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Titolo:
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
Autore:
Vacca, M; Filippini, F; Budillon, A; Rossi, V; Mercadante, G; Manzati, E; Gualandi, F; Bigoni, S; Trabanelli, C; Pini, G; Calzolari, E; Ferlini, A; Meloni, I; Hayek, G; Zappella, M; Renieri, A; DUrso, M; DEsposito, M; MacDonald, F; Kerr, A; Dhanjal, S; Hulten, M;
Indirizzi:
Birmingham Heartlands NHS Trust, Reg Genet Serv, Birmingham, W Midlands, England Birmingham Heartlands NHS Trust Birmingham W Midlands England s, England Univ Glasgow, Acad Ctr, Gartnavel Royal Hosp, Dept Psychol Med, Coventry G12, W Midlands, England Univ Glasgow Coventry W Midlands England G12 try G12, W Midlands, England Univ Siena, Policlin Le Scotte, I-53100 Siena, Italy Univ Siena Siena Italy I-53100 Policlin Le Scotte, I-53100 Siena, Italy UO, Serv Neuropsichiat Infantile, Viareggio, Italy UO Viareggio ItalyUO, Serv Neuropsichiat Infantile, Viareggio, Italy Univ Ferrara, Sez Genet Med, Dipartimento Med Sperimentale & Diagnost, I-44100 Ferrara, Italy Univ Ferrara Ferrara Italy I-44100 le & Diagnost, I-44100 Ferrara, Italy Univ Padua, Dipartimento Biol, I-35100 Padua, Italy Univ Padua Padua Italy I-35100 , Dipartimento Biol, I-35100 Padua, Italy CNR, Int Inst Genet & Biophys, I-80125 Naples, Italy CNR Naples Italy I-80125 Int Inst Genet & Biophys, I-80125 Naples, Italy
Titolo Testata:
JOURNAL OF MOLECULAR MEDICINE-JMM
fascicolo: 11, volume: 78, anno: 2001,
pagine: 648 -
SICI:
0946-2716(2001)78:11<648:MAOTMG>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
CPG-BINDING PROTEIN; METHYLATED DNA; HISTONE DEACETYLASE; LOCALIZATION;
Keywords:
bioinformatic analysis; MECP2 mutation; Rett syndrome; review; X chromosome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Hulten, M Birmingham Heartlands NHS Trust, Reg Genet Serv, Birmingham, W Midlands, England Birmingham Heartlands NHS Trust Birmingham W Midlands England
Citazione:
M. Vacca et al., "Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females", J MOL MED-J, 78(11), 2001, pp. 648

Abstract

Rett syndrome is an X-linked dominant neurological disorder, which appearsto be the commonest genetic cause of profound combined intellectual and physical disability in Caucasian females. Recently, this syn drome has been associated with mutations of the MECP2 gene, a transcriptional repressor of still unknown target genes. Here we report a detailed mutational analysis of 62 patients from UK and Italian archives. representing the first comparative study among different populations and one of the largest number of cases so far analyzed. We review the literature on MECP2. mutations in Rett syndrome. This analysis has permitted us to produce a map of the recurrent mutations identified in this and previous studies. Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data. leads us to postulate the existence of a new functional domain in the MeCP2 protein, which among brain-specific regulatory factors.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/20 alle ore 08:00:48