-
1
-
-
79953045205
-
Genetic defects in severe congenital neutropenia: Emerging insights into life and death of human neutrophil granulocytes
-
Klein C. Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes. Annu Rev Immunol 2011; 29: 399-413.
-
(2011)
Annu Rev Immunol
, vol.29
, pp. 399-413
-
-
Klein, C.1
-
2
-
-
77049235105
-
Infantile genetic agranulocytosis; Agranulocytosis infantilis hereditaria
-
Kostmann R. Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria. Acta paediatrica 1956; 45(Suppl 105): 1-78.
-
(1956)
Acta Paediatrica
, vol.45
, Issue.SUPPL. 105
, pp. 1-78
-
-
Kostmann, R.1
-
3
-
-
58249084744
-
The many causes of severe congenital neutropenia
-
Dale DC, Link DC. The many causes of severe congenital neutropenia. N Engl J Med 2009; 360: 3-5.
-
(2009)
N Engl J Med
, vol.360
, pp. 3-5
-
-
Dale, D.C.1
Link, D.C.2
-
4
-
-
40449124712
-
Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons
-
Chao JR, Parganas E, Boyd K, Hong CY, Opferman JT, Ihle JN. Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons. Nature 2008; 452: 98-102.
-
(2008)
Nature
, vol.452
, pp. 98-102
-
-
Chao, J.R.1
Parganas, E.2
Boyd, K.3
Hong, C.Y.4
Opferman, J.T.5
Ihle, J.N.6
-
6
-
-
33745490496
-
Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response
-
Kollner I, Sodeik B, Schreek S, Heyn H, von Neuhoff N, Germeshausen M et al. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood 2006; 108: 493-500.
-
(2006)
Blood
, vol.108
, pp. 493-500
-
-
Kollner, I.1
Sodeik, B.2
Schreek, S.3
Heyn, H.4
Von Neuhoff, N.5
Germeshausen, M.6
-
7
-
-
39649098272
-
Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis
-
Grenda DS, Murakami M, Ghatak J, Xia J, Boxer LA, Dale D et al. Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. Blood 2007; 110: 4179-4187.
-
(2007)
Blood
, vol.110
, pp. 4179-4187
-
-
Grenda, D.S.1
Murakami, M.2
Ghatak, J.3
Xia, J.4
Boxer, L.A.5
Dale, D.6
-
8
-
-
0033610792
-
Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents
-
Lin B, Annabi B, Hiraiwa H, Pan CJ, Chou JY. Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents. J Biol Chem 1998; 273: 31656-31660.
-
(1998)
J Biol Chem
, vol.273
, pp. 31656-31660
-
-
Lin, B.1
Annabi, B.2
Hiraiwa, H.3
Pan, C.J.4
Chou, J.Y.5
-
9
-
-
0142102538
-
Identification and characterisation of a new human glucose-6-phosphatase isoform
-
Guionie O, Clottes E, Stafford K, Burchell A. Identification and characterisation of a new human glucose-6-phosphatase isoform. FEBS Lett 2003; 551: 159-164.
-
(2003)
FEBS Lett
, vol.551
, pp. 159-164
-
-
Guionie, O.1
Clottes, E.2
Stafford, K.3
Burchell, A.4
-
10
-
-
58249089770
-
A syndrome with congenital neutropenia and mutations in G6PC3
-
Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J et al. A syndrome with congenital neutropenia and 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
Schaffer, A.A.4
Salzer, U.5
Diestelhorst, J.6
-
11
-
-
70350435426
-
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia
-
Xia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC 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
Stein, S.4
Aprikyan, A.A.5
Dale, D.C.6
-
12
-
-
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
-
13
-
-
85028120628
-
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
-
Banka S, Chervinsky E, Newman WG, Crow YJ, Yeganeh S, Yacobovich J 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
Crow, Y.J.4
Yeganeh, S.5
Yacobovich, J.6
-
14
-
-
33847420515
-
Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatasebeta
-
Cheung YY, Kim SY, Yiu WH, Pan CJ, Jun HS, Ruef RA et al. Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatasebeta. J Clin Invest 2007; 117: 784-793.
-
(2007)
J Clin Invest
, vol.117
, pp. 784-793
-
-
Cheung, Y.Y.1
Kim, S.Y.2
Yiu, W.H.3
Pan, C.J.4
Jun, H.S.5
Ruef, R.A.6
-
15
-
-
77957959873
-
Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndrome
-
Jun HS, Lee YM, Cheung YY, McDermott DH, Murphy PM, De Ravin SS et al. Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndrome. Blood 2010; 116: 2783-2792.
-
(2010)
Blood
, vol.116
, pp. 2783-2792
-
-
Jun, H.S.1
Lee, Y.M.2
Cheung, Y.Y.3
McDermott, D.H.4
Murphy, P.M.5
De Ravin, S.S.6
-
16
-
-
79953818388
-
G-CSF improves murine G6PC3- deficient neutrophil function by modulating apoptosis and energy homeostasis
-
Jun HS, Lee YM, Song KD, Mansfield BC, Chou JY. G-CSF improves murine G6PC3- deficient neutrophil function by modulating apoptosis and energy homeostasis. Blood 2011; 117: 3881-3892.
-
(2011)
Blood
, vol.117
, pp. 3881-3892
-
-
Jun, H.S.1
Lee, Y.M.2
Song, K.D.3
Mansfield, B.C.4
Chou, J.Y.5
-
17
-
-
77957943766
-
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis
-
McDermott DH, De Ravin SS, Jun HS, Liu Q, Priel DA, Noel P 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
Liu, Q.4
Priel, D.A.5
Noel, P.6
-
18
-
-
33645318751
-
Quantitative production of macrophages or neutrophils ex vivo using conditional Hoxb8
-
Wang GG, Calvo KR, Pasillas MP, Sykes DB, Hacker H, Kamps MP. Quantitative production of macrophages or neutrophils ex vivo using conditional Hoxb8. Nat Methods 2006; 3: 287-293.
-
(2006)
Nat Methods
, vol.3
, pp. 287-293
-
-
Wang, G.G.1
Calvo, K.R.2
Pasillas, M.P.3
Sykes, D.B.4
Hacker, H.5
Kamps, M.P.6
-
19
-
-
80053958679
-
Molecular analysis of neutrophil spontaneous apoptosis reveals a strong role for the pro-apoptotic BH3-only protein Noxa
-
Kirschnek S, Vier J, Gautam S, Frankenberg T, Rangelova S, Eitz-Ferrer P et al. Molecular analysis of neutrophil spontaneous apoptosis reveals a strong role for the pro-apoptotic BH3-only protein Noxa. Cell Death Differ 2011; 18: 1805-1814.
-
(2011)
Cell Death Differ
, vol.18
, pp. 1805-1814
-
-
Kirschnek, S.1
Vier, J.2
Gautam, S.3
Frankenberg, T.4
Rangelova, S.5
Eitz-Ferrer, P.6
-
20
-
-
78649375771
-
Neutrophils, from marrow to microbes
-
Borregaard N. Neutrophils, from marrow to microbes. Immunity 2010; 33: 657-670.
-
(2010)
Immunity
, vol.33
, pp. 657-670
-
-
Borregaard, N.1
-
21
-
-
33845993648
-
Deletion of the gene encoding the ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein (UGRP)/glucose-6- phosphatase catalytic subunit-beta results in lowered plasma cholesterol and elevated glucagon
-
Wang Y, Oeser JK, Yang C, Sarkar S, Hackl SI, Hasty AH et al. Deletion of the gene encoding the ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein (UGRP)/glucose-6-phosphatase catalytic subunit-beta results in lowered plasma cholesterol and elevated glucagon. J Biol Chem 2006; 281: 39982-39989.
-
(2006)
J Biol Chem
, vol.281
, pp. 39982-39989
-
-
Wang, Y.1
Oeser, J.K.2
Yang, C.3
Sarkar, S.4
Hackl, S.I.5
Hasty, A.H.6
-
22
-
-
84859387081
-
Neutrophil function: From mechanisms to disease
-
Amulic B, Cazalet C, Hayes GL, Metzler KD, Zychlinsky A. Neutrophil function: from mechanisms to disease. Annu Rev Immunol 2012; 30: 459-489.
-
(2012)
Annu Rev Immunol
, vol.30
, pp. 459-489
-
-
Amulic, B.1
Cazalet, C.2
Hayes, G.L.3
Metzler, K.D.4
Zychlinsky, A.5
-
23
-
-
37549048249
-
The BCL-2 protein family: Opposing activities that mediate cell death
-
Youle RJ, Strasser A. The BCL-2 protein family: opposing activities that mediate cell death. Nat Rev Mol Cell Biol 2008; 9: 47-59.
-
(2008)
Nat Rev Mol Cell Biol
, vol.9
, pp. 47-59
-
-
Youle, R.J.1
Strasser, A.2
-
24
-
-
14944348965
-
The role of BH3-only proteins in the immune system
-
Strasser A. The role of BH3-only proteins in the immune system. Nat Rev Immunol 2005; 5: 189-200.
-
(2005)
Nat Rev Immunol
, vol.5
, pp. 189-200
-
-
Strasser, A.1
-
25
-
-
34250758642
-
ER stress triggers apoptosis by activating BH3-only protein Bim
-
Puthalakath H, O'Reilly LA, Gunn P, Lee L, Kelly PN, Huntington ND et al. ER stress triggers apoptosis by activating BH3-only protein Bim. Cell 2007; 129: 1337-1349.
-
(2007)
Cell
, vol.129
, pp. 1337-1349
-
-
Puthalakath, H.1
O'Reilly, L.A.2
Gunn, P.3
Lee, L.4
Kelly, P.N.5
Huntington, N.D.6
-
26
-
-
79958838942
-
G6PC3 mutations are associated with a major defect of glycosylation: A novel mechanism for neutrophil dysfunction
-
Hayee B, Antonopoulos A, Murphy EJ, Rahman FZ, Sewell G, Smith BN 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
Rahman, F.Z.4
Sewell, G.5
Smith, B.N.6
-
27
-
-
22244446505
-
The mammalian unfolded protein response
-
Schroder M, Kaufman RJ. The mammalian unfolded protein response. Annu Rev Biochem 2005; 74: 739-789.
-
(2005)
Annu Rev Biochem
, vol.74
, pp. 739-789
-
-
Schroder, M.1
Kaufman, R.J.2
-
28
-
-
0030476922
-
The cell death inhibitor Bcl-2 and its homologues influence control of cell cycle entry
-
O'Reilly LA, Huang DC, Strasser A. The cell death inhibitor Bcl-2 and its homologues influence control of cell cycle entry. EMBO J 1996; 15: 6979-6990.
-
(1996)
EMBO J
, vol.15
, pp. 6979-6990
-
-
O'Reilly, L.A.1
Huang, D.C.2
Strasser, A.3
-
29
-
-
84860336487
-
Glucose-6-phosphatase-beta, implicated in a congenital neutropenia syndrome, is essential for macrophage energy homeostasis and functionality
-
Jun HS, Cheung YY, Lee YM, Mansfield BC, Chou JY. Glucose-6-phosphatase- beta, implicated in a congenital neutropenia syndrome, is essential for macrophage energy homeostasis and functionality. Blood 2012; 119: 4047-4055.
-
(2012)
Blood
, vol.119
, pp. 4047-4055
-
-
Jun, H.S.1
Cheung, Y.Y.2
Lee, Y.M.3
Mansfield, B.C.4
Chou, J.Y.5
-
30
-
-
0017665008
-
Induction of two transformation-sensitive membrane polypeptides in normal fibroblasts by a block in glycoprotein synthesis or glucose deprivation
-
Pouyssegur J, Shiu RP, Pastan I. Induction of two transformation- sensitive membrane polypeptides in normal fibroblasts by a block in glycoprotein synthesis or glucose deprivation. Cell 1977; 11: 941-947.
-
(1977)
Cell
, vol.11
, pp. 941-947
-
-
Pouyssegur, J.1
Shiu, R.P.2
Pastan, I.3
-
31
-
-
38349157811
-
Hematopoietic cytokines
-
Metcalf D. Hematopoietic cytokines. Blood 2008; 111: 485-491.
-
(2008)
Blood
, vol.111
, pp. 485-491
-
-
Metcalf, D.1
-
32
-
-
39149095948
-
The BCL2 rheostat in glucocorticoid-induced apoptosis of acute lymphoblastic leukemia
-
Ploner C, Rainer J, Niederegger H, Eduardoff M, Villunger A, Geley S et al. The BCL2 rheostat in glucocorticoid-induced apoptosis of acute lymphoblastic leukemia. Leukemia 2008; 22: 370-377.
-
(2008)
Leukemia
, vol.22
, pp. 370-377
-
-
Ploner, C.1
Rainer, J.2
Niederegger, H.3
Eduardoff, M.4
Villunger, A.5
Geley, S.6
-
33
-
-
84255170518
-
Measurement of glucose uptake in cultured cells
-
Chapter 12: Unit 12.14.1-22
-
Yamamoto N, Ueda M, Sato T, Kawasaki K, Sawada K, Kawabata K et al. Measurement of Glucose Uptake in Cultured Cells. Current protocols in pharmacology 2011; Chapter 12: Unit 12.14.1-22.
-
(2011)
Current Protocols in Pharmacology
-
-
Yamamoto, N.1
Ueda, M.2
Sato, T.3
Kawasaki, K.4
Sawada, K.5
Kawabata, K.6
|