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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

Article PDF–1.9M

Select item 93332812.

Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9)

Tomoko Honda, Norihito Kawasaki, Rei Yanagihara, Ryo Tamura, Karin Murakami, Tomomi Ichimiya, Naoki Matsumoto, Shoko Nishihara, Kazuo Yamamoto

PLoS One. 2022; 17(7): e0268485. Published online 2022 Jul 28. doi: 10.1371/journal.pone.0268485

PMCID:: PMC9333281

Article PDF–2.1M

Select item 90921963.

AudioGene: Refining the Natural History of KCNQ4, GSDME, WFS1, and COCH-Associated Hearing Loss

Ryan K. Thorpe, W. Daniel Walls, Rae Corrigan, Amanda Schaefer, Kai Wang, Patrick Huygen, Thomas L. Casavant, Richard J.H. Smith

Hum Genet. Author manuscript; available in PMC 2022 May 11.

Published in final edited form as: Hum Genet. 2022 Apr; 141(3-4): 877–887. Published online 2022 Jan 17. doi: 10.1007/s00439-021-02424-7

PMCID:: PMC9092196

Article PDF–950K

Select item 89615304.

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

Article PDF–1.8M

Select item 85420865.

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

Article PDF–1.4M

Select item 82859726.

Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor

Eleni Leventea, Zhou Zhu, Xiaoming Fang, Yulia Nikolaeva, Eleanor Markham, Robert A. Hirst, Fredericus J. M. van Eeden, Jarema J. Malicki

Proc Natl Acad Sci U S A. 2021 Jul 13; 118(28): e2102562118. Published online 2021 Jul 8. doi: 10.1073/pnas.2102562118

PMCID:: PMC8285972

Article PDF–1.8M

Select item 78683737.

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

Article PDF–737K

Select item 75728178.

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

Article PDF–1018K

Select item 74139639.

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

Atreyee Basu, Nicole J. Boczek, Nahid G. Robertson, Samih H. Nasr, Daniel Jethanamest, Ellen D. McPhail, Paul J. Kurtin, Surendra Dasari, Malinda Butz, Cynthia C. Morton, W. Edward Highsmith, Fang Zhou

Head Neck Pathol. 2020 Sep; 14(3): 808–816. Published online 2019 Sep 6. doi: 10.1007/s12105-019-01073-7

PMCID:: PMC7413963

Article PDF–2.0M

Select item 589930310.

Bayesian quantification of sensory reweighting in a familial bilateral vestibular disorder (DFNA9)

Bart B. G. T. Alberts, Luc P. J. Selen, Wim I. M. Verhagen, Ronald J. E. Pennings, W. Pieter Medendorp

J Neurophysiol. 2018 Mar 1; 119(3): 1209–1221. Published online 2017 Dec 13. doi: 10.1152/jn.00082.2017

PMCID:: PMC5899303

Article

Select item 589150111.

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

Article PDF–500K

Select item 524312712.

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

Article PDF–1.3M

Select item 522303813.

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

Article PDF–668K

Select item 483378714.

Genetics of vestibular disorders: pathophysiological insights

Lidia Frejo, Ina Giegling, Roberto Teggi, Jose A. Lopez-Escamez, Dan Rujescu

J Neurol. 2016; 263: 45–53. Published online 2016 Apr 15. doi: 10.1007/s00415-015-7988-9

PMCID:: PMC4833787

Article PDF–435K

Select item 483358415.

Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9)

Barbara J. Burgess, Jennifer T. O’Malley, Takefumi Kamakura, Kris Kristiansen, Nahid G. Robertson, Cynthia C. Morton, Joseph B. Nadol, Jr.

Audiol Neurootol. Author manuscript; available in PMC 2017 Mar 30.

Published in final edited form as: Audiol Neurootol. 2016; 21(2): 88–97. Published online 2016 Mar 30. doi: 10.1159/000443822

PMCID:: PMC4833584

Article PDF–5.2M

Select item 438995816.

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

Article PDF–21M

Select item 437346917.

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

Article PDF–1.8M

Select item 436177518.

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

PMCID:: PMC4361775

Article PDF–1.6M

Select item 375855919.

Cochlin produced by follicular dendritic cells promotes anti-bacterial innate immunity

Bénédicte F. Py, Santiago F. Gonzalez, Kai Long, Mi-Sung Kim, Young-A Kim, Hong Zhu, Jianhua Yao, Nicolas Degauque, Régis Villet, Patrick Ymele-Leki, Mihaela Gadjeva, Gerald B. Pier, Michael C. Carroll, Junying Yuan

Immunity. Author manuscript; available in PMC 2014 May 23.

Published in final edited form as: Immunity. 2013 May 23; 38(5): 1063–1072. Published online 2013 May 16. doi: 10.1016/j.immuni.2013.01.015

PMCID:: PMC3758559

Article PDF–1.9M

Select item 332972420.

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