Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. - Wikidata - wikimedia - TriplyDB

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

http://www.wikidata.org/entity/Q33397412

about

ACTN1 mutations cause congenital macrothrombocytopenia A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family Inherited platelet disorders: toward DNA-based diagnosis Linkage between the mechanisms of thrombocytopenia and thrombopoiesis Expression of the TEL-Syk fusion protein in hematopoietic stem cells leads to rapidly fatal myelofibrosis in mice Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia.New insights into the versatile roles of platelet FlnA.Does size matter in platelet production?Inherited thrombocytopenias: an approach to diagnosis and management.Genetics of familial forms of thrombocytopenia.Inherited thrombocytopenias frequently diagnosed in adults.Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists.Loss of the F-BAR protein CIP4 reduces platelet production by impairing membrane-cytoskeleton remodeling Congenital platelet disorders and understanding of platelet function.Lessons in platelet production from inherited thrombocytopenias.The role of calpain-myosin 9-Rab7b pathway in mediating the expression of Toll-like receptor 4 in platelets: a novel mechanism involved in α-granules trafficking.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.Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan.A diagnostic approach that may help to discriminate inherited thrombocytopenia from chronic immune thrombocytopenia in adult patients.Inherited thrombocytopenias-recent advances in clinical and molecular aspects.Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders.A Cdc42/RhoA regulatory circuit downstream of glycoprotein Ib guides transendothelial platelet biogenesis.FlnA binding to PACSIN2 F-BAR domain regulates membrane tubulation in megakaryocytes and platelets Regulation of actin polymerization by tropomodulin-3 controls megakaryocyte actin organization and platelet biogenesis.Lung disease associated with filamin A gene mutation: a case report Platelets: Context-Dependent Vascular Protectors or Mediators of Disease.A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders The contribution of platelet studies to the understanding of disease mechanisms in complex and monogenetic neurological disorders.Of von Willebrand factor and platelets.Systems biology of platelet-vessel wall interactions.Cdc42-dependent F-actin dynamics drive structuration of the demarcation membrane system in megakaryocytes.Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation.Megakaryocytic irreversible P-TEFb activation.Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients.Mechanisms of integrin and filamin binding and their interplay with talin during early focal adhesion formation.

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P2860

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

http://www.wikidata.org/entity/Q33397412

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2011 nî lūn-bûn

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2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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Thrombocytopenia resulting fro ...... essed as an isolated syndrome.

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Thrombocytopenia resulting fro ...... essed as an isolated syndrome.

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Thrombocytopenia resulting fro ...... essed as an isolated syndrome.

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Thrombocytopenia resulting fro ...... ressed as an isolated syndrome

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Anne-Cécile Pons

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Benoît Arveiler

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Cyril Goizet

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Dorothée Cailley

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