A clinical case of neonatal diabetes caused by INS gene mutation
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DOI: 10.14341/dm9876
Abstract: Neonatal diabetes mellitus (NDM) is a severe endocrine pathology diagnosed in children during the first months of life. It comprises rare (1:300 0001:400 000 newborns) metabolic disorders with postnatal pancreatic -cell dysfunction, manifested by hyperglycaemia… read more here.
Keywords: gene mutation; gene; clinical case; ins gene ... See more keywords
Role of Proinsulin Self-Association in Mutant INS Gene–Induced Diabetes of Youth
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DOI: 10.2337/db19-1106
Abstract: Abnormal interactions between misfolded mutant and wild-type (WT) proinsulin (PI) in the endoplasmic reticulum (ER) drive the molecular pathogenesis of mutant INS gene–induced diabetes of youth (MIDY). How these abnormal interactions are initiated remains unknown.… read more here.
Keywords: mutant ins; gene induced; induced diabetes; diabetes youth ... See more keywords
Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations
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DOI: 10.3389/fendo.2022.866573
Abstract: Background Neonatal diabetes mellitus (NDM) is a rare (1:90,000 newborns) but potentially devastating metabolic disorder characterized by hyperglycemia combined with low levels of insulin. Dominantly-acting insulin (INS) gene mutations cause permanent NDM through single amino… read more here.
Keywords: gene mutations; ins gene; etiology; diabetes mellitus ... See more keywords