A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60-Reference-Cited by-同舟云学术

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A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60

Published:2016-03-29 Issue:5 Volume:135 Page:513-524
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Ben Said Mariem,Grati M’hamed,Ishimoto Takahiro,Zou Bing,Chakchouk Imen,Ma Qi,Yao Qi,Hammami Bouthaina,Yan Denise,Mittal Rahul,Nakamichi Noritaka,Ghorbel Abdelmonem,Neng Lingling,Tekin Mustafa,Shi Xiao Rui,Kato Yukio,Masmoudi Saber,Lu Zhongmin,Hmani Mounira,Liu Xuezhong

Funder

Office of Extramural Research, National Institutes of Health

the University of Miami Provost Research Award, and the College of Arts and Sciences Gabelli Fellowship

funds from the ICGEB (International Centre for Genetic Engineering and Biotechnology) and the Ministry of Higher Education and Research of Tunisia

Grant-in-Aid of Scientific Research (B) from the Japanese Ministry of Education, Science and Culture

Hoansha Foundation

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s00439-016-1657-7/fulltext.html

Reference30 articles.

1. Ben Arab S, Masmoudi S, Beltaief N, Hachicha S, Ayadi H (2004) Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness. Genet Epidemiol 27:74–79

2. Bleasby K, Castle JC, Roberts CJ, Cheng C, Bailey WJ, Sina JF, Kulkarni AV, Hafey MJ, Evers R, Johnson JM et al (2006) Expression profiles of 50 xenobiotic transporter genes in humans and pre-clinical species: a resource for investigations into drug disposition. Xenobiotica 36:963–988

3. Chakchouk I, Ben Said M, Jbeli F, Benmarzoug R, Loukil S, Smeti I, Chakroun A, Gibriel AA, Ghorbel A, Hadjkacem H et al (2015) NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries. J Mol Diagn 17:155–161

4. Cheah IK, Ong RL, Gruber J, Yew TS, Ng LF, Chen CB, Halliwell B (2013) Knockout of a putative ergothioneine transporter in Caenorhabditis elegans decreases lifespan and increases susceptibility to oxidative damage. Free Radic Res 47:1036–1045

5. Clerici WJ, Hensley K, DiMartino DL, Butterfield DA (1996) Direct detection of ototoxicant-induced reactive oxygen species generation in cochlear explants. Hear Res 98:116–124

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