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York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.
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. Markello T, et al. Among authors: simakova o. Mol Genet Metab. 2015 Mar;114(3):474-82. doi: 10.1016/j.ymgme.2014.12.307. Epub 2014 Dec 24. Mol Genet Metab. 2015. PMID: 25577287 Free PMC article.
A distinct biomolecular profile identifies monoclonal mast cell disorders in patients with idiopathic anaphylaxis.
Carter MC, Desai A, Komarow HD, Bai Y, Clayton ST, Clark AS, Ruiz-Esteves KN, Long LM, Cantave D, Wilson TM, Scott LM, Simakova O, Jung MY, Hahn J, Maric I, Metcalfe DD. Carter MC, et al. Among authors: simakova o. J Allergy Clin Immunol. 2018 Jan;141(1):180-188.e3. doi: 10.1016/j.jaci.2017.05.036. Epub 2017 Jun 16. J Allergy Clin Immunol. 2018. PMID: 28629749 Free PMC article. Clinical Trial.
Clonal analysis of NRAS activating mutations in KIT-D816V systemic mastocytosis.
Wilson TM, Maric I, Simakova O, Bai Y, Chan EC, Olivares N, Carter M, Maric D, Robyn J, Metcalfe DD. Wilson TM, et al. Among authors: simakova o. Haematologica. 2011 Mar;96(3):459-63. doi: 10.3324/haematol.2010.031690. Epub 2010 Dec 6. Haematologica. 2011. PMID: 21134978 Free PMC article.
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