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Titolo:
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
Autore:
Plaster, NM; Tawil, R; Tristani-Firouzi, M; Canun, S; Bendahhou, S; Tsunoda, A; Donaldson, MR; Iannaccone, ST; Brunt, E; Barohn, R; Clark, J; Deymeer, F; George, AL; Fish, FA; Hahn, A; Nitu, A; Ozdemir, C; Serdaroglu, P; Subramony, SH; Wolfe, G; Fu, YH; Ptacek, LJ;
Indirizzi:
Univ Utah, Dept Human Genet, Salt Lake City, UT 84112 USA Univ Utah Salt Lake City UT USA 84112 Genet, Salt Lake City, UT 84112 USA Univ Utah, Howard Hughes Med Inst, Salt Lake City, UT 84112 USA Univ UtahSalt Lake City UT USA 84112 Inst, Salt Lake City, UT 84112 USA Univ Utah, Dept Neurol, Salt Lake City, UT 84112 USA Univ Utah Salt Lake City UT USA 84112 eurol, Salt Lake City, UT 84112 USA Univ Utah, Dept Neurobiol & Anat, Salt Lake City, UT 84112 USA Univ Utah Salt Lake City UT USA 84112 Anat, Salt Lake City, UT 84112 USA Univ Utah, Dept Pediat, Salt Lake City, UT 84112 USA Univ Utah Salt Lake City UT USA 84112 ediat, Salt Lake City, UT 84112 USA Univ Rochester, Sch Med, Rochester, NY 14642 USA Univ Rochester RochesterNY USA 14642 r, Sch Med, Rochester, NY 14642 USA Hosp Gen Dr Manuel Gea Gonzalez, Dept Genet, Mexico City 14000, DF, MexicoHosp Gen Dr Manuel Gea Gonzalez Mexico City DF Mexico 14000 0, DF, Mexico Texas Scottish Rite Hosp Children, Dept Neurol, Dallas, TX 75219 USA TexasScottish Rite Hosp Children Dallas TX USA 75219 allas, TX 75219 USA Acad Ziekenhuis Groningen, Neurol Klin, NL-9700 RB Groningen, Netherlands Acad Ziekenhuis Groningen Groningen Netherlands NL-9700 RB , Netherlands Univ Kansas, Med Ctr, Dept Neurol, Kansas City, KS 66160 USA Univ Kansas Kansas City KS USA 66160 pt Neurol, Kansas City, KS 66160 USA Childrens Hosp, Med Ctr, Akron, OH 44308 USA Childrens Hosp Akron OH USA 44308 rens Hosp, Med Ctr, Akron, OH 44308 USA Univ Istanbul, Tip Fak, Noroloji Anabilim, TR-34390 Istanbul, Turkey Univ Istanbul Istanbul Turkey TR-34390 abilim, TR-34390 Istanbul, Turkey Vanderbilt Univ, Med Ctr, Nashville, TN 37232 USA Vanderbilt Univ Nashville TN USA 37232 , Med Ctr, Nashville, TN 37232 USA London Hlth Sci Ctr, Dept Clin & Neurol Sci, London, ON N6A 4GA, Canada London Hlth Sci Ctr London ON Canada N6A 4GA , London, ON N6A 4GA, Canada Indiana Univ, Med Ctr, Dept Neurol, Indianapolis, IN 46202 USA Indiana Univ Indianapolis IN USA 46202 Neurol, Indianapolis, IN 46202 USA Univ Texas, SW Med Ctr, Dallas, TX 75390 USA Univ Texas Dallas TX USA 75390 iv Texas, SW Med Ctr, Dallas, TX 75390 USA
Titolo Testata:
CELL
fascicolo: 4, volume: 105, anno: 2001,
pagine: 511 - 519
SICI:
0092-8674(20010518)105:4<511:MIKCTD>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
HYPOKALEMIC PERIODIC PARALYSIS; RECTIFIER POTASSIUM CHANNEL; LONG QT SYNDROME; FUNCTIONAL EXPRESSION; K+ CHANNEL; CARDIAC-ARRHYTHMIA; MOLECULAR-CLONING; GENE; INACTIVATION; SUBUNITS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
48
Recensione:
Indirizzi per estratti:
Indirizzo: Ptacek, LJ Univ Utah, Dept Human Genet, Salt Lake City, UT 84112 USA Univ Utah Salt Lake City UT USA 84112 Lake City, UT 84112 USA
Citazione:
N.M. Plaster et al., "Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome", CELL, 105(4), 2001, pp. 511-519

Abstract

Andersen's syndrome is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. We have mapped an Andersen's locus to chromosome 17q23 (maximum LOD = 3.23 at theta = 0) near the inward rectifying potassium channel gene KCNJ2. A missense mutation in KCNJ2 (encoding D71V) was identified in the linked family. Eight additional mutations were identified in unrelated patients. Expression of two of these mutations in Xenopus oocytes revealed loss of function and a dominant negative effect in Kir2.1 current as assayed by voltage-clamp. We conclude that mutations in Kir2.1 cause Andersen's syndrome. These findings suggest that Kir2.1 plays an important role in developmental signaling in addition to its previously recognized function in controlling cell excitability in skeletal muscle and heart.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 11:56:58