Functional analysis of HADH c.99C>G shows that the variant causes the proliferation of pancreatic islets and leu-sensitive hyperinsulinaemia.

Long, Wu; Wang, Yue-Bing; Qu, Peng-Fei; Ma, Lin; Wei, Si-Jie; Xi, Yan-Mei; Du, Jin-Liang; Tang, Xue; Liu, Kai; Li, Yu-Hua; Lei, Pu-Ping

Long, Wu; Wang, Yue-Bing; Qu, Peng-Fei; Ma, Lin; Wei, Si-Jie; Xi, Yan-Mei; Du, Jin-Liang; Tang, Xue; Liu, Kai; Li, Yu-Hua; Lei, Pu-Ping.

Affiliation

Long W; Department of Forensic Medicine, Kunming Medical University, Kunming, Yunnan Province 650500, People's Republic of China. puping.jacky@qq.com.

J Genet ; 1012022.

Article in En | MEDLINE | ID: mdl-36226343

Subject(s)

Hyperinsulinism; Islets of Langerhans; 3-Hydroxyacyl-CoA Dehydrogenase/metabolism; Animals; Blood Glucose/metabolism; Carboxymethylcellulose Sodium/metabolism; Carboxymethylcellulose Sodium/pharmacology; Cell Proliferation; Glucagon/metabolism; Glucagon/pharmacology; Glucose/metabolism; Glucose/pharmacology; Hyperinsulinism/genetics; Hyperinsulinism/metabolism; Insulin; Islets of Langerhans/metabolism; Leucine/metabolism; Leucine/pharmacology; Rats; Sodium/metabolism; Sodium/pharmacology

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Collection: 01-internacional Database: MEDLINE Main subject: Islets of Langerhans / Hyperinsulinism Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Animals Language: En Journal: J Genet Year: 2022 Document type: Article Country of publication: India

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