Usher proteins in inner ear structure and function

Por Ahmed, Zubair M., Frolenkov, Gregory I., Riazuddin, Saima
Publicado em 2013

USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1

Por Jaworek, Thomas J., Bhatti, Rashid, Latief, Naureen, Khan, Shaheen N., Riazuddin, Saima, Ahmed, Zubair M
Publicado em 2012

USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23

Por Ahmed, Zubair M, Riazuddin, Saima, Khan, Shaheen N, Friedman, Penelope L, Riazuddin, Sheikh, Friedman, Thomas B
Publicado em 2008

MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells

Por Yousaf, Rizwan, Meng, Qinghang, Hufnagel, Robert B., Xia, Ying, Puligilla, Chandrakala, Ahmed, Zubair M., Riazuddin, Saima
Publicado no Dis Model Mech (2015)

Radioprotective Effect of Aminothiol PrC-210 on Irradiated Inner Ear of Guinea Pig

Por Giese, Arnaud P. J., Guarnaschelli, Jess G., Ward, Jonette A., Choo, Daniel I., Riazuddin, Saima, Ahmed, Zubair M.
Publicado no PLoS One (2015)

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse

Por Yousaf, Rizwan, Gu, Chunfang, Ahmed, Zubair M., Khan, Shaheen N., Friedman, Thomas B., Riazuddin, Sheikh, Shears, Stephen B., Riazuddin, Saima
Publicado no PLoS Genet (2018)

DFNB86, a novel autosomal recessive nonsyndromic deafness locus on chromosome 16p13.3

Por Ali, Rana A., Rehman, Atteeq U., Khan, Shaheen N., Husnain, Tayyab, Riazuddin, Sheikh, Friedman, Thomas B., Ahmed, Zubair M., Riazuddin, Saima
Publicado em 2011

A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure

Por Fong, Keith S. K., Hufnagel, Robert B., Khadka, Vedbar S., Corley, Michael J., Maunakea, Alika K., Fogelgren, Ben, Ahmed, Zubair M., Lozanoff, Scott
Publicado no Dis Model Mech (2016)

A New Locus for Nonsyndromic Deafness DFNB51 Maps to Chromosome 11p13-p12

Por Shaikh, Rehan Sadiq, Ramzan, Khushnooda, Nazli, Sabiha, Sattar, Sameera, Khan, Shaheen N., Riazuddin, Saima, Ahmed, Zubair M., Friedman, Thomas B., Riazuddin, Sheikh
Publicado em 2005

A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred

Por Waryah, Ali M., Shahzad, Mohsin, Shaikh, Hina, Sheikh, Shakeel A., Channa, Naseem A., Hufnagel, Robert B., Makhdoom, Asadullah, Riazuddin, Saima, Ahmed, Zubair M.
Publicado no Clin Genet (2015)

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

Por Ahmed, Zubair M., Riazuddin, Saima, Aye, Sandar, Ali, Rana A., Venselaar, Hanka, Anwar, Saima, Belyantseva, Polina P., Qasim, Muhammad, Riazuddin, Sheikh, Friedman, Thomas B.
Publicado em 2008

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy

Por Shaikh, Rehan S, Reuter, Peggy, Sisk, Robert A, Kausar, Tasleem, Shahzad, Mohsin, Maqsood, Muhammad I, Yousif, Ateeq, Ali, Muhammad, Riazuddin, Saima, Wissinger, Bernd, Ahmed, Zubair M
Publicado no Eur J Hum Genet (2015)

Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population

Por Yousaf, Sairah, Shahzad, Mohsin, Tasleem, Kausar, Sheikh, Shakeel A., Tariq, Nabeela, Shabbir, Asra S., Ali, Muhammad, Waryah, Ali M., Shaikh, Rehan S., Riazuddin, Saima, Ahmed, Zubair M.
Publicado no Pigment Cell Melanoma Res (2015)

Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F

Por Ahmed, Zubair M., Riazuddin, Saima, Bernstein, Steve L., Ahmed, Zahoor, Khan, Shaheen, Griffith, Andrew J., Morell, Robert J., Friedman, Thomas B., Riazuddin, Sheikh, Wilcox, Edward R.
Publicado em 2001

Molecular Remodeling of Tip Links Underlies Mechanosensory Regeneration in Auditory Hair Cells

Por Indzhykulian, Artur A., Stepanyan, Ruben, Nelina, Anastasiia, Spinelli, Kateri J., Ahmed, Zubair M., Belyantseva, Inna A., Friedman, Thomas B., Barr-Gillespie, Peter G., Frolenkov, Gregory I.
Publicado em 2013

Modifier variant of METTL13 suppresses human GAB1–associated profound deafness

Por Yousaf, Rizwan, Ahmed, Zubair M., Giese, Arnaud P.J., Morell, Robert J., Lagziel, Ayala, Dabdoub, Alain, Wilcox, Edward R., Riazuddin, Sheikh, Friedman, Thomas B., Riazuddin, Saima
Publicado no J Clin Invest (2018)

Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

Por Waryah, Ali M., Ahmed, Zubair M., Choo, Daniel I., Sisk, Robert A., Binder, Munir A., Shahzad, Mohsin, Khan, Shaheen N., Friedman, Thomas B., Riazuddin, Sheikh, Riazuddin, Saima
Publicado em 2011

A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family

Por Patel, Kunjan, Giese, Arnaud P., Grossheim, J. M., Hegde, Rashima S., Delio, Maria, Samanich, Joy, Riazuddin, Saima, Frolenkov, Gregory I., Cai, Jinlu, Ahmed, Zubair M., Morrow, Bernice E.
Publicado no PLoS One (2015)

Correction: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family

Por Patel, Kunjan, Giese, Arnaud P., Grossheim, J. M., Hegde, Rashmi S., Delio, Maria, Samanich, Joy, Riazuddin, Saima, Frolenkov, Gregory I., Cai, Jinlu, Ahmed, Zubair M., Morrow, Bernice E.
Publicado no PLoS One (2015)

Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome

Por Riazuddin, Saima, Ahmed, Zubair M, Hegde, Rashmi S, Khan, Shaheen N, Nasir, Idrees, Shaukat, Uzma, Riazuddin, Sheikh, Butman, John A, Griffith, Andrew J, Friedman, Thomas B, Choi, Byung Yoon
Publicado em 2011