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Titolo:
Molecular genetics of Rett syndrome
Autore:
Shastry, BS;
Indirizzi:
Oakland Univ, Dept Biol Sci, Rochester, MI 48309 USA Oakland Univ Rochester MI USA 48309 ept Biol Sci, Rochester, MI 48309 USA
Titolo Testata:
NEUROCHEMISTRY INTERNATIONAL
fascicolo: 6, volume: 38, anno: 2001,
pagine: 503 - 508
SICI:
0197-0186(200105)38:6<503:MGORS>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
X-CHROMOSOME INACTIVATION; BINDING-PROTEIN MECP2; TRANSCRIPTIONAL REPRESSOR; LINKED INHERITANCE; METHYLATED DNA; EXCLUSION MAP; LOCALIZATION; GENES; ABNORMALITIES; TRANSLOCATION;
Keywords:
Rett syndrome; methyl-CpG-binding protein; genetic disorders;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
59
Recensione:
Indirizzi per estratti:
Indirizzo: Shastry, BS Oakland Univ, Dept Biol Sci, Rochester, MI 48309 USA Oakland Univ Rochester MI USA 48309 , Rochester, MI 48309 USA
Citazione:
B.S. Shastry, "Molecular genetics of Rett syndrome", NEUROCHEM I, 38(6), 2001, pp. 503-508

Abstract

Rett syndrome is a neurodevelopmental disorder affecting almost exclusively females. It affects approximately one in 15 000 females and is characterized by a loss of purposeful hand use, autism. ataxia and seizure. The disorder is usually sporadic, but rare familial cases have also been reported. Recently it has been shown that familial cases are an X-linked dominant disorder and the disease locus maps to Xq28. A candidate gene called methyl-CpG-binding protein 2 was identified from the Xq28 region and was shown to contain mutations in about 77% of Rett syndrome patients. Since the encoded protein was previously shown to be a global transcriptional repressor, undesired expression of yet unidentified genes that are normally repressed is considered to be pathogenic in Rett syndrome. (C) 2001 Elsevier Science Ltd. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/01/20 alle ore 15:44:11