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Your search keyword '"Riazuddin, Saima"' showing total 5 results
Start Over Author "Riazuddin, Saima" Journal nature genetics
5 results on '"Riazuddin, Saima"'

1. Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Author

Riazuddin, Saima, Belyantseva, Inna A, Giese, Arnaud P J, Lee, Kwanghyuk, Indzhykulian, Artur A, Nandamuri, Sri Pratima, Yousaf, Rizwan, Sinha, Ghanshyam P, Lee, Sue, Terrell, David, Hegde, Rashmi S, Ali, Rana A, Anwar, Saima, Andrade-Elizondo, Paula B, Sirmaci, Asli, Parise, Leslie V, Basit, Sulman, Wali, Abdul, Ayub, Muhammad, Ansar, Muhammad, Ahmad, Wasim, Khan, Shaheen N, Akram, Javed, Tekin, Mustafa, Riazuddin, Sheikh, Cook, Tiffany, Buschbeck, Elke K, Frolenkov, Gregory I, Leal, Suzanne M, Friedman, Thomas B, and Ahmed, Zubair M

Published
2012
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2. Rare A2ML1 variants confer susceptibility to otitis media.

Author

Santos-Cortez, Regie Lyn P, Wang, Xin, Acharya, Anushree, Abbe, Izoduwa, Li, Biao, Wang, Gao T, Leal, Suzanne M, Patel, Janak A, Chonmaitree, Tasnee, Sale, Michele M, Chiong, Charlotte M, Reyes-Quintos, Ma Rina T, Llanes, Erasmo Gonzalo D V, Gloria-Cruz, Teresa Luisa I, Chan, Abner L, Abes, Generoso T, Tantoco, Ma Leah C, Giese, Arnaud P, Riazuddin, Saima, and Ahmed, Zubair M

Subjects
PATHOLOGICAL physiology, OTITIS media, HAPLOTYPES, DNA, PROTEASE inhibitors
Abstract

A duplication variant within the middle ear-specific gene A2ML1 cosegregates with otitis media in an indigenous Filipino pedigree (LOD score = 7.5 at reduced penetrance) and lies within a founder haplotype that is also shared by 3 otitis-prone European-American and Hispanic-American children but is absent in non-otitis-prone children and >62,000 next-generation sequences. We identified seven additional A2ML1 variants in six otitis-prone children. Collectively, our studies support a role for A2ML1 in the pathophysiology of otitis media. [ABSTRACT FROM AUTHOR]

Published
2015
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3. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

Author

Ahmed, Zubair M, primary, Masmoudi, Saber, additional, Kalay, Ersan, additional, Belyantseva, Inna A, additional, Mosrati, Mohamed Ali, additional, Collin, Rob W J, additional, Riazuddin, Saima, additional, Hmani-Aifa, Mounira, additional, Venselaar, Hanka, additional, Kawar, Mayya N, additional, Tlili, Abdelaziz, additional, van der Zwaag, Bert, additional, Khan, Shahid Y, additional, Ayadi, Leila, additional, Riazuddin, S Amer, additional, Morell, Robert J, additional, Griffith, Andrew J, additional, Charfedine, Ilhem, additional, Çaylan, Refik, additional, Oostrik, Jaap, additional, Karaguzel, Ahmet, additional, Ghorbel, Abdelmonem, additional, Riazuddin, Sheikh, additional, Friedman, Thomas B, additional, Ayadi, Hammadi, additional, and Kremer, Hannie, additional

Published
2008
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4. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

Author

Kurima, Kiyoto, primary, Peters, Linda M., additional, Yang, Yandan, additional, Riazuddin, Saima, additional, Ahmed, Zubair M., additional, Naz, Sadaf, additional, Arnaud, Deidre, additional, Drury, Stacy, additional, Mo, Jianhong, additional, Makishima, Tomoko, additional, Ghosh, Manju, additional, Menon, P.S.N., additional, Deshmukh, Dilip, additional, Oddoux, Carole, additional, Ostrer, Harry, additional, Khan, Shaheen, additional, Riazuddin, Sheikh, additional, Deininger, Prescott L., additional, Hampton, Lori L., additional, Sullivan, Susan L., additional, Battey, James F., additional, Keats, Bronya J.B., additional, Wilcox, Edward R., additional, Friedman, Thomas B., additional, and Griffith, Andrew J., additional

Published
2002
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5. Dominant modifier DFNM1 suppresses recessive deafness DFNB26

Author

Riazuddin, Saima, primary, Castelein, Caley M., additional, Ahmed, Zubair M., additional, Lalwani, Anil K., additional, Mastroianni, Mary A., additional, Naz, Sadaf, additional, Smith, Tenesha N., additional, Liburd, Nikki A., additional, Friedman, Thomas B., additional, Griffith, Andrew J., additional, Riazuddin, Sheikh, additional, and Wilcox, Edward R., additional

Published
2000
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