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Items: 19

Select item 72536641.

Cochlear Implantation Outcomes in Patients With OTOF Mutations

Dandan Zheng, Xiao Liu

Front Neurosci. 2020; 14: 447. Published online 2020 May 21. doi: 10.3389/fnins.2020.00447

PMCID:: PMC7253664

Abstract Article PDF–596K

Select item 66734802.

A Forward Genetics Screen in Mice Identifies Recessive Deafness Traits and Reveals That Pejvakin Is Essential for Outer Hair Cell Function

Martin Schwander, Anna Sczaniecka, Nicolas Grillet, Janice S. Bailey, Matthew Avenarius, Hossein Najmabadi, Brian M. Steffy, Glenn C. Federe, Erica A. Lagler, Raheleh Banan, Rudy Hice, Laura Grabowski-Boase, Elisabeth M. Keithley, Allen F. Ryan, Gary D. Housley, Tim Wiltshire, Richard J. H. Smith, Lisa M. Tarantino, Ulrich Müller

J Neurosci. 2007 Feb 28; 27(9): 2163–2175. doi: 10.1523/JNEUROSCI.4975-06.2007

PMCID:: PMC6673480

Abstract Article PDF–949K

Select item 65220173.

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients

Yoh-ichiro Iwasa, Shin-ya Nishio, Akiko Sugaya, Yuko Kataoka, Yukihiko Kanda, Mirei Taniguchi, Kyoko Nagai, Yasushi Naito, Tetsuo Ikezono, Rie Horie, Yuika Sakurai, Rina Matsuoka, Hidehiko Takeda, Satoko Abe, Chiharu Kihara, Takashi Ishino, Shin-ya Morita, Satoshi Iwasaki, Masahiro Takahashi, Tsukasa Ito, Yasuhiro Arai, Shin-ichi Usami

PLoS One. 2019; 14(5): e0215932. Published online 2019 May 16. doi: 10.1371/journal.pone.0215932

PMCID:: PMC6522017

Abstract Article PDF–513K

Select item 64107744.

Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model

Omar Akil, Frank Dyka, Charlotte Calvet, Alice Emptoz, Ghizlene Lahlou, Sylvie Nouaille, Jacques Boutet de Monvel, Jean-Pierre Hardelin, William W. Hauswirth, Paul Avan, Christine Petit, Saaid Safieddine, Lawrence R. Lustig

Proc Natl Acad Sci U S A. 2019 Mar 5; 116(10): 4496–4501. Published online 2019 Feb 19. doi: 10.1073/pnas.1817537116

PMCID:: PMC6410774

Abstract Article PDF–1.6M

Select item 63289165.

A dual‐AAV approach restores fast exocytosis and partially rescues auditory function in deaf otoferlin knock‐out mice

Hanan Al‐Moyed, Andreia P Cepeda, SangYong Jung, Tobias Moser, Sebastian Kügler, Ellen Reisinger

EMBO Mol Med. 2019 Jan; 11(1): e9396. Published online 2018 Dec 3. doi: 10.15252/emmm.201809396

PMCID:: PMC6328916

Abstract Article PDF–1.2M

Select item 62607606.

Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics

Bong Jik Kim, Jeong Hun Jang, Jin Hee Han, Hye-Rim Park, Doo Yi Oh, Seungmin Lee, Min Young Kim, Ah Reum Kim, Chung Lee, Nayoung K. D. Kim, Woong-Yang Park, Yun-Hoon Choung, Byung Yoon Choi

J Transl Med. 2018; 16: 330. Published online 2018 Nov 27. doi: 10.1186/s12967-018-1708-z

PMCID:: PMC6260760

Abstract Article PDF–1.7M

Select item 61743557.

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

Hela Azaiez, Kevin T. Booth, Sean S. Ephraim, Bradley Crone, Elizabeth A. Black-Ziegelbein, Robert J. Marini, A. Eliot Shearer, Christina M. Sloan-Heggen, Diana Kolbe, Thomas Casavant, Michael J. Schnieders, Carla Nishimura, Terry Braun, Richard J.H. Smith

Am J Hum Genet. 2018 Oct 4; 103(4): 484–497. Published online 2018 Sep 20. doi: 10.1016/j.ajhg.2018.08.006

PMCID:: PMC6174355

Abstract Article PDF–3.5M

Select item 57008158.

Otoferlin acts as a Ca²⁺ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses

Nicolas Michalski, Juan D Goutman, Sarah Marie Auclair, Jacques Boutet de Monvel, Margot Tertrais, Alice Emptoz, Alexandre Parrin, Sylvie Nouaille, Marc Guillon, Martin Sachse, Danica Ciric, Amel Bahloul, Jean-Pierre Hardelin, Roger Bryan Sutton, Paul Avan, Shyam S Krishnakumar, James E Rothman, Didier Dulon, Saaid Safieddine, Christine Petit

eLife. 2017; 6: e31013. Published online 2017 Nov 7. doi: 10.7554/eLife.31013

PMCID:: PMC5700815

Abstract Article PDF–4.9M

Select item 54293609.

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, David N. Cooper

Hum Genet. 2017; 136(6): 665–677. Published online 2017 Mar 27. doi: 10.1007/s00439-017-1779-6

PMCID:: PMC5429360

Abstract Article PDF–1.1M

Select item 528360310.

Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants

Nicola Strenzke, Rituparna Chakrabarti, Hanan Al‐Moyed, Alexandra Müller, Gerhard Hoch, Tina Pangrsic, Gulnara Yamanbaeva, Christof Lenz, Kuan‐Ting Pan, Elisabeth Auge, Ruth Geiss‐Friedlander, Henning Urlaub, Nils Brose, Carolin Wichmann, Ellen Reisinger

EMBO J. 2016 Dec 1; 35(23): 2519–2535. Published online 2016 Oct 11. doi: 10.15252/embj.201694564

PMCID:: PMC5283603

Abstract Article PDF–2.8M

Select item 505896411.

Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications

Mun Young Chang, Ah Reum Kim, Nayoung K.D. Kim, Chung Lee, Woong-Yang Park, Byung Yoon Choi

Medicine (Baltimore) 2015 Nov; 94(47): e1996. Published online 2015 Oct 30. doi: 10.1097/MD.0000000000001996

PMCID:: PMC5058964

Abstract Article PDF–1.2M

Select item 479632012.

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Christina M. Sloan-Heggen, Amanda O. Bierer, A. Eliot Shearer, Diana L. Kolbe, Carla J. Nishimura, Kathy L. Frees, Sean S. Ephraim, Seiji B. Shibata, Kevin T. Booth, Colleen A. Campbell, Paul T. Ranum, Amy E. Weaver, E. Ann Black-Ziegelbein, Donghong Wang, Hela Azaiez, Richard J. H. Smith

Hum Genet. 2016; 135: 441–450. Published online 2016 Mar 11. doi: 10.1007/s00439-016-1648-8

PMCID:: PMC4796320

Abstract Article PDF–529K

Select item 451873513.

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

Liang Zong, Jing Guan, Megan Ealy, Qiujing Zhang, Dayong Wang, Hongyang Wang, Yali Zhao, Zhirong Shen, Colleen A Campbell, Fengchao Wang, Ju Yang, Wei Sun, Lan Lan, Dalian Ding, Linyi Xie, Yue Qi, Xin Lou, Xusheng Huang, Qiang Shi, Suhua Chang, Wenping Xiong, Zifang Yin, Ning Yu, Hui Zhao, Jun Wang, Jing Wang, Richard J Salvi, Christine Petit, Richard J H Smith, Qiuju Wang

J Med Genet. 2015 Aug; 52(8): 523–531. Published online 2015 May 18. doi: 10.1136/jmedgenet-2014-102961

PMCID:: PMC4518735

Abstract Article PDF–5.9M

Select item 374554814.

PECONPI: A Novel Software for Uncovering Pathogenic Copy Number Variations in Non-Syndromic Sensorineural Hearing Loss and Other Genetically Heterogeneous Disorders

Ellen A Tsai, Micah A Berman, Laura K Conlin, Heidi L Rehm, Lauren J Francey, Matthew A Deardorff, Jenelle Holst, Maninder Kaur, Emily Gallant, Dinah M Clark, Joseph T Glessner, Shane T Jensen, Struan FA Grant, Peter J Gruber, Hakon Hakonarson, Nancy B Spinner, Ian D Krantz

Am J Med Genet A. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Am J Med Genet A. 2013 Sep; 161(9): 2134–2147. Published online 2013 Jul 29. doi: 10.1002/ajmg.a.36038

PMCID:: PMC3745548

Abstract Article PDF–1.2M

Select item 346157915.

Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan

BY Choi, ZM Ahmed, S Riazuddin, MA Bhinder, M Shahzad, T Husnain, S Riazuddin, AJ Griffith, TB Friedman

Clin Genet. Author manuscript; available in PMC 2012 Oct 1.

Published in final edited form as: Clin Genet. 2009 Mar; 75(3): 237–243. doi: 10.1111/j.1399-0004.2008.01128.x

PMCID:: PMC3461579

Abstract Article PDF–1.0M

Select item 292351516.

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins

Angela Lek, Monkol Lek, Kathryn N North, Sandra T Cooper

BMC Evol Biol. 2010; 10: 231. Published online 2010 Jul 29. doi: 10.1186/1471-2148-10-231

PMCID:: PMC2923515

Abstract Article PDF–7.1M

Select item 290121317.

Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy

Da-Yong Wang, Yi-Chen Wang, Dominique Weil, Ya-Li Zhao, Shao-Qi Rao, Liang Zong, Yu-Bin Ji, Qiong Liu, Jian-Qiang Li, Huan-Ming Yang, Yan Shen, Cindy Benedict-Alderfer, Qing-Yin Zheng, Christine Petit, Qiu-Ju Wang

BMC Med Genet. 2010; 11: 79. Published online 2010 May 26. doi: 10.1186/1471-2350-11-79