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10.1016/j.ymgme.2014.12.307 http://scihub22266oqcxt.onion/10.1016/j.ymgme.2014.12.307 C4355183!4355183!25577287     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Mol+Genet+Metab 2015 ; 114 (3): 474-82 Nephropedia Template TP {{tp|p=25577287|t=2015. York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1 |pdf=|usr=}}{{25577287}} gab.com Text York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1 JO: Mol Genet Metab http://www.kidney.de/pget.php?&tw=1&pmid=25577287 #FOAvip Store-operated Ca2+ entry is the major route of replenishment of intracellular Ca2+ in animal cells in response to depletion of Ca2+ stores in the endoplasmic reticulum. It is primarily mediated by the Ca2+ selective release-activated Ca2+ (CRAC) channel which consists of the pore-forming subunits ORAI1?3 and the Ca2+ sensors, STIM1 and STIM2. Recessive loss-of-function mutations in STIM1 or ORAI1 result in immune deficiency and nonprogressive myopathy. Heterozygous gain-of-function mutations in STIM1 cause non-syndromic myopathies as well as syndromic forms of miosis and myopathy with tubular aggregates and Stormorken syndrome; some of these syndromic forms are associated with thrombocytopenia. Increased concentration of Ca2+ as a result of store-operated Ca2+ entry is essential for platelet activation. York Platelet syndrome (YPS) is characterized by thrombocytopenia, striking ultrastructural platelet abnormalities including giant electron opaque organelles and massive, multi-layered target bodies and deficiency of platelet Ca2+ storage in delta granules. We present clinical and molecular findings in 7 YPS patients from 4 families, demonstrating that YPS patients have a chronic myopathy associated with rimmed vacuoles and heterozygous gain-of-function STIM1 mutations. These findings expand the phenotypic spectrum of STIM1-related human disorders and define the molecular basis of YPS. Twit Text FOAVip York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1 ????Mol Genet Metab http://www.kidney.de/pget.php?&tw=1&pmid=25577287 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25577287 #FOAvip English Wikipedia <ref>{{Cite pmid|25577287}}</ref> York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1 #MMPMID25577287 Markello T; Chen D; Kwan JY; Horkayne-Szakaly I; Morrison A; Simakova O; Maric I; Lozier J; Cullinane AR; Kilo T; Meister L; Pakzad K; Bone W; Chainani S; Lee E; Links A; Boerkoel C; Fischer R; Toro C; White JG; Gahl WA; Gunay-Aygun M Mol Genet Metab 2015[Mar]; 114 (3): 474-82 PMID25577287show ga Store-operated Ca2+ entry is the major route of replenishment of intracellular Ca2+ in animal cells in response to depletion of Ca2+ stores in the endoplasmic reticulum. It is primarily mediated by the Ca2+ selective release-activated Ca2+ (CRAC) channel which consists of the pore-forming subunits ORAI1?3 and the Ca2+ sensors, STIM1 and STIM2. Recessive loss-of-function mutations in STIM1 or ORAI1 result in immune deficiency and nonprogressive myopathy. Heterozygous gain-of-function mutations in STIM1 cause non-syndromic myopathies as well as syndromic forms of miosis and myopathy with tubular aggregates and Stormorken syndrome; some of these syndromic forms are associated with thrombocytopenia. Increased concentration of Ca2+ as a result of store-operated Ca2+ entry is essential for platelet activation. York Platelet syndrome (YPS) is characterized by thrombocytopenia, striking ultrastructural platelet abnormalities including giant electron opaque organelles and massive, multi-layered target bodies and deficiency of platelet Ca2+ storage in delta granules. We present clinical and molecular findings in 7 YPS patients from 4 families, demonstrating that YPS patients have a chronic myopathy associated with rimmed vacuoles and heterozygous gain-of-function STIM1 mutations. These findings expand the phenotypic spectrum of STIM1-related human disorders and define the molecular basis of YPS. äYork platelet syndrome is a CRAC channelopathy due to gain-of-function(epmc).pdf DeepDyve Pubget Overpricing