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Titolo:
Mutation screening of the Wolfram syndrome gene in psychiatric patients
Autore:
Torres, R; Leroy, E; Hu, X; Katrivanou, A; Gourzis, P; Papachatzopoulou, A; Athanassiadou, A; Beratis, S; Collier, D; Polymeropoulos, MH;
Indirizzi:
Novartis Pharmaceut Corp, Pharmacogenet, Gaithersburg, MD 20878 USA Novartis Pharmaceut Corp Gaithersburg MD USA 20878 hersburg, MD 20878 USA Inst Psychiat, Mol Genet Sect, London, England Inst Psychiat London England Psychiat, Mol Genet Sect, London, England Univ Patras, Fac Med, Univ Hosp, Dept Psychiat, GR-26110 Patras, Greece Univ Patras Patras Greece GR-26110 ept Psychiat, GR-26110 Patras, Greece Univ Patras, Fac Med, Univ Hosp, Dept Biol, GR-26110 Patras, Greece Univ Patras Patras Greece GR-26110 p, Dept Biol, GR-26110 Patras, Greece Guys Kings & St Thomas Sch Med, Div Med & Mol Genet, London, England Guys Kings & St Thomas Sch Med London England ol Genet, London, England
Titolo Testata:
MOLECULAR PSYCHIATRY
fascicolo: 1, volume: 6, anno: 2001,
pagine: 39 - 43
SICI:
1359-4184(200101)6:1<39:MSOTWS>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
DIABETES-MELLITUS; OPTIC ATROPHY; TRANSMEMBRANE PROTEIN; INSIPIDUS; INTERVIEW; RATIONALE; DEAFNESS;
Keywords:
Wolfram syndrome gene; psychiatric diseases; polymorphism; mutation; variation; schizophrenia; schizoaffective disorder; bipolar disorder; major depression;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Polymeropoulos, MH Novartis Pharmaceut Corp, Pharmacogenet, 9 W Watkins Mill Rd, Gaithersburg, MD 20878 USA Novartis Pharmaceut Corp 9 W Watkins MillRd Gaithersburg MD USA 20878
Citazione:
R. Torres et al., "Mutation screening of the Wolfram syndrome gene in psychiatric patients", MOL PSYCHI, 6(1), 2001, pp. 39-43

Abstract

Wolfram syndrome, a rare autosomal recessive neurodegenerative disorder, was originally described as a combination of familial juvenile-onset diabetes mellitus and optic atrophy. It was later demonstrated that Wolfram syndrome patients were highly prone to psychiatric disorders. Mutations in exon 8of the Wolfram syndrome gene account for 88% of the patients with Wolfram syndrome. To examine whether the gene responsible for causing Wolfram syndrome is involved in psychiatric disorders, we screened exon 8 of the Wolframsyndrome gene for mutations in 119 patients with schizophrenia, one patient with schizoaffective disorder, 12 patients with bipolar disorder and 15 patients with major depression, using sequence analysis. In Wolfram syndromepatients, this gene has been shown to have primarily nonsense or frameshift mutations, which would result in a premature truncation of the protein. None of the psychiatric patients screened in this study carried these types of mutations. We identified, however, 24 new variations whose significance remains to be determined.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/01/20 alle ore 21:25:11