✦ LIBER ✦

Partial and whole gene deletion mutations of theGCKandHNF1Agenes in maturity-onset diabetes of the young

✍ Scribed by S. Ellard; K. Thomas; E. L. Edghill; M. Owens; L. Ambye; J. Cropper; J. Little; M. Strachan; A. Stride; B. Ersoy; H. Eiberg; O. Pedersen; M. H. Shepherd; T. Hansen; L. W. Harries; A. T. Hattersley

Publisher: Springer
Year: 2007
Tongue: English
Weight: 211 KB
Volume: 50
Category: Article
ISSN: 0012-186X
DOI: 10.1007/s00125-007-0798-6

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Hepatocyte nuclear factor 1 alpha (HNF-1

Hepatocyte nuclear factor 1 alpha (HNF-1α) mutations in maturity-onset diabetes of the young

✍ Sian Ellard 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 260 KB 👁 1 views

GCK and HNF1A mutations in Canadian fami

GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY)

✍ Henian Cao; Sanam Shorey; John Robinson; Daniel L. Metzger; Laura Stewart; Eliza 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 2 views

Maturity onset diabetes of the young (MODY) is a genetically heterogeneous form of type 2 diabetes that is characterized by autosomal dominant inheritance, onset in early adulthood and a primary defect in insulin secretion. Mutations in at least six genes have been shown to underlie MODY, including

Glucokinase (GCK) mutations in hyper- an

Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy

✍ Anna L. Gloyn 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB 👁 2 views

## Communicated by Mark H. Paalman 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 pancreatic beta-cell sensor. Given its central role in the regulation of insulin release, it is understandab

Identification of eight novel glucokinas

Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young

✍ Vilma Mantovani; Silvana Salardi; Vincenzo Cerreta; Daniela Bastia; Marinella Ce 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 2 views

## Maturity -onset diabetes of the young (MODY) is a clinically heterogeneous group of disorders characterized by early onset non-insulin-dependent diabetes mellitus, autosomal dominant inheritance, and primary defect in the function of the beta cells of the pancreas. Mutations in the glucokinase

Linkage analysis of the human insulin re

Linkage analysis of the human insulin receptor gene and maturity onset diabetes of the young

✍ S. C. Elbein; I. Borecki; L. Corsetti; S. S. Fajans; A. T. Hansen; J. Nerup; M. 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 715 KB

Update on mutations in glucokinase (GCK)

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

✍ Kara K. Osbak; Kevin Colclough; Cecile Saint-Martin; Nicola L. Beer; Christine B 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 280 KB 👁 2 views

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 beta-cells. Given its central role in the regulation of insulin release it is understandable that mutations in the g