Literature DB >> 15084216

Andersen syndrome: the newest variant of the hereditary-familial long QT syndrome.

Andrés Ricardo Pérez Riera1, Celso Ferreira, Sérgio J Dubner, Edgardo Schapachnik.   

Abstract

Andersen's Syndrome is a rare disease, hereditary with autosomal dominant transmission, of the ion channels of the sarcolemmal membranes of the cardiac and skeletal muscles (channelopathy), which affects chromosome 17 of the KCNJ2 gene, responsible for encoding the outward potassium delayed rectifier current KIR2.1, resulting in a loss or suppression of the function of this channel.

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15084216      PMCID： PMC6932481          DOI： 10.1111/j.1542-474X.2004.92552.x

Source DB:  PubMed          Journal:  Ann Noninvasive Electrocardiol        ISSN： 1082-720X            Impact factor:   1.468


  12 in total

Review 1.  Channelopathies: Kir2.1 mutations jeopardize many cell functions.

Authors:  H J Jongsma; R Wilders
Journal:  Curr Biol       Date:  2001-09-18       Impact factor: 10.834

2.  Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome.

Authors:  Regina Preisig-Müller; Günter Schlichthörl; Tobias Goerge; Steffen Heinen; Andrea Brüggemann; Sindhu Rajan; Christian Derst; Rüdiger W Veh; Jürgen Daut
Journal:  Proc Natl Acad Sci U S A       Date:  2002-05-28       Impact factor: 11.205

3.  Andersen's syndrome: a distinct periodic paralysis.

Authors:  V Sansone; R C Griggs; G Meola; L J Ptácek; R Barohn; S Iannaccone; W Bryan; N Baker; S J Janas; W Scott; D Ririe; R Tawil
Journal:  Ann Neurol       Date:  1997-09       Impact factor: 10.422

4.  Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?

Authors:  E D Andersen; P A Krasilnikoff; H Overvad
Journal:  Acta Paediatr Scand       Date:  1971-09

Review 5.  [A case of potassium-sensitive periodic paralysis with cardiac dysrhythmia].

Authors:  K Nakamagoe; T Fujita; N Ohkoshi; H Mizusawa; S Shoji
Journal:  Rinsho Shinkeigaku       Date:  1997-03

6.  Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

Authors:  N M Plaster; R Tawil; M Tristani-Firouzi; S Canún; S Bendahhou; A Tsunoda; M R Donaldson; S T Iannaccone; E Brunt; R Barohn; J Clark; F Deymeer; A L George; F A Fish; A Hahn; A Nitu; C Ozdemir; P Serdaroglu; S H Subramony; G Wolfe; Y H Fu; L J Ptácek
Journal:  Cell       Date:  2001-05-18       Impact factor: 41.582

7.  The exercise test in Andersen syndrome.

Authors:  J S Katz; G I Wolfe; S Iannaccone; W W Bryan; R J Barohn
Journal:  Arch Neurol       Date:  1999-03

8.  Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia.

Authors:  Tomohiko Ai; Yuichiro Fujiwara; Keiko Tsuji; Hideo Otani; Shozo Nakano; Yoshihiro Kubo; Minoru Horie
Journal:  Circulation       Date:  2002-06-04       Impact factor: 29.690

9.  [Andersen syndrome, ventricular arrhythmias and channelopathy (a case report)].

Authors:  V Lucet; J-M Lupoglazoff; B Fontaine
Journal:  Arch Pediatr       Date:  2002-12       Impact factor: 1.180

10.  KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.

Authors:  Gregor Andelfinger; Andrew R Tapper; Richard C Welch; Carlos G Vanoye; Alfred L George; D Woodrow Benson
Journal:  Am J Hum Genet       Date:  2002-07-29       Impact factor: 11.025
View more
  3 in total

Review 1.  Genetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a review.

Authors:  Bikash R Pattnaik; Matti P Asuma; Ryan Spott; De-Ann M Pillers
Journal:  Mol Genet Metab       Date:  2011-10-19       Impact factor: 4.797

Review 2.  Role of transmural dispersion of repolarization in the genesis of drug-induced torsades de pointes.

Authors:  Charles Antzelevitch
Journal:  Heart Rhythm       Date:  2005-11       Impact factor: 6.343

3.  Regulation of Kir2.1 channels by the Rho-GTPase, Rac1.

Authors:  Stephanie B Boyer; Paul A Slesinger; S V Penelope Jones
Journal:  J Cell Physiol       Date:  2009-02       Impact factor: 6.384
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.