Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
about
Human genome sequencing in health and diseaseACTN1 mutations cause congenital macrothrombocytopeniaA missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French familyInherited platelet disorders: toward DNA-based diagnosisLinkage between the mechanisms of thrombocytopenia and thrombopoiesisGenomic landscape of megakaryopoiesis and platelet function defectsGenotyping and phenotyping of platelet function disordersDisease gene identification strategies for exome sequencingDeleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunitySpontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in MiceLarge-scale production of megakaryocytes from human pluripotent stem cells by chemically defined forward programmingNeurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humansMegakaryopoiesis and platelet production: insight into hematopoietic stem cell proliferation and differentiationVPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytesAbnormal megakaryocyte development and platelet function in Nbeal2(-/-) miceGray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice.The European Hematology Association Roadmap for European Hematology Research: a consensus documentWhole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.Impact of the next-generation sequencing data depth on various biological result inferences.Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country.Inherited thrombocytopenias: an approach to diagnosis and management.Genetics of familial forms of thrombocytopenia.NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiencyPathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists.Congenital platelet disorders and understanding of platelet function.Interpreting the developmental dance of the megakaryocyte: a review of the cellular and molecular processes mediating platelet formation.A case of gray platelet syndrome masked by immune thrombocytopenia at presentation.Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.The Nbeal2(-/-) mouse as a model for the gray platelet syndrome.A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene.Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.Molecular basis of inherited thrombocytopenias.Hematopoietic transcription factor mutations and inherited platelet dysfunction.A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patientsInherited 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.
P2860
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P2860
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
description
2011 nî lūn-bûn
@nan
2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
@ast
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
@en
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
@en-gb
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
@nl
type
label
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
@ast
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
@en
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
@en-gb
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
@nl
prefLabel
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
@ast
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
@en
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
@en-gb
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
@en
P2093
Alan Nurden
Botond Sipos
Cornelis A Albers
Evelien E Bouwmans
Graham Kiddle
Jonathan Stephens
Katrin Voss
Marie-Christine Alessi
Paquita Nurden
Peter A Smethurst
P2860
P2888
P3181
P356
10.1038/NG.885
P407
P577
2011-08-01T00:00:00Z
P5875
P6179
1050432107