Literature DB >> 15368491

Gene discovery in the auditory system using a tissue specific approach.

Cynthia C Morton1.   

Abstract

Molecular methods applied to the study of hereditary hearing loss in the past decade have revealed a copious number of genes representing a great diversity of cellular functions. In some instances, identification of these genes involved in deafness disorders has provided the portal to investigations of pathways not previously envisioned to underlie human hearing. Sequence analysis of a human fetal cochlear cDNA library has been employed to generate thousands of ESTs (expressed sequence tags) that provide a transcript map of the human cochlea and are a resource of candidate genes for positional cloning endeavors. Copyright 2004 Wiley-Liss, Inc.

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Year:  2004        PMID: 15368491     DOI: 10.1002/ajmg.a.30049

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  4 in total

1.  Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.

Authors:  Saima Riazuddin; Shaheen N Khan; Zubair M Ahmed; Manju Ghosh; Kyle Caution; Sabiha Nazli; Madhulika Kabra; Ahmad U Zafar; Kevin Chen; Sadaf Naz; Anthony Antonellis; William J Pavan; Eric D Green; Edward R Wilcox; Penelope L Friedman; Robert J Morell; Sheikh Riazuddin; Thomas B Friedman
Journal:  Am J Hum Genet       Date:  2005-11-21       Impact factor: 11.025

2.  A Bayesian ensemble approach with a disease gene network predicts damaging effects of missense variants of human cancers.

Authors:  Hong-Hee Won; Jong-Won Kim; Doheon Lee
Journal:  Hum Genet       Date:  2012-08-21       Impact factor: 4.132

3.  Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

Authors:  Rob W J Collin; Ersan Kalay; Muhammad Tariq; Theo Peters; Bert van der Zwaag; Hanka Venselaar; Jaap Oostrik; Kwanghyuk Lee; Zubair M Ahmed; Refik Caylan; Yun Li; Henk A Spierenburg; Erol Eyupoglu; Angelien Heister; Saima Riazuddin; Elif Bahat; Muhammad Ansar; Selcuk Arslan; Bernd Wollnik; Han G Brunner; Cor W R J Cremers; Ahmet Karaguzel; Wasim Ahmad; Frans P M Cremers; Gert Vriend; Thomas B Friedman; Sheikh Riazuddin; Suzanne M Leal; Hannie Kremer
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

4.  Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.

Authors:  Sevtap Savas; Steffen Schmidt; Hamdi Jarjanazi; Hilmi Ozcelik
Journal:  Hum Genomics       Date:  2006-03       Impact factor: 4.639

  4 in total

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