Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.
about
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiencyHuman Metabolic Enzymes Deficiency: A Genetic Mutation Based ApproachFrom cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formationThe diversity of mutations and clinical outcomes for ELANE-associated neutropeniaGlycogen storage disease type I and G6Pase-β deficiency: etiology and therapyAssociation Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.Congenital neutropenia: diagnosis, molecular bases and patient management.A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.Inherited bone marrow failure syndromes in adolescents and young adults.Validation is a dish oft served coldFurther delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.Proteases, neutrophils, and periodontitis: the NET effectEvaluation and management of patients with isolated neutropeniaTCIRG1-associated congenital neutropenia.Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotypeActivation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane.Neutropenia in the newborn.Incidence and potential causative factors associated with chronic benign neutropenia in the Kingdom of Saudi Arabia.Mutations in the ELANE gene are associated with development of periodontitis in patients with severe congenital neutropeniaNovel ELANE gene mutation in a Korean girl with severe congenital neutropenia.The antimicrobial propeptide hCAP-18 plasma levels in neutropenia of various aetiologies: a prospective study.Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropeniaAnimal models of human granulocyte diseases.ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiologyWnt3a stimulates maturation of impaired neutrophils developed from severe congenital neutropenia patient-derived pluripotent stem cells.SUMOylation Regulates Growth Factor Independence 1 in Transcriptional Control and Hematopoiesis.Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE geneGfi1-cells and circuits: unraveling transcriptional networks of development and diseaseGfi1 and Gfi1b: key regulators of hematopoiesis.Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS.Hematopoietic stem cell transplantation for severe congenital neutropenia.Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.A Truncated Granulocyte Colony-stimulating Factor Receptor (G-CSFR) Inhibits Apoptosis Induced by Neutrophil Elastase G185R Mutant: IMPLICATION FOR UNDERSTANDING CSF3R GENE MUTATIONS IN SEVERE CONGENITAL NEUTROPENIA.Periodontal and other oral manifestations of immunodeficiency diseases.Bone Marrow-Derived Mesenchymal Stromal Cells from Patients with Sickle Cell Disease Display Intact Functionality.Survival and differentiation defects contribute to neutropenia in glucose-6-phosphatase-β (G6PC3) deficiency in a model of mouse neutrophil granulocyte differentiation.How I manage children with neutropenia.Bridging infectious disease vaccines with cancer immunotherapy: a role for targeted RNA based immunotherapeutics.Old and new faces of neutropenia in children.Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
P2860
Q24309032-BEAB502B-407C-4690-B692-08AECF168D17Q26751169-F4A931A5-F1AD-4E7F-958F-5F476A9447E5Q26786192-1F77680A-418B-4766-9A22-DAFF1EF10394Q26830241-CD78338E-CE88-4B24-BE6D-D534872C2BC7Q28296663-FADB0BC9-F9A9-464E-8314-03738D390933Q30276732-8D673329-6A95-4128-8A75-ED7753F77445Q33395402-CF395D24-88C4-48DB-9A56-93A45FF08273Q33408305-5940ACF3-C964-403B-BE3A-F5F927AF7280Q33415672-307FE32F-ACBA-4C1F-A8C5-D18A97C0B5D1Q33749612-DF92D430-08F2-41A3-AB9F-194381048A49Q34131806-02F9EAA6-5F83-464C-827A-02E29177CFC8Q34311663-5647720D-2F04-4251-B855-007130820523Q34364656-4C92550C-26AF-45F2-9842-86E263332B5BQ34416395-AF20C081-E419-42AB-92CB-B10B56BCD875Q34484509-D07F640D-73E4-4EE2-8243-08C3770CC7AEQ34773996-B945C5F9-1636-47C3-81B9-5FE50A0C2D82Q35063340-26100539-5E18-4CC3-8470-FE7ECDD020BCQ35093765-85D10FB1-421C-4750-B2DD-4D1A653DAA99Q35571823-F4D2726E-36E0-442F-83EC-CE270F0F15EBQ35590674-613B92A8-4E96-49BE-B08E-89CC41889BAFQ35793572-A80466DE-3EE9-4337-8AC1-0AF17A1A049CQ35945093-DE503157-9D34-4184-9EE5-3A520211B35BQ36573814-24B17202-8BC5-4534-85ED-300794DD21A5Q36573828-D7CB47FC-6465-4C9F-BB7E-4EF5C52D1963Q36637446-107728FF-4B90-4A5D-9083-12FB3D37F03FQ36878834-5732BD86-45B2-4513-8530-D5E768B9FFECQ37622255-F85D8C76-473F-4980-AF93-CAC9CB03944EQ37767120-0C88984E-1A36-409D-8E30-FFE71DB371C1Q37791430-283DD000-4404-44FE-9031-6359EBC9F45AQ37952706-1F0AFD77-D3E7-4A38-A7E8-944451C5E63EQ37955726-A4397BB8-78BB-4C28-8C23-3496A7A4577EQ38183784-522BE3F3-7B21-4A44-8AD5-373F3DAE1D5CQ38722029-B1E4BDA8-0701-478F-8A9C-B07220319B6EQ38954801-FFD71D34-D2D3-42F8-8EC4-F38640388615Q38993061-0C209B0E-C0E4-4571-8822-3393B93B7D23Q39150019-7EB5044A-A547-4486-87F3-59E1C5DB2901Q39248493-C01415E9-4EA3-4AF1-8524-98A911325621Q39829133-D0388810-3DAE-4F0D-8512-618178CA6378Q42399841-5D04CB8C-99A9-4D65-AC1C-254088524579Q44446379-9ECA934C-C0AD-44C5-B40D-4344A2AF55D0
P2860
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 22 September 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Prevalence of mutations in ELA ...... severe congenital neutropenia.
@en
Prevalence of mutations in ELA ...... severe congenital neutropenia.
@nl
type
label
Prevalence of mutations in ELA ...... severe congenital neutropenia.
@en
Prevalence of mutations in ELA ...... severe congenital neutropenia.
@nl
prefLabel
Prevalence of mutations in ELA ...... severe congenital neutropenia.
@en
Prevalence of mutations in ELA ...... severe congenital neutropenia.
@nl
P2093
P2860
P1476
Prevalence of mutations in ELA ...... severe congenital neutropenia.
@en
P2093
Andrew A Aprikyan
Audrey A Bolyard
Daniel C Link
David C Dale
Elin Rodger
Steve Stein
P2860
P304
P356
10.1111/J.1365-2141.2009.07888.X
P407
P577
2009-09-22T00:00:00Z