-
1
-
-
0242354775
-
Congenital neutropenia
-
Ancliff PJ. Congenital neutropenia. Blood Rev. 2003;17: 209-216.
-
(2003)
Blood Rev
, vol.17
, pp. 209-216
-
-
Ancliff, P.J.1
-
3
-
-
35148829886
-
A molecular classification of congenital neutropenia syndromes
-
Boxer LA, Newburger PE. A molecular classification of congenital neutropenia syndromes. Pediatr Blood Cancer. 2007; 49:609-614.
-
(2007)
Pediatr Blood Cancer
, vol.49
, pp. 609-614
-
-
Boxer, L.A.1
Newburger, P.E.2
-
4
-
-
0032757863
-
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis
-
Horwitz M, Benson KF, Person RE, et al. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet. 1999;23:433-436.
-
(1999)
Nat Genet
, vol.23
, pp. 433-436
-
-
Horwitz, M.1
Benson, K.F.2
Person, R.E.3
-
5
-
-
0034307655
-
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutro-penia
-
Dale DC, Person RE, Bolyard AA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutro-penia. Blood. 2000;96:2317-2322.
-
(2000)
Blood
, vol.96
, pp. 2317-2322
-
-
Dale, D.C.1
Person, R.E.2
Bolyard, A.A.3
-
6
-
-
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 PA, Gale RE, Liesner R, et al. 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. 2001; 98:2645-2650.
-
(2001)
Blood
, vol.98
, pp. 2645-2650
-
-
Ancliff, P.A.1
Gale, R.E.2
Liesner, R.3
-
7
-
-
33847395071
-
Neutrophil elastase in cyclic and severe congenital neutropenia
-
Horwitz MS, Duan Z, Korkmaz B, et al. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood. 2007;109: 1817-1824.
-
(2007)
Blood
, vol.109
, pp. 1817-1824
-
-
Horwitz, M.S.1
Duan, Z.2
Korkmaz, B.3
-
8
-
-
34948886663
-
Severe congenital neutropenia: New genes explain an old disease
-
Bohn G, Welte K, Klein C. Severe congenital neutropenia: new genes explain an old disease. Curr Opin Rheumatol. 2007;19: 644-650.
-
(2007)
Curr Opin Rheumatol
, vol.19
, pp. 644-650
-
-
Bohn, G.1
Welte, K.2
Klein, C.3
-
9
-
-
0038757823
-
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
-
Person RE, Li FQ, Duan Z, et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet. 2003;34:308-312.
-
(2003)
Nat Genet
, vol.34
, pp. 308-312
-
-
Person, R.E.1
Li, F.Q.2
Duan, Z.3
-
10
-
-
33845904894
-
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
-
Klein C, Grudzien M, Appaswamy G, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet. 2007;39:86-92.
-
(2007)
Nat Genet
, vol.39
, pp. 86-92
-
-
Klein, C.1
Grudzien, M.2
Appaswamy, G.3
-
11
-
-
57349091704
-
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the B86X mutation in the HAX1 gene
-
Ishikawa N, Okada S, Miki M, et al. Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the B86X mutation in the HAX1 gene. J Med Genet. 2008;45:802-807.
-
(2008)
J Med Genet
, vol.45
, pp. 802-807
-
-
Ishikawa, N.1
Okada, S.2
Miki, M.3
-
12
-
-
34547515063
-
Expression of bactericidal/permeability-increasing protein requires C/EBPε
-
Tanaka M, Gombart AF, Koeffler HP, et al. Expression of bactericidal/permeability-increasing protein requires C/EBPε. Int J Hematol. 2007;85:304-311.
-
(2007)
Int J Hematol
, vol.85
, pp. 304-311
-
-
Tanaka, M.1
Gombart, A.F.2
Koeffler, H.P.3
-
13
-
-
0030997435
-
Granules of the human neutrophilic polymorphonuclear leukocyte
-
Borregaard N, Cowland JB. Granules of the human neutrophilic polymorphonuclear leukocyte. Blood. 1997;89: 3503-3521.
-
(1997)
Blood
, vol.89
, pp. 3503-3521
-
-
Borregaard, N.1
Cowland, J.B.2
-
14
-
-
0037634475
-
Efficacy of prophylactic use of trimethoprim-sulfamethoxazole in autoimmune neutropenia in infancy
-
Kobayashi M, Sato T, Kawaguchi H, et al. Efficacy of prophylactic use of trimethoprim-sulfamethoxazole in autoimmune neutropenia in infancy. J Pediatr Hematol Oncol. 2003;25:553-557.
-
(2003)
J Pediatr Hematol Oncol
, vol.25
, pp. 553-557
-
-
Kobayashi, M.1
Sato, T.2
Kawaguchi, H.3
-
15
-
-
34548133577
-
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome
-
De Backer J, Loeys B, Leroy B, et al. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. Clin Genet. 2007;72: 188-198.
-
(2007)
Clin Genet
, vol.72
, pp. 188-198
-
-
De Backer, J.1
Loeys, B.2
Leroy, B.3
-
16
-
-
0032900445
-
The LQT syndromes-current status of molecular mechanisms
-
Schulze-Bahr E, Wedekind H, Haverkamp W, et al. The LQT syndromes-current status of molecular mechanisms. Z Kardiol. 1999;88:245-254.
-
(1999)
Z Kardiol
, vol.88
, pp. 245-254
-
-
Schulze-Bahr, E.1
Wedekind, H.2
Haverkamp, W.3
-
18
-
-
0035353169
-
Neutrophilspecific granule deficiency: Homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein-ε
-
Gombart AF, Shiohara M, Kwok SH, et al. Neutrophilspecific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein-ε. Blood. 2001;97: 2561-2567.
-
(2001)
Blood
, vol.97
, pp. 2561-2567
-
-
Gombart, A.F.1
Shiohara, M.2
Kwok, S.H.3
-
19
-
-
0842288434
-
Phenotypic and functional alterations of peripheral blood monocytes in neutrophil-specific granule deficiency
-
Shiohara M, Gombart AF, Sekiguchi Y, et al. Phenotypic and functional alterations of peripheral blood monocytes in neutrophil-specific granule deficiency. J Leukoc Biol. 2004;75: 190-197.
-
(2004)
J Leukoc Biol
, vol.75
, pp. 190-197
-
-
Shiohara, M.1
Gombart, A.F.2
Sekiguchi, Y.3
-
20
-
-
33947517620
-
Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia
-
Karlsson J, Carlsson G, Ramme KG, et al. Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia. Br J Haematol. 2007;137:166-169.
-
(2007)
Br J Haematol
, vol.137
, pp. 166-169
-
-
Karlsson, J.1
Carlsson, G.2
Ramme, K.G.3
-
22
-
-
0037068959
-
Deficiency of antibacterial peptides in patients with morbus Kostmann: An observation study
-
Putsep K, Carlsson G, Boman HG, et al. Deficiency of antibacterial peptides in patients with morbus Kostmann: an observation study. Lancet. 2002;360:1144-1149.
-
(2002)
Lancet
, vol.360
, pp. 1144-1149
-
-
Putsep, K.1
Carlsson, G.2
Boman, H.G.3
-
23
-
-
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, et al. 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. 2007; 109:4716-4723.
-
(2007)
Blood
, vol.109
, pp. 4716-4723
-
-
Donini, M.1
Fontana, S.2
Savoldi, G.3
-
24
-
-
55549129604
-
Vitamin D3 induces pro-LL-37 expression in myeloid precursors from patients with severe congenital neutropenia
-
Karlsson J, Carlsson G, Larne O, et al. Vitamin D3 induces pro-LL-37 expression in myeloid precursors from patients with severe congenital neutropenia. J Leukoc Biol. 2008;84:1279-1286.
-
(2008)
J Leukoc Biol
, vol.84
, pp. 1279-1286
-
-
Karlsson, J.1
Carlsson, G.2
Larne, O.3
-
25
-
-
33947193050
-
Regulation of the CAMP gene by 1,25(OH)2D3 in various tissues
-
Gombart AF, O'Kelly J, Saito T, et al. Regulation of the CAMP gene by 1,25(OH)2D3 in various tissues. J Steroid Biochem Mol Biol. 2007;103:552-557.
-
(2007)
J Steroid Biochem Mol Biol
, vol.103
, pp. 552-557
-
-
Gombart, A.F.1
O'Kelly, J.2
Saito, T.3
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