SREK1中下调SNORD115和SNORD116的双等位基因变异导致一种普拉德-威利样综合征。
Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi-like syndrome.
作者信息
Saeed Sadia, Siegert Anna-Maria, Tung Y C Loraine, Khanam Roohia, Janjua Qasim M, Manzoor Jaida, Derhourhi Mehdi, Toussaint Bénédicte, Lam Brian Yh, Mahmoud Sherine Awad, Vaillant Emmanuel, Buse Falay Emmanuel, Amanzougarene Souhila, Ayesha Hina, Khan Waqas I, Ramazan Nosheen, Saudek Vladimir, O'Rahilly Stephen, Goldstone Anthony P, Arslan Muhammad, Bonnefond Amélie, Froguel Philippe, Yeo Giles Sh
机构信息
INSERM UMR 1283, CNRS UMR 8199, European Genomic Institute for Diabetes, Institut Pasteur de Lille, Lille, France.
University of Lille, Lille University Hospital, Lille, France.
出版信息
J Clin Invest. 2025 Jun 22;135(16). doi: 10.1172/JCI191008. eCollection 2025 Aug 15.
Biallelic variations in SREK1 reduce SNORD115/116 expression, linking severe obesity and Prader-Willi-like traits, offering genetic and molecular insights into a new form of syndromic obesity.
SREK1中的双等位基因变异会降低SNORD115/116的表达，将严重肥胖与普拉德-威利样特征联系起来，为一种新形式的综合征性肥胖提供了遗传和分子层面的见解。
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