Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.
about
ACTN1 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 defectsGlanzmann's thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment optionsIntegrin β3 Haploinsufficiency Modulates Serotonin Transport and Antidepressant-Sensitive Behavior in MiceFunctional comparison of induced pluripotent stem cell- and blood-derived GPIIbIIIa deficient plateletsα(V)β(3) integrin crystal structures and their functional implicationsGenetics of familial forms of thrombocytopenia.Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis.A V740L mutation in glycoprotein IIb defines a novel epitope (War) associated with fetomaternal alloimmune thrombocytopenia.Congenital platelet disorders and understanding of platelet function.Update on the causes of platelet disorders and functional consequences.Targeting integrin and integrin signaling in treating thrombosis.αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombastheniaIdiopathic Pulmonary Embolism in a case of Severe Family ANKRD26 Thrombocytopenia.Glanzmann thrombasthenia: state of the art and future directions.Genetic sequence analysis of inherited bleeding diseases.Molecular dynamics analysis of a novel β3 Pro189Ser mutation in a patient with glanzmann thrombasthenia differentially affecting αIIbβ3 and αvβ3 expression.Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome.C560Rβ3 caused platelet integrin αII b β3 to bind fibrinogen continuously, but resulted in a severe bleeding syndrome and increased murine mortalityIntegrin αIIbβ3: from discovery to efficacious therapeutic targetIn Vivo RNAi screening identifies a leukemia-specific dependence on integrin beta 3 signalingProcoagulant platelets form an α-granule protein-covered "cap" on their surface that promotes their attachment to aggregates.Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype.Quantitative proteomics and integrative network analysis identified novel genes and pathways related to osteoporosis.What we have learned from inherited platelet disorders.Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.The platelet fibrinogen receptor: from megakaryocyte to the mortuary.What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?Kindlin-3 in the immune system.The international, prospective Glanzmann Thrombasthenia Registry: treatment modalities and outcomes of non-surgical bleeding episodes in patients with Glanzmann thrombasthenia.Inherited disorders of platelet function: selected updates.Natural and artificial mutations in αIIb integrin lead to a structural deformation of a calcium-binding site.Clinical utility gene card for: Glanzmann thrombasthenia.Glycoprotein Ib-IX-V Complex Transmits Cytoskeletal Forces That Enhance Platelet Adhesion.Two novel ITGA2B mutations in a Glanzmann thrombasthaenia family associated with different platelet phenotypic expressionEvaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: Association with bleeding symptoms.
P2860
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P2860
Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年学术文章
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2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
name
Glanzmann thrombasthenia: a re ...... variability, and mouse models.
@ast
Glanzmann thrombasthenia: a re ...... variability, and mouse models.
@en
Glanzmann thrombasthenia: a re ...... variability, and mouse models.
@nl
type
label
Glanzmann thrombasthenia: a re ...... variability, and mouse models.
@ast
Glanzmann thrombasthenia: a re ...... variability, and mouse models.
@en
Glanzmann thrombasthenia: a re ...... variability, and mouse models.
@nl
prefLabel
Glanzmann thrombasthenia: a re ...... variability, and mouse models.
@ast
Glanzmann thrombasthenia: a re ...... variability, and mouse models.
@en
Glanzmann thrombasthenia: a re ...... variability, and mouse models.
@nl
P2093
P1433
P1476
Glanzmann thrombasthenia: a re ...... variability, and mouse models.
@en
P2093
Alan T Nurden
Mathieu Fiore
Paquita Nurden
Xavier Pillois
P304
P356
10.1182/BLOOD-2011-07-365635
P407
P577
2011-09-13T00:00:00Z