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Items: 1 to 20 of 61

1.

Moderate hearing loss associated with a novel KCNQ4 non-truncating mutation located near the N-terminus of the pore helix.

Watabe T, Matsunaga T, Namba K, Mutai H, Inoue Y, Ogawa K.

Biochem Biophys Res Commun. 2013 Mar 15;432(3):475-9. doi: 10.1016/j.bbrc.2013.01.118. Epub 2013 Feb 9.

PMID:
23399560
2.

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.

3.

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
4.

A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations.

Ishikawa K, Naito T, Nishio SY, Iwasa Y, Nakamura K, Usami S, Ichimura K.

Acta Otolaryngol. 2014 Jun;134(6):557-63. doi: 10.3109/00016489.2014.890740. Epub 2014 Mar 21.

PMID:
24655070
5.

A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.

Wasano K, Mutai H, Obuchi C, Masuda S, Matsunaga T.

Biochem Biophys Res Commun. 2015 Aug 7;463(4):582-6. doi: 10.1016/j.bbrc.2015.05.099. Epub 2015 May 31.

PMID:
26036578
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.

7.

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
8.

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.

9.

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
10.

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
11.

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.

12.

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

Hildebrand MS, Tack D, McMordie SJ, DeLuca A, Hur IA, Nishimura C, Huygen P, Casavant TL, Smith RJ.

Genet Med. 2008 Nov;10(11):797-804. doi: 10.1097/GIM.0b013e318187e106.

13.

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
14.

[KCNQ4 gene mutations affected a pedigree with autosomal dominant hereditary hearing loss].

Wang Q, Cao J, Li N, Yang Y, Wang Q, Yu L, Han D, Yang W.

Zhonghua Er Bi Yan Hou Ke Za Zhi. 2002 Oct;37(5):343-7. Chinese.

PMID:
12772453
15.

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
16.

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.

17.

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.

18.

Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

Topsakal V, Pennings RJ, te Brinke H, Hamel B, Huygen PL, Kremer H, Cremers CW.

Otol Neurotol. 2005 Jan;26(1):52-8.

PMID:
15699719
19.
20.

Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH.

Bom SJ, De Leenheer EM, Lemaire FX, Kemperman MH, Verhagen WI, Marres HA, Kunst HP, Ensink RJ, Bosman AJ, Van Camp G, Cremers FP, Huygen PL, Cremers CW.

Arch Otolaryngol Head Neck Surg. 2001 Sep;127(9):1045-8.

PMID:
11556850

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