Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic
variants in ABCC8 and KCNJ11. These genes encode the subunits of the β‐cell ATP …
variants in ABCC8 and KCNJ11. These genes encode the subunits of the β‐cell ATP …
[HTML][HTML] Potassium channels in behavioral brain disorders. Molecular mechanisms and therapeutic potential: a narrative review.
Abstract Potassium channels (K+-channels) selectively control the passive flow of potassium
ions across biological membranes and thereby also regulate membrane excitability. Genetic …
ions across biological membranes and thereby also regulate membrane excitability. Genetic …
[PDF][PDF] ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents
AT Hattersley, SAW Greeley, M Polak… - 2018 - ore.exeter.ac.uk
Monogenic diabetes results from one or more defects in a single gene. The disease may be
inherited within families as a dominant, recessive or non-Mendelian trait or may present as a …
inherited within families as a dominant, recessive or non-Mendelian trait or may present as a …
[HTML][HTML] ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents
ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of
monogenic diabetes in children and adolescents - PMC Back to Top Skip to main content NIH …
monogenic diabetes in children and adolescents - PMC Back to Top Skip to main content NIH …
[HTML][HTML] The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study
Background Traditional genetic testing focusses on analysis of one or a few genes
according to clinical features; this approach is changing as improved sequencing methods …
according to clinical features; this approach is changing as improved sequencing methods …
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6. 2 mutations
Background Heterozygous activating mutations in KCNJ11, encoding the Kir6. 2 subunit of
the ATP-sensitive potassium (KATP) channel, cause 30 to 58 percent of cases of diabetes …
the ATP-sensitive potassium (KATP) channel, cause 30 to 58 percent of cases of diabetes …
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations
Context: The interpretation of novel missense variants is a challenge with increasing
numbers of such variants being identified and a responsibility to report the findings in the …
numbers of such variants being identified and a responsibility to report the findings in the …
Activating Mutations in the ABCC8 Gene in Neonatal Diabetes Mellitus
Background The ATP-sensitive potassium (KATP) channel, composed of the beta-cell
proteins sulfonylurea receptor (SUR1) and inward-rectifying potassium channel subunit Kir6 …
proteins sulfonylurea receptor (SUR1) and inward-rectifying potassium channel subunit Kir6 …
Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene
Background Macrosomia is associated with considerable neonatal and maternal morbidity.
Factors that predict macrosomia are poorly understood. The increased rate of macrosomia in …
Factors that predict macrosomia are poorly understood. The increased rate of macrosomia in …
[PDF][PDF] The diagnosis and management of monogenic diabetes in children and adolescents.
Monogenic diabetes results from one or more defects in a single gene. The disease may be
inherited within families as a dominant, recessive, or non-Mendelian trait or may present as …
inherited within families as a dominant, recessive, or non-Mendelian trait or may present as …