PMC Articles for MedGen (Select 321966) - PMC

Matias Morín, Lucía Borreguero, Kevin T Booth, María Lachgar, Patrick Huygen, Manuela Villamar, Fernando Mayo, Luis Carlos Barrio, Luciana Santos Serrão de Castro, Carmelo Morales, Ignacio del Castillo, Beatriz Arellano, Dolores Tellería, Richard J. H. Smith, Hela Azaiez, M. A. Moreno Pelayo

Sci Rep. 2020; 10: 6213. Published online 2020 Apr 10. doi: 10.1038/s41598-020-63256-5

PMCID:: PMC7148344

Article PDF–2.6M

Select item 70466594.

Prevalence and clinical features of hearing loss caused by EYA4 variants

Jun Shinagawa, Hideaki Moteki, Shin-ya Nishio, Kenji Ohyama, Koshi Otsuki, Satoshi Iwasaki, Shin Masuda, Chie Oshikawa, Yumi Ohta, Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Satoko Abe, Yuika Sakurai, Hirofumi Sakaguchi, Takashi Ishino, Natsumi Uehara, Shin-ichi Usami

Sci Rep. 2020; 10: 3662. Published online 2020 Feb 27. doi: 10.1038/s41598-020-60259-0

PMCID:: PMC7046659

Article PDF–1.7M

Select item 44485355.

A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness

Aiping Huang, Yongyi Yuan, Yanping Liu, Qingwen Zhu, Pu Dai

J Transl Med. 2015; 13: 154. Published online 2015 May 12. doi: 10.1186/s12967-015-0483-3

PMCID:: PMC4448535

Article PDF–2.4M

Select item 43634786.

Evaluation of the Contribution of the EYA4 and GRHL2 Genes in Korean Patients with Autosomal Dominant Non-Syndromic Hearing Loss

Ye-Ri Kim, Min-A Kim, Borum Sagong, Seung-Hyun Bae, Hyo-Jeong Lee, Hyung-Jong Kim, Jae Young Choi, Kyu-Yup Lee, Un-Kyung Kim

PLoS One. 2015; 10(3): e0119443. Published online 2015 Mar 17. doi: 10.1371/journal.pone.0119443

PMCID:: PMC4363478

Article PDF–867K

Select item 42143317.

Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non-syndromic hearing loss

MINXING TAN, XIAOFEI SHEN, JUN YAO, QINJUN WEI, YAJIE LU, XIN CAO, GUANGQIAN XING

Int J Mol Med. 2014 Dec; 34(6): 1467–1472. Published online 2014 Sep 19. doi: 10.3892/ijmm.2014.1939

PMCID:: PMC4214331

Article PDF–438K

Select item 38821458.

Eya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner ear

Dan Zou, Derek Silvius, Sandra Rodrigo-Blomqvist, Sven Enerbäck, Pin-Xian Xu

Dev Biol. Author manuscript; available in PMC 2014 Jan 6.

Published in final edited form as: Dev Biol. 2006 Oct 15; 298(2): 10.1016/j.ydbio.2006.06.049. Published online 2006 Jul 7. doi: 10.1016/j.ydbio.2006.06.049

PMCID:: PMC3882145

Article PDF–3.4M

Select item 91094019.

Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss

Weixun Zhang, Jing Song, Busheng Tong, Mengye Ma, Luo Guo, Yasheng Yuan, Juanmei Yang

BMC Med Genomics. 2022; 15: 113. Published online 2022 May 16. doi: 10.1186/s12920-022-01269-x

PMCID:: PMC9109401

Article PDF–1.0M

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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 853594011.

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants

Ken Hiramatsu, Shin-ya Nishio, Shin-ichiro Kitajiri, Tomohiro Kitano, Hideaki Moteki, Shin-ichi Usami, on behalf of the Deafness Gene Study Consortium

Genes (Basel) 2021 Oct; 12(10): 1623. Published online 2021 Oct 15. doi: 10.3390/genes12101623

PMCID:: PMC8535940

Article PDF–1.1M

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Identification of Homozygous Mutations for Hearing Loss

Mehdi Dianatpour, Emily Smith, Seyed Basir Hashemi, Mohammad A. Farazifard, Navid Nezafat, Vahid Razban, Arya Mani

Gene. Author manuscript; available in PMC 2022 Apr 30.

Published in final edited form as: Gene. 2021 Apr 30; 778: 145464. Published online 2021 Jan 29. doi: 10.1016/j.gene.2021.145464

PMCID:: PMC7987747

Article PDF–1.2M

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MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance

Supranee Thongpradit, Natini Jinawath, Asif Javed, Saisuda Noojarern, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Krisna Lertsukprasert, Bhoom Suktitipat, Laran T. Jensen, Duangrurdee Wattanasirichaigoon

Sci Rep. 2020; 10: 12712. Published online 2020 Jul 29. doi: 10.1038/s41598-020-69633-4

PMCID:: PMC7391749

Article PDF–2.4M

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Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity

Hongshun Wang, Changsong Lin, Jun Yao, Hairong Shi, Cui Zhang, Qinjun Wei, Yajie Lu, Zhibin Chen, Guangqian Xing, Xin Cao

Cell Death Dis. 2019 Sep; 10(9): 627. Published online 2019 Aug 19. doi: 10.1038/s41419-019-1858-9

PMCID:: PMC6700064

Article PDF–2.5M

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Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report

Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung

BMC Med Genet. 2017; 18: 151. Published online 2017 Dec 19. doi: 10.1186/s12881-017-0511-7

PMCID:: PMC5735594

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Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment

Hong-Yang Wang, Ya-Li Zhao, Qiong Liu, Hu Yuan, Yun Gao, Lan Lan, Lan Yu, Da-Yong Wang, Jing Guan, Qiu-Ju Wang

Chin Med J (Engl) 2015 Dec 20; 128(24): 3345–3351. doi: 10.4103/0366-6999.171440

PMCID:: PMC4797511

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Targeted Gene Capture and Massively Parallel Sequencing Identify TMC1 as the Causative Gene in a Six-generation Chinese Family with Autosomal Dominant Hearing Loss

Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Guo-Jian Wang, Jin-Cao Xu, Yu-Bin Ji, Ming-Yu Han, Fei Yu, Dong-Yang Kang, Xi Lin, Pu Dai

Am J Med Genet A. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Am J Med Genet A. 2015 Oct; 167(10): 2357–2365. Published online 2015 Jun 16. doi: 10.1002/ajmg.a.37206

PMCID:: PMC4567392

Article PDF–786K

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Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family

Juanjuan Gao, Qi Wang, Cheng Dong, Siqi Chen, Yu Qi, Yuhe Liu

PLoS One. 2015; 10(7): e0133522. Published online 2015 Jul 21. doi: 10.1371/journal.pone.0133522

PMCID:: PMC4510057

Article PDF–4.3M

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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