Morton CC - Search Results

1

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. Cho HJ, et al. Among authors: morton cc. J Mol Med (Berl). 2012 Nov;90(11):1321-1331. doi: 10.1007/s00109-012-0911-2. Epub 2012 May 19. J Mol Med (Berl). 2012. PMID: 22610276 Free PMC article.

2

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. Bae SH, et al. Among authors: morton cc. Hum Mutat. 2014 Dec;35(12):1506-1513. doi: 10.1002/humu.22701. Hum Mutat. 2014. PMID: 25230692 Free PMC article.

3

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. Street VA, et al. Among authors: morton cc. Am J Med Genet A. 2005 Dec 1;139A(2):86-95. doi: 10.1002/ajmg.a.30980. Am J Med Genet A. 2005. PMID: 16261627

4

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. Robertson NG, et al. Among authors: morton cc. Hum Mol Genet. 2006 Apr 1;15(7):1071-85. doi: 10.1093/hmg/ddl022. Epub 2006 Feb 15. Hum Mol Genet. 2006. PMID: 16481359

5

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. Robertson NG, et al. Among authors: morton cc. Hum Mol Genet. 2008 Nov 1;17(21):3426-34. doi: 10.1093/hmg/ddn236. Epub 2008 Aug 12. Hum Mol Genet. 2008. PMID: 18697796 Free PMC article.

6

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. Robertson NG, et al. Among authors: morton cc. J Assoc Res Otolaryngol. 2014 Dec;15(6):961-74. doi: 10.1007/s10162-014-0481-9. Epub 2014 Jul 22. J Assoc Res Otolaryngol. 2014. PMID: 25049087 Free PMC article.

7

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. Burgess BJ, et al. Among authors: morton cc. Audiol Neurootol. 2016;21(2):88-97. doi: 10.1159/000443822. Epub 2016 Mar 30. Audiol Neurootol. 2016. PMID: 27023102 Free PMC article.

8

First Report of Bilateral External Auditory Canal Cochlin Aggregates ("Cochlinomas") with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin.

Basu A, Boczek NJ, Robertson NG, Nasr SH, Jethanamest D, McPhail ED, Kurtin PJ, Dasari S, Butz M, Morton CC, Highsmith WE, Zhou F. Basu A, et al. Among authors: morton cc. Head Neck Pathol. 2020 Sep;14(3):808-816. doi: 10.1007/s12105-019-01073-7. Epub 2019 Sep 6. Head Neck Pathol. 2020. PMID: 31493294 Free PMC article.

9

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. Kemperman MH, et al. Among authors: morton cc. Otol Neurotol. 2005 Sep;26(5):926-33. doi: 10.1097/01.mao.0000185062.12458.87. Otol Neurotol. 2005. PMID: 16151339

10

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 Jr, Miyamoto RT, Linthicum FH Jr, Lubianca Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG. Robertson NG, et al. Among authors: morton cc. Nat Genet. 1998 Nov;20(3):299-303. doi: 10.1038/3118. Nat Genet. 1998. PMID: 9806553

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