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Items: 1 to 20 of 145

1.

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.

2.

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.

PMID:
17324964
3.

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.

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.

Andersen's syndrome mutants produce a knockdown of inwardly rectifying K+ channel in mouse skeletal muscle in vivo.

Simkin D, Robin G, Giuliano S, Vukolic A, Moceri P, Guy N, Wagner KD, Lacampagne A, Allard B, Bendahhou S.

Cell Tissue Res. 2018 Feb;371(2):309-323. doi: 10.1007/s00441-017-2696-7. Epub 2017 Oct 10.

PMID:
29018970
7.

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
8.

Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome.

Ballester LY, Benson DW, Wong B, Law IH, Mathews KD, Vanoye CG, George AL Jr.

Hum Mutat. 2006 Apr;27(4):388.

PMID:
16541386
9.

A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome.

Doi T, Makiyama T, Morimoto T, Haruna Y, Tsuji K, Ohno S, Akao M, Takahashi Y, Kimura T, Horie M.

Circ Cardiovasc Genet. 2011 Jun;4(3):253-60. doi: 10.1161/CIRCGENETICS.110.958157. Epub 2011 Apr 14.

PMID:
21493816
10.

Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.

Bendahhou S, Donaldson MR, Plaster NM, Tristani-Firouzi M, Fu YH, Ptácek LJ.

J Biol Chem. 2003 Dec 19;278(51):51779-85. Epub 2003 Oct 1.

11.

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.

12.

T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity.

Tani Y, Miura D, Kurokawa J, Nakamura K, Ouchida M, Shimizu K, Ohe T, Furukawa T.

J Mol Cell Cardiol. 2007 Aug;43(2):187-96. Epub 2007 May 18.

PMID:
17582433
13.

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
14.

Andersen's syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1.

Pegan S, Arrabit C, Slesinger PA, Choe S.

Biochemistry. 2006 Jul 18;45(28):8599-606.

PMID:
16834334
15.

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
16.

A novel inwardly rectifying K+ channel, Kir2.5, is upregulated under chronic cold stress in fish cardiac myocytes.

Hassinen M, Paajanen V, Vornanen M.

J Exp Biol. 2008 Jul;211(Pt 13):2162-71. doi: 10.1242/jeb.016121.

17.

Andersen's syndrome: a distinct periodic paralysis.

Sansone V, Griggs RC, Meola G, Ptácek LJ, Barohn R, Iannaccone S, Bryan W, Baker N, Janas SJ, Scott W, Ririe D, Tawil R.

Ann Neurol. 1997 Sep;42(3):305-12.

18.

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
19.

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.

PMID:
12909315
20.

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.

PMID:
12045162

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