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Titolo:
MODY in Iceland is associated with mutations in HNF-1 alpha and a novel mutation in NeuroD1
Autore:
Kristinsson, SY; Thorolfsdottir, ET; Talseth, B; Steingrimsson, E; Thorsson, AV; Helgason, T; Hreidarsson, AB; Arngrimsson, R;
Indirizzi:
Univ Iceland, Fac Med, Unit Med Genet, IS-101 Reykjavik, Iceland Univ Iceland Reykjavik Iceland IS-101 d Genet, IS-101 Reykjavik, Iceland Iceland Genom Corp, Reykjavik, Iceland Iceland Genom Corp Reykjavik Iceland and Genom Corp, Reykjavik, Iceland Univ Iceland, Fac Med, Dept Biochem & Mol Biol, IS-101 Reykjavik, Iceland Univ Iceland Reykjavik Iceland IS-101 ol Biol, IS-101 Reykjavik, Iceland Univ Hosp, Landspitali, Dept Paediat, Reykjavik, Iceland Univ Hosp Reykjavik Iceland ndspitali, Dept Paediat, Reykjavik, Iceland Univ Hosp, Landspitali, Diabet Clin, Reykjavik, Iceland Univ Hosp Reykjavik Iceland andspitali, Diabet Clin, Reykjavik, Iceland
Titolo Testata:
DIABETOLOGIA
fascicolo: 11, volume: 44, anno: 2001,
pagine: 2098 - 2103
SICI:
0012-186X(200111)44:11<2098:MIIIAW>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
NUCLEAR FACTOR-1-ALPHA GENE; DIABETES-MELLITUS; TRANSCRIPTION FACTORS; YOUNG MODY; ONSET; SUSCEPTIBILITY; BETA2/NEUROD1; JAPANESE; LINKAGE; HOTSPOT;
Keywords:
MODY; genetics; mutation; NeuroD1; HNF-1 alpha; MODY6; diabetes;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Arngrimsson, R Univ Iceland, Fac Med, Unit Med Genet, Med Sch Bldg,Vatnsmyrarvegur 16, IS-101 Reykjavik, Iceland Univ Iceland Med Sch Bldg,Vatnsmyrarvegur 16 Reykjavik Iceland IS-101
Citazione:
S.Y. Kristinsson et al., "MODY in Iceland is associated with mutations in HNF-1 alpha and a novel mutation in NeuroD1", DIABETOLOG, 44(11), 2001, pp. 2098-2103

Abstract

Aims/hypothesis. Five different types of maturity-onset diabetes of the young (MODY) have been identified until now but mutation screening suggests that more MODY genes exist. Mutations in genes encoding transcription factors essential for normal development and function of pancreatic beta cells has recently become important in studying the genetics of Type II (non-insulin-dependent) diabetes mellitus. Patients with MODY and their families in Iceland were screened for mutations in the transcription factor genes. Methods. Clinical and biochemical information on individuals with MODY wascollected and their family trees constructed. Linkage analysis was carriedout on chromosomal regions known to harbour genes previously shown to be associated with MODY. Mutations were identified by direct sequencing. Results. Three families were identified. Two of these showed linkage to chromosome 12 and carried mutations in exon 4 of the HNF-1a gene (290fsdelC and R272C). However, the third family showed no linkage to the previously described MODY genes but shared a novel mutation in the NeuroD1 gene on chromosome 2q32. This mutation, a glutamate to lysine substitution at codon 110.resides in the basic domain of the protein. Conclusion/interpretation. Mutations in MODY subjects have been identifiedin the Icelandic population. In addition this study identified the NeuroD1gene as the gene responsible for the sixth type of MODY.

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Documento generato il 29/03/20 alle ore 09:03:23