About: Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia

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About: Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia Goto Sponge NotDistinct Permalink

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scientific article published on 22 September 2009

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rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 2009 (ast) наукова стаття, опублікована у вересні 2009 (uk) scientific article published on 22 September 2009 (en) مقالة علمية نشرت في 22 سبتمبر 2009 (ar) գիտական հոդված հրատարակված 2009 թվականի սեպտեմբերի 22-ին (hy)
publication date	wds:Q37438279-6120F989-130F-4471-959B-9D198FF8CBD9
publication date	2009-09-22 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37438279-FDDBA91F-22E1-495D-8E05-E2B934E3ABEC
language of work or name	English
cites work	wds:Q37438279-063B9DBF-72D4-474F-8214-58F769DED4AB wds:Q37438279-153FABC2-39AF-45A8-B40E-A995F0F1EA09 wds:Q37438279-244ADA69-9CD8-479C-90F8-460FB6E802AC wds:Q37438279-2BDFBC01-7EF9-49ED-8A11-8F1A5CDA661B wds:Q37438279-2ECE4C62-5111-4B44-BD31-DD54FD788EE5 wds:Q37438279-32EA7C92-F580-4F4A-846E-E2BF9F25B6A3 wds:Q37438279-34F7F7A8-BEF1-4E44-AD8F-4834CC0A7908 wds:Q37438279-5242B17D-C389-4EBE-966F-4B610B9B5E32 wds:Q37438279-53085147-C48C-4EC6-890C-66C1EB274427 wds:Q37438279-570E2E5D-AF1D-4F5C-985D-D29E0ECD9907 wds:Q37438279-580B0264-FA5D-43AC-A6C5-0CED129B8A8A wds:Q37438279-759AF92D-5899-4662-87CF-4FF6A44A0FEC wds:Q37438279-8450BB63-F471-47FD-8AB9-F586995241A5 wds:Q37438279-86AD54DC-DAA6-4B82-B744-2AEB1BC1E700 wds:Q37438279-889C2CFE-E560-49A6-8A1A-BE6C51DEAF08 wds:Q37438279-95F56E09-4386-405C-9F46-CBE1368362D9 wds:Q37438279-9D9FEFA5-4E1A-4DB6-8F41-BF8610EB3D88 wds:Q37438279-A99E5AB6-654F-47CF-811D-6FE1C2AFB45D wds:Q37438279-AE763147-8671-4A4C-B744-54112A3F16F2 wds:Q37438279-AF0EDF1D-AD06-4E15-93F9-8C90FA341883 wds:Q37438279-AF737E7F-248C-42C2-876A-59C9C471E4E4 wds:Q37438279-AFED13C9-7502-41F4-85B3-E33FB59F84E5 wds:Q37438279-BF9F5FCD-430A-445F-BAF5-BCCE846B1AC6 wds:Q37438279-DE1B1C02-99E1-49FC-9D55-BD6275BD9949 wds:Q37438279-E5AF0656-5265-4B73-A6A8-F6633AF3FED3
cites work	Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Deletional Mutation of the External Domain of the Human Granulocyte Colony-Stimulating Factor Receptor in a Patient With Severe Chronic Neutropenia Refractory to Granulocyte Colony-Stimulating Factor Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2 A syndrome with congenital neutropenia and mutations in G6PC3 HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease) Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia Dysregulation of transcriptions in primary granule constituents during myeloid proliferation and differentiation in patients with severe congenital neutropenia SIFT: Predicting amino acid changes that affect protein function Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia Mutations in SBDS are associated with Shwachman-Diamond syndrome Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. Mutations in the SBDS gene in acquired aplastic anemia 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 Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations. Novel mechanism of G-CSF refractoriness in patients with severe congenital neutropenia. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations Combined corticosteroid/granulocyte colony-stimulating factor (G-CSF) therapy in the treatment of severe congenital neutropenia unresponsive to G-CSF: Activated glucocorticoid receptors synergize with G-CSF signals A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden
author name string	wds:Q37438279-06F134A5-0156-4EE7-A5D5-9AD6E995CF3C wds:Q37438279-8BB06E7F-B44A-4046-9026-54BD15DA7390 wds:Q37438279-9E47FBF8-D65B-4595-82FC-1A61E5AC6975 wds:Q37438279-C7D358BC-4CF5-4593-8198-65B1CBAD01D7 wds:Q37438279-D2BCEA50-6584-4172-B7AD-CC675465BC00 wds:Q37438279-D4AF8985-B64C-4044-95E4-19ACCA08E40B wds:Q37438279-F7E4AA02-33CA-4CC3-8C11-720B5B468036
author name string	Jun Xia Daniel C Link David C Dale Elin Rodger Audrey A Bolyard Andrew A Aprikyan Steve Stein
rdfs:label	Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia (en) Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia (nl) Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia (ast)
skos:prefLabel	Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia (en) Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia (nl) Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia (ast)
name	Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia (en) Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia (nl) Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia (ast)
title	wds:Q37438279-3F516BCC-2532-4218-97D3-0DEF39D34556
title	Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia (en)
page(s)	wds:Q37438279-15CC6A34-D89E-4C9F-A943-AACC17136365
page(s)	535-542
instance of	wds:Q37438279-A1021969-060A-444D-9190-CA1FDEAD6B68

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