Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.

Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.

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http://www.wikidata.org/entity/Q37228334
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematological abnormalities of sitosterolemia.Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.Diagnosis of inherited bleeding disorders in the genomic era.ISTH Advanced Training Course on platelet bleeding disorders: How should they be investigated?St. Anne's College, Oxford, 6-9th September 2016.Mice Expressing Low Levels of CalDAG-GEFI Exhibit Markedly Impaired Platelet Activation With Minor Impact on Hemostasis.A Histidine pH sensor regulates activation of the Ras-specific guanine nucleotide exchange factor RasGRP1.Peripartum bleeding management in a patient with CalDAG-GEFI deficiency.Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis.Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp).High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders.Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.Calcium-induced structural rearrangements release autoinhibition in the Rap-GEF, CalDAG-GEFI.
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Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.

Item
http://www.wikidata.org/entity/Q37228334
description
article científic
@ca
article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 27 May 2016
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vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Novel mutations in RASGRP2, wh ...... causing platelet dysfunction.
@en
Novel mutations in RASGRP2, wh ...... causing platelet dysfunction.
@nl
type
label
Novel mutations in RASGRP2, wh ...... causing platelet dysfunction.
@en
Novel mutations in RASGRP2, wh ...... causing platelet dysfunction.
@nl
prefLabel
Novel mutations in RASGRP2, wh ...... causing platelet dysfunction.
@en
Novel mutations in RASGRP2, wh ...... causing platelet dysfunction.
@nl
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P1476
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P2860
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P356
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P1476
Novel mutations in RASGRP2, wh ...... causing platelet dysfunction.
@en
P2093
P2860
P304
P31
P356
10.1182/BLOOD-2015-11-683102
P407
P433
P478
P50
P577
P698
P932