Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females (Articolo in rivista) (literal)

Anno

• 2001-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1007/s001090000155 (literal)

Alternative label

• Group 1: 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, D'Urso M, D'Esposito M, Group 2: MacDonald F, Kerr A, Dhanjal S, Hultén M. (2001)
  Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
  in Journal of molecular medicine (Berl., Print)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Group 1: 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, D'Urso M, D'Esposito M, Group 2: MacDonald F, Kerr A, Dhanjal S, Hultén M. (literal)

Pagina inizio

• 648 (literal)

Pagina fine

• 655 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 78 (literal)

Rivista

• Journal of molecular medicine (Rivista)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Birmingham Heartlands NHS Trust, Reg Genet Serv, Birmingham, W Midlands, England Univ Glasgow, Acad Ctr, Gartnavel Royal Hosp, Dept Psychol Med, Coventry G12, W Midlands, England Univ Siena, Policlin Le Scotte, I-53100 Siena, Italy UO, Serv Neuropsichiat Infantile, Viareggio, Italy Univ Ferrara, Sez Genet Med, Dipartimento Med Sperimentale & Diagnost, I-44100 Ferrara, Italy Univ Padua, Dipartimento Biol, I-35100 Padua, Italy CNR, Int Inst Genet & Biophys, I-80125 Naples, Italy (literal)

Titolo

• Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females (literal)

Abstract

• Rett syndrome is an X-linked dominant neurological disorder, which appears to 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. (literal)

Prodotto di

• Istituto di genetica e biofisica \"Adriano Buzzati Traverso\" (IGB) (Istituto)

Autore CNR

• MAURIZIO D'ESPOSITO (Persona)
• MARCELLA VACCA (Unità di personale interno)
• MICHELE D'URSO (Unità di personale interno)
• FLORIANA DELLA RAGIONE (Persona)

Incoming links:

Autore CNR di

• MICHELE D'URSO (Unità di personale interno)
• MAURIZIO D'ESPOSITO (Persona)
• FLORIANA DELLA RAGIONE (Persona)
• MARCELLA VACCA (Unità di personale interno)

Prodotto

• Istituto di genetica e biofisica \"Adriano Buzzati Traverso\" (IGB) (Istituto)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Journal of molecular medicine (Rivista)