Novel SPEG variant cause centronuclear myopathy in China
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23054
Abstract: Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Centronuclear myopathy is a kind of disease difficult to diagnose due to its genetic diversity. Since… read more here.
Keywords: cause centronuclear; speg; speg variant; centronuclear myopathy ... See more keywords
Loss of SPEG Inhibitory Phosphorylation of Ryanodine Receptor Type-2 Promotes Atrial Fibrillation
Sign Up to like & getrecommendations! Published in 2020 at "Circulation"
DOI: 10.1161/circulationaha.120.045791
Abstract: Supplemental Digital Content is available in the text. Background: Enhanced diastolic calcium (Ca2+) release through ryanodine receptor type-2 (RyR2) has been implicated in atrial fibrillation (AF) promotion. Diastolic sarcoplasmic reticulum Ca2+ leak is caused by… read more here.
Keywords: mice; speg; phosphorylation; ca2 ... See more keywords
Genetic screening for hypertension and COVID-19 reveals functional variation of SPEG potentially associated with severe COVID-19 in women
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1041470
Abstract: The coronavirus disease 2019 (COVID-19) pandemic, caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has led to more than 6.4 million deaths worldwide. The prevalent comorbidity between hypertension and severe COVID-19 suggests common… read more here.
Keywords: speg; hypertension; severe covid; covid women ... See more keywords