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Titolo:
Monogenic causes of X-linked mental retardation
Autore:
Chelly, J; Mandel, JL;
Indirizzi:
CHU Cochin, INSERM, CNRS, Inst Cochin Genet Mol, F-75014 Paris, France CHUCochin Paris France F-75014 Cochin Genet Mol, F-75014 Paris, France Univ Strasbourg 1, Ctr Univ Strasbourg,INSERM, CNRS, Inst Genet & Biol Mol& Cellulaire, Illkirch Graffenstaden, France Univ Strasbourg 1 Illkirch Graffenstaden France h Graffenstaden, France
Titolo Testata:
NATURE REVIEWS GENETICS
fascicolo: 9, volume: 2, anno: 2001,
pagine: 669 - 680
SICI:
1471-0056(200109)2:9<669:MCOXMR>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRANSCRIPTIONAL REGULATOR ATRX; NUCLEOTIDE EXCHANGE FACTOR; CPG-BINDING PROTEIN-2; COFFIN-LOWRY-SYNDROME; RETT-SYNDROME; SYNDROME GENE; MUTATIONAL ANALYSIS; DNA METHYLATION; RHO GTPASES; FMR1 GENE;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Agriculture,Biology & Environmental Sciences
Life Sciences
Citazioni:
105
Recensione:
Indirizzi per estratti:
Indirizzo: Chelly, J CHU Cochin, INSERM, CNRS, Inst Cochin Genet Mol, F-75014 Paris, France CHU Cochin Paris France F-75014 net Mol, F-75014 Paris, France
Citazione:
J. Chelly e J.L. Mandel, "Monogenic causes of X-linked mental retardation", NAT REV GEN, 2(9), 2001, pp. 669-680

Abstract

Mutations in X-linked genes are likely to account for the observation thatmore males than females are affected by mental retardation. Causative mutations have recently been identified in both syndromic X-linked mental retardation (XLMR) and in the genetically heterogeneous 'nonspecific' forms of XLMR, for which cognitive impairment is the only defining clinical feature. Proteins that function in chromatin remodelling are affected in three important syndromic forms of XLMR. In nonspecific forms of the disorder, defectshave been found in signal-transduction pathways that are believed to function during neuronal maturation. These findings provide important insights into the molecular and cellular defects that underlie mental retardation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/01/20 alle ore 19:00:06