York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1-Reference-Cited by-同舟云学术

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

Published:2015-03 Issue:3 Volume:114 Page:474-482
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Markello Thomas,Chen Dong,Kwan Justin Y.,Horkayne-Szakaly Iren,Morrison Alan,Simakova Olga,Maric Irina,Lozier Jay,Cullinane Andrew R.,Kilo Tatjana,Meister Lynn,Pakzad Kourosh,Bone William,Chainani Sanjay,Lee Elizabeth,Links Amanda,Boerkoel Cornelius,Fischer Roxanne,Toro Camilo,White James G.,Gahl William A.,Gunay-Aygun Meral

Funder

Intramural Research Programs of the National Human Genome Research Institute

Office of the Director's Common Fund

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference32 articles.

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2. Depletion of intracellular calcium stores activates a calcium current in mast cells;Hoth;Nature,1992

3. Orai1 (CRACM1) is the platelet SOC channel and essential for pathological thrombus formation;Braun;Blood,2009

4. The calcium sensor STIM1 is an essential mediator of arterial thrombosis and ischemic brain infarction;Varga-Szabo;J. Exp. Med.,2008

5. An EF hand mutation in Stim1 causes premature platelet activation and bleeding in mice;Grosse;J. Clin. Invest.,2007

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