نتایج جستجو برای: ژن kcnj11
تعداد نتایج: 16247 فیلتر نتایج به سال:
Investigation of KCNJ11 Gene Variant (rs 5219) in Patients with Diabetes after Liver Transplantation
Background & Objective: The incidence of diabetes in liver transplant recipients is one of the common problems among these patients witha negative effect on the success of the transplant and the patient's life. Post Transplant Diabetes Mellitus (PTDM) has many similarities with type 2 diabetes from pathophysiplogical, clinical, and genetic viewpoints... One of the genotypes involved in PTD...
OBJECTIVE To study the clinical and molecular characteristics of a sample of Brazilian patients with Congenital Hyperinsulinemic Hypoglycemia (CHH). METHODS Electronic message was sent to members from Endocrinology Department- Brazilian Society of Pediatrics requesting clinical data for all cases of CHH. A whole blood sample from living patients was requested for DNA extraction followed by a ...
Neonatal diabetes is a genetically heterogeneous disorder with nine different genetic aetiologies reported to date. Heterozygous activating mutations in the KCNJ11 gene encoding Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, are the most common cause of permanent neonatal diabetes. The sulphonylurea receptor (SUR) SUR1 serves as the regulatory subunit of the K...
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...
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