Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
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Two mammalian MAGOH genes contribute to exon junction complex composition and nonsense-mediated decayInherited platelet disorders: toward DNA-based diagnosisLinkage between the mechanisms of thrombocytopenia and thrombopoiesisGenotyping and phenotyping of platelet function disordersNonsense-mediated mRNA decay: inter-individual variability and human diseaseTranscription factors in late megakaryopoiesis and related platelet disordersLarge-scale production of megakaryocytes from human pluripotent stem cells by chemically defined forward programmingGuidelines for investigating causality of sequence variants in human diseaseSMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.The genomics of inherited bone marrow failure: from mechanism to the clinic.The exon junction complex in neural development and neurodevelopmental disease.Genetics of familial forms of thrombocytopenia.Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome.Inherited thrombocytopenias frequently diagnosed in adults.Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists.Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case reportGenomic characterization of the inherited bone marrow failure syndromes.Congenital platelet disorders and understanding of platelet function.Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivationLessons in platelet production from inherited thrombocytopenias.Update on the causes of platelet disorders and functional consequences.Inherited bone marrow failure syndromes in adolescents and young adults.A novel acquired inv(2)(p23.3q24.3) with concurrent submicroscopic deletions at 2p23.3, 2p22.1, 2q24.3 and 1p13.2 in a patient with chronic thrombocytopenia and anemiaReconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome.Function and pathological implications of exon junction complex factor Y14Diagnosis and treatment of inherited thrombocytopenias.Molecular basis of inherited thrombocytopenias.Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets.Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case.Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic ThrombocytopeniaNeonatal manifestations of inherited bone marrow failure syndromes.Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan.Inherited thrombocytopenias-recent advances in clinical and molecular aspects.Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.Genomics of platelet disorders.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.Hematopoietic transcription factor mutations: important players in inherited platelet defects.
P2860
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P2860
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
description
2012 nî lūn-bûn
@nan
2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Compound inheritance of a low- ...... nit RBM8A causes TAR syndrome.
@ast
Compound inheritance of a low- ...... nit RBM8A causes TAR syndrome.
@en
type
label
Compound inheritance of a low- ...... nit RBM8A causes TAR syndrome.
@ast
Compound inheritance of a low- ...... nit RBM8A causes TAR syndrome.
@en
prefLabel
Compound inheritance of a low- ...... nit RBM8A causes TAR syndrome.
@ast
Compound inheritance of a low- ...... nit RBM8A causes TAR syndrome.
@en
P2093
P2860
P50
P356
P1433
P1476
Compound inheritance of a low- ...... nit RBM8A causes TAR syndrome.
@en
P2093
Catherine M Hobbs
Chantal Thys
Chris van Geet
Claudia A L Ruivenkamp
Cornelis A Albers
Derek L Stemple
Gabriele Strauss
Graham Kiddle
Harald Schulze
Ingrid Krapels
P2860
P2888
P304
435-9, S1-2
P356
10.1038/NG.1083
P407
P50
P577
2012-02-26T00:00:00Z
P5875
P6179
1021293542