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Select item 107622061.

Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene

Julie Moyaert, Annick Gilles, Griet Mertens, Marc J. W. Lammers, Hanne Gommeren, Sebastien Janssens de Varebeke, Erik Fransen, Nicolas Verhaert, Sam Denys, Raymond van de Berg, Ronald Pennings, Olivier Vanderveken, Vincent Van Rompaey

Sci Rep. 2024; 14: 184. Published online 2024 Jan 2. doi: 10.1038/s41598-023-50583-6

PMCID:: PMC10762206

Abstract Article PDF–1.9M

Select item 105033612.

Evaluation of hearing levels and vestibular function and the impact on cognitive performance in (pre)-symptomatic patients with DFNA9: protocol for a prospective longitudinal study (Rosetta study)

Hanne Gommeren, Julie Moyaert, Joyce Bosmans, Griet Mertens, Patrick Cras, Sebastiaan Engelborghs, Angelique Van Ombergen, Annick Gilles, Debby Van Dam, Vincent Van Rompaey

BMJ Open. 2023; 13(9): e075179. Published online 2023 Sep 13. doi: 10.1136/bmjopen-2023-075179

PMCID:: PMC10503361

Abstract Article PDF–332K

Select item 89615303.

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis

Sybren M. M. Robijn, Jeroen J. Smits, Kadriye Sezer, Patrick L. M. Huygen, Andy J. Beynon, Erwin van Wijk, Hannie Kremer, Erik de Vrieze, Cornelis P. Lanting, Ronald J. E. Pennings

Biomolecules. 2022 Feb; 12(2): 220. Published online 2022 Jan 27. doi: 10.3390/biom12020220

PMCID:: PMC8961530

Abstract Article PDF–1.8M

Select item 85420864.

Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I—A Cross-sectional Study of Hearing Function in 111 Carriers

Sebastien P. F. JanssensdeVarebeke, Julie Moyaert, Erik Fransen, Britt Bulen, Celine Neesen, Katrien Devroye, Raymond van de Berg, Ronald J. E. Pennings, Vedat Topsakal, Olivier Vanderveken, Guy Van Camp, Vincent Van Rompaey

Ear Hear. 2021 Nov-Dec; 42(6): 1508–1524. Published online 2021 Oct 22. doi: 10.1097/AUD.0000000000001099

PMCID:: PMC8542086

Abstract Article PDF–1.4M

Select item 78683735.

Homozygote loss-of-function variants in the human COCH gene underlie hearing loss

Nada Danial-Farran, Elena Chervinsky, Prathamesh T Nadar-Ponniah, Eran Cohen Barak, Shahar Taiber, Morad Khayat, Karen B. Avraham, Stavit A. Shalev

Eur J Hum Genet. 2021 Feb; 29(2): 338–342. Published online 2020 Sep 16. doi: 10.1038/s41431-020-00724-6

PMCID:: PMC7868373

Abstract Article PDF–737K

Select item 75728176.

Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Hearing Loss

Kevin T Booth, Amama Ghaffar, Muhammad Rashid, Luke T Hovey, Mureed Hussain, Kathy Frees, Erika M Renkes, Carla J Nishimura, Mohsin Shahzad, Richard J Smith, Zubair Ahmed, Hela Azaiez, Saima Riazuddin

Hum Genet. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Hum Genet. 2020 Dec; 139(12): 1565–1574. Published online 2020 Jun 19. doi: 10.1007/s00439-020-02197-5

PMCID:: PMC7572817

Abstract Article PDF–1018K

Select item 75269777.

Cochlin-cleaved LCCL is a dual-armed regulator of the innate immune response in the cochlea during inflammation

Hyeong-Jun Rhyu, Seong Hoon Bae, Jinsei Jung, Young-Min Hyun

BMB Rep. 2020 Sep 30; 53(9): 449–452. Published online 2020 Sep 30. doi: 10.5483/BMBRep.2020.53.9.104

PMCID:: PMC7526977

Abstract Article PDF–1.8M

Select item 58915018.

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment

Sebastien P. F. JanssensdeVarebeke, Guy Van Camp, Nils Peeters, Ellen Elinck, Josine Widdershoven, Tony Cox, Kristof Deben, Katrien Ketelslagers, Tom Crins, Wim Wuyts

Eur J Hum Genet. 2018 Apr; 26(4): 587–591. Published online 2018 Feb 15. doi: 10.1038/s41431-017-0066-2

PMCID:: PMC5891501

Abstract Article PDF–500K

Select item 52431279.

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

Qi Wang, Peipei Fei, Hongbo Gu, Yanmei Zhang, Xiaomei Ke, Yuhe Liu

PLoS One. 2017; 12(1): e0170011. Published online 2017 Jan 18. doi: 10.1371/journal.pone.0170011

PMCID:: PMC5243127

Abstract Article PDF–1.3M

Select item 522303810.

Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH

Xiaodong Gu, Wenling Su, Mingliang Tang, Luo Guo, Liping Zhao, Huawei Li

Neural Plast. 2016; 2016: 5310192. Published online 2016 Dec 27. doi: 10.1155/2016/5310192

PMCID:: PMC5223038

Abstract Article PDF–668K

Select item 437346911.

Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder

Seung-Hyun Bae, Nahid G. Robertson, Hyun-Ju Cho, Cynthia C. Morton, Da Jung Jung, Jeong-In Baek, Soo-Young Choi, Jaetae Lee, Kyu-Yup Lee, Un-Kyung Kim

Hum Mutat. Author manuscript; available in PMC 2015 Mar 25.

Published in final edited form as: Hum Mutat. 2014 Dec; 35(12): 1506–1513. doi: 10.1002/humu.22701

PMCID:: PMC4373469

Abstract Article PDF–1.8M

Select item 332972412.

A Novel Mutation in COCH – Implications for Genotype-Phenotype Correlations in DFNA9 Hearing Loss

Michael S. Hildebrand, Luke Gandolfo, A. Eliot Shearer, Jennifer A. Webster, Maren Jensen, William J. Kimberling, Dietrich Stephan, Patrick L.M. Huygen, Richard J.H. Smith, Melanie Bahlo

Laryngoscope. Author manuscript; available in PMC 2012 Apr 19.

Published in final edited form as: Laryngoscope. 2010 Dec; 120(12): 2489–2493. doi: 10.1002/lary.21159

PMCID:: PMC3329724

Abstract Article PDF–830K

Select item 286840213.

COCH Transgene Expression in Cultured Human Trabecular Meshwork Cells and Its Effect on Outflow Facility in Monkey Organ Cultured Anterior Segments

Eun Suk Lee, B'Ann T. Gabelt, Jennifer A. Faralli, Donna M. Peters, Curtis R. Brandt, Paul L. Kaufman, Sanjoy K. Bhattacharya

Invest Ophthalmol Vis Sci. 2010 Apr; 51(4): 2060–2066. doi: 10.1167/iovs.09-4521

PMCID:: PMC2868402

Abstract Article PDF–761K

Select item 272061614.

Potential for Transcriptional Upregulation of Cochlin in Glaucomatous Trabecular Meshwork: A Combinatorial Bioinformatic and Biochemical Analytical Approach

Renata G. Picciani, Anthony Diaz, Richard K. Lee, Sanjoy K. Bhattacharya

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2010 Jul 1.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2009 Jul; 50(7): 3106–3111. Published online 2008 Dec 20. doi: 10.1167/iovs.08-3106

PMCID:: PMC2720616

Abstract Article PDF–765K

Select item 263272015.

Mutation in the COCH gene is associated with superior semicircular canal dehiscence

Michael S. Hildebrand, Dylan Tack, Adam DeLuca, In Ae Hur, Jana Van M. Rybroek, Sarah J. McMordie, Ann Muilenburg, David Hoskinson, Guy Van Camp, Myles L. Pensak, Ian S. Storper, Patrick L.M. Huygen, Thomas L. Casavant, Richard J.H. Smith

Am J Med Genet A. Author manuscript; available in PMC 2010 Jan 15.

Published in final edited form as: Am J Med Genet A. 2009 Feb; 149A(2): 280–285. doi: 10.1002/ajmg.a.32618

PMCID:: PMC2632720

Article PDF–699K

Select item 173552516.

Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9

N Robertson, S Hamaker, V Patriub, J Aster, C Morton

J Med Genet. 2003 Jul; 40(7): 479–486. doi: 10.1136/jmg.40.7.479

PMCID:: PMC1735525

Summary PDF–266K

Select item 12564917.

NMR structure of the LCCL domain and implications for DFNA9 deafness disorder

Edvards Liepinsh, Mária Trexler, Andrei Kaikkonen, Johan Weigelt, László Bányai, László Patthy, Gottfried Otting

EMBO J. 2001 Oct 1; 20(19): 5347–5353. doi: 10.1093/emboj/20.19.5347

PMCID:: PMC125649

Abstract Article PDF–372K

Select item 438995818.

Cochlin in Normal Middle Ear and Abnormal Middle Ear Deposits in DFNA9 and Coch^G88E/G88E Mice

Nahid G. Robertson, Jennifer T. O’Malley, Cheng Ai Ong, Anne B.S. Giersch, Jun Shen, Konstantina M. Stankovic, Cynthia C. Morton

J Assoc Res Otolaryngol. 2014 Dec; 15(6): 961–974. Published online 2014 Jul 22. doi: 10.1007/s10162-014-0481-9

PMCID:: PMC4389958

Abstract Article PDF–21M

Select item 436177519.

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

Hyun-Ju Cho, Hong-Joon Park, Maria Trexler, Hanka Venselaar, Kyu Yup Lee, Nahid G. Robertson, Jeong-In Baek, Beom Sik Kang, Cynthia C. Morton, Gert Vriend, László Patthy, Un-Kyung Kim

J Mol Med (Berl) Author manuscript; available in PMC 2015 Mar 17.

Published in final edited form as: J Mol Med (Berl). 2012 Nov; 90(11): 1321–1331. Published online 2012 May 19. doi: 10.1007/s00109-012-0911-2