PMC Articles for MedGen (Select 330834) - PMC

Select item 17352151.

A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter

S Blanton, C Liang, M Cai, A Pandya, L Du L, B Landa, S Mummalanni, K Li, Z Chen, X Qin, Y Liu, T Balkany, W Nance, X Liu

J Med Genet. 2002 Aug; 39(8): 567–570. doi: 10.1136/jmg.39.8.567

PMCID:: PMC1735215

Summary PDF–243K

Select item 68426322.

Hearing loss mutations alter the functional properties of human P2X2 receptor channels through distinct mechanisms

Benjamin George, Kenton J. Swartz, Mufeng Li

Proc Natl Acad Sci U S A. 2019 Nov 5; 116(45): 22862–22871. Published online 2019 Oct 21. doi: 10.1073/pnas.1912156116

PMCID:: PMC6842632

Article PDF–1.9M

Select item 35683713.

Mutation of the ATP-gated P2X₂ receptor leads to progressive hearing loss and increased susceptibility to noise

Denise Yan, Yan Zhu, Tom Walsh, Dinghua Xie, Huijun Yuan, Asli Sirmaci, Taro Fujikawa, Ann Chi Yan Wong, Tze L. Loh, Lilin Du, M’hamed Grati, Srdjan M. Vlajkovic, Susan Blanton, Allen F. Ryan, Zheng-Yi Chen, Peter R. Thorne, Bechara Kachar, Mustafa Tekin, Hong-Bo Zhao, Gary D. Housley, Mary-Claire King, Xue Z. Liu

Proc Natl Acad Sci U S A. 2013 Feb 5; 110(6): 2228–2233. Published online 2013 Jan 23. doi: 10.1073/pnas.1222285110

PMCID:: PMC3568371

Article PDF–1.0M

Select item 86181074.

A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population

Ting-Ting Yen, I-Chieh Chen, Men-Wei Hua, Chia-Yi Wei, Kai-Hsiang Shih, Jui-Lin Li, Ching-Heng Lin, Tzu-Hung Hsiao, Yi-Ming Chen, Rong-San Jiang

Genes (Basel) 2021 Nov; 12(11): 1711. Published online 2021 Oct 27. doi: 10.3390/genes12111711

PMCID:: PMC8618107

Article PDF–1.1M

Select item 84876805.

Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss

Reza Azizi Malamiri, Javad Mohammadi Asl, Farideh Ghanbari

Iran Biomed J. 2021 Sep; 25(5): 368–373. Published online 2021 Jul 13. doi: 10.52547/ibj.25.5.368

PMCID:: PMC8487680

Article PDF–878K

Select item 81708436.

Generation and characterization of a P2rx2 V60L mouse model for DFNA41

Xiaoya Chen, Clemer Abad, Zheng-yi Chen, Juan I Young, Channabasavaiah B Gurumurthy, Katherina Walz, Xue Zhong Liu

Hum Mol Genet. 2021 Jun 1; 30(11): 985–995. Published online 2021 Mar 31. doi: 10.1093/hmg/ddab077

PMCID:: PMC8170843

Article PDF–1.3M

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