177 related articles for article (PubMed ID: 26631968)
1. A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.
Masuda M; Mutai H; Arimoto Y; Nakano A; Matsunaga T
Biochem Biophys Res Commun; 2016 Jan; 469(2):270-4. PubMed ID: 26631968
[TBL] [Abstract][Full Text] [Related]
2. Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.
Jung J; Kim HS; Lee MG; Yang EJ; Choi JY
Hum Mutat; 2015 Dec; 36(12):1168-75. PubMed ID: 26256111
[TBL] [Abstract][Full Text] [Related]
3. Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.
Wang Q; Fei P; Gu H; Zhang Y; Ke X; Liu Y
PLoS One; 2017; 12(1):e0170011. PubMed ID: 28099493
[TBL] [Abstract][Full Text] [Related]
4. Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Booth KT; Ghaffar A; Rashid M; Hovey LT; Hussain M; Frees K; Renkes EM; Nishimura CJ; Shahzad M; Smith RJ; Ahmed Z; Azaiez H; Riazuddin S
Hum Genet; 2020 Dec; 139(12):1565-1574. PubMed ID: 32562050
[TBL] [Abstract][Full Text] [Related]
5. A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.
Hildebrand MS; Gandolfo L; Shearer AE; Webster JA; Jensen M; Kimberling WJ; Stephan D; Huygen PL; Smith RJ; Bahlo M
Laryngoscope; 2010 Dec; 120(12):2489-93. PubMed ID: 21046548
[TBL] [Abstract][Full Text] [Related]
6. Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.
Gao J; Xue J; Chen L; Ke X; Qi Y; Liu Y
Clin Genet; 2013 May; 83(5):477-81. PubMed ID: 22931125
[TBL] [Abstract][Full Text] [Related]
7. Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.
Robertson NG; Cremers CW; Huygen PL; Ikezono T; Krastins B; Kremer H; Kuo SF; Liberman MC; Merchant SN; Miller CE; Nadol JB; Sarracino DA; Verhagen WI; Morton CC
Hum Mol Genet; 2006 Apr; 15(7):1071-85. PubMed ID: 16481359
[TBL] [Abstract][Full Text] [Related]
8. Hearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder.
Jones SM; Robertson NG; Given S; Giersch AB; Liberman MC; Morton CC
Hear Res; 2011 Feb; 272(1-2):42-8. PubMed ID: 21073934
[TBL] [Abstract][Full Text] [Related]
9. Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.
Gu X; Su W; Tang M; Guo L; Zhao L; Li H
Neural Plast; 2016; 2016():5310192. PubMed ID: 28116169
[TBL] [Abstract][Full Text] [Related]
10. Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9.
Robertson NG; Resendes BL; Lin JS; Lee C; Aster JC; Adams JC; Morton CC
Hum Mol Genet; 2001 Oct; 10(22):2493-500. PubMed ID: 11709536
[TBL] [Abstract][Full Text] [Related]
11. Homozygote loss-of-function variants in the human COCH gene underlie hearing loss.
Danial-Farran N; Chervinsky E; Nadar-Ponniah PT; Cohen Barak E; Taiber S; Khayat M; Avraham KB; Shalev SA
Eur J Hum Genet; 2021 Feb; 29(2):338-342. PubMed ID: 32939038
[TBL] [Abstract][Full Text] [Related]
12. A Novel
Peng Y; Xiang M; Fan T; Zhong X; Dai A; Feng J; Guan P; Gong J; Li J; Wang Y
Life (Basel); 2023 Dec; 14(1):. PubMed ID: 38255649
[No Abstract] [Full Text] [Related]
13. Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.
Chen DY; Chai YC; Yang T; Wu H
Int J Pediatr Otorhinolaryngol; 2013 Oct; 77(10):1711-5. PubMed ID: 23993205
[TBL] [Abstract][Full Text] [Related]
14. On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.
Verdoodt D; Van Camp G; Ponsaerts P; Van Rompaey V
Hear Res; 2021 Mar; 401():108162. PubMed ID: 33421658
[TBL] [Abstract][Full Text] [Related]
15. Detailed hearing and vestibular profiles in the patients with COCH mutations.
Tsukada K; Ichinose A; Miyagawa M; Mori K; Hattori M; Nishio SY; Naito Y; Kitajiri S; Usami S
Ann Otol Rhinol Laryngol; 2015 May; 124 Suppl 1():100S-10S. PubMed ID: 25780252
[TBL] [Abstract][Full Text] [Related]
16. Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.
Bischoff AM; Pauw RJ; Huygen PL; Aandekerk AL; Kremer H; Cremers CW; Cruysberg JR
Am J Ophthalmol; 2007 May; 143(5):847-852. PubMed ID: 17368553
[TBL] [Abstract][Full Text] [Related]
17. Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.
Bae SH; Robertson NG; Cho HJ; Morton CC; Jung DJ; Baek JI; Choi SY; Lee J; Lee KY; Kim UK
Hum Mutat; 2014 Dec; 35(12):1506-1513. PubMed ID: 25230692
[TBL] [Abstract][Full Text] [Related]
18. Distinct vestibular phenotypes in DFNA9 families with COCH variants.
Kim BJ; Kim AR; Han KH; Rah YC; Hyun J; Ra BS; Koo JW; Choi BY
Eur Arch Otorhinolaryngol; 2016 Oct; 273(10):2993-3002. PubMed ID: 26758463
[TBL] [Abstract][Full Text] [Related]
19. Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9.
Robertson NG; Hamaker SA; Patriub V; Aster JC; Morton CC
J Med Genet; 2003 Jul; 40(7):479-86. PubMed ID: 12843317
[TBL] [Abstract][Full Text] [Related]
20. Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9).
Burgess BJ; O'Malley JT; Kamakura T; Kristiansen K; Robertson NG; Morton CC; Nadol JB
Audiol Neurootol; 2016; 21(2):88-97. PubMed ID: 27023102
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
