Concepedia

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

Thomas C. Markello, Dong Chen, Justin Kwan, Iren Horkayne‐Szakaly, Alan Morrison, Olga Šimáková, Irina Marić, Jay N. Lozier, Andrew R. Cullinane, Tatjana Kilo,

Molecular Genetics and Metabolism · 2014 · 110 citations · 19 references

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19

A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function

Stefan Feske, Yousang Gwack, Murali Prakriya et al. · Nature · 2006 · 2.3K citations

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Depletion of intracellular calcium stores activates a calcium current in mast cells

Markus Hoth, Reinhold Penner · Nature · 1992 · 1.7K citations

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Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

Jared C. Roach, Gustavo Glusman, Arian F. A. Smit et al. · Science · 2010 · 1.1K citations · Full text

, , +17

<i>STIM1</i> Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity

Capucine Pïcard, Christie‐Ann McCarl, Alexander Papolos et al. · New England Journal of Medicine · 2009 · 504 citations · Full text

, , +17

Structural and Mechanistic Insights into STIM1-Mediated Initiation of Store-Operated Calcium Entry

Peter B. Stathopulos, Le Zheng, Guangyao Li et al. · Cell · 2008 · 470 citations · Full text

, , +16