A
Andrew J. Griffith
Researcher at National Institutes of Health
Publications - 143
Citations - 11341
Andrew J. Griffith is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Hearing loss & Sensorineural hearing loss. The author has an hindex of 54, co-authored 139 publications receiving 10254 citations. Previous affiliations of Andrew J. Griffith include University of Tennessee Health Science Center & Yale University.
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Journal ArticleDOI
Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23
Julie M. Bork,Linda M. Peters,Saima Riazuddin,Saima Riazuddin,S. L. Bernstein,Zubair M. Ahmed,Zubair M. Ahmed,Seth L. Ness,Robert C. Polomeno,Arabandi Ramesh,Arabandi Ramesh,Melvin D. Schloss,C. R. Srikumari Srisailpathy,C. R. Srikumari Srisailpathy,Sigrid Wayne,Susan Bellman,Dilip Desmukh,Zahoor Ahmed,Shaheen N. Khan,Vazken M. Der Kaloustian,X. Cindy Li,Anil K. Lalwani,Sheikh Riazuddin,Maria Bitner-Glindzicz,Walter E. Nance,Xue-Zhong Liu,Graeme Wistow,Richard J.H. Smith,Andrew J. Griffith,Edward R. Wilcox,Thomas B. Friedman,Robert J. Morell +31 more
TL;DR: Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously mapped to overlapping regions of chromosome 10q21-q22, but mutations in a novel cadherin-like gene, CDH23, were found both in families with DFNB12 and in Families with USH1D.
Journal ArticleDOI
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.
Edward R. Wilcox,Quianna Burton,Sadaf Naz,Saima Riazuddin,Saima Riazuddin,Tenesha N. Smith,Barbara Ploplis,Inna A. Belyantseva,Tamar Ben-Yosef,Nikki A. Liburd,Robert J. Morell,Bechara Kachar,Doris K. Wu,Andrew J. Griffith,Sheikh Riazuddin,Thomas B. Friedman +15 more
TL;DR: In situ hybridization and immunofluorescence studies demonstrated mouse claudin-14 expression in the sensory epithelium of the organ of Corti and demonstrated tight junctions in the cochlear duct.
Journal ArticleDOI
Dominant and recessive deafness caused by mutations of a novel gene, TMC1 , required for cochlear hair-cell function
Kiyoto Kurima,Linda M. Peters,Yandan Yang,Saima Riazuddin,Zubair M. Ahmed,Sadaf Naz,Deidre Arnaud,Stacy S. Drury,Jianhong Mo,Tomoko Makishima,Manju Ghosh,P. S N Menon,Dilip Deshmukh,Carole Oddoux,Harry Ostrer,Shaheen N. Khan,Sheikh Riazuddin,Prescott L. Deininger,Lori L. Hampton,Susan L. Sullivan,James F. Battey,Bronya J B Keats,Edward R. Wilcox,Thomas B. Friedman,Andrew J. Griffith +24 more
TL;DR: A locus for dominant deafness is reported, DFNA36, which maps to human chromosome 9q13–21 in a region overlapping the DFNB7/B11 locusfor recessive deafness, and eight mutations in a new gene, transmembrane cochlear-expressed gene 1 (TMC1), are identified.
Journal ArticleDOI
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.
Zubair M. Ahmed,Saima Riazuddin,S. L. Bernstein,Zahoor Ahmed,Shaheen N. Khan,Andrew J. Griffith,Robert J. Morell,Thomas B. Friedman,Sheikh Riazuddin,Edward R. Wilcox +9 more
TL;DR: Two mutations of protocadherin 15 (PCDH15) found in two families segregating Usher syndrome type 1F are reported, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F.
Journal ArticleDOI
Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes
Yoshiyuki Kawashima,Gwenaëlle S. G. Géléoc,Gwenaëlle S. G. Géléoc,Kiyoto Kurima,Valentina Labay,Valentina Labay,Andrea Lelli,Andrea Lelli,Yukako Asai,Yukako Asai,Tomoko Makishima,Doris K. Wu,Charles C. Della Santina,Jeffrey R. Holt,Jeffrey R. Holt,Andrew J. Griffith +15 more
TL;DR: The results indicate that TMC1 and TMC2 are necessary for hair cell mechanotransduction and may be integral components of the mechanot Transmembrane channel-like 1 complex and suggest that persistent Tmc2 expression in vestibular hair cells may preserve Vestibular function in humans with hearing loss caused by Tmc1 mutations.