PMC Articles for MedGen (Select 322209) - PMC

Select item 33760861.

2E4/Kaptin (KPTN) – a candidate gene for the hearing loss locus, DFNA4

E. L. BEARER, A. F. CHEN, A. H. CHEN, Z. LI, H.-F. MARK, R. J. H. SMITH, C. L. JACKSON

Ann Hum Genet. Author manuscript; available in PMC 2012 Jun 15.

Published in final edited form as: Ann Hum Genet. 2000 May; 64(Pt 3): 189–196. doi: 10.1046/j.1469-1809.2000.6430189.x

PMCID:: PMC3376086

Select item 11819552.

Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)

Francesca Donaudy, Rik Snoeckx, Markus Pfister, Hans-Peter Zenner, Nikolaus Blin, Mariateresa Di Stazio, Antonella Ferrara, Carmen Lanzara, Romina Ficarella, Frank Declau, Carsten M. Pusch, Peter Nürnberg, Salvatore Melchionda, Leopoldo Zelante, Ester Ballana, Xavier Estivill, Guy Van Camp, Paolo Gasparini, Anna Savoia

Am J Hum Genet. 2004 Apr; 74(4): 770–776. Published online 2004 Mar 10. doi: 10.1086/383285

PMCID:: PMC1181955

Article PDF–371K

Select item 73820483.

A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss

Mingming Wang, Yicui Zhou, Fengguo Zhang, Zhaomin Fan, Xiaohui Bai, Haibo Wang

BMC Med Genet. 2020; 21: 154. Published online 2020 Jul 25. doi: 10.1186/s12881-020-01086-y

PMCID:: PMC7382048

Article PDF–1.8M

Select item 52156404.

Loss of Myh14 Increases Susceptibility to Noise-Induced Hearing Loss in CBA/CaJ Mice

Xiaolong Fu, Linqing Zhang, Yecheng Jin, Xiaoyang Sun, Aizhen Zhang, Zongzhuang Wen, Yichen Zhou, Ming Xia, Jiangang Gao

Neural Plast. 2016; 2016: 6720420. Published online 2016 Dec 22. doi: 10.1155/2016/6720420

PMCID:: PMC5215640

Article PDF–4.8M

Select item 43750195.

Exome Sequencing Identifies a Novel CEACAM16 Mutation Associated with Autosomal Dominant Nonsyndromic Hearing Loss DFNA4B in a Chinese Family

Honghan Wang, Xinwei Wang, Chufeng He, Haibo Li, Jie Qing, Mhamed Grati, Zhengmao Hu, Jiada Li, Yiqiao Hu, Kun Xia, Lingyun Mei, Xingwei Wang, Jianjun Yu, Hongsheng Chen, Lu Jiang, Yalan Liu, Meichao Men, Hailin Zhang, Liping Guan, Jingjing Xiao, Jianguo Zhang, Xuezhong Liu, Yong Feng

J Hum Genet. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: J Hum Genet. 2015 Mar; 60(3): 119–126. Published online 2015 Jan 15. doi: 10.1038/jhg.2014.114

PMCID:: PMC4375019

Article PDF–1.4M

Select item 33811246.

Loss of Mammal-specific Tectorial Membrane Component Carcinoembryonic Antigen Cell Adhesion Molecule 16 (CEACAM16) Leads to Hearing Impairment at Low and High Frequencies

Robert Kammerer, Lukas Rüttiger, Rainer Riesenberg, Constanze Schäuble, Rosemarie Krupar, Annegret Kamp, Kishiko Sunami, Andreas Eisenried, Martin Hennenberg, Fritz Grunert, Andreas Bress, Sebastiano Battaglia, Heinrich Schrewe, Marlies Knipper, Marlon R. Schneider, Wolfgang Zimmermann

J Biol Chem. 2012 Jun 22; 287(26): 21584–21598. Published online 2012 Apr 27. doi: 10.1074/jbc.M111.320481

PMCID:: PMC3381124

Article PDF–4.0M

Select item 31036327.

A Complex Phenotype of Peripheral Neuropathy, Myopathy, Hoarseness and Hearing Loss is Linked to an Autosomal Dominant Mutation in MYH14

Byung-Ok Choi, Sung Hee Kang, Young Se Hyun, Sumaria Kanwal, Sun Wha Park, Heasoo Koo, Sang-Beom Kim, Young-Chul Choi, Jeong Hyun Yoo, Jong-Won Kim, Kee Duk Park, Kyoung-Gyu Choi, Song Ja Kim, Stephan Züchner, Ki Wha Chung

Hum Mutat. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Hum Mutat. 2011 Jun; 32(6): 669–677. Published online 2011 Apr 7. doi: 10.1002/humu.21488

PMCID:: PMC3103632

Article PDF–932K

Select item 30540088.

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with α-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)

Jing Zheng, Katharine K. Miller, Tao Yang, Michael S. Hildebrand, A. Eliot Shearer, Adam P. DeLuca, Todd E. Scheetz, Jennifer Drummond, Steve E. Scherer, P. Kevin Legan, Richard J. Goodyear, Guy P. Richardson, Mary Ann Cheatham, Richard J. Smith, Peter Dallos

Proc Natl Acad Sci U S A. 2011 Mar 8; 108(10): 4218–4223. Published online 2011 Feb 22. doi: 10.1073/pnas.1005842108

PMCID:: PMC3054008

Article PDF–922K

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