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Titolo:
MITOCHONDRIAL RIBOSOMAL-RNA MUTATION ASSOCIATED WITH BOTH ANTIBIOTIC-INDUCED AND NON-SYNDROMIC DEAFNESS
Autore:
PREZANT TR; AGAPIAN JV; BOHLMAN MC; BU XD; OZTAS S; QIU WQ; ARNOS KS; CORTOPASSI GA; JABER L; ROTTER JI; SHOHAT M; FISCHELGHODSIAN N;
Indirizzi:
CEDARS SINAI MED CTR,CTR MED GENET BIRTH DEFECTS,STEVEN SPIELBERG PEDIAT RES CTR LOS ANGELES CA 90048 CEDARS SINAI MED CTR,CTR MED GENET BIRTH DEFECTS,STEVEN SPIELBERG PEDIAT RES CTR LOS ANGELES CA 90048 UCLA,SCH MED LOS ANGELES CA 90048 TIEDAO MED COLL,DEPT MED GENET SHANGHAI PEOPLES R CHINA GALLAUDET UNIV,GALLAUDET RES INST,CTR GENET SERV WASHINGTON DC 20002 TEL AVIV UNIV,SCH MED,BASIL & GERALD FELSENSTEIN MED RES CTR,DEPT PEDIAT & MED GENET IL-49100 PETAH TIQWA ISRAEL UNIV SO CALIF,INST TOXICOL LOS ANGELES CA 90033
Titolo Testata:
Nature genetics
fascicolo: 3, volume: 4, anno: 1993,
pagine: 289 - 294
SICI:
1061-4036(1993)4:3<289:MRMAWB>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEREDITARY OPTIC NEUROPATHY; COMPLETE NUCLEOTIDE-SEQUENCE; ESCHERICHIA-COLI; OLIGONUCLEOTIDE PROBES; STREPTOMYCIN RESISTANT; POINT MUTATIONS; DNA; GENE; GENOME; IDENTIFICATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
49
Recensione:
Indirizzi per estratti:
Citazione:
T.R. Prezant et al., "MITOCHONDRIAL RIBOSOMAL-RNA MUTATION ASSOCIATED WITH BOTH ANTIBIOTIC-INDUCED AND NON-SYNDROMIC DEAFNESS", Nature genetics, 4(3), 1993, pp. 289-294

Abstract

Maternally transmitted non-syndromic deafness was described recently both in pedigrees with susceptibility to aminoglycoside ototoxicity and in a large Arab-Israeli pedigree. Because of the known action of aminoglycosides on bacterial ribosomes, we analysed the sequence of the mitochondrial rRNA genes of three unrelated patients with familial aminoglycoside-induced deafness. We also sequenced the complete mitochondrial genome of the Arab-Israeli pedigree. All four families shared a nucleotide 1555 A to G substitution in the 12S rRNA gene, a site implicated in aminoglycoside activity. Our study offers the first descriptionof a mitochondrial rRNA mutation leading to disease, the first cases of non-syndromic deafness caused by a mitochondrial DNA mutation and the first molecular genetic study of antibiotic-induced ototoxicity.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/09/20 alle ore 10:50:05