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Your search keyword '"Ahmed, Zubair"' showing total 2 results
2 results on '"Ahmed, Zubair"'

1. Mutations in TRIOBP, Which Encodes a Putative Cytoskeletal-Organizing Protein, Are Associated with Nonsyndromic Recessive Deafness.

Author

Riazuddin, Saima, Khan, Shaheen N., Ahmed, Zubair M., Ghosh, Manju, Caution, Kyle, Nazli, Sabiha, Kabra, Madhulika, Zafar, Ahmad U., Kevin Chen, Naz, Sadaf, Antonellis, Anthony, Pavan, William J., Green, Eric D., Wilcox, Edward R., Friedman, Penelope L., Morell, Robert J., Riazuddin, Sheikh, and Friedman, Thomas B.

Subjects
*DEAFNESS, *CHROMOSOMES, *GENES, *COMMUNICATIVE disorders, *GENETICS, *EAR diseases
Abstract

In seven families, six different mutant alleles of TRIOBP on chromosome 22q13 cosegregate with autosomal recessive nonsyndromic deafness. These alleles include four nonsense (Q297X, R788X, R1068X, and R1117X) and two frameshift (D1069fsX1082 and R1078fsX1083) mutations, all located in exon 6 of TRIOBP. There are several alternative splice isoforms of this gene, the longest of which, TRIOBP-6, comprises 23 exons. The linkage interval for the deafness segregating in these families includes DFNB2S. Genetic heterogeneity at this locus is suggested by three additional families that show significant evidence of linkage of deafness to markers on chromosome 22q13 but that apparently have no mutations in the TRIOBP gene. [ABSTRACT FROM AUTHOR]

Published
2006
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2. Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23.

Author

Bork, Julie M., Peters, Linda M., Wilcox, Edward R., Friedman, Thomas B., Morell, Robert J., Riazuddin, Saima, Ahmed, Zubair M., Bernstein, Steve L., Ness, Seth L., Polomeno, Robert, Ramesh, Arabandi, Srisailpathy, C. R. Srikumari, Schloss, Melvin, Wayne, Sigrid, Smith, Richard J. H., Bellman, Susan, Desmukh, Dilip, Ahmed, Zahoor, Khan, Shaheen N., and Kaloustian, Vazken M. Der

Subjects
*GENE mapping, *GENETICS of deafness, *RETINITIS pigmentosa, *EAR diseases, *CHROMOSOME analysis, *GENETICS
Abstract

Presents information on a case study related to mapping of genes causing non-syndromic autosomal recessive deafness (DFNB12) including that of retinitis pigmentosa and vestibular dysfunction (USH1D). Analysis on consanguineous families of chromosome 10q21-q22 regions for refinement of DFNB12 locus; Mutations in cadherin-like gene CDH23; Identification of USH1D and DFNB12.

Published
2001
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