171 related articles for article (PubMed ID: 16078052)
1. Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder.
Makishima T; Rodriguez CI; Robertson NG; Morton CC; Stewart CL; Griffith AJ
Hum Genet; 2005 Oct; 118(1):29-34. PubMed ID: 16078052
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.
Street VA; Kallman JC; Robertson NG; Kuo SF; Morton CC; Phillips JO
Am J Med Genet A; 2005 Dec; 139A(2):86-95. PubMed ID: 16261627
[TBL] [Abstract][Full Text] [Related]
7. A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction.
Robertson NG; Jones SM; Sivakumaran TA; Giersch AB; Jurado SA; Call LM; Miller CE; Maison SF; Liberman MC; Morton CC
Hum Mol Genet; 2008 Nov; 17(21):3426-34. PubMed ID: 18697796
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Cochlin in normal middle ear and abnormal middle ear deposits in DFNA9 and Coch (G88E/G88E) mice.
Robertson NG; O'Malley JT; Ong CA; Giersch AB; Shen J; Stankovic KM; Morton CC
J Assoc Res Otolaryngol; 2014 Dec; 15(6):961-74. PubMed ID: 25049087
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Rational design of a genomically humanized mouse model for dominantly inherited hearing loss, DFNA9.
Verdoodt D; van Wijk E; Broekman S; Venselaar H; Aben F; Sels L; De Backer E; Gommeren H; Szewczyk K; Van Camp G; Ponsaerts P; Van Rompaey V; de Vrieze E
Hear Res; 2024 Feb; 442():108947. PubMed ID: 38218018
[TBL] [Abstract][Full Text] [Related]
13. Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin.
Grabski R; Szul T; Sasaki T; Timpl R; Mayne R; Hicks B; Sztul E
Hum Genet; 2003 Oct; 113(5):406-16. PubMed ID: 12928864
[TBL] [Abstract][Full Text] [Related]
14. LCCL peptide cleavage after noise exposure exacerbates hearing loss and is associated with the monocyte infiltration in the cochlea.
Bae SH; Yoo JE; Hong JW; Park HR; Noh B; Kim H; Kang M; Hyun YM; Gee HY; Choi JY; Jung J
Hear Res; 2021 Dec; 412():108378. PubMed ID: 34735822
[TBL] [Abstract][Full Text] [Related]
15. Expression of full-length Cochlin p63s is inner ear specific.
Li L; Ikezono T; Watanabe A; Shindo S; Pawankar R; Yagi T
Auris Nasus Larynx; 2005 Sep; 32(3):219-23. PubMed ID: 15885953
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Role of protein misfolding in DFNA9 hearing loss.
Yao J; Py BF; Zhu H; Bao J; Yuan J
J Biol Chem; 2010 May; 285(20):14909-14919. PubMed ID: 20228067
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.
Robertson NG; Lu L; Heller S; Merchant SN; Eavey RD; McKenna M; Nadol JB; Miyamoto RT; Linthicum FH; Lubianca Neto JF; Hudspeth AJ; Seidman CE; Morton CC; Seidman JG
Nat Genet; 1998 Nov; 20(3):299-303. PubMed ID: 9806553
[TBL] [Abstract][Full Text] [Related]
20. Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9).
Honda T; Kawasaki N; Yanagihara R; Tamura R; Murakami K; Ichimiya T; Matsumoto N; Nishihara S; Yamamoto K
PLoS One; 2022; 17(7):e0268485. PubMed ID: 35901072
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]