fucosyltransferase (Fut8) is implicated in vulnerability to elastase-induced emphysema in mice and a possible non-invasive predictive marker for disease progression and exacerbations in chronic obstructive pulmonary disease (COPD)
-
Kamio K, Yoshida T, Gao C, et al. α1,6-Fucosyltransferase (Fut8) is implicated in vulnerability to elastase-induced emphysema in mice and a possible non-invasive predictive marker for disease progression and exacerbations in chronic obstructive pulmonary disease (COPD). Biochem Biophys Res Commun. 2012;424:112-117.
-
(2012)
Biochem Biophys Res Commun
, vol.424
, pp. 112-117
-
-
Kamio, K.1
Yoshida, T.2
Gao, C.3
-
158
-
-
84924565566
-
Core Fucosylation of IgG B cell receptor is required for antigen recognition and antibody production
-
Li W, Yu R, Ma B, et al. Core Fucosylation of IgG B cell receptor is required for antigen recognition and antibody production. J Immunol. 2015;194:2596-2606.
-
(2015)
J Immunol
, vol.194
, pp. 2596-2606
-
-
Li, W.1
Yu, R.2
Ma, B.3
-
159
-
-
85041207339
-
Core fucosylation of the T cell receptor is required for T cell activation
-
Liang W, Mao S, Sun S, et al. Core fucosylation of the T cell receptor is required for T cell activation. Front Immunol. 2018;9:78.
-
(2018)
Front Immunol
, vol.9
, pp. 78
-
-
Liang, W.1
Mao, S.2
Sun, S.3
-
160
-
-
37549010718
-
Reduced α4β1 integrin/VCAM-1 interactions lead to impaired pre-B cell repopulation in alpha 1,6-fucosyltransferase deficient mice
-
Li W, Ishihara K, Yokota T, et al. Reduced α4β1 integrin/VCAM-1 interactions lead to impaired pre-B cell repopulation in alpha 1,6-fucosyltransferase deficient mice. Glycobiology. 2008;18:114-124.
-
(2008)
Glycobiology
, vol.18
, pp. 114-124
-
-
Li, W.1
Ishihara, K.2
Yokota, T.3
-
161
-
-
84862939682
-
Core fucosylation of μ heavy chains regulates assembly and intracellular signaling of precursor B cell receptors
-
Li W, Liu Q, Pang Y, et al. Core fucosylation of μ heavy chains regulates assembly and intracellular signaling of precursor B cell receptors. J Biol Chem. 2012;287:2500-2508.
-
(2012)
J Biol Chem
, vol.287
, pp. 2500-2508
-
-
Li, W.1
Liu, Q.2
Pang, Y.3
-
162
-
-
85035070842
-
Core fucose is critical for CD14-dependent toll-like receptor 4 signaling
-
Iijima J, Kobayashi S, Kitazume S, et al. Core fucose is critical for CD14-dependent toll-like receptor 4 signaling. Glycobiology. 2017;27:1006-1015.
-
(2017)
Glycobiology
, vol.27
, pp. 1006-1015
-
-
Iijima, J.1
Kobayashi, S.2
Kitazume, S.3
-
163
-
-
85042537258
-
Genome-wide association study on immunoglobulin G glycosylation patterns
-
Mazer BD et al. Genome-wide association study on immunoglobulin G glycosylation patterns. Front Immunol. 2018;9:1-14.
-
(2018)
Front Immunol
, vol.9
, pp. 1-14
-
-
Mazer, B.D.1
-
164
-
-
84975842440
-
Core Fucosylation on T cells, required for activation of T-cell receptor signaling and induction of colitis in mice, is increased in patients with inflammatory bowel disease
-
Fujii H, Shinzaki S, Iijima H, et al. Core Fucosylation on T cells, required for activation of T-cell receptor signaling and induction of colitis in mice, is increased in patients with inflammatory bowel disease. Gastroenterology. 2016;150:1620-1632.
-
(2016)
Gastroenterology
, vol.150
, pp. 1620-1632
-
-
Fujii, H.1
Shinzaki, S.2
Iijima, H.3
-
165
-
-
84922393211
-
Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense
-
Wirnsberger G, Zwolanek F, Stadlmann J, et al. Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense. Nat Genet. 2014;46:1028-1033.
-
(2014)
Nat Genet
, vol.46
, pp. 1028-1033
-
-
Wirnsberger, G.1
Zwolanek, F.2
Stadlmann, J.3
-
166
-
-
84945280026
-
Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene
-
Lundin KE, Hamasy A, Backe PH, et al. Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene. Clin Immunol. 2015;161:366-372.
-
(2015)
Clin Immunol
, vol.161
, pp. 366-372
-
-
Lundin, K.E.1
Hamasy, A.2
Backe, P.H.3
-
167
-
-
84950253163
-
Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation
-
Wu G, Hitchen PG, Panico M, et al. Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation. Glycoconj J. 2016;33:447-456.
-
(2016)
Glycoconj J
, vol.33
, pp. 447-456
-
-
Wu, G.1
Hitchen, P.G.2
Panico, M.3
-
168
-
-
84893818400
-
Site-specific N-glycosylation analysis of human immunoglobulin e
-
Plomp R, Hensbergen PJ, Rombouts Y, et al. Site-specific N-glycosylation analysis of human immunoglobulin e. J Proteome Res. 2014;13:536-546.
-
(2014)
J Proteome Res
, vol.13
, pp. 536-546
-
-
Plomp, R.1
Hensbergen, P.J.2
Rombouts, Y.3
-
169
-
-
84899629014
-
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels
-
Sassi A, Lazaroski S, Wu G, et al. Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. J Allergy Clin Immunol. 2014;133:1410-1419.
-
(2014)
J Allergy Clin Immunol
, vol.133
, pp. 1410-1419
-
-
Sassi, A.1
Lazaroski, S.2
Wu, G.3
-
170
-
-
35348836064
-
Requirement for O-linked N-acetylglucosaminyltransferase in lymphocytes activation
-
Golks A, Tran TTT, Goetschy JF, Guerini D. Requirement for O-linked N-acetylglucosaminyltransferase in lymphocytes activation. EMBO J. 2007;26:4368-4379.
-
(2007)
EMBO J
, vol.26
, pp. 4368-4379
-
-
Golks, A.1
Tran, T.T.T.2
Goetschy, J.F.3
Guerini, D.4
-
171
-
-
84884139186
-
Activation of the transcriptional function of the NF- B protein c-Rel by O-GlcNAc glycosylation
-
Ramakrishnan P, Clark PM, Mason DE, Peters EC, Hsieh-Wilson LC, Baltimore D. Activation of the transcriptional function of the NF- B protein c-Rel by O-GlcNAc glycosylation. Sci Signal. 2013;6:ra75.
-
(2013)
Sci Signal
, vol.6
, pp. ra75
-
-
Ramakrishnan, P.1
Clark, P.M.2
Mason, D.E.3
Peters, E.C.4
Hsieh-Wilson, L.C.5
Baltimore, D.6
-
172
-
-
0032763425
-
Correction of leukocyte adhesion deficiency type II with oral fucose
-
Marquardt T et al. Correction of leukocyte adhesion deficiency type II with oral fucose. Blood. 2012;94:3976-3985.
-
(2012)
Blood
, vol.94
, pp. 3976-3985
-
-
Marquardt, T.1
-
173
-
-
0035036832
-
The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter
-
Lühn K, Wild MK, Eckhardt M, Gerardy-Schahn R, Vestweber D. The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. Nat Genet. 2001;28:69-72.
-
(2001)
Nat Genet
, vol.28
, pp. 69-72
-
-
Lühn, K.1
Wild, M.K.2
Eckhardt, M.3
Gerardy-Schahn, R.4
Vestweber, D.5
-
174
-
-
47049108414
-
Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib
-
Kim SYSY, Jun HS, Mead PA, Mansfield BC, Chou JY. Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib. Blood. 2008;111:5704-5711.
-
(2008)
Blood
, vol.111
, pp. 5704-5711
-
-
Kim, S.Y.S.Y.1
Jun, H.S.2
Mead, P.A.3
Mansfield, B.C.4
Chou, J.Y.5
-
175
-
-
0037443499
-
Inhibition of microsomal glucose-6-phosphate transport in human neutrophils results in apoptosis: a potential explanation for neutrophil dysfunction in glycogen storage disease type 1b
-
Leuzzi R, Bánhegyi G, Kardon T, et al. Inhibition of microsomal glucose-6-phosphate transport in human neutrophils results in apoptosis: a potential explanation for neutrophil dysfunction in glycogen storage disease type 1b. Blood. 2003;101:2381-2387.
-
(2003)
Blood
, vol.101
, pp. 2381-2387
-
-
Leuzzi, R.1
Bánhegyi, G.2
Kardon, T.3
-
176
-
-
10744222849
-
Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter
-
Chen LY, Shieh JJ, Lin B, et al. Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter. Hum Mol Genet. 2003;12:2547-2558.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2547-2558
-
-
Chen, L.Y.1
Shieh, J.J.2
Lin, B.3
-
177
-
-
84900400413
-
Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib
-
Jun HS, Weinstein DA, Lee YM, Mansfield BC, Chou JY. Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. Blood. 2014;123:2843-2853.
-
(2014)
Blood
, vol.123
, pp. 2843-2853
-
-
Jun, H.S.1
Weinstein, D.A.2
Lee, Y.M.3
Mansfield, B.C.4
Chou, J.Y.5
-
178
-
-
84974730910
-
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
-
Ng BG, et al. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat. 2016;7:653-660.
-
(2016)
Hum Mutat
, vol.7
, pp. 653-660
-
-
Ng, B.G.1
-
179
-
-
85009921397
-
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature
-
Marques-da-Silva D, dos Reis Ferreira V, Monticelli M, et al. Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. J Inherit Metab Dis. 2017;40:195-207.
-
(2017)
J Inherit Metab Dis
, vol.40
, pp. 195-207
-
-
Marques-da-Silva, D.1
dos Reis Ferreira, V.2
Monticelli, M.3
-
180
-
-
84983341680
-
Congenital nephrotic syndrome in an infant with ALG1 -congenital disorder of glycosylation
-
Harshman LA, Ng BG, Freeze HH, et al. Congenital nephrotic syndrome in an infant with ALG1 -congenital disorder of glycosylation. Pediatr Int. 2016;58:785-788.
-
(2016)
Pediatr Int
, vol.58
, pp. 785-788
-
-
Harshman, L.A.1
Ng, B.G.2
Freeze, H.H.3
-
181
-
-
85015407727
-
Electroclinical features of early-onset epileptic encephalopathies in congenital disorders of glycosylation (CDGs)
-
Fiumara A, Barone R, Del Campo G, Striano P, Jaeken J. Electroclinical features of early-onset epileptic encephalopathies in congenital disorders of glycosylation (CDGs). JIMD Rep. 2015;27:93-99.
-
(2015)
JIMD Rep
, vol.27
, pp. 93-99
-
-
Fiumara, A.1
Barone, R.2
Del Campo, G.3
Striano, P.4
Jaeken, J.5
-
182
-
-
84874818330
-
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
-
Cossins J, Belaya K, Hicks D, et al. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain. 2013;136:944-956.
-
(2013)
Brain
, vol.136
, pp. 944-956
-
-
Cossins, J.1
Belaya, K.2
Hicks, D.3
-
183
-
-
85036571217
-
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects
-
Rujano MA, Cannata Serio M, Panasyuk G, et al. Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects. J Exp Med. 2017;214:3707-3729.
-
(2017)
J Exp Med
, vol.214
, pp. 3707-3729
-
-
Rujano, M.A.1
Cannata Serio, M.2
Panasyuk, G.3
-
184
-
-
85028469036
-
Atp6ap2 ablation in adult mice impairs viability through multiple organ deficiencies
-
Wendling O, Champy MF, Jaubert S, et al. Atp6ap2 ablation in adult mice impairs viability through multiple organ deficiencies. Sci Rep. 2017;7(9618).
-
(2017)
Sci Rep
, vol.7
, Issue.9618
-
-
Wendling, O.1
Champy, M.F.2
Jaubert, S.3
-
185
-
-
84924087900
-
A functional (pro)renin receptor is expressed in human lymphocytes and monocytes
-
Narumi K, Hirose T, Sato E, et al. A functional (pro)renin receptor is expressed in human lymphocytes and monocytes. Am J Physiol Physiol. 2015;308:F487-F499.
-
(2015)
Am J Physiol Physiol
, vol.308
, pp. F487-F499
-
-
Narumi, K.1
Hirose, T.2
Sato, E.3
-
186
-
-
30944469631
-
Renin increases mesangial cell transforming growth factor-β1 and matrix proteins through receptor-mediated, angiotensin II-independent mechanisms
-
Huang Y, Wongamorntham S, Kasting J, et al. Renin increases mesangial cell transforming growth factor-β1 and matrix proteins through receptor-mediated, angiotensin II-independent mechanisms. Kidney Int. 2006;69:105-113.
-
(2006)
Kidney Int
, vol.69
, pp. 105-113
-
-
Huang, Y.1
Wongamorntham, S.2
Kasting, J.3
-
187
-
-
84919481941
-
Expression of prorenin receptor in renal biopsies from patients with IgA nephropathy
-
Miyazaki N et al. Expression of prorenin receptor in renal biopsies from patients with IgA nephropathy. Int J Clin Exp Pathol. 2014;7:7485-7496.
-
(2014)
Int J Clin Exp Pathol
, vol.7
, pp. 7485-7496
-
-
Miyazaki, N.1
-
188
-
-
85045052465
-
Prediction of response to medical therapy by serum soluble (pro)renin receptor levels in Graves' disease
-
Mizuguchi Y, Morimoto S, Kimura S, et al. Prediction of response to medical therapy by serum soluble (pro)renin receptor levels in Graves' disease. PLoS One. 2018;13:e0195464.
-
(2018)
PLoS One
, vol.13
-
-
Mizuguchi, Y.1
Morimoto, S.2
Kimura, S.3
-
189
-
-
79953307656
-
Loss of intestinal core 1–derived O-glycans causes spontaneous colitis in mice
-
Fu J, Wei B, Wen T, et al. Loss of intestinal core 1–derived O-glycans causes spontaneous colitis in mice. J Clin Invest. 2011;121:1657-1666.
-
(2011)
J Clin Invest
, vol.121
, pp. 1657-1666
-
-
Fu, J.1
Wei, B.2
Wen, T.3
-
190
-
-
47649092777
-
New mutations in C1GALT1C1 in individuals with Tn positive phenotype
-
Karamatic CV et al. New mutations in C1GALT1C1 in individuals with Tn positive phenotype. Science (80-.). 2008;142:657-667.
-
(2008)
Science (80-.)
, vol.142
, pp. 657-667
-
-
Karamatic, C.V.1
-
191
-
-
27644442375
-
Chaperone mutation in Tn syndrome
-
Ju T, Cummings RDP g. Chaperone mutation in Tn syndrome. Nature. 2005;437:1252.
-
(2005)
Nature
, vol.437
, pp. 1252
-
-
Ju, T.1
Cummings, R.D.P.G.2
-
192
-
-
78649499628
-
Down-regulation of core 1 β1,3-galactosyltransferase and Cosmc by Th2 cytokine alters O-glycosylation of IgA1
-
Yamada K, Kobayashi N, Ikeda T, et al. Down-regulation of core 1 β1,3-galactosyltransferase and Cosmc by Th2 cytokine alters O-glycosylation of IgA1. Nephrol Dial Transplant. 2010;25:3890-3897.
-
(2010)
Nephrol Dial Transplant
, vol.25
, pp. 3890-3897
-
-
Yamada, K.1
Kobayashi, N.2
Ikeda, T.3
-
193
-
-
84922353687
-
DNA methylation in Cosmc promoter region and aberrantly glycosylated IgA1 associated with pediatric IgA nephropathy
-
Sun Q, Zhang J, Zhou N, Liu X, Shen Y. DNA methylation in Cosmc promoter region and aberrantly glycosylated IgA1 associated with pediatric IgA nephropathy. PLoS One. 2015;10:e0112305.
-
(2015)
PLoS One
, vol.10
-
-
Sun, Q.1
Zhang, J.2
Zhou, N.3
Liu, X.4
Shen, Y.5
-
194
-
-
85009064157
-
TGF-β1 mimics the effect of IL-4 on the glycosylation of IgA1 by downregulating core 1 β1, 3-galactosyltransferase and Cosmc
-
Xiao J, Wang M, Xiong D, et al. TGF-β1 mimics the effect of IL-4 on the glycosylation of IgA1 by downregulating core 1 β1, 3-galactosyltransferase and Cosmc. Mol Med Rep. 2017;15:969-974.
-
(2017)
Mol Med Rep
, vol.15
, pp. 969-974
-
-
Xiao, J.1
Wang, M.2
Xiong, D.3
-
195
-
-
84885048703
-
Activation of the interleukin-4/signal transducer and activator of transcription 6 signaling pathway and homeodomain-interacting protein kinase 2 production by tonsillar mononuclear cells in IgA nephropathy
-
He L, Peng Y, Liu H, et al. Activation of the interleukin-4/signal transducer and activator of transcription 6 signaling pathway and homeodomain-interacting protein kinase 2 production by tonsillar mononuclear cells in IgA nephropathy. Am J Nephrol. 2013;38:321-332.
-
(2013)
Am J Nephrol
, vol.38
, pp. 321-332
-
-
He, L.1
Peng, Y.2
Liu, H.3
-
196
-
-
84959464940
-
Increased MIR-374b promotes cell proliferation and the production of aberrant glycosylated IgA1 in B cells of IgA nephropathy
-
Hu S, Bao H, Xu X, et al. Increased MIR-374b promotes cell proliferation and the production of aberrant glycosylated IgA1 in B cells of IgA nephropathy. FEBS Lett. 2015;589:4019-4025.
-
(2015)
FEBS Lett
, vol.589
, pp. 4019-4025
-
-
Hu, S.1
Bao, H.2
Xu, X.3
-
197
-
-
84992724784
-
MicroRNA-155-induced T lymphocyte subgroup drifting in IgA nephropathy
-
Yang L, Zhang XY, Peng W, Wei M, Qin W. MicroRNA-155-induced T lymphocyte subgroup drifting in IgA nephropathy. Int Urol Nephrol. 2017;49:353-361.
-
(2017)
Int Urol Nephrol
, vol.49
, pp. 353-361
-
-
Yang, L.1
Zhang, X.Y.2
Peng, W.3
Wei, M.4
Qin, W.5
-
198
-
-
85049085038
-
Interleukin-17 promotes the production of underglycosylated IgA1 in DAKIKI cells
-
Lin JR, Wen J, Zhang H, et al. Interleukin-17 promotes the production of underglycosylated IgA1 in DAKIKI cells. Ren Fail. 2018;40:60-67.
-
(2018)
Ren Fail
, vol.40
, pp. 60-67
-
-
Lin, J.R.1
Wen, J.2
Zhang, H.3
-
199
-
-
84884553850
-
Human T cell activation results in extracellular signal-regulated kinase (ERK)-calcineurin-dependent exposure of Tn antigen on the cell surface and binding of the macrophage galactose-type lectin (MGL)
-
Van Vliet SJ et al. Human T cell activation results in extracellular signal-regulated kinase (ERK)-calcineurin-dependent exposure of Tn antigen on the cell surface and binding of the macrophage galactose-type lectin (MGL). J Biol Chem. 2013;288:27519-27532.
-
(2013)
J Biol Chem
, vol.288
, pp. 27519-27532
-
-
Van Vliet, S.J.1
-
200
-
-
77249144793
-
The role of C1GALT1C1 in lipopolysaccharide-induced IgA1 aberrant O-glycosylation in IgA nephropathy
-
Xie LS, Qin W, Fan JM, Huang J, Xie XS. The role of C1GALT1C1 in lipopolysaccharide-induced IgA1 aberrant O-glycosylation in IgA nephropathy. Clin Investig Med. 2010;33:e5-e13.
-
(2010)
Clin Investig Med
, vol.33
, pp. e5-e13
-
-
Xie, L.S.1
Qin, W.2
Fan, J.M.3
Huang, J.4
Xie, X.S.5
-
201
-
-
84902302552
-
Astragalus membranaceus up-regulate Cosmc expression and reverse IgA dys-glycosylation in IgA nephropathy
-
Ji L, Chen XL, Zhong X, et al. Astragalus membranaceus up-regulate Cosmc expression and reverse IgA dys-glycosylation in IgA nephropathy. BMC Complement Altern Med. 2014;14(195).
-
(2014)
BMC Complement Altern Med
, vol.14
, Issue.195
-
-
Ji, L.1
Chen, X.L.2
Zhong, X.3
-
202
-
-
84894559544
-
CagA, a major virulence factor of helicobacter pylori, promotes the production and underglycosylation of IgA1 in DAKIKI cells
-
Yang M, Li FG, Xie XS, Wang SQ, Fan JM. CagA, a major virulence factor of helicobacter pylori, promotes the production and underglycosylation of IgA1 in DAKIKI cells. Biochem Biophys Res Commun. 2014;444:276-281.
-
(2014)
Biochem Biophys Res Commun
, vol.444
, pp. 276-281
-
-
Yang, M.1
Li, F.G.2
Xie, X.S.3
Wang, S.Q.4
Fan, J.M.5
-
203
-
-
85046622138
-
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)
-
Li G et al. Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG). Eur J Med Genet. 2018;62:44-46.
-
(2018)
Eur J Med Genet
, vol.62
, pp. 44-46
-
-
Li, G.1
-
204
-
-
85060344100
-
Secondary Hemophagocytic syndrome associated with COG6 gene defect: report and review
-
Althonaian N, Alsultan A, Morava E, Alfadhel M. Secondary Hemophagocytic syndrome associated with COG6 gene defect: report and review. JIMD Rep. 2018;42:105-111.
-
(2018)
JIMD Rep
, vol.42
, pp. 105-111
-
-
Althonaian, N.1
Alsultan, A.2
Morava, E.3
Alfadhel, M.4
-
205
-
-
84962498653
-
Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression
-
Cavalli M, Pan G, Nord H, et al. Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression. Hum Genet. 2016;135:485-497.
-
(2016)
Hum Genet
, vol.135
, pp. 485-497
-
-
Cavalli, M.1
Pan, G.2
Nord, H.3
-
206
-
-
84969940768
-
A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus
-
Márquez A, Vidal-Bralo L, Rodríguez-Rodríguez L, et al. A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus. Ann Rheum Dis. 2017;76:286-294.
-
(2017)
Ann Rheum Dis
, vol.76
, pp. 286-294
-
-
Márquez, A.1
Vidal-Bralo, L.2
Rodríguez-Rodríguez, L.3
-
207
-
-
85028611929
-
Dolichol kinase deficiency (DOLK-CDG): two new cases and expansion of phenotype
-
Rush ET, Baker CV, Rizzo WB. Dolichol kinase deficiency (DOLK-CDG): two new cases and expansion of phenotype. Am J Med Genet A. 2017;173:2428-2434.
-
(2017)
Am J Med Genet A
, vol.173
, pp. 2428-2434
-
-
Rush, E.T.1
Baker, C.V.2
Rizzo, W.B.3
-
208
-
-
84988385354
-
Phenotypic and genotypic characterization and treatment of a cohort with familial Tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome
-
Ramnitz MS, Gourh P, Goldbach-Mansky R, et al. Phenotypic and genotypic characterization and treatment of a cohort with familial Tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome. J Bone Miner Res. 2016;31:1845-1854.
-
(2016)
J Bone Miner Res
, vol.31
, pp. 1845-1854
-
-
Ramnitz, M.S.1
Gourh, P.2
Goldbach-Mansky, R.3
-
209
-
-
0027930443
-
Carbohydrate deficient glycoprotein syndrome type II: a deficiency in golgi localised n-acetyl-glucosaminyltransferase II
-
Jaeken J, Schachter H, Carchon H, de Cock P, Coddeville B, Spik G. Carbohydrate deficient glycoprotein syndrome type II: a deficiency in golgi localised n-acetyl-glucosaminyltransferase II. Arch Dis Child. 1994;71:123-127.
-
(1994)
Arch Dis Child
, vol.71
, pp. 123-127
-
-
Jaeken, J.1
Schachter, H.2
Carchon, H.3
de Cock, P.4
Coddeville, B.5
Spik, G.6
-
210
-
-
85026311330
-
Congenital disorders of glycosylation: The Saudi experience
-
Alsubhi S et al. Congenital disorders of glycosylation: The Saudi experience. Am J Med Genet A. 2017;173:2614-2621.
-
(2017)
Am J Med Genet A
, vol.173
, pp. 2614-2621
-
-
Alsubhi, S.1
-
211
-
-
84990889999
-
Dendritic cell-specific Mgat2 knockout mice show antigen presentation defects but reveal an unexpected CD11c expression pattern
-
Jones MB, Ryan SO, Johnson JL, Cobb BA. Dendritic cell-specific Mgat2 knockout mice show antigen presentation defects but reveal an unexpected CD11c expression pattern. Glycobiology. 2016;26:1007-1013.
-
(2016)
Glycobiology
, vol.26
, pp. 1007-1013
-
-
Jones, M.B.1
Ryan, S.O.2
Johnson, J.L.3
Cobb, B.A.4
-
212
-
-
84894247278
-
Mgat2 ablation in the myeloid lineage leads to defective glycoantigen T cell responses
-
Ryan SO, Leal SM, Abbott DW, Pearlman E, Cobb BA. Mgat2 ablation in the myeloid lineage leads to defective glycoantigen T cell responses. Glycobiology. 2014;24:262-271.
-
(2014)
Glycobiology
, vol.24
, pp. 262-271
-
-
Ryan, S.O.1
Leal, S.M.2
Abbott, D.W.3
Pearlman, E.4
Cobb, B.A.5
-
213
-
-
84902193130
-
Myeloid glycosylation defects Lead to a spontaneous common variable immunodeficiency-like condition with associated hemolytic Anemia and Antilymphocyte autoimmunity
-
Ryan SO, Abbott DW, Cobb BA. Myeloid glycosylation defects Lead to a spontaneous common variable immunodeficiency-like condition with associated hemolytic Anemia and Antilymphocyte autoimmunity. J Immunol. 2014;192:5561-5570.
-
(2014)
J Immunol
, vol.192
, pp. 5561-5570
-
-
Ryan, S.O.1
Abbott, D.W.2
Cobb, B.A.3
-
214
-
-
85042509697
-
Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): evidence for hypoglycosylation-driven channelopathy
-
Izquierdo-Serra M, Martínez-Monseny A, López L, et al. Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): evidence for hypoglycosylation-driven channelopathy. Int J Mol Sci. 2018;19:619.
-
(2018)
Int J Mol Sci
, vol.19
, pp. 619
-
-
Izquierdo-Serra, M.1
Martínez-Monseny, A.2
López, L.3
-
215
-
-
85051706348
-
Clinical manifestation of hyper IgE syndrome including otitis media
-
Wu J, Hong L, Chen TX. Clinical manifestation of hyper IgE syndrome including otitis media. Curr Allergy Asthma Rep. 2018;18(51):51.
-
(2018)
Curr Allergy Asthma Rep
, vol.18
, Issue.51
, pp. 51
-
-
Wu, J.1
Hong, L.2
Chen, T.X.3
-
216
-
-
85056191504
-
Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls
-
Asteggiano CG, Papazoglu M, Bistué Millón MB, et al. Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls. Pediatr Res. 2018;84:837-841.
-
(2018)
Pediatr Res
, vol.84
, pp. 837-841
-
-
Asteggiano, C.G.1
Papazoglu, M.2
Bistué Millón, M.B.3
-
217
-
-
85006355164
-
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders
-
Riley LG, Cowley MJ, Gayevskiy V, et al. A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. J Inherit Metab Dis. 2017;40:261-269.
-
(2017)
J Inherit Metab Dis
, vol.40
, pp. 261-269
-
-
Riley, L.G.1
Cowley, M.J.2
Gayevskiy, V.3
-
218
-
-
84951834497
-
SLC39A8 deficiency: a disorder of manganese transport and glycosylation
-
Park JH et al. SLC39A8 deficiency: a disorder of manganese transport and glycosylation. Am J Hum Genet. 2015;97:894-903.
-
(2015)
Am J Hum Genet
, vol.97
, pp. 894-903
-
-
Park, J.H.1
-
219
-
-
84951847381
-
Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8
-
Boycott KM, Beaulieu CL, Kernohan KD, et al. Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8. Am J Hum Genet. 2015;97:886-893.
-
(2015)
Am J Hum Genet
, vol.97
, pp. 886-893
-
-
Boycott, K.M.1
Beaulieu, C.L.2
Kernohan, K.D.3
-
220
-
-
84989894301
-
A pleiotropic missense variant in SLC39A8 is associated with Crohn's disease and human gut microbiome composition
-
Li D, Achkar JP, Haritunians T, et al. A pleiotropic missense variant in SLC39A8 is associated with Crohn's disease and human gut microbiome composition. Gastroenterology. 2016;151:724-732.
-
(2016)
Gastroenterology
, vol.151
, pp. 724-732
-
-
Li, D.1
Achkar, J.P.2
Haritunians, T.3
-
221
-
-
85051301835
-
Human hyper-IgE syndrome: singular or plural?
-
Zhang Q, Boisson B, Béziat V, Puel A, Casanova J-LL. Human hyper-IgE syndrome: singular or plural? Mamm Genome. 2018;29:603-617.
-
(2018)
Mamm Genome
, vol.29
, pp. 603-617
-
-
Zhang, Q.1
Boisson, B.2
Béziat, V.3
Puel, A.4
Casanova, J.-L.L.5
-
222
-
-
84901045911
-
Tissue-specific induction of mouse ZIP8 and ZIP14 divalent cation/bicarbonate symporters by, and cytokine response to, inflammatory signals
-
Gálvez-Peralta M, Wang Z, Bao S, Knoell DL, Nebert DW. Tissue-specific induction of mouse ZIP8 and ZIP14 divalent cation/bicarbonate symporters by, and cytokine response to, inflammatory signals. Int J Toxicol. 2014;33:246-258.
-
(2014)
Int J Toxicol
, vol.33
, pp. 246-258
-
-
Gálvez-Peralta, M.1
Wang, Z.2
Bao, S.3
Knoell, D.L.4
Nebert, D.W.5
-
223
-
-
84871225966
-
Zip8 zinc transporter: indispensable role for both multiple-organ organogenesis and hematopoiesis in utero
-
Gálvez-Peralta M, He L, Jorge-Nebert LF, et al. Zip8 zinc transporter: indispensable role for both multiple-organ organogenesis and hematopoiesis in utero. PLoS One. 2012;7:e36055.
-
(2012)
PLoS One
, vol.7
-
-
Gálvez-Peralta, M.1
He, L.2
Jorge-Nebert, L.F.3
-
224
-
-
85050366352
-
In utero gene expression in the Slc39a8(neo/neo) knockdown mouse
-
Chen J et al. In utero gene expression in the Slc39a8(neo/neo) knockdown mouse. Sci Rep. 2018;8:1-14.
-
(2018)
Sci Rep
, vol.8
, pp. 1-14
-
-
Chen, J.1
-
225
-
-
84897550725
-
Cohen syndrome is associated with major glycosylation defects
-
Duplomb L et al. Cohen syndrome is associated with major glycosylation defects. Hum Mol Genet. 2013;23:2391-2399.
-
(2013)
Hum Mol Genet
, vol.23
, pp. 2391-2399
-
-
Duplomb, L.1
-
226
-
-
69549118484
-
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome
-
Balikova I, Lehesjoki AE, de Ravel TJL, et al. Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. Hum Mutat. 2009;30(845–854):E845-E854.
-
(2009)
Hum Mutat
, vol.30
, Issue.845-854
, pp. E845-E854
-
-
Balikova, I.1
Lehesjoki, A.E.2
de Ravel, T.J.L.3
-
227
-
-
33644644778
-
Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance?
-
Khan A, Chandler K, Pimenides D, Black GCM, Manson FDC. Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance? Br J Ophthalmol. 2006;90:390-391.
-
(2006)
Br J Ophthalmol
, vol.90
, pp. 390-391
-
-
Khan, A.1
Chandler, K.2
Pimenides, D.3
Black, G.C.M.4
Manson, F.D.C.5
-
228
-
-
0038353767
-
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport
-
Kolehmainen J, Black GCM, Saarinen A, et al. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet. 2003;72:1359-1369.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1359-1369
-
-
Kolehmainen, J.1
Black, G.C.M.2
Saarinen, A.3
-
229
-
-
3042688326
-
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen
-
Kolehmainen J, Wilkinson R, Lehesjoki AE, et al. Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. Am J Hum Genet. 2004;75:122-127.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 122-127
-
-
Kolehmainen, J.1
Wilkinson, R.2
Lehesjoki, A.E.3
-
230
-
-
14044255856
-
COH1 analysis and linkage study in two Japanese families with Cohen syndrome
-
Kondo I, Shimizu A, Asakawa S, et al. COH1 analysis and linkage study in two Japanese families with Cohen syndrome. Clin Genet. 2005;67:270-272.
-
(2005)
Clin Genet
, vol.67
, pp. 270-272
-
-
Kondo, I.1
Shimizu, A.2
Asakawa, S.3
-
231
-
-
85068161017
-
Broader geographical spectrum of Cohen syndrome due to COH1 mutations
-
Mochida GH et al. Broader geographical spectrum of Cohen syndrome due to COH1 mutations. J Med Genet. 2004;41:1-4.
-
(2004)
J Med Genet
, vol.41
, pp. 1-4
-
-
Mochida, G.H.1
-
232
-
-
77957154320
-
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome
-
Parri V, Katzaki E, Uliana V, et al. High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. Eur J Hum Genet. 2010;18:1133-1140.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 1133-1140
-
-
Parri, V.1
Katzaki, E.2
Uliana, V.3
-
233
-
-
84925937992
-
Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients
-
Prokudin I, Li D, He S, et al. Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients. Clin Experiment Ophthalmol. 2015;43:132-138.
-
(2015)
Clin Experiment Ophthalmol
, vol.43
, pp. 132-138
-
-
Prokudin, I.1
Li, D.2
He, S.3
-
234
-
-
84933512215
-
Novel VPS13B mutations in three large Pakistani Cohen syndrome families suggests a Baloch variant with autistic-like features
-
Rafiq MA, Leblond CS, Saqib MAN, et al. Novel VPS13B mutations in three large Pakistani Cohen syndrome families suggests a Baloch variant with autistic-like features. BMC Med Genet. 2015;16(41):41.
-
(2015)
BMC Med Genet
, vol.16
, Issue.41
, pp. 41
-
-
Rafiq, M.A.1
Leblond, C.S.2
Saqib, M.A.N.3
-
235
-
-
85034061459
-
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
-
Rejeb I et al. First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations. BMC Med Genet. 2017;18:1-5.
-
(2017)
BMC Med Genet
, vol.18
, pp. 1-5
-
-
Rejeb, I.1
-
236
-
-
33745961896
-
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome
-
Seifert W et al. Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. J Med Genet. 2006;43:1-6.
-
(2006)
J Med Genet
, vol.43
, pp. 1-6
-
-
Seifert, W.1
-
237
-
-
51449102096
-
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek Island population
-
Bugiani M et al. Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek Island population. Am. J. Med. Genet. Part A. 2008;146:2221-2226.
-
(2008)
Am. J. Med. Genet. Part A
, vol.146
, pp. 2221-2226
-
-
Bugiani, M.1
-
238
-
-
64049096972
-
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1
-
Seifert W, Holder-Espinasse M, Kühnisch J, et al. Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Hum Mutat. 2009;30(404–420):E404-E420.
-
(2009)
Hum Mutat
, vol.30
, Issue.404-420
, pp. E404-E420
-
-
Seifert, W.1
Holder-Espinasse, M.2
Kühnisch, J.3
-
239
-
-
85045151262
-
Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome
-
Uyhazi KE, Binenbaum G, Carducci N, Zackai EH, Aleman TS. Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome. Ophthalmic Genet. 2018;39:399-404.
-
(2018)
Ophthalmic Genet
, vol.39
, pp. 399-404
-
-
Uyhazi, K.E.1
Binenbaum, G.2
Carducci, N.3
Zackai, E.H.4
Aleman, T.S.5
-
240
-
-
85047398049
-
Gene analysis: a rare gene disease of intellectual deficiency-Cohen syndrome
-
Yang C, Hou M, Li Y, et al. Gene analysis: a rare gene disease of intellectual deficiency-Cohen syndrome. Int J Dev Neurosci. 2018;68:83-88.
-
(2018)
Int J Dev Neurosci
, vol.68
, pp. 83-88
-
-
Yang, C.1
Hou, M.2
Li, Y.3
-
241
-
-
85068174496
-
Nonleaking cystoid macular edema in Cohen syndrome
-
Beck KD, Wong RW, Gibson JB, Harper CA. Nonleaking cystoid macular edema in Cohen syndrome. J. AAPOS. 2018;S1091-8531:30501-30509.
-
(2018)
J. AAPOS
, vol.S1091-8531
, pp. 30501-30509
-
-
Beck, K.D.1
Wong, R.W.2
Gibson, J.B.3
Harper, C.A.4
-
242
-
-
85020964911
-
The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci
-
Gillentine MA, Schaaf CP, Patel A. The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci. Am J Med Genet Part A. 2017;173:2485-2488.
-
(2017)
Am J Med Genet Part A
, vol.173
, pp. 2485-2488
-
-
Gillentine, M.A.1
Schaaf, C.P.2
Patel, A.3
-
243
-
-
85058045607
-
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases
-
Carneiro T, Krepischi A, Souza da Costa S, et al. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. Appl Clin Genet. 2018;11:93-98.
-
(2018)
Appl Clin Genet
, vol.11
, pp. 93-98
-
-
Carneiro, T.1
Krepischi, A.2
Souza da Costa, S.3
-
244
-
-
84995414732
-
Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication
-
Dastan J et al. Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication. BMC Med Genet. 2016;17:1-6.
-
(2016)
BMC Med Genet
, vol.17
, pp. 1-6
-
-
Dastan, J.1
-
245
-
-
77956099264
-
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome
-
El Chehadeh S et al. Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. J Med Genet. 2010;47:549-553.
-
(2010)
J Med Genet
, vol.47
, pp. 549-553
-
-
El Chehadeh, S.1
-
246
-
-
84879411756
-
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis
-
El Chehadeh-Djebbar S et al. Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. Eur J Hum Genet. 2013;21:736-742.
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 736-742
-
-
El Chehadeh-Djebbar, S.1
-
248
-
-
84892883226
-
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations
-
Gueneau L, Duplomb L, Sarda P, et al. Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations. Am. J. Med. Genet. Part A. 2014;164:522-527.
-
(2014)
Am. J. Med. Genet. Part A
, vol.164
, pp. 522-527
-
-
Gueneau, L.1
Duplomb, L.2
Sarda, P.3
-
249
-
-
36448942590
-
Clinical and molecular characterization of Italian patients affected by Cohen syndrome
-
Katzaki E, Pescucci C, Uliana V, et al. Clinical and molecular characterization of Italian patients affected by Cohen syndrome. J Hum Genet. 2007;52:1011-1017.
-
(2007)
J Hum Genet
, vol.52
, pp. 1011-1017
-
-
Katzaki, E.1
Pescucci, C.2
Uliana, V.3
-
250
-
-
0034608284
-
Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3—8q22.1: redefining a clinical entity
-
Horn D, Krebsová A, Kunze J, Reis A. Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3—8q22.1: redefining a clinical entity. Am J Med Genet. 2000;92:285-292.
-
(2000)
Am J Med Genet
, vol.92
, pp. 285-292
-
-
Horn, D.1
Krebsová, A.2
Kunze, J.3
Reis, A.4
-
251
-
-
80054805821
-
Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity
-
Seifert W, Kühnisch J, Maritzen T, Horn D, Haucke V, Hennies HC. Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. J Biol Chem. 2011;286:37665-37675.
-
(2011)
J Biol Chem
, vol.286
, pp. 37665-37675
-
-
Seifert, W.1
Kühnisch, J.2
Maritzen, T.3
Horn, D.4
Haucke, V.5
Hennies, H.C.6
-
253
-
-
84880742736
-
Mycophenolic acid reverses IgA1 aberrant glycosylation through up-regulating Cosmc expression in IgA nephropathy
-
Xie L, Tan C, Fan J, et al. Mycophenolic acid reverses IgA1 aberrant glycosylation through up-regulating Cosmc expression in IgA nephropathy. Int Urol Nephrol. 2013;45:571-579.
-
(2013)
Int Urol Nephrol
, vol.45
, pp. 571-579
-
-
Xie, L.1
Tan, C.2
Fan, J.3
-
254
-
-
0035254520
-
Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl-Lewis-X antigen in leukocytes—a new syndrome?
-
Willig TN et al. Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl-Lewis-X antigen in leukocytes—a new syndrome? Blood. 2001;97:826-828.
-
(2001)
Blood
, vol.97
, pp. 826-828
-
-
Willig, T.N.1
-
255
-
-
78149440203
-
Global analysis of circulating immune cells by matrix-assisted laser desorption ionization time-of-flight mass spectrometry
-
Ouedraogo R, Flaudrops C, Ben Amara A, Capo C, Raoult D, Mege JL. Global analysis of circulating immune cells by matrix-assisted laser desorption ionization time-of-flight mass spectrometry. PLoS One. 2010;5:e13691.
-
(2010)
PLoS One
, vol.5
-
-
Ouedraogo, R.1
Flaudrops, C.2
Ben Amara, A.3
Capo, C.4
Raoult, D.5
Mege, J.L.6
-
256
-
-
0037474276
-
The absence of fucose but not the presence of galactose or bisecting N-acetylglucosamine of human IgG1 complex-type oligosaccharides shows the critical role of enhancing antibody-dependent cellular cytotoxicity
-
Shinkawa T, Nakamura K, Yamane N, et al. The absence of fucose but not the presence of galactose or bisecting N-acetylglucosamine of human IgG1 complex-type oligosaccharides shows the critical role of enhancing antibody-dependent cellular cytotoxicity. J Biol Chem. 2003;278:3466-3473.
-
(2003)
J Biol Chem
, vol.278
, pp. 3466-3473
-
-
Shinkawa, T.1
Nakamura, K.2
Yamane, N.3
-
257
-
-
33845590523
-
Comparison of biological activity among nonfucosylated therapeutic IgG1 antibodies with three different N-linked fc oligosaccharides: the high-mannose, hybrid, and complex types
-
Kanda Y, Yamada T, Mori K, et al. Comparison of biological activity among nonfucosylated therapeutic IgG1 antibodies with three different N-linked fc oligosaccharides: the high-mannose, hybrid, and complex types. Glycobiology. 2007;17:104-118.
-
(2007)
Glycobiology
, vol.17
, pp. 104-118
-
-
Kanda, Y.1
Yamada, T.2
Mori, K.3
-
258
-
-
84944158888
-
Fucosylated surfactant protein-D is a biomarker candidate for the development of chronic obstructive pulmonary disease
-
Ito E, Oka R, Ishii T, et al. Fucosylated surfactant protein-D is a biomarker candidate for the development of chronic obstructive pulmonary disease. J Proteomics. 2015;127:386-394.
-
(2015)
J Proteomics
, vol.127
, pp. 386-394
-
-
Ito, E.1
Oka, R.2
Ishii, T.3
-
259
-
-
85026879522
-
Blockage of Core Fucosylation reduces cell-surface expression of PD-1 and promotes anti-tumor immune responses of T cells
-
Okada M, Chikuma S, Kondo T, et al. Blockage of Core Fucosylation reduces cell-surface expression of PD-1 and promotes anti-tumor immune responses of T cells. Cell Rep. 2017;20:1017-1028.
-
(2017)
Cell Rep
, vol.20
, pp. 1017-1028
-
-
Okada, M.1
Chikuma, S.2
Kondo, T.3
-
260
-
-
84937557211
-
Ac45 silencing mediated by AAV-sh-Ac45-RNAi prevents both bone loss and inflammation caused by periodontitis
-
Zhu Z, Chen W, Hao L, et al. Ac45 silencing mediated by AAV-sh-Ac45-RNAi prevents both bone loss and inflammation caused by periodontitis. J Clin Periodontol. 2015;42:599-608.
-
(2015)
J Clin Periodontol
, vol.42
, pp. 599-608
-
-
Zhu, Z.1
Chen, W.2
Hao, L.3
-
261
-
-
85051390023
-
Immunoglobulin G glycosylation in aging and diseases
-
Gudelj I, Lauc G, Pezer M. Immunoglobulin G glycosylation in aging and diseases. Cell Immunol. 2018;333:65-79.
-
(2018)
Cell Immunol
, vol.333
, pp. 65-79
-
-
Gudelj, I.1
Lauc, G.2
Pezer, M.3
-
262
-
-
84958074687
-
Influenza a virus-induced expression of a GalNAc transferase, GALNT3, via MicroRNAs is required for enhanced viral replication
-
Nakamura S, Horie M, Daidoji T, et al. Influenza a virus-induced expression of a GalNAc transferase, GALNT3, via MicroRNAs is required for enhanced viral replication. J Virol. 2016;90:1788-1801.
-
(2016)
J Virol
, vol.90
, pp. 1788-1801
-
-
Nakamura, S.1
Horie, M.2
Daidoji, T.3
-
263
-
-
85051089482
-
GALNT3 inhibits NF-κB signaling during influenza a virus infection
-
Wang B, Zhang Y, Jiang W, et al. GALNT3 inhibits NF-κB signaling during influenza a virus infection. Biochem Biophys Res Commun. 2018;503:2872-2877.
-
(2018)
Biochem Biophys Res Commun
, vol.503
, pp. 2872-2877
-
-
Wang, B.1
Zhang, Y.2
Jiang, W.3
-
264
-
-
85016408740
-
Insights from NMR spectroscopy into the conformational properties of Man-9 and its recognition by two HIV binding proteins
-
Shahzad-ul-Hussan S, Sastry M, Lemmin T, et al. Insights from NMR spectroscopy into the conformational properties of Man-9 and its recognition by two HIV binding proteins. Chembiochem. 2017;18:764-771.
-
(2017)
Chembiochem
, vol.18
, pp. 764-771
-
-
Shahzad-ul-Hussan, S.1
Sastry, M.2
Lemmin, T.3
-
265
-
-
84863982840
-
TMEM165 deficiency causes a congenital disorder of glycosylation
-
Foulquier F, Amyere M, Jaeken J, et al. TMEM165 deficiency causes a congenital disorder of glycosylation. Am J Hum Genet. 2012;91:15-26.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 15-26
-
-
Foulquier, F.1
Amyere, M.2
Jaeken, J.3
-
266
-
-
84885475394
-
Bone dysplasia as a key feature in three patients with a novel congenital disorder of glycosylation (CDG) type II due to a deep Intronic splice mutation in TMEM165
-
Zeevaert R et al. Bone dysplasia as a key feature in three patients with a novel congenital disorder of glycosylation (CDG) type II due to a deep Intronic splice mutation in TMEM165. JIMD Rep. 2013;8:145-152.
-
(2013)
JIMD Rep.
, vol.8
, pp. 145-152
-
-
Zeevaert, R.1
-
267
-
-
84874232263
-
ZIP8 regulates host defense through zinc-mediated inhibition of NF-κB
-
Liu M-J, Bao S, Gálvez-Peralta M, et al. ZIP8 regulates host defense through zinc-mediated inhibition of NF-κB. Cell Rep. 2013;3:386-400.
-
(2013)
Cell Rep
, vol.3
, pp. 386-400
-
-
Liu, M.-J.1
Bao, S.2
Gálvez-Peralta, M.3
-
268
-
-
46749131183
-
Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia
-
Truin G, Guillard M, Lefeber DJ, et al. Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. Mol Genet Metab. 2008;94:481-484.
-
(2008)
Mol Genet Metab
, vol.94
, pp. 481-484
-
-
Truin, G.1
Guillard, M.2
Lefeber, D.J.3
-
269
-
-
85058596365
-
Pathogenic variants in Fucokinase cause a congenital disorder of glycosylation
-
Ng BG, Rosenfeld JA, Emrick L, et al. Pathogenic variants in Fucokinase cause a congenital disorder of glycosylation. Am J Hum Genet. 2018;103:1030-1037.
-
(2018)
Am J Hum Genet
, vol.103
, pp. 1030-1037
-
-
Ng, B.G.1
Rosenfeld, J.A.2
Emrick, L.3
-
270
-
-
84861376809
-
Identification of functional elements of the GDP-fucose transporter SLC35C1 using a novel Chinese hamster ovary mutant
-
Zhang P, Haryadi R, Chan KF, et al. Identification of functional elements of the GDP-fucose transporter SLC35C1 using a novel Chinese hamster ovary mutant. Glycobiology. 2012;22:897-911.
-
(2012)
Glycobiology
, vol.22
, pp. 897-911
-
-
Zhang, P.1
Haryadi, R.2
Chan, K.F.3
-
273
-
-
84978877847
-
Golgi self-correction generates bioequivalent glycans to preserve cellular homeostasis
-
Mkhikian H, Mortales CL, Zhou RW, et al. Golgi self-correction generates bioequivalent glycans to preserve cellular homeostasis. Elife. 2016;5:e14814.
-
(2016)
Elife
, vol.5
-
-
Mkhikian, H.1
Mortales, C.L.2
Zhou, R.W.3
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