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Results: 1 to 20 of 192

1.

A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.

Mencía A, González-Nieto D, Modamio-Høybjør S, Etxeberría A, Aránguez G, Salvador N, Del Castillo I, Villarroel A, Moreno F, Barrio L, Moreno-Pelayo MA.

Hum Genet. 2008 Feb;123(1):41-53. Epub 2007 Nov 21.

PMID:
18030493
[PubMed - indexed for MEDLINE]
2.

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.

Kubisch C, Schroeder BC, Friedrich T, Lütjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ.

Cell. 1999 Feb 5;96(3):437-46.

PMID:
10025409
[PubMed - indexed for MEDLINE]
Free Article
3.

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

Van Hauwe P, Coucke PJ, Ensink RJ, Huygen P, Cremers CW, Van Camp G.

Am J Med Genet. 2000 Jul 31;93(3):184-7.

PMID:
10925378
[PubMed - indexed for MEDLINE]
4.

Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss.

Gao Y, Yechikov S, Vázquez AE, Chen D, Nie L.

J Cell Mol Med. 2013 Jul;17(7):889-900. doi: 10.1111/jcmm.12080. Epub 2013 Jun 11.

PMID:
23750663
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, Meyers J, Ensink RJ, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S, McGuirt WT, Smith RJ, Cremers CW, Van de Heyning P, Willems PJ, Smith SD, Van Camp G.

Hum Mol Genet. 1999 Jul;8(7):1321-8.

PMID:
10369879
[PubMed - indexed for MEDLINE]
Free Article
6.

Restoration of ion channel function in deafness-causing KCNQ4 mutants by synthetic channel openers.

Leitner MG, Feuer A, Ebers O, Schreiber DN, Halaszovich CR, Oliver D.

Br J Pharmacol. 2012 Apr;165(7):2244-59. doi: 10.1111/j.1476-5381.2011.01697.x.

PMID:
21951272
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Functional coassembly of KCNQ4 with KCNE-beta- subunits in Xenopus oocytes.

Strutz-Seebohm N, Seebohm G, Fedorenko O, Baltaev R, Engel J, Knirsch M, Lang F.

Cell Physiol Biochem. 2006;18(1-3):57-66. Epub 2006 Aug 15.

PMID:
16914890
[PubMed - indexed for MEDLINE]
8.

Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.

Talebizadeh Z, Kelley PM, Askew JW, Beisel KW, Smith SD.

Hum Mutat. 1999;14(6):493-501.

PMID:
10571947
[PubMed - indexed for MEDLINE]
9.

Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome.

Zehelein J, Thomas D, Khalil M, Wimmer AB, Koenen M, Licka M, Wu K, Kiehn J, Brockmeier K, Kreye VA, Karle CA, Katus HA, Ulmer HE, Schoels W.

Biochim Biophys Acta. 2004 Nov 5;1690(3):185-92.

PMID:
15511625
[PubMed - indexed for MEDLINE]
Free Article
10.

KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.

Kharkovets T, Hardelin JP, Safieddine S, Schweizer M, El-Amraoui A, Petit C, Jentsch TJ.

Proc Natl Acad Sci U S A. 2000 Apr 11;97(8):4333-8.

PMID:
10760300
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness.

Kharkovets T, Dedek K, Maier H, Schweizer M, Khimich D, Nouvian R, Vardanyan V, Leuwer R, Moser T, Jentsch TJ.

EMBO J. 2006 Feb 8;25(3):642-52. Epub 2006 Jan 26.

PMID:
16437162
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan.

Su CC, Yang JJ, Shieh JC, Su MC, Li SY.

Audiol Neurootol. 2007;12(1):20-6. Epub 2006 Oct 10.

PMID:
17033161
[PubMed - indexed for MEDLINE]
13.

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.

Kamada F, Kure S, Kudo T, Suzuki Y, Oshima T, Ichinohe A, Kojima K, Niihori T, Kanno J, Narumi Y, Narisawa A, Kato K, Aoki Y, Ikeda K, Kobayashi T, Matsubara Y.

J Hum Genet. 2006;51(5):455-60. Epub 2006 Apr 5.

PMID:
16596322
[PubMed - indexed for MEDLINE]
14.

Roles of alternative splicing in the functional properties of inner ear-specific KCNQ4 channels.

Xu T, Nie L, Zhang Y, Mo J, Feng W, Wei D, Petrov E, Calisto LE, Kachar B, Beisel KW, Vazquez AE, Yamoah EN.

J Biol Chem. 2007 Aug 17;282(33):23899-909. Epub 2007 Jun 7.

PMID:
17561493
[PubMed - indexed for MEDLINE]
Free Article
15.

Distinct roles of molecular chaperones HSP90α and HSP90β in the biogenesis of KCNQ4 channels.

Gao Y, Yechikov S, Vazquez AE, Chen D, Nie L.

PLoS One. 2013;8(2):e57282. doi: 10.1371/journal.pone.0057282. Epub 2013 Feb 19.

PMID:
23431407
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Regulation of KCNQ4 potassium channel prepulse dependence and current amplitude by SGK1 in Xenopus oocytes.

Seebohm G, Strutz-Seebohm N, Baltaev R, Korniychuk G, Knirsch M, Engel J, Lang F.

Cell Physiol Biochem. 2005;16(4-6):255-62.

PMID:
16301825
[PubMed - indexed for MEDLINE]
17.

Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology.

Baek JI, Park HJ, Park K, Choi SJ, Lee KY, Yi JH, Friedman TB, Drayna D, Shin KS, Kim UK.

Biochim Biophys Acta. 2011 Apr;1812(4):536-43. doi: 10.1016/j.bbadis.2010.09.001. Epub 2010 Sep 9.

PMID:
20832469
[PubMed - indexed for MEDLINE]
Free Article
18.

In silico modeling of the pore region of a KCNQ4 missense mutant from a patient with hearing loss.

Namba K, Mutai H, Kaneko H, Hashimoto S, Matsunaga T.

BMC Res Notes. 2012 Mar 15;5:145. doi: 10.1186/1756-0500-5-145.

PMID:
22420747
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Differential expression of KCNQ4 in inner hair cells and sensory neurons is the basis of progressive high-frequency hearing loss.

Beisel KW, Rocha-Sanchez SM, Morris KA, Nie L, Feng F, Kachar B, Yamoah EN, Fritzsch B.

J Neurosci. 2005 Oct 5;25(40):9285-93.

PMID:
16207888
[PubMed - indexed for MEDLINE]
Free Article
20.

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