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Titolo:
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 arecaused by allelic mutations of the novel cadherin-like gene CDH23
Autore:
Bork, JM; Peters, LM; Riazuddin, S; Bernstein, SL; Ahmed, ZM; Ness, SL; Polomeno, R; Ramesh, A; Schloss, M; Srisailpathy, CRS; Wayne, S; Bellman, S; Desmukh, D; Ahmed, Z; Khan, SN; Kaloustian, VMD; Li, XC; Lalwani, A; Riazuddin, S; Bitner-Glindzicz, M; Nance, WE; Liu, XZ; Wistow, G; Smith, RJH; Griffith, AJ; Wilcox, ER; Friedman, TB; Morell, RJ;
Indirizzi:
Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD 20850 USA Natl Inst Deafness & Other Commun Disorders Rockville MD USA 20850 50 USA Natl Inst Deafness & Other Commun Disorders, Neurootol Branch, NIH, Rockville, MD 20850 USA Natl Inst Deafness & Other Commun Disorders Rockville MDUSA 20850 50 USA Punjab Univ, Natl Ctr Excellence Mol Biol, Lahore, Pakistan Punjab Univ Lahore Pakistan l Ctr Excellence Mol Biol, Lahore, Pakistan Univ Maryland, Sch Med, Dept Ophthalmol, Baltimore, MD 21201 USA Univ Maryland Baltimore MD USA 21201 Ophthalmol, Baltimore, MD 21201 USA Mt Sinai Med Ctr, Dept Human Genet, New York, NY 10029 USA Mt Sinai Med Ctr New York NY USA 10029 uman Genet, New York, NY 10029 USA Mt Sinai Med Ctr, Dept Pediat, New York, NY 10029 USA Mt Sinai Med Ctr New York NY USA 10029 ept Pediat, New York, NY 10029 USA McGill Univ, Dept Ophthalmol, Montreal, PQ H3A 2T5, Canada McGill Univ Montreal PQ Canada H3A 2T5 lmol, Montreal, PQ H3A 2T5, Canada McGill Univ, Dept Otolaryngol, Montreal, PQ H3A 2T5, Canada McGill Univ Montreal PQ Canada H3A 2T5 ngol, Montreal, PQ H3A 2T5, Canada McGill Univ, Dept Pediat & Human Genet, Montreal, PQ H3A 2T5, Canada McGill Univ Montreal PQ Canada H3A 2T5 enet, Montreal, PQ H3A 2T5, Canada Univ Iowa, Dept Otolaryngol, Iowa City, IA USA Univ Iowa Iowa City IA USA niv Iowa, Dept Otolaryngol, Iowa City, IA USA Univ Madras, Dept Genet, Madras, Tamil Nadu, India Univ Madras Madras Tamil Nadu India ept Genet, Madras, Tamil Nadu, India Great Ormond St Hosp Children NHS Trust, Dept Audiol Med, London WC1N 3JH,England Great Ormond St Hosp Children NHS Trust London England WC1N 3JH ,England Inst Child Hlth, Unit Clin & Mol Genet, London, England Inst Child Hlth London England , Unit Clin & Mol Genet, London, England Rotary Deaf Sch, Ichalkaranji Tilawani, Maharashtra, India Rotary Deaf Sch Ichalkaranji Tilawani Maharashtra India harashtra, India Epstein Labs, Lab Mol Otol, San Francisco, CA USA Epstein Labs San Francisco CA USA s, Lab Mol Otol, San Francisco, CA USA Virginia Commonwealth Univ, Med Coll Virginia, Dept Human Genet, Richmond,VA 23298 USA Virginia Commonwealth Univ Richmond VA USA 23298 t, Richmond,VA 23298 USA NEI, NIH, Bethesda, MD 20892 USA NEI Bethesda MD USA 20892NEI, NIH, Bethesda, MD 20892 USA
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 1, volume: 68, anno: 2001,
pagine: 26 - 37
SICI:
0002-9297(200101)68:1<26:US1ANA>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
SYNDROME TYPE-I; MYOSIN-VIIA GENE; HEARING IMPAIRMENT; LINKAGE ANALYSIS; MAPS; CHROMOSOME-10; LOCALIZATION; ENCODES; LOCUS; FAT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
37
Recensione:
Indirizzi per estratti:
Indirizzo: Morell, RJ Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, 5 Res Court, Rockville, MD 20850 USA Natl Inst Deafness & Other Commun Disorders 5 Res Court Rockville MD USA 20850
Citazione:
J.M. Bork et al., "Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 arecaused by allelic mutations of the novel cadherin-like gene CDH23", AM J HU GEN, 68(1), 2001, pp. 26-37

Abstract

Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysfunction (USH1D)were previously mapped to overlapping regions of chromosome 10q21-q22. Seven highly consanguineous families segregating nonsyndromic autosomal recessive dearness were analyzed to refine the DFNB12 locus. In a single family, a critical region was defined between D10S1694 and D1OS173 7, similar to0.55 cM apart. Eighteen candidate genes in the region were sequenced. Mutations in a novel cadherin-like gene, CDH23, were found both in families with DFNB12 and in families with USH1D. Six missense mutations were found in five families with DFNB12, and two nonsense and two frameshift mutations were found in four families with USH1D. A northern blot analysis of CDH23 showed a9.5-kb transcript expressed primarily in the retina. CDH23 is also expressed in the cochlea, as is demonstrated by polymerase chain reaction amplification from cochlear cDNA.

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Documento generato il 04/12/20 alle ore 22:21:40