| 1 | DFNA2, KCNQ4
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| Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.
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| Abdelfatah N, McComiskey DA, Doucette L, Griffin A, Moore SJ, Negrijn C, Hodgkinson KA, King JJ, Larijani M, Houston J, Stanton SG, Young TL.
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| Eur J Hum Genet 21(10):1112-9. doi: 10.1038/ejhg.2013.5. Epub 2013 Feb 27.
2013
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| 2 | HSP90AA1, HSP90B1, KCNQ4
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| Distinct roles of molecular chaperones HSP90α and HSP90β in the biogenesis of KCNQ4 channels.
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| Gao Y, Yechikov S, Vazquez AE, Chen D, Nie L.
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| PLoS One 8(2):e57282. doi: 10.1371/journal.pone.0057282. Epub 2013 Feb 19.
2013
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| 3 | DFNA2, KCNQ4
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| Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.
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| Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM.
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| Arch Otolaryngol Head Neck Surg 137(1):54-9.
2011
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| 4 | DFNA2, KCNQ4
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| Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2.
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| Kim HJ, Lv P, Sihn CR, Yamoah EN.
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| J Biol Chem 286(2):1517-27. Epub 2010 Oct 21.
2011
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| 5 | DFNA2, KCNQ4
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| Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology.
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| Baek JI, Park HJ, Park K, Choi SJ, Lee KY, Yi JH, Friedman TB, Drayna D, Shin KS, Kim UK.
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| Biochim Biophys Acta 1812(4):536-43. Epub 2010 Sep 9.
2011
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| 6 | KCNQ4, KCNQ5
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| Participation of KCNQ (Kv7) potassium channels in myogenic control of cerebral arterial diameter.
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| Zhong XZ, Harhun MI, Olesen SP, Ohya S, Moffatt JD, Cole WC, Greenwood IA.
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| J Physiol 588(Pt 17):3277-93. doi: 10.1113/jphysiol.2010.192823. Epub 2010 Jul 12.
2010
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| 7 | KCNQ4, DFNA2
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| A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.
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| Menc’a A, Gonz‡lez-Nieto D, Modamio-H¿ybj¿r S, Etxeberr’a A, Ar‡nguez G, Salvador N, Del Castillo I, Villarroel A, Moreno F, Barrio L, Moreno-Pelayo MA.
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| Hum Genet 123(1):41-53. Epub 2007 Nov 21. 2008
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| 8 | DFNA2, KCNQ4
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| Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.
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| Hildebrand MS, Tack D, McMordie SJ, DeLuca A, Hur IA, Nishimura C, Huygen P, Casavant TL, Smith RJ.
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| Genet Med 10(11):797-804.
2008
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| 9 | KCNQ4
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| Roles of alternative splicing in the functional properties of inner ear-specific KCNQ4 channels.
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| Xu T, Nie L, Zhang Y, Mo J, Feng W, Wei D, Petrov E, Calisto LE, Kachar B, Beisel KW, Vazquez AE, Yamoah EN.
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| J Biol Chem 282(33):23899-909. Epub 2007 Jun 7. 2007
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| 10 | KCNQ4
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| KCNQ4: a gene for age-related hearing impairment?
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| Van Eyken E, Van Laer L, Fransen E, Topsakal V, Lemkens N, Laureys W, Nelissen N, Vandevelde A, Wienker T, Van De Heyning P, Van Camp G.
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| Hum Mutat 27(10):1007-16. 2006
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| 11 | KCNQ4
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| Regulation of the voltage-gated potassium channel KCNQ4 in the auditory pathway.
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| Chambard JM, Ashmore JF.
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| Pflugers Arch 450(1):34-44. Epub 2005 Jan 20. 2005
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| 12 | DFNA2,KCNQ4
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| Differential expression of KCNQ4 in inner hair cells and sensory neurons is the basis of progressive high-frequency hearing loss.
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| Beisel KW, Rocha-Sanchez SM, Morris KA, Nie L, Feng F, Kachar B, Yamoah EN, Fritzsch B.
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| J Neurosci 25(40):9285-93. 2005
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| 13 | KCNQ4
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| A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly.
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| Schwake M, Jentsch TJ, Friedrich T.
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| EMBO Rep 4(1):76-81. 2003
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| 14 | KCNQ4
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| A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.
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| Van Camp G, Coucke PJ, Akita J, Fransen E, Abe S, De Leenheer EM, Huygen PL, Cremers CW, Usami S.
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| Hum Mutat 20(1):15-9. 2002
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| 15 | DFNA2, KCNQ4
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| KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.
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| Kharkovets T, Hardelin JP, Safieddine S, Schweizer M, El-Amraoui A, Petit C, Jentsch TJ.
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| Proc Natl Acad Sci U S A 97(8):4333-8. 2000
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| 16 | DFNA2, KCNQ4
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| Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.
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| Van Hauwe P, Coucke PJ, Ensink RJ, Huygen P, Cremers CW, Van Camp G.
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| Am J Med Genet 93(3):184-7. 2000
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| 17 | DFNA2, KCNQ4
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| KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
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| Kubisch C, et al.
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| Cell 96 : 437-446. 1999
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| 18 | DFNA2, KCNQ4
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| Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
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| Coucke PJ, et al.
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| Hum Mol Genet 8(7):1321-1328. 1999
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