GFI1B mutation causes a bleeding disorder with abnormal platelet function.
about
Inherited platelet disorders: toward DNA-based diagnosisLinkage between the mechanisms of thrombocytopenia and thrombopoiesisFrom cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formationErythro-megakaryocytic transcription factors associated with hereditary anemiaWhole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.Congenital platelet disorders and understanding of platelet function.Lessons in platelet production from inherited thrombocytopenias.Update on the causes of platelet disorders and functional consequences.A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene.Diagnosis and treatment of inherited thrombocytopenias.Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.Molecular basis of inherited thrombocytopenias.Hematopoietic transcription factor mutations and inherited platelet dysfunction.Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan.Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia.Inherited thrombocytopenias-recent advances in clinical and molecular aspects.Inherited platelet dysfunction and hematopoietic transcription factor mutations.Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management.The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer.Gfi1b controls integrin signaling-dependent cytoskeleton dynamics and organization in megakaryocytes.Hematopoietic transcription factor mutations: important players in inherited platelet defects.GFI1B variants associated with thrombocytopenia.Distinct, strict requirements for Gfi-1b in adult bone marrow red cell and platelet generation.Transcriptional diversity during lineage commitment of human blood progenitors.Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?Inherited disorders of platelet function: selected updates.Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?Transcription Factor GFI1B in Health and Disease.Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.Thrombocytopenia and CD34 expression is decoupled from α-granule deficiency with mutation of the first growth factor-independent 1B zinc finger.Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.The life cycle of platelet granules.They're not your daddy's inherited platelet disorders anymore.
P2860
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P2860
GFI1B mutation causes a bleeding disorder with abnormal platelet function.
description
2013 nî lūn-bûn
@nan
2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
GFI1B mutation causes a bleeding disorder with abnormal platelet function.
@ast
GFI1B mutation causes a bleeding disorder with abnormal platelet function.
@en
type
label
GFI1B mutation causes a bleeding disorder with abnormal platelet function.
@ast
GFI1B mutation causes a bleeding disorder with abnormal platelet function.
@en
prefLabel
GFI1B mutation causes a bleeding disorder with abnormal platelet function.
@ast
GFI1B mutation causes a bleeding disorder with abnormal platelet function.
@en
P2093
P2860
P50
P356
P1476
GFI1B mutation causes a bleeding disorder with abnormal platelet function
@en
P2093
C J Bromhead
R Turakulov
W S Stevenson
P2860
P304
P356
10.1111/JTH.12368
P577
2013-11-01T00:00:00Z