Gestasyonel diyabet gelişiminde KCNJ11 geninin rolü
نویسندگان
چکیده
منابع مشابه
Psychiatric morbidity in children with KCNJ11 neonatal diabetes
AIMS Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the pancreatic KATP channel, cause neonatal diabetes. KCNJ11 is also expressed in the brain, and ~ 20% of those affected have neurological features, which may include features suggestive of psychiatric disorder. No previous studies have systematically characterized the psychiatric morbidity in people with KCNJ11 neonatal dia...
متن کاملAssociation of KCNJ11 with impaired glucose regulation in essential hypertension.
KCNJ11 is one of the candidate genes for type 2 diabetes, confirmed by genome wide association study, but there are little data on the relationship between KCNJ11 and impaired glucose regulation in essential hypertension patients. To identify the effect of E23K and I337V in the KCNJ11 gene on susceptibility to impaired glucose regulation, we conducted a case control study in 1125 essential hype...
متن کاملDEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea
Permanent neonatal diabetes mellitus (PNDM) is caused by mutations in the ATP-sensitive potassium channel (KATP channel) subunits. Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome is the most severe form of PNDM and is characterized by various neurologic features. We report on a patient with DEND syndrome following initial misdiagnosis with type 1 DM, who was successfully sw...
متن کاملRelapsing diabetes can result from moderately activating mutations in KCNJ11.
Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenotypes were considered to be genetically distinct. Abnormalities of 6q24 are the commonest cause of transient neonatal diabetes (TNDM). Mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium channel (K(ATP)), are the commonest cause of permanent neonatal ...
متن کاملKCNJ11: Genetic Polymorphisms and Risk of Diabetes Mellitus
Diabetes mellitus (DM) is a major worldwide health problem and its prevalence has been rapidly increasing in the last century. It is caused by defects in insulin secretion or insulin action or both, leading to hyperglycemia. Of the various types of DM, type 2 occurs most frequently. Multiple genes and their interactions are involved in the insulin secretion pathway. Insulin secretion is mediate...
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ژورنال
عنوان ژورنال: Genel Tip Dergisi
سال: 2015
ISSN: 1301-191X
DOI: 10.15321/geneltipder.2015414662