| 1 | DFNA2, KCNQ4
|
| 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 21(10):1112-9. doi: 10.1038/ejhg.2013.5. Epub 2013 Feb 27.
2013
|
| 2 | DFNA2, KCNQ4
|
| 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 137(1):54-9.
2011
|
| 3 | DFNA2, KCNQ4
|
| Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2.
|
| Kim HJ, Lv P, Sihn CR, Yamoah EN.
|
| J Biol Chem 286(2):1517-27. Epub 2010 Oct 21.
2011
|
| 4 | DFNA2, KCNQ4
|
| 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 1812(4):536-43. Epub 2010 Sep 9.
2011
|
| 5 | KCNQ4, DFNA2
|
| A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.
|
| 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.
|
| Hum Genet 123(1):41-53. Epub 2007 Nov 21. 2008
|
| 6 | DFNA2, KCNQ4
|
| 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 10(11):797-804.
2008
|
| 7 | DFNA2,KCNQ4
|
| 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 25(40):9285-93. 2005
|
| 8 | DFNA2, KCNQ4
|
| 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 97(8):4333-8. 2000
|
| 9 | DFNA2, KCNQ4
|
| 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 93(3):184-7. 2000
|
| 10 | DFNA2, KCNQ4
|
| KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
|
| Kubisch C, et al.
|
| Cell 96 : 437-446. 1999
|
| 11 | DFNA2, KCNQ4
|
| Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
|
| Coucke PJ, et al.
|
| Hum Mol Genet 8(7):1321-1328. 1999
|
| 12 | DFN2, DFNA10, DFNA13, DFNA18, DFNA2, DFNA4, DFNA5, DFNA6, DFNB12, DFNB13, DFNB15, DFNB16, DFNB17, DFNB19, DFNB6, DFNB7, DFNB8, USH1D, USH1E, USH1F, CLRN1
|
| Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness.
|
| Skvorak AB, et al.
|
| Hum Mol Genet 8(3):439-52 1999
|
| 13 | DFNA2, DFNA12
|
| Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family.
|
| Balciuniene J, et al.
|
| Am J Hum Genet 63 : 786-793. 1998
|
| 14 | DFNA2
|
| Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.
|
| Van Camp G, et al.
|
| Genomics 41 : 70-74. 1997
|
| 15 | DFNA2
|
| Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families.
|
| Coucke P, et al.
|
| N Engl J Med 331 : 425-431. 1994
|