- ►whiterose.ac.uk [PDF] AL Gloyn, ER Pearson, JF Antcliff, P Proks, … - The New England …, 2004 - nejm.highwire.org Results Six novel, heterozygous missense mutations were identified in 10 of the 29 patients.
In two patients the diabetes was familial, and in eight it arose from a spontaneous mutation. Their
neonatal diabetes was characterized by ketoacidosis or marked hyperglycemia and was ... Cited by 353 - Related articles - BL Direct - All 13 versions
JV Sagen, H Ræder, E Hathout, N Shehadeh, K … - Diabetes, 2004 - Am Diabetes Assoc Permanent neonatal diabetes (PND) can be caused by mutations in the transcription factors
insulin promoter factor (IPF)-1, eukaryotic translation initiation factor-2α kinase 3 (EIF2AK3), and
forkhead box-P3 and in key components of insulin secretion: glucokinase (GCK) and the ... Cited by 175 - Related articles - BL Direct - All 5 versions
AL Gloyn - Human mutation, 2003 - interscience.wiley.com 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 understandable that mutations in the ... Cited by 121 - Related articles - BL Direct - All 6 versions
A Stride, AT Hattersley - Annals of Medicine, 2002 - informahealthcare.com Maturity-onset diabetes of the young (MODY) is a genetic subgroup of diabetes characterised
by an autosomal domi- nant inheritance and early onset, non-insulin dependent diabetes. This
results from a monogenic defect causing beta- cell dysfunction. The defining of five genes ... Cited by 113 - Related articles - BL Direct - All 7 versions
- ►bmj.com IK Temple, JPH Shield - British Medical Journal, 2002 - jmg.bmj.com ] ABSTRACT Transient neonatal diabetes (TND) is a rare but distinct type of diabetes.
Classically, neonates present with growth retardation and diabetes in the first week of life. Apparent
remission occurs by 3 months but there is a tendency for children to develop diabetes in ... Cited by 111 - Related articles - BL Direct - All 9 versions
M Vaxillaire, C Populaire, K Busiah, H Cavé, … - DIABETES-NEW …, 2004 - Am Diabetes Assoc Page 1. Brief Genetics Report Kir6.2 Mutations Are a Common Cause of Permanent
Neonatal Diabetes in a Large Cohort of French Patients Martine Vaxillaire, 1 Céline
Populaire, 1 Kanetee Busiah, 2 Héle`ne Cavé, 3 Anna L. Gloyn, 4 ... Cited by 102 - Related articles - BL Direct - All 4 versions
K Owen, AT Hattersley - Best Practice & Research Clinical Endocrinology & …, 2001 - Elsevier Maturity-onset diabetes of the young is a heterogeneous group of autosomal dominantly
inherited, young-onset β-cell disorders. At least two consecutive generations are affected with
a family member diagnosed before 25 years of age. Diabetes is caused either by ... Cited by 93 - Related articles - BL Direct - All 9 versions
- ►diabetesjournals.org AL Gloyn, K Noordam, MAAP Willemsen, S Ellard, … - Diabetes, 2003 - Am Diabetes Assoc Glucokinase (GCK) is a key regulatory enzyme in the pancreatic β-cell and catalyzes the
rate-limiting step for β-cell glucose metabolism. We report two novel GCK mutations (T65I and
W99R) that have arisen de novo in two families with familial hypoglycemia. Insulin levels, ... Cited by 78 - Related articles - BL Direct - All 5 versions
W Trust - Human mutation - interscience.wiley.com Permanent neonatal diabetes mellitus (PNDM) is a rare condition characterized by severe hyperglycemia
constantly requiring insulin treatment from its onset. Complete deficiency of glucokinase
(GCK) can cause PNDM; however, the genetic etiology is unknown in most PNDM ... Cited by 70 - Related articles - All 4 versions
