ACTN1 mutations cause congenital macrothrombocytopenia - Wikidata - awgldk - TriplyDB

ACTN1 mutations cause congenital macrothrombocytopenia

ACTN1 mutations cause congenital macrothrombocytopenia

http://www.wikidata.org/entity/Q24319165

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The structure and regulation of human muscle α-actinin A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family The Increasing Importance of Gene-Based Analyses Inherited platelet disorders: toward DNA-based diagnosis Linkage between the mechanisms of thrombocytopenia and thrombopoiesis The secret life of a megakaryocyte: emerging roles in bone marrow homeostasis control Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans The actinin family of actin cross-linking proteins - a genetic perspective.Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia.Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists.Congenital platelet disorders and understanding of platelet function.TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia.Lessons in platelet production from inherited thrombocytopenias.Update on the causes of platelet disorders and functional consequences.miR-142 orchestrates a network of actin cytoskeleton regulators during megakaryopoiesis A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene.ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization Inherited thrombocytopenias: the beat goes on.Diagnosis and treatment of inherited thrombocytopenias.Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.Molecular basis of inherited thrombocytopenias.Immature platelet fraction measurement is influenced by platelet size and is a useful parameter for discrimination of macrothrombocytopenia.Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia ACTN1 rod domain mutation associated with congenital macrothrombocytopenia.Congenital macrothrombocytopenia-linked mutations in the actin-binding domain of α-actinin-1 enhance F-actin association.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.Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders.The genetics of platelet count and volume in humans.Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.Regulation of actin polymerization by tropomodulin-3 controls megakaryocyte actin organization and platelet biogenesis.Paroxysmal nocturnal hemoglobinuria and telomere length predicts response to immunosuppressive therapy in pediatric aplastic anemia.Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia Novel and recurrent ATP2A2 mutations in Japanese patients with Darier's disease.Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing.

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P2860

ACTN1 mutations cause congenital macrothrombocytopenia

http://www.wikidata.org/entity/Q24319165

description

2013 nî lūn-bûn

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2013 թուականի Մարտին հրատարակուած գիտական յօդուած

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2013 թվականի մարտին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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name

ACTN1 mutations cause congenital macrothrombocytopenia

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ACTN1 mutations cause congenital macrothrombocytopenia

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ACTN1 mutations cause congenital macrothrombocytopenia

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ACTN1 mutations cause congenital macrothrombocytopenia

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type

label

ACTN1 mutations cause congenital macrothrombocytopenia

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ACTN1 mutations cause congenital macrothrombocytopenia

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ACTN1 mutations cause congenital macrothrombocytopenia

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ACTN1 mutations cause congenital macrothrombocytopenia

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prefLabel

ACTN1 mutations cause congenital macrothrombocytopenia

@ast

ACTN1 mutations cause congenital macrothrombocytopenia

@en

ACTN1 mutations cause congenital macrothrombocytopenia

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ACTN1 mutations cause congenital macrothrombocytopenia

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J.AJHG.2013.01.015

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American Journal of Human Genetics

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ACTN1 mutations cause congenital macrothrombocytopenia

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Akihiro Iguchi

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Gen Niimi

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Hidehiko Saito

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Hideki Muramatsu

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Hiroko Tanaka

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Kenichi Chiba

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Koji Miyazaki

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Masashi Sanada

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Masatoshi Ohtake

http://www.w3.org/2001/XMLSchema#string

Michio Sakai

http://www.w3.org/2001/XMLSchema#string

P2860

Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly

Fast and accurate short read alignment with Burrows-Wheeler transform

Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

Genetic abnormalities of Bernard-Soulier syndrome

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia

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431-438

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2434064

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10.1016/J.AJHG.2013.01.015

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3

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92

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Kenichi Yoshida

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2013-02-21T00:00:00Z

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235715569

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23434115

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Actinin alpha 1

Giant platelet disorder

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3591851

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