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Results: 12

1.

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

Mousavi Nik A, Gharaie S, Jeong Kim H.

Front Cell Neurosci. 2015 Feb 6;9:32. doi: 10.3389/fncel.2015.00032. eCollection 2015.

PMID:
25705178
[PubMed]
Free PMC Article
2.

Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.

Wang H, Zhao Y, Yi Y, Gao Y, Liu Q, Wang D, Li Q, Lan L, Li N, Guan J, Yin Z, Han B, Zhao F, Zong L, Xiong W, Yu L, Song L, Yi X, Yang L, Petit C, Wang Q.

PLoS One. 2014 Aug 12;9(8):e103133. doi: 10.1371/journal.pone.0103133. eCollection 2014.

PMID:
25116015
[PubMed - in process]
Free PMC Article
3.

Genetics of hearing loss: focus on DFNA2.

Dominguez LM, Dodson KM.

Appl Clin Genet. 2012 Oct 18;5:97-104. doi: 10.2147/TACG.S35525. Print 2012.

PMID:
23776385
[PubMed]
Free PMC Article
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.

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S.

PLoS One. 2013 May 23;8(5):e63231. doi: 10.1371/journal.pone.0063231. Print 2013.

PMID:
23717403
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.

Abdelfatah N, McComiskey DA, Doucette L, Griffin A, Moore SJ, Negrijn C, Hodgkinson KA, King JJ, Larijani M, Houston J, Stanton SG, Young TL.

Eur J Hum Genet. 2013 Oct;21(10):1112-9. doi: 10.1038/ejhg.2013.5. Epub 2013 Feb 27.

PMID:
23443030
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
8.

Vestibular role of KCNQ4 and KCNQ5 K+ channels revealed by mouse models.

Spitzmaul G, Tolosa L, Winkelman BH, Heidenreich M, Frens MA, Chabbert C, de Zeeuw CI, Jentsch TJ.

J Biol Chem. 2013 Mar 29;288(13):9334-44. doi: 10.1074/jbc.M112.433383. Epub 2013 Feb 13.

PMID:
23408425
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
10.

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM.

Arch Otolaryngol Head Neck Surg. 2011 Jan;137(1):54-9. doi: 10.1001/archoto.2010.234. Erratum in: Arch Otolaryngol Head Neck Surg. 2011 Jul;137(7):711.

PMID:
21242547
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2.

Kim HJ, Lv P, Sihn CR, Yamoah EN.

J Biol Chem. 2011 Jan 14;286(2):1517-27. doi: 10.1074/jbc.M110.179010. Epub 2010 Oct 21.

PMID:
20966080
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.

Nie L.

Curr Opin Otolaryngol Head Neck Surg. 2008 Oct;16(5):441-4. doi: 10.1097/MOO.0b013e32830f4aa3. Review.

PMID:
18797286
[PubMed - indexed for MEDLINE]
Free PMC Article
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