Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 102

1.

Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis.

Cheng CJ, Lin SH, Lo YF, Yang SS, Hsu YJ, Cannon SC, Huang CL.

J Biol Chem. 2011 Aug 5;286(31):27425-35. doi: 10.1074/jbc.M111.249656. Epub 2011 Jun 10. Erratum in: J Biol Chem. 2011 Sep 23;286(38):33707.

PMID:
21665951
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.

Ryan DP, da Silva MR, Soong TW, Fontaine B, Donaldson MR, Kung AW, Jongjaroenprasert W, Liang MC, Khoo DH, Cheah JS, Ho SC, Bernstein HS, Maciel RM, Brown RH Jr, Ptácek LJ.

Cell. 2010 Jan 8;140(1):88-98. doi: 10.1016/j.cell.2009.12.024.

PMID:
20074522
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Mutation screening in Chinese hypokalemic periodic paralysis patients.

Wang W, Jiang L, Ye L, Zhu N, Su T, Guan L, Li X, Ning G.

Mol Genet Metab. 2006 Apr;87(4):359-63. Epub 2006 Jan 4.

PMID:
16386935
[PubMed - indexed for MEDLINE]
4.

Genetic variant rs623011 (17q24.3) associates with non-familial thyrotoxic and sporadic hypokalemic paralysis.

Chu PY, Cheng CJ, Tseng MH, Yang SS, Chen HC, Lin SH.

Clin Chim Acta. 2012 Dec 24;414:105-8. doi: 10.1016/j.cca.2012.08.004. Epub 2012 Aug 15.

PMID:
22910584
[PubMed - indexed for MEDLINE]
5.

Mechanism of thyrotoxic periodic paralysis.

Lin SH, Huang CL.

J Am Soc Nephrol. 2012 Jun;23(6):985-8. doi: 10.1681/ASN.2012010046. Epub 2012 Mar 29. Review.

PMID:
22460532
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis.

Ng WY, Lui KF, Thai AC, Cheah JS.

Thyroid. 2004 Mar;14(3):187-90.

PMID:
15072700
[PubMed - indexed for MEDLINE]
7.

Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels.

Dassau L, Conti LR, Radeke CM, Ptáček LJ, Vandenberg CA.

J Biol Chem. 2011 Mar 18;286(11):9526-41. doi: 10.1074/jbc.M110.170597. Epub 2011 Jan 5.

PMID:
21209095
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

Jurkat-Rott K, Mitrovic N, Hang C, Kouzmekine A, Iaizzo P, Herzog J, Lerche H, Nicole S, Vale-Santos J, Chauveau D, Fontaine B, Lehmann-Horn F.

Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9549-54.

PMID:
10944223
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel alpha1 subunit gene (Cav1.1) are not associated with thyrotoxic hypokalaemic periodic paralysis.

Dias da Silva MR, Cerutti JM, Tengan CH, Furuzawa GK, Vieira TC, Gabbai AA, Maciel RM.

Clin Endocrinol (Oxf). 2002 Mar;56(3):367-75.

PMID:
11940049
[PubMed - indexed for MEDLINE]
10.

Reduced expression and abnormal localization of the K(ATP) channel subunit SUR2A in patients with familial hypokalemic periodic paralysis.

Kim SJ, Lee YJ, Kim JB.

Biochem Biophys Res Commun. 2010 Jan 1;391(1):974-8. doi: 10.1016/j.bbrc.2009.11.177. Epub 2009 Dec 4.

PMID:
19962959
[PubMed - indexed for MEDLINE]
11.

Skeletal muscle dihydropyridine-sensitive calcium channel (CACNA1S) gene mutations in chinese patients with hypokalemic periodic paralysis.

Lin SH, Hsu YD, Cheng NL, Kao MC.

Am J Med Sci. 2005 Feb;329(2):66-70.

PMID:
15711422
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
15831539
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

INa and IKir are reduced in Type 1 hypokalemic and thyrotoxic periodic paralysis.

Puwanant A, Ruff RL.

Muscle Nerve. 2010 Sep;42(3):315-27. doi: 10.1002/mus.21693.

PMID:
20589886
[PubMed - indexed for MEDLINE]
14.

A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis.

Dias Da Silva MR, Cerutti JM, Arnaldi LA, Maciel RM.

J Clin Endocrinol Metab. 2002 Nov;87(11):4881-4.

PMID:
12414843
[PubMed - indexed for MEDLINE]
15.

Extracellular potassium homeostasis: insights from hypokalemic periodic paralysis.

Cheng CJ, Kuo E, Huang CL.

Semin Nephrol. 2013 May;33(3):237-47. doi: 10.1016/j.semnephrol.2013.04.004. Review.

PMID:
23953801
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Expression patterns of two potassium channel genes in skeletal muscle cells of patients with familial hypokalemic periodic paralysis.

Kim JB, Lee GM, Kim SJ, Yoon DH, Lee YH.

Neurol India. 2011 Jul-Aug;59(4):527-31. doi: 10.4103/0028-3886.84331.

PMID:
21891927
[PubMed - indexed for MEDLINE]
Free Article
17.

The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.

Struyk AF, Scoggan KA, Bulman DE, Cannon SC.

J Neurosci. 2000 Dec 1;20(23):8610-7.

PMID:
11102465
[PubMed - indexed for MEDLINE]
Free Article
18.

Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis.

Struyk AF, Markin VS, Francis D, Cannon SC.

J Gen Physiol. 2008 Oct;132(4):447-64. doi: 10.1085/jgp.200809967.

PMID:
18824591
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis.

Fouad G, Dalakas M, Servidei S, Mendell JR, Van den Bergh P, Angelini C, Alderson K, Griggs RC, Tawil R, Gregg R, Hogan K, Powers PA, Weinberg N, Malonee W, Ptácek LJ.

Neuromuscul Disord. 1997 Jan;7(1):33-8.

PMID:
9132138
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
12032359
[PubMed - indexed for MEDLINE]
Free PMC Article
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk