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Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Morin G, Biancalana V, Echaniz-Laguna A, Noury JB, Lornage X, Moggio M, Ripolone M, Violano R, Marcorelles P, Maréchal D, Renaud F, Maurage CA, Tard C, Cuisset JM, Laporte J, Böhm J. Morin G, et al. Hum Mutat. 2020 Jan;41(1):17-37. doi: 10.1002/humu.23899. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31448844 Review.
Recessive loss-of-function mutations impair SOCE and cause combined immunodeficiency, while dominant gain-of-function mutations induce excessive extracellular Ca(2+) entry and cause tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK). TAM and STRMK are …
Recessive loss-of-function mutations impair SOCE and cause combined immunodeficiency, while dominant gain-of-function mutations induce exces …
Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome.
Böhm J, Laporte J. Böhm J, et al. Cell Calcium. 2018 Dec;76:1-9. doi: 10.1016/j.ceca.2018.07.008. Epub 2018 Sep 3. Cell Calcium. 2018. PMID: 30243034 Review.
Gain-of-function mutations in the respective genes induce excessive Ca(2+) entry, and cause tubular aggregate myopathy (TAM) and Stormorken syndrome. Both disorders are part of a clinical continuum and involve muscle weakness and additional variably pronounced featu …
Gain-of-function mutations in the respective genes induce excessive Ca(2+) entry, and cause tubular aggregate myopathy (TAM) and Stormork …
Inherited disorders of platelet function: selected updates.
Nurden AT, Nurden P. Nurden AT, et al. J Thromb Haemost. 2015 Jun;13 Suppl 1:S2-9. doi: 10.1111/jth.12898. J Thromb Haemost. 2015. PMID: 26149024 Free article. Review.
Next-generation sequencing technology (NGST), mainly exome sequencing, has highlighted genes responsible for defects in platelet secretion (NBEAL2, gray platelet syndrome), procoagulant activity (STIM1, Stormorken syndrome), and activation pathways (RASGRP2, CalDAG- …
Next-generation sequencing technology (NGST), mainly exome sequencing, has highlighted genes responsible for defects in platelet secretion ( …
Diseases caused by mutations in ORAI1 and STIM1.
Lacruz RS, Feske S. Lacruz RS, et al. Ann N Y Acad Sci. 2015 Nov;1356(1):45-79. doi: 10.1111/nyas.12938. Epub 2015 Oct 15. Ann N Y Acad Sci. 2015. PMID: 26469693 Free PMC article. Review.
CRAC channels and disease - From human CRAC channelopathies and animal models to novel drugs.
Feske S. Feske S. Cell Calcium. 2019 Jun;80:112-116. doi: 10.1016/j.ceca.2019.03.004. Epub 2019 Mar 11. Cell Calcium. 2019. PMID: 31009822 Free PMC article. Review.
Conversely, gain-of-function (GOF) mutations in ORAI1 and STIM1 are associated with tubular aggregate myopathy (TAM) and Stormorken syndrome due to constitutive CRAC channel activation. In addition, genetically engineered animal models of ORAI and STIM function have …
Conversely, gain-of-function (GOF) mutations in ORAI1 and STIM1 are associated with tubular aggregate myopathy (TAM) and Stormorken …
Procoagulant expression in platelets and defects leading to clinical disorders.
Solum NO. Solum NO. Arterioscler Thromb Vasc Biol. 1999 Dec;19(12):2841-6. doi: 10.1161/01.atv.19.12.2841. Arterioscler Thromb Vasc Biol. 1999. PMID: 10591659 Review.
Scott syndrome is probably caused by a defect in the activation of an otherwise normal scramblase, resulting in a relatively severe bleeding tendency. In Stormorken syndrome, the patients demonstrate a spontaneous surface expression of aminophospholipids. ...
Scott syndrome is probably caused by a defect in the activation of an otherwise normal scramblase, resulting in a relatively severe bleeding …