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Titolo:
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen
Autore:
Tyson, J; Tranebjaerg, L; McEntagart, M; Larsen, LA; Christiansen, M; Whiteford, ML; Bathen, J; Aslaksen, B; Sorland, SJ; Lund, O; Pembrey, ME; Malcolm, S; Bitner-Glindzicz, M;
Indirizzi:
Inst Child Hlth, Clin & Mol Genet Unit, London WC1N 1EH, England Inst Child Hlth London England WC1N 1EH t Unit, London WC1N 1EH, England Univ Tromso Hosp, Dept Med Genet, N-9012 Tromso, Norway Univ Tromso Hosp Tromso Norway N-9012 t Med Genet, N-9012 Tromso, Norway Statens Serum Inst, Dept Clin Biochem, DK-2300 Copenhagen, Denmark StatensSerum Inst Copenhagen Denmark DK-2300 K-2300 Copenhagen, Denmark Duncan Guthrie Inst Med Genet, Yorkhill NHS Trust, Glasgow G3 8SJ, Lanark,Scotland Duncan Guthrie Inst Med Genet Glasgow Lanark Scotland G3 8SJ ark,Scotland Reg Hosp Trondheim, Dept Cardiol, Trondheim, Norway Reg Hosp Trondheim Trondheim Norway im, Dept Cardiol, Trondheim, Norway Cent Hosp, Dept Internal Med, Arendal, Norway Cent Hosp Arendal NorwayCent Hosp, Dept Internal Med, Arendal, Norway Univ Hosp Oslo, Dept Paediat Cardiol, Oslo, Norway Univ Hosp Oslo Oslo Norway osp Oslo, Dept Paediat Cardiol, Oslo, Norway Hosp N Namdal, Dept Otorhinolaryngol, N Namdal, Norway Hosp N Namdal N Namdal Norway , Dept Otorhinolaryngol, N Namdal, Norway
Titolo Testata:
HUMAN GENETICS
fascicolo: 5, volume: 107, anno: 2000,
pagine: 499 - 503
SICI:
0340-6717(200011)107:5<499:MSITCS>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
LONG-QT SYNDROME; INHERITED CARDIAC-ARRHYTHMIAS; K+ CHANNEL MUTATIONS; POTASSIUM CHANNEL; ROMANO-WARD; KVLQT1 GENE; DOMINANT; MECHANISMS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Bitner-Glindzicz, M Inst Child Hlth, Clin & Mol Genet Unit, 30 Guilford St, London WC1N 1EH, England Inst Child Hlth 30 Guilford St London England WC1N 1EH
Citazione:
J. Tyson et al., "Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen", HUM GENET, 107(5), 2000, pp. 499-503

Abstract

Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterised by profound congenital sensorineural deafness and prolongation of the QT interval on the electrocardiogram, representing abnormal ventricular repolarisation. In a study of ten British and Norwegian families with JLNS, we have identified all of the mutations in the KCNQ1 gene, including two that are novel. Of the nine mutations identified in this group of 10 families, five are nonsense or frameshift mutations. Truncation of the protein proximal to the recently identified C-terminal assembly domain is expected to preclude assembly of KCNQ1 monomers into tetramers and explains the recessive inheritance of JLNS. However, study of a frameshift mutation, with a dominant effect phenotypically, suggests the presence of another assembly domain nearer to the N-terminus.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 02:03:05