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Items: 1 to 20 of 104

1.

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. doi: 10.1007/s10162-014-0481-9. Epub 2014 Jul 22.

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 Jr, Sarracino DA, Verhagen WI, Morton CC.

Hum Mol Genet. 2006 Apr 1;15(7):1071-85. Epub 2006 Feb 15.

PMID:
16481359
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. doi: 10.1016/j.heares.2010.11.002. Epub 2010 Nov 10.

4.

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 1;17(21):3426-34. doi: 10.1093/hmg/ddn236. Epub 2008 Aug 12.

5.

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. doi: 10.1002/humu.22855. Epub 2015 Aug 27.

PMID:
26256111
6.

Extralabyrinthine manifestations of DFNA9.

McCall AA, Linthicum FH Jr, O'Malley JT, Adams JC, Merchant SN, Bassim MK, Gellibolian R, Fayad JN.

J Assoc Res Otolaryngol. 2011 Apr;12(2):141-9. doi: 10.1007/s10162-010-0245-0. Epub 2010 Nov 4.

8.

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 15;10(22):2493-500.

PMID:
11709536
9.

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. Epub 2003 Aug 20.

PMID:
12928864
10.

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. Epub 2005 Oct 28.

PMID:
16078052
11.

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):1506-13. doi: 10.1002/humu.22701.

12.

Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.

Kemperman MH, De Leenheer EM, Huygen PL, van Duijnhoven G, Morton CC, Robertson NG, Cremers FP, Kremer H, Cremers CW.

Otol Neurotol. 2005 Sep;26(5):926-33.

PMID:
16151339
13.

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 Jr.

Audiol Neurootol. 2016;21(2):88-97. doi: 10.1159/000443822. Epub 2016 Mar 30.

14.

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.

Cho HJ, Park HJ, Trexler M, Venselaar H, Lee KY, Robertson NG, Baek JI, Kang BS, Morton CC, Vriend G, Patthy L, Kim UK.

J Mol Med (Berl). 2012 Nov;90(11):1321-31. doi: 10.1007/s00109-012-0911-2. Epub 2012 May 19.

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.

PMID:
15885953
16.

Role of protein misfolding in DFNA9 hearing loss.

Yao J, Py BF, Zhu H, Bao J, Yuan J.

J Biol Chem. 2010 May 14;285(20):14909-19. doi: 10.1074/jbc.M110.106724. Epub 2010 Mar 12.

17.

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W.

Pauw RJ, Collin RW, Huygen PL, Hoefsloot LH, Kremer H, Cremers CW.

Audiol Neurootol. 2007;12(2):77-84. Epub 2006 Dec 6.

PMID:
17264471
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. doi: 10.1007/s00405-015-3885-1. Epub 2016 Jan 13.

PMID:
26758463
19.

Expression of cochlin in the vestibular organ of rats.

Ikezono T, Shindo S, Ishizaki M, Li L, Tomiyama S, Takumida M, Pawankar R, Watanabe A, Saito A, Yagi T.

ORL J Otorhinolaryngol Relat Spec. 2005;67(5):252-8.

PMID:
16374056
20.

Proteomics reveal Cochlin deposits associated with glaucomatous trabecular meshwork.

Bhattacharya SK, Rockwood EJ, Smith SD, Bonilha VL, Crabb JS, Kuchtey RW, Robertson NG, Peachey NS, Morton CC, Crabb JW.

J Biol Chem. 2005 Feb 18;280(7):6080-4. Epub 2004 Dec 3.

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