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Items: 1 to 20 of 146

1.

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

Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptácek LJ.

Cell. 2001 May 18;105(4):511-9.

2.

In vivo and in vitro functional characterization of Andersen's syndrome mutations.

Bendahhou S, Fournier E, Sternberg D, Bassez G, Furby A, Sereni C, Donaldson MR, Larroque MM, Fontaine B, Barhanin J.

J Physiol. 2005 Jun 15;565(Pt 3):731-41. Epub 2005 Apr 14.

3.

Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia.

Ai T, Fujiwara Y, Tsuji K, Otani H, Nakano S, Kubo Y, Horie M.

Circulation. 2002 Jun 4;105(22):2592-4.

4.

Loss-of-function mutations of the K(+) channel gene KCNJ2 constitute a rare cause of long QT syndrome.

Fodstad H, Swan H, Auberson M, Gautschi I, Loffing J, Schild L, Kontula K.

J Mol Cell Cardiol. 2004 Aug;37(2):593-602.

PMID:
15276028
5.

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

Preisig-Müller R, Schlichthörl G, Goerge T, Heinen S, Brüggemann A, Rajan S, Derst C, Veh RW, Daut J.

Proc Natl Acad Sci U S A. 2002 May 28;99(11):7774-9.

6.

Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes.

Sacconi S, Simkin D, Arrighi N, Chapon F, Larroque MM, Vicart S, Sternberg D, Fontaine B, Barhanin J, Desnuelle C, Bendahhou S.

Am J Physiol Cell Physiol. 2009 Oct;297(4):C876-85. doi: 10.1152/ajpcell.00519.2008. Epub 2009 Jul 1.

7.

Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.

Bendahhou S, Fournier E, Gallet S, Ménard D, Larroque MM, Barhanin J.

Hum Mol Genet. 2007 Apr 15;16(8):900-6. Epub 2007 Feb 26.

8.

Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome.

Hosaka Y, Hanawa H, Washizuka T, Chinushi M, Yamashita F, Yoshida T, Komura S, Watanabe H, Aizawa Y.

J Mol Cell Cardiol. 2003 Apr;35(4):409-15.

PMID:
12689820
9.

Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.

Haruna Y, Kobori A, Makiyama T, Yoshida H, Akao M, Doi T, Tsuji K, Ono S, Nishio Y, Shimizu W, Inoue T, Murakami T, Tsuboi N, Yamanouchi H, Ushinohama H, Nakamura Y, Yoshinaga M, Horigome H, Aizawa Y, Kita T, Horie M.

Hum Mutat. 2007 Feb;28(2):208.

PMID:
17221872
10.

Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion.

Lange PS, Er F, Gassanov N, Hoppe UC.

Cardiovasc Res. 2003 Aug 1;59(2):321-7.

11.

An expanding view for the molecular basis of familial periodic paralysis.

Cannon SC.

Neuromuscul Disord. 2002 Aug;12(6):533-43. Review.

PMID:
12117476
12.

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

Andelfinger G, Tapper AR, Welch RC, Vanoye CG, George AL Jr, Benson DW.

Am J Hum Genet. 2002 Sep;71(3):663-8. Epub 2002 Jul 29.

13.

A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation.

Xia M, Jin Q, Bendahhou S, He Y, Larroque MM, Chen Y, Zhou Q, Yang Y, Liu Y, Liu B, Zhu Q, Zhou Y, Lin J, Liang B, Li L, Dong X, Pan Z, Wang R, Wan H, Qiu W, Xu W, Eurlings P, Barhanin J, Chen Y.

Biochem Biophys Res Commun. 2005 Jul 15;332(4):1012-9.

PMID:
15922306
14.

Channelopathies: Kir2.1 mutations jeopardize many cell functions.

Jongsma HJ, Wilders R.

Curr Biol. 2001 Sep 18;11(18):R747-50. Review.

15.

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

Lucet V, Lupoglazoff JM, Fontaine B.

Arch Pediatr. 2002 Dec;9(12):1256-9. French.

PMID:
12536108
16.

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, Cobo AM, Poza JJ, Behr E, Wagstaff J, Szepetowski P, Pereira S, Mozaffar T, Escolar DM, Fu YH, Ptácek LJ.

Neurology. 2003 Jun 10;60(11):1811-6.

PMID:
12796536
17.

Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits.

Derst C, Karschin C, Wischmeyer E, Hirsch JR, Preisig-Müller R, Rajan S, Engel H, Grzeschik K, Daut J, Karschin A.

FEBS Lett. 2001 Mar 2;491(3):305-11.

18.

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R.

J Clin Invest. 2002 Aug;110(3):381-8.

19.

Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features.

Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C, Griggs RC.

Ann Neurol. 1994 Mar;35(3):326-30.

PMID:
8080508
20.

Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.

Choi BO, Kim J, Suh BC, Yu JS, Sunwoo IN, Kim SJ, Kim GH, Chung KW.

J Hum Genet. 2007;52(3):280-3. Epub 2007 Jan 9.

PMID:
17211524
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