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Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.
Kim SY, Kim AR, Kim NK, Lee C, Han JH, Kim MY, Jeon EH, Park WY, Mittal R, Yan D, Liu XZ, Choi BY. Kim SY, et al. Among authors: mittal r. J Gene Med. 2016 Nov;18(11-12):353-358. doi: 10.1002/jgm.2935. J Gene Med. 2016. PMID: 27886419 Free PMC article.
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
Diaz-Horta O, Subasioglu-Uzak A, Grati M, DeSmidt A, Foster J 2nd, Cao L, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Abad C, Mittal R, Blanton S, Liu XZ, Farooq A, Walz K, Lu Z, Tekin M. Diaz-Horta O, et al. Among authors: mittal r. Proc Natl Acad Sci U S A. 2014 Jul 8;111(27):9864-8. doi: 10.1073/pnas.1401950111. Epub 2014 Jun 23. Proc Natl Acad Sci U S A. 2014. PMID: 24958875 Free PMC article.
Role of innate immunity in the pathogenesis of otitis media.
Mittal R, Kodiyan J, Gerring R, Mathee K, Li JD, Grati M, Liu XZ. Mittal R, et al. Int J Infect Dis. 2014 Dec;29:259-67. doi: 10.1016/j.ijid.2014.10.015. Epub 2014 Nov 5. Int J Infect Dis. 2014. PMID: 25447732 Free PMC article. Review.
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
Grati M, Chakchouk I, Ma Q, Bensaid M, Desmidt A, Turki N, Yan D, Baanannou A, Mittal R, Driss N, Blanton S, Farooq A, Lu Z, Liu XZ, Masmoudi S. Grati M, et al. Among authors: mittal r. Hum Mol Genet. 2015 May 1;24(9):2482-91. doi: 10.1093/hmg/ddv009. Epub 2015 Jan 18. Hum Mol Genet. 2015. PMID: 25601850 Free PMC article.
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ. Chakchouk I, et al. Among authors: mittal r. Mol Genet Genomics. 2015 Aug;290(4):1327-34. doi: 10.1007/s00438-015-0995-9. Epub 2015 Jan 30. Mol Genet Genomics. 2015. PMID: 25633957 Free PMC article.
Association of PRPS1 Mutations with Disease Phenotypes.
Mittal R, Patel K, Mittal J, Chan B, Yan D, Grati M, Liu XZ. Mittal R, et al. Among authors: mittal j. Dis Markers. 2015;2015:127013. doi: 10.1155/2015/127013. Epub 2015 May 24. Dis Markers. 2015. PMID: 26089585 Free PMC article. Review.
Current concepts in the pathogenesis and treatment of chronic suppurative otitis media.
Mittal R, Lisi CV, Gerring R, Mittal J, Mathee K, Narasimhan G, Azad RK, Yao Q, Grati M, Yan D, Eshraghi AA, Angeli SI, Telischi FF, Liu XZ. Mittal R, et al. Among authors: mittal j. J Med Microbiol. 2015 Oct;64(10):1103-1116. doi: 10.1099/jmm.0.000155. Epub 2015 Aug 5. J Med Microbiol. 2015. PMID: 26248613 Free PMC article. Review.
1,585 results