Abstract

We have identified a novel family of genes in which mutations can cause hereditary hearing loss in humans. We have characterized the genetic epidemiology of deafness caused by mutations in the Pendred syndrome in far east Asian individuals.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Intramural Research (Z01)
Project #
1Z01DC000060-01
Application #
6531866
Study Section
Health Services Research Initial Review Group (HS)
Project Start
Project End
Budget Start
Budget End
Support Year
1
Fiscal Year
2001
Total Cost
Indirect Cost

  Institution

Name
Deafness & Other Communication Disorders
Department
Type
DUNS #
City
State
Country
United States
Zip Code

  Publications

Nakanishi, Hiroshi; Kurima, Kiyoto; Pan, Bifeng et al. (2018) Tmc2 expression partially restores auditory function in a mouse model of DFNB7/B11 deafness caused by loss of Tmc1 function. Sci Rep 8:12125
Nakanishi, Hiroshi; Kawashima, Yoshiyuki; Kurima, Kiyoto et al. (2018) Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation. Otol Neurotol 39:e181-e185
Rose, Jane; Muskett, Julie A; King, Kelly A et al. (2017) Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4. Laryngoscope 127:E238-E243
Trepiccione, Francesco; Soukaseum, Christelle; Baudrie, Veronique et al. (2017) Acute genetic ablation of pendrin lowers blood pressure in mice. Nephrol Dial Transplant 32:1137-1145
Chattaraj, Parna; Munjal, Tina; Honda, Keiji et al. (2017) A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct. J Med Genet 54:665-673
Honda, Keiji; Kim, Sung Huhn; Kelly, Michael C et al. (2017) Molecular architecture underlying fluid absorption by the developing inner ear. Elife 6:
Nakanishi, Hiroshi; Kawashima, Yoshiyuki; Kurima, Kiyoto et al. (2017) NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy. Proc Natl Acad Sci U S A 114:E7766-E7775
Rehman, A U; Friedman, T B; Griffith, A J (2017) Unresolved questions regarding human hereditary deafness. Oral Dis 23:551-558
Isgrig, Kevin; Shteamer, Jack W; Belyantseva, Inna A et al. (2017) Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome. Mol Ther 25:780-791
Nishio, Ayako; Ito, Taku; Cheng, Hui et al. (2016) Slc26a4 expression prevents fluctuation of hearing in a mouse model of large vestibular aqueduct syndrome. Neuroscience 329:74-82

Showing the most recent 10 out of 76 publications