-
1
-
-
0035525791
-
Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease
-
Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC. 2001. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. Blood 98:2645-2650.
-
(2001)
Blood
, vol.98
, pp. 2645-2650
-
-
Ancliff, P.J.1
Gale, R.E.2
Liesner, R.3
Hann, I.M.4
Linch, D.C.5
-
2
-
-
2542434031
-
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register
-
Bellanne-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, Vaury C, Barkaoui M, Fenneteau O, Maier-Redelsperger M, Chomienne C, Donadieu J. 2004. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. Blood 103:4119-4125.
-
(2004)
Blood
, vol.103
, pp. 4119-4125
-
-
Bellanne-Chantelot, C.1
Clauin, S.2
Leblanc, T.3
Cassinat, B.4
Rodrigues-Lima, F.5
Beaufils, S.6
Vaury, C.7
Barkaoui, M.8
Fenneteau, O.9
Maier-Redelsperger, M.10
Chomienne, C.11
Donadieu, J.12
-
3
-
-
0041353534
-
Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase
-
Benson KF, Li FQ, Person RE, Albani D, Duan Z, Wechsler J, Meade-White K, Williams K, Acland GM, Niemeyer G, Lothrop CD, Horwitz M. 2003. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nat Genet 35:90-96.
-
(2003)
Nat Genet
, vol.35
, pp. 90-96
-
-
Benson, K.F.1
Li, F.Q.2
Person, R.E.3
Albani, D.4
Duan, Z.5
Wechsler, J.6
Meade-White, K.7
Williams, K.8
Acland, G.M.9
Niemeyer, G.10
Lothrop, C.D.11
Horwitz, M.12
-
4
-
-
0024317186
-
Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis
-
Bonilla MA, Gillio AP, Ruggeiro M, Kernan NA, Brochstein JA, Abboud M, Fumagalli L, Vincent M, Gabrilove JL, Welte K, Souza LM, O'Reilly RJ. 1989. Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. N Engl J Med 320:1574-1580.
-
(1989)
N Engl J Med
, vol.320
, pp. 1574-1580
-
-
Bonilla, M.A.1
Gillio, A.P.2
Ruggeiro, M.3
Kernan, N.A.4
Brochstein, J.A.5
Abboud, M.6
Fumagalli, L.7
Vincent, M.8
Gabrilove, J.L.9
Welte, K.10
Souza, L.M.11
O'Reilly, R.J.12
-
5
-
-
0030997435
-
Granules of the human neutrophilic polymorphonuclear leukocyte
-
Borregaard N, Cowland JB. 1997. Granules of the human neutrophilic polymorphonuclear leukocyte. Blood 89:3503-3521.
-
(1997)
Blood
, vol.89
, pp. 3503-3521
-
-
Borregaard, N.1
Cowland, J.B.2
-
6
-
-
34547100092
-
SNAP: predict effect of non-synonymous polymorphisms on function
-
Bromberg Y, Rost B. 2007. SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res 35:3823-3835.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 3823-3835
-
-
Bromberg, Y.1
Rost, B.2
-
7
-
-
0025744474
-
Prediction of human mRNA donor and acceptor sites from the DNA sequence
-
Brunak S, Engelbrecht J, Knudsen S. 1991. Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 220:49-65.
-
(1991)
J Mol Biol
, vol.220
, pp. 49-65
-
-
Brunak, S.1
Engelbrecht, J.2
Knudsen, S.3
-
8
-
-
84856368250
-
Hematopoietic stem cell transplantation for severe congenital neutropenia
-
Connelly JA, Choi SW, Levine JE. 2012. Hematopoietic stem cell transplantation for severe congenital neutropenia. Curr Opin Hematol 19:44-51.
-
(2012)
Curr Opin Hematol
, vol.19
, pp. 44-51
-
-
Connelly, J.A.1
Choi, S.W.2
Levine, J.E.3
-
10
-
-
0034307655
-
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
-
Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, Boxer LA, Kannourakis G, Zeidler C, Welte K, Benson KF, Horwitz M. 2000. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 96:2317-2322.
-
(2000)
Blood
, vol.96
, pp. 2317-2322
-
-
Dale, D.C.1
Person, R.E.2
Bolyard, A.A.3
Aprikyan, A.G.4
Bos, C.5
Bonilla, M.A.6
Boxer, L.A.7
Kannourakis, G.8
Zeidler, C.9
Welte, K.10
Benson, K.F.11
Horwitz, M.12
-
11
-
-
34249654593
-
G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms
-
Donini M, Fontana S, Savoldi G, Vermi W, Tassone L, Gentili F, Zenaro E, Ferrari D, Notarangelo LD, Porta F, Facchetti F, Dusi S, et al. 2007. G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms. Blood 109:4716-4723.
-
(2007)
Blood
, vol.109
, pp. 4716-4723
-
-
Donini, M.1
Fontana, S.2
Savoldi, G.3
Vermi, W.4
Tassone, L.5
Gentili, F.6
Zenaro, E.7
Ferrari, D.8
Notarangelo, L.D.9
Porta, F.10
Facchetti, F.11
Dusi, S.12
-
12
-
-
0346993672
-
A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia
-
Duan Z, Li FQ, Wechsler J, Meade-White K, Williams K, Benson KF, Horwitz M. 2004. A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia. Mol Cell Biol 24:58-70.
-
(2004)
Mol Cell Biol
, vol.24
, pp. 58-70
-
-
Duan, Z.1
Li, F.Q.2
Wechsler, J.3
Meade-White, K.4
Williams, K.5
Benson, K.F.6
Horwitz, M.7
-
13
-
-
0037370710
-
Neutrophil elastase enzymatically antagonizes the in vitro action of G-CSF: implications for the regulation of granulopoiesis
-
El Ouriaghli F, Fujiwara H, Melenhorst JJ, Sconocchia G, Hensel N, Barrett AJ. 2003. Neutrophil elastase enzymatically antagonizes the in vitro action of G-CSF: implications for the regulation of granulopoiesis. Blood 101:1752-1758.
-
(2003)
Blood
, vol.101
, pp. 1752-1758
-
-
El Ouriaghli, F.1
Fujiwara, H.2
Melenhorst, J.J.3
Sconocchia, G.4
Hensel, N.5
Barrett, A.J.6
-
14
-
-
25144496606
-
PMUT: a web-based tool for the annotation of pathological mutations on proteins
-
Ferrer-Costa C, Gelpi JL, Zamakola L, Parraga I, de la Cruz X, Orozco M. 2005. PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 21:3176-3178.
-
(2005)
Bioinformatics
, vol.21
, pp. 3176-3178
-
-
Ferrer-Costa, C.1
Gelpi, J.L.2
Zamakola, L.3
Parraga, I.4
de la Cruz, X.5
Orozco, M.6
-
15
-
-
33845972945
-
Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey
-
Germeshausen M, Ballmaier M, Welte K. 2007. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey. Blood 109:93-99.
-
(2007)
Blood
, vol.109
, pp. 93-99
-
-
Germeshausen, M.1
Ballmaier, M.2
Welte, K.3
-
16
-
-
60249083503
-
In vivo expansion of cells expressing acquired CSF3R mutations in patients with severe congenital neutropenia
-
Germeshausen M, Welte K, Ballmaier M. 2009. In vivo expansion of cells expressing acquired CSF3R mutations in patients with severe congenital neutropenia. Blood 113:668-670.
-
(2009)
Blood
, vol.113
, pp. 668-670
-
-
Germeshausen, M.1
Welte, K.2
Ballmaier, M.3
-
17
-
-
77954477084
-
Digenic mutations in severe congenital neutropenia
-
Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K. 2010. Digenic mutations in severe congenital neutropenia. Haematologica 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
-
18
-
-
0016197604
-
Amino acid difference formula to help explain protein evolution
-
Grantham R. 1974. Amino acid difference formula to help explain protein evolution. Science 185:862-864.
-
(1974)
Science
, vol.185
, pp. 862-864
-
-
Grantham, R.1
-
19
-
-
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, Dinauer MC, Link DC. 2007. Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. Blood 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
Dinauer, M.C.7
Link, D.C.8
-
20
-
-
0029791403
-
Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information
-
Hebsgaard SM, Korning PG, Tolstrup N, Engelbrecht J, Rouze P, Brunak S. 1996. Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res 24:3439-3452.
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 3439-3452
-
-
Hebsgaard, S.M.1
Korning, P.G.2
Tolstrup, N.3
Engelbrecht, J.4
Rouze, P.5
Brunak, S.6
-
21
-
-
0035312993
-
Significance of neutrophil elastase mutations versus G-CSF receptor mutations for leukemic progression of congenital neutropenia
-
Hermans MH, Touw IP. 2001. Significance of neutrophil elastase mutations versus G-CSF receptor mutations for leukemic progression of congenital neutropenia. Blood 97:2185-2186.
-
(2001)
Blood
, vol.97
, pp. 2185-2186
-
-
Hermans, M.H.1
Touw, I.P.2
-
22
-
-
0032757863
-
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis
-
Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC. 1999. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet 23:433-436.
-
(1999)
Nat Genet
, vol.23
, pp. 433-436
-
-
Horwitz, M.1
Benson, K.F.2
Person, R.E.3
Aprikyan, A.G.4
Dale, D.C.5
-
23
-
-
33847395071
-
Neutrophil elastase in cyclic and severe congenital neutropenia
-
Horwitz MS, Duan Z, Korkmaz B, Lee HH, Mealiffe ME, Salipante SJ. 2007. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood 109:1817-1824.
-
(2007)
Blood
, vol.109
, pp. 1817-1824
-
-
Horwitz, M.S.1
Duan, Z.2
Korkmaz, B.3
Lee, H.H.4
Mealiffe, M.E.5
Salipante, S.J.6
-
24
-
-
0242330216
-
Proteolytic cleavage of granulocyte colony-stimulating factor and its receptor by neutrophil elastase induces growth inhibition and decreased cell surface expression of the granulocyte colony-stimulating factor receptor
-
Hunter MG, Druhan LJ, Massullo PR, Avalos BR. 2003. Proteolytic cleavage of granulocyte colony-stimulating factor and its receptor by neutrophil elastase induces growth inhibition and decreased cell surface expression of the granulocyte colony-stimulating factor receptor. Am J Hematol 74:149-155.
-
(2003)
Am J Hematol
, vol.74
, pp. 149-155
-
-
Hunter, M.G.1
Druhan, L.J.2
Massullo, P.R.3
Avalos, B.R.4
-
25
-
-
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, Zeidler C, Kruger M, Schlegelberger B, Welte K, Beger C. 2006. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood 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
Zeidler, C.7
Kruger, M.8
Schlegelberger, B.9
Welte, K.10
Beger, C.11
-
26
-
-
79958831736
-
Four novel ELANE mutations in patients with congenital neutropenia
-
Kurnikova M, Maschan M, Dinova E, Shagina I, Finogenova N, Mamedova E, Polovtseva T, Shagin D, Shcherbina A. 2011. Four novel ELANE mutations in patients with congenital neutropenia. Pediatr Blood Cancer 57:332-335.
-
(2011)
Pediatr Blood Cancer
, vol.57
, pp. 332-335
-
-
Kurnikova, M.1
Maschan, M.2
Dinova, E.3
Shagina, I.4
Finogenova, N.5
Mamedova, E.6
Polovtseva, T.7
Shagin, D.8
Shcherbina, A.9
-
27
-
-
0035957966
-
Characterization of mutant neutrophil elastase in severe congenital neutropenia
-
Li FQ, Horwitz M. 2001. Characterization of mutant neutrophil elastase in severe congenital neutropenia. J Biol Chem 276:14230-14241.
-
(2001)
J Biol Chem
, vol.276
, pp. 14230-14241
-
-
Li, F.Q.1
Horwitz, M.2
-
28
-
-
1642453631
-
Lymphoid enhancer factor-1 links two hereditary leukemia syndromes through core-binding factor alpha regulation of ELA2
-
Li FQ, Person RE, Takemaru K, Williams K, Meade-White K, Ozsahin AH, Gungor T, Moon RT, Horwitz M. 2004. Lymphoid enhancer factor-1 links two hereditary leukemia syndromes through core-binding factor alpha regulation of ELA2. J Biol Chem 279:2873-2884.
-
(2004)
J Biol Chem
, vol.279
, pp. 2873-2884
-
-
Li, F.Q.1
Person, R.E.2
Takemaru, K.3
Williams, K.4
Meade-White, K.5
Ozsahin, A.H.6
Gungor, T.7
Moon, R.T.8
Horwitz, M.9
-
29
-
-
18244377662
-
Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes
-
Massullo P, Druhan LJ, Bunnell BA, Hunter MG, Robinson JM, Marsh CB, Avalos BR. 2005. Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes. Blood 105:3397-3404.
-
(2005)
Blood
, vol.105
, pp. 3397-3404
-
-
Massullo, P.1
Druhan, L.J.2
Bunnell, B.A.3
Hunter, M.G.4
Robinson, J.M.5
Marsh, C.B.6
Avalos, B.R.7
-
30
-
-
33845235054
-
A family of severe congenital neutropenia with -199C to A substitution in ELA2 promoter
-
Matsushita H, Asai S, Komiya S, Inoue H, Yabe H, Miyachi H. 2006. A family of severe congenital neutropenia with -199C to A substitution in ELA2 promoter. Am J Hematol 81:985-986.
-
(2006)
Am J Hematol
, vol.81
, pp. 985-986
-
-
Matsushita, H.1
Asai, S.2
Komiya, S.3
Inoue, H.4
Yabe, H.5
Miyachi, H.6
-
31
-
-
0026328976
-
Determination of leukocyte elastase concentration in plasma and serum by a simple method using a specific synthetic substrate
-
Nagamatsu Y, Yamamoto J, Fukuda A, Ohta M, Tsuda Y, Okada Y. 1991. Determination of leukocyte elastase concentration in plasma and serum by a simple method using a specific synthetic substrate. Haemostasis 21:338-345.
-
(1991)
Haemostasis
, vol.21
, pp. 338-345
-
-
Nagamatsu, Y.1
Yamamoto, J.2
Fukuda, A.3
Ohta, M.4
Tsuda, Y.5
Okada, Y.6
-
32
-
-
77955122507
-
Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes
-
Newburger PE, Pindyck TN, Zhu Z, Bolyard AA, Aprikyan AA, Dale DC, Smith GD, Boxer LA. 2010. Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes. Pediatr Blood Cancer 55:314-317.
-
(2010)
Pediatr Blood Cancer
, vol.55
, pp. 314-317
-
-
Newburger, P.E.1
Pindyck, T.N.2
Zhu, Z.3
Bolyard, A.A.4
Aprikyan, A.A.5
Dale, D.C.6
Smith, G.D.7
Boxer, L.A.8
-
33
-
-
0043122919
-
SIFT: predicting amino acid changes that affect protein function
-
Ng PC, Henikoff S. 2003. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31:3812-3814.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
34
-
-
78049496216
-
Neutrophil elastase and myeloperoxidase regulate the formation of neutrophil extracellular traps
-
Papayannopoulos V, Metzler KD, Hakkim A, Zychlinsky A. 2010. Neutrophil elastase and myeloperoxidase regulate the formation of neutrophil extracellular traps. J Cell Biol 191:677-691.
-
(2010)
J Cell Biol
, vol.191
, pp. 677-691
-
-
Papayannopoulos, V.1
Metzler, K.D.2
Hakkim, A.3
Zychlinsky, A.4
-
35
-
-
0030627982
-
Neural network prediction of translation initiation sites in eukaryotes: perspectives for EST and genome analysis
-
Pedersen AG, Nielsen H. 1997. Neural network prediction of translation initiation sites in eukaryotes: perspectives for EST and genome analysis. Proc Int Conf Intell Syst Mol Biol 5:226-233.
-
(1997)
Proc Int Conf Intell Syst Mol Biol
, vol.5
, pp. 226-233
-
-
Pedersen, A.G.1
Nielsen, H.2
-
36
-
-
33745559712
-
Neutrophil serine proteases: specific regulators of inflammation
-
Pham CT. 2006. Neutrophil serine proteases: specific regulators of inflammation. Nat Rev Immunol 6:541-550.
-
(2006)
Nat Rev Immunol
, vol.6
, pp. 541-550
-
-
Pham, C.T.1
-
37
-
-
77649321199
-
Neutrophil elastase downmodulates native G-CSFR expression and granulocyte-macrophage colony formation
-
Inflamm :.
-
Piper MG, Massullo PR, Loveland M, Druhan LJ, Kindwall-Keller TL, Ai J, Copelan A, Avalos BR. 2010. Neutrophil elastase downmodulates native G-CSFR expression and granulocyte-macrophage colony formation. J Inflamm 7:5.
-
(2010)
J
, vol.7
, pp. 5
-
-
Piper, M.G.1
Massullo, P.R.2
Loveland, M.3
Druhan, L.J.4
Kindwall-Keller, T.L.5
Ai, J.6
Copelan, A.7
Avalos, B.R.8
-
38
-
-
0036713510
-
Human non-synonymous SNPs: server and survey
-
Ramensky V, Bork P, Sunyaev S. 2002. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30:3894-3900.
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
40
-
-
33745096897
-
The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy
-
Rosenberg PS, Alter BP, Bolyard AA, Bonilla MA, Boxer LA, Cham B, Fier C, Freedman M, Kannourakis G, Kinsey S, Schwinzer B, Zeidler C, et al. 2006. The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood 107:4628-4635.
-
(2006)
Blood
, vol.107
, pp. 4628-4635
-
-
Rosenberg, P.S.1
Alter, B.P.2
Bolyard, A.A.3
Bonilla, M.A.4
Boxer, L.A.5
Cham, B.6
Fier, C.7
Freedman, M.8
Kannourakis, G.9
Kinsey, S.10
Schwinzer, B.11
Zeidler, C.12
-
41
-
-
37249056583
-
Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia
-
Rosenberg PS, Alter BP, Link DC, Stein S, Rodger E, Bolyard AA, Aprikyan AA, Bonilla MA, Dror Y, Kannourakis G, Newburger PE, Boxer LA, et al. 2008. Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. Br J Haematol 140:210-213.
-
(2008)
Br J Haematol
, vol.140
, pp. 210-213
-
-
Rosenberg, P.S.1
Alter, B.P.2
Link, D.C.3
Stein, S.4
Rodger, E.5
Bolyard, A.A.6
Aprikyan, A.A.7
Bonilla, M.A.8
Dror, Y.9
Kannourakis, G.10
Newburger, P.E.11
Boxer, L.A.12
-
42
-
-
77954324689
-
Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy
-
Rosenberg PS, Zeidler C, Bolyard AA, Alter BP, Bonilla MA, Boxer LA, Dror Y, Kinsey S, Link DC, Newburger PE, Shimamura A, Welte K, et al. 2010. Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. Br J Haematol 150:196-199.
-
(2010)
Br J Haematol
, vol.150
, pp. 196-199
-
-
Rosenberg, P.S.1
Zeidler, C.2
Bolyard, A.A.3
Alter, B.P.4
Bonilla, M.A.5
Boxer, L.A.6
Dror, Y.7
Kinsey, S.8
Link, D.C.9
Newburger, P.E.10
Shimamura, A.11
Welte, K.12
-
43
-
-
34548219046
-
Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia
-
Salipante SJ, Benson KF, Luty J, Hadavi V, Kariminejad R, Kariminejad MH, Rezaei N, Horwitz MS. 2007. Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. Hum Mutat 28:874-881.
-
(2007)
Hum Mutat
, vol.28
, pp. 874-881
-
-
Salipante, S.J.1
Benson, K.F.2
Luty, J.3
Hadavi, V.4
Kariminejad, R.5
Kariminejad, M.H.6
Rezaei, N.7
Horwitz, M.S.8
-
44
-
-
24944566743
-
A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia
-
Sera Y, Kawaguchi H, Nakamura K, Sato T, Habara M, Okada S, Ishikawa N, Kojima S, Katoh O, Kobayashi M. 2005. A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia. Haematologica 90:1032-1041.
-
(2005)
Haematologica
, vol.90
, pp. 1032-1041
-
-
Sera, Y.1
Kawaguchi, H.2
Nakamura, K.3
Sato, T.4
Habara, M.5
Okada, S.6
Ishikawa, N.7
Kojima, S.8
Katoh, O.9
Kobayashi, M.10
-
45
-
-
0037910378
-
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness
-
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, et al. 2003. MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) 82:203-215.
-
(2003)
Medicine (Baltimore)
, vol.82
, pp. 203-215
-
-
Seri, M.1
Pecci, A.2
Di Bari, F.3
Cusano, R.4
Savino, M.5
Panza, E.6
Nigro, A.7
Noris, P.8
Gangarossa, S.9
Rocca, B.10
Gresele, P.11
Bizzaro, N.12
-
46
-
-
33749510883
-
LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia
-
Skokowa J, Cario G, Uenalan M, Schambach A, Germeshausen M, Battmer K, Zeidler C, Lehmann U, Eder M, Baum C, Grosschedl R, Stanulla M, et al. 2006. LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia. Nat Med 12:1191-1197.
-
(2006)
Nat Med
, vol.12
, pp. 1191-1197
-
-
Skokowa, J.1
Cario, G.2
Uenalan, M.3
Schambach, A.4
Germeshausen, M.5
Battmer, K.6
Zeidler, C.7
Lehmann, U.8
Eder, M.9
Baum, C.10
Grosschedl, R.11
Stanulla, M.12
-
47
-
-
70449466604
-
Neutrophil elastase is severely downregulated in severe congenital neutropenia (CN) independent of ELA2 or HAX1 mutations but dependent on LEF-1
-
Skokowa J, Fobiwe JP, Dan L, Thakur BK, Welte K. 2009. Neutrophil elastase is severely downregulated in severe congenital neutropenia (CN) independent of ELA2 or HAX1 mutations but dependent on LEF-1. Blood 114:3044-3051.
-
(2009)
Blood
, vol.114
, pp. 3044-3051
-
-
Skokowa, J.1
Fobiwe, J.P.2
Dan, L.3
Thakur, B.K.4
Welte, K.5
-
48
-
-
82255173966
-
The unfolded protein response: from stress pathway to homeostatic regulation
-
Walter P, Ron D. 2011. The unfolded protein response: from stress pathway to homeostatic regulation. Science 334:1081-1086.
-
(2011)
Science
, vol.334
, pp. 1081-1086
-
-
Walter, P.1
Ron, D.2
-
50
-
-
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, Link DC. 2009. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol 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
Link, D.C.7
-
51
-
-
0030804315
-
Wiskott-Aldrich syndrome/x-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype
-
Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB, Aruffo A, Ochs HD. 1997. Wiskott-Aldrich syndrome/x-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood 90:2680-2689.
-
(1997)
Blood
, vol.90
, pp. 2680-2689
-
-
Zhu, Q.1
Watanabe, C.2
Liu, T.3
Hollenbaugh, D.4
Blaese, R.M.5
Kanner, S.B.6
Aruffo, A.7
Ochs, H.D.8
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