Update on mutations in glucokinase (GCK), which cause maturity‐onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

KK Osbak, K Colclough, C Saint‐Martin… - Human …, 2009 - Wiley Online Library
Glucokinase is a key regulatory enzyme in the pancreatic beta‐cell. It plays a crucial role in
the regulation of insulin secretion and has been termed the glucose sensor in pancreatic …

Clinical implications of a molecular genetic classification of monogenic β-cell diabetes

R Murphy, S Ellard, AT Hattersley - Nature clinical practice …, 2008 - nature.com
Monogenic diabetes resulting from mutations that primarily reduce β-cell function accounts
for 1–2% of diabetes cases, although it is often misdiagnosed as either type 1 or type 2 …

[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 …

[HTML][HTML] ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents

SAW Greeley, M Polak, PR Njølstad, F Barbetti… - Pediatric …, 2022 - ncbi.nlm.nih.gov
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 …

[PDF][PDF] The pathogenesis and pathophysiology of type 1 and type 2 diabetes mellitus

JC Ozougwu, KC Obimba, CD Belonwu… - J Physiol …, 2013 - academia.edu
The aim of this paper is to review the information on type 1 and type 2 diabetes with
emphasis on its etiology, pathogenesis and pathophysiology via literature review. Diabetes …

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6. 2 and permanent neonatal diabetes

AL Gloyn, ER Pearson, JF Antcliff, P Proks… - … England Journal of …, 2004 - Mass Medical Soc
Background Patients with permanent neonatal diabetes usually present within the first three
months of life and require insulin treatment. In most, the cause is unknown. Because ATP …

Molecular physiology of mammalian glucokinase

PB Iynedjian - Cellular and Molecular Life Sciences, 2009 - Springer
The glucokinase (GCK) gene was one of the first candidate genes to be identified as a
human “diabetes gene". Subsequently, important advances were made in understanding the …

Assessing the potential of glucokinase activators in diabetes therapy

FM Matschinsky - Nature reviews Drug discovery, 2009 - nature.com
Glucokinase, a unique isoform of the hexokinase enzymes, which are known to
phosphorylate d-glucose and other hexoses, was identified during the past three to four …

[PDF][PDF] The diagnosis and management of monogenic diabetes in children and adolescents.

O Rubio‐Cabezas, AT Hattersley, PR Njølstad… - Pediatric diabetes, 2014 - bnsde.org
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 …

Mutations in PTF1A cause pancreatic and cerebellar agenesis

GS Sellick, KT Barker, I Stolte-Dijkstra, C Fleischmann… - Nature …, 2004 - nature.com
Individuals with permanent neonatal diabetes mellitus usually present within the first three
months of life and require insulin treatment,. We recently identified a locus on chromosome …