Ontology highlight
ABSTRACT:
SUBMITTER: Gong M
PROVIDER: S-EPMC6503015 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Gong Maolian M Yu Yong Y Liang Lei L Vuralli Dogus D Froehler Sebastian S Kuehnen Peter P Du Bois Philipp P Zhang Jingjing J Cao Aidi A Liu Yuantao Y Hussain Khalid K Fielitz Jens J Jia Shiqi S Chen Wei W Raile Klemens K
Molecular genetics & genomic medicine 20190409 5
<h4>Background</h4>Studying patients with rare Mendelian diabetes has uncovered molecular mechanisms regulating β-cell pathophysiology. Previous studies have shown that Class IIa histone deacetylases (HDAC4, 5, 7, and 9) modulate mammalian pancreatic endocrine cell function and glucose homeostasis.<h4>Methods</h4>We performed exome sequencing in one adolescent nonautoimmune diabetic patient and detected one de novo predicted disease-causing HDAC4 variant (p.His227Arg). We screened our pediatric ...[more]