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Items: 1 to 20 of 233

1.

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.

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.

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.

4.

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.

5.

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.

6.

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
7.

Kir 2.1 channelopathies: the Andersen-Tawil syndrome.

Tristani-Firouzi M, Etheridge SP.

Pflugers Arch. 2010 Jul;460(2):289-94. doi: 10.1007/s00424-010-0820-6. Epub 2010 Mar 21. Review.

PMID:
20306271
8.

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
9.

Management and treatment of Andersen-Tawil syndrome (ATS).

Sansone V, Tawil R.

Neurotherapeutics. 2007 Apr;4(2):233-7. Review.

PMID:
17395133
10.

Exaggerated Mg2+ inhibition of Kir2.1 as a consequence of reduced PIP2 sensitivity in Andersen syndrome.

Ballester LY, Vanoye CG, George AL Jr.

Channels (Austin). 2007 May-Jun;1(3):209-17. Epub 2007 Jul 20.

PMID:
18690034
11.

Electrophysiological mechanisms of ventricular arrhythmias in relation to Andersen-Tawil syndrome under conditions of reduced IK1: a simulation study.

Sung RJ, Wu SN, Wu JS, Chang HD, Luo CH.

Am J Physiol Heart Circ Physiol. 2006 Dec;291(6):H2597-605. Epub 2006 Jul 28.

12.

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.

13.

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
14.

Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies.

Meola G, Sansone V, Rotondo G, Mancinelli E.

Eur J Histochem. 2003;47(1):17-28.

PMID:
12685554
15.

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
16.

A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome.

Chan HF, Chen ML, Su JJ, Ko LC, Lin CH, Wu RM.

J Hum Genet. 2010 Mar;55(3):186-8. doi: 10.1038/jhg.2010.2. Epub 2010 Jan 29.

PMID:
20111058
17.

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
18.

A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.

Kokunai Y, Nakata T, Furuta M, Sakata S, Kimura H, Aiba T, Yoshinaga M, Osaki Y, Nakamori M, Itoh H, Sato T, Kubota T, Kadota K, Shindo K, Mochizuki H, Shimizu W, Horie M, Okamura Y, Ohno K, Takahashi MP.

Neurology. 2014 Mar 25;82(12):1058-64. doi: 10.1212/WNL.0000000000000239. Epub 2014 Feb 26.

PMID:
24574546
19.

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
20.

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
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