Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening-Reference-Cited by-同舟云学术

Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening

Published:2014-01-09 Issue:2 Volume:59 Page:100-106
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Yano Takuya, ,Nishio Shin-ya,Usami Shin-ichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg2013128.pdf

Reference34 articles.

1. Jacobs, H. T., Hutchin, T. P., Kappi, T., Gillies, G., Minkkinen, K., Walker, J. et al. Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur. J. Hum. Genet. 13, 26–33 (2005).

2. Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Oztas, S., Qiu, W. Q. et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 4, 289–294 (1993).

3. Fischel-Ghodsian, N., Prezant, T. R., Bu, X. & Oztas, S. Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity. Am. J. Otolaryngol. 14, 399–403 (1993).

4. Usami, S., Abe, S., Akita, J., Namba, A., Shinkawa, H., Ishii, M. et al. Prevalence of mitochondrial gene mutations among hearing impaired patients. J. Med. Genet. 37, 38–40 (2000).

5. Zhao, H., Li, R., Wang, Q., Yan, Q., Deng, J. H., Han, D. et al. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am. J. Hum. Genet. 74, 139–152 (2004).

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Transfer RNA Mutation Associated with Type 2 Diabetes Mellitus;Biology;2023-06-16

2. Structural analysis of mitochondrial rRNA gene variants identified in patients with deafness;Frontiers in Physiology;2023-06-08

3. A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options;Clinical Genetics;2022-09-29

4. Long-Term Progression and Rapid Decline in Hearing Loss in Patients with a Point Mutation at Nucleotide 3243 of the Mitochondrial DNA;Life;2022-04-06

5. Screening for Mitochondrial tRNA Mutations in 318 Patients with Dilated Cardiomyopathy;Human Heredity;2022