Literature DB >> 22211675

DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3.

R A Ali, A U Rehman, S N Khan, T Husnain, S Riazuddin, T B Friedman, Z M Ahmed, S Riazuddin.   

Abstract

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Year:  2011        PMID： 22211675      PMCID： PMC3320688          DOI： 10.1111/j.1399-0004.2011.01729.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  9 in total

1.  Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.

Authors:  Atteeq Ur Rehman; Robert J Morell; Inna A Belyantseva; Shahid Y Khan; Erich T Boger; Mohsin Shahzad; Zubair M Ahmed; Saima Riazuddin; Shaheen N Khan; Sheikh Riazuddin; Thomas B Friedman
Journal:  Am J Hum Genet       Date:  2010-02-18       Impact factor: 11.025

2.  Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.

Authors:  Zubair M Ahmed; Rizwan Yousaf; Byung Cheon Lee; Shaheen N Khan; Sue Lee; Kwanghyuk Lee; Tayyab Husnain; Atteeq Ur Rehman; Sarah Bonneux; Muhammad Ansar; Wasim Ahmad; Suzanne M Leal; Vadim N Gladyshev; Inna A Belyantseva; Guy Van Camp; Sheikh Riazuddin; Thomas B Friedman; Saima Riazuddin
Journal:  Am J Hum Genet       Date:  2010-12-23       Impact factor: 11.025

3.  Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy.

Authors:  Dominique Ducroq; Stavit Shalev; Aviv Habib; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
Journal:  Eur J Hum Genet       Date:  2006-08-09       Impact factor: 4.246

4.  Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

Authors:  E R Wilcox; Q L Burton; S Naz; S Riazuddin; T N Smith; B Ploplis; I Belyantseva; T Ben-Yosef; N A Liburd; R J Morell; B Kachar; D K Wu; A J Griffith; S Riazuddin; T B Friedman
Journal:  Cell       Date:  2001-01-12       Impact factor: 41.582

5.  Tricellulin is a tight-junction protein necessary for hearing.

Authors:  Saima Riazuddin; Zubair M Ahmed; Alan S Fanning; Ayala Lagziel; Shin-ichiro Kitajiri; Khushnooda Ramzan; Shaheen N Khan; Parna Chattaraj; Penelope L Friedman; James M Anderson; Inna A Belyantseva; Andrew Forge; Sheikh Riazuddin; Thomas B Friedman
Journal:  Am J Hum Genet       Date:  2006-10-31       Impact factor: 11.025

6.  Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.

Authors:  Tamar Ben-Yosef; Inna A Belyantseva; Thomas L Saunders; Elizabeth D Hughes; Kohei Kawamoto; Christina M Van Itallie; Lisa A Beyer; Kärin Halsey; Donald J Gardner; Edward R Wilcox; Julia Rasmussen; James M Anderson; David F Dolan; Andrew Forge; Yehoash Raphael; Sally A Camper; Thomas B Friedman
Journal:  Hum Mol Genet       Date:  2003-08-15       Impact factor: 6.150

7.  Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

Authors:  Saima Riazuddin; Saima Anwar; Martin Fischer; Zubair M Ahmed; Shahid Y Khan; Audrey G H Janssen; Ahmad U Zafar; Ute Scholl; Tayyab Husnain; Inna A Belyantseva; Penelope L Friedman; Sheikh Riazuddin; Thomas B Friedman; Christoph Fahlke
Journal:  Am J Hum Genet       Date:  2009-07-30       Impact factor: 11.025

8.  Deafness in Claudin 11-null mice reveals the critical contribution of basal cell tight junctions to stria vascularis function.

Authors:  Alexander Gow; Caroline Davies; Cherie M Southwood; Gregory Frolenkov; Mark Chrustowski; Lily Ng; Daisuke Yamauchi; Daniel C Marcus; Bechara Kachar
Journal:  J Neurosci       Date:  2004-08-11       Impact factor: 6.167

9.  A claudin-9-based ion permeability barrier is essential for hearing.

Authors:  Yoko Nakano; Sung H Kim; Hyoung-Mi Kim; Joel D Sanneman; Yuzhou Zhang; Richard J H Smith; Daniel C Marcus; Philine Wangemann; Randy A Nessler; Botond Bánfi
Journal:  PLoS Genet       Date:  2009-08-21       Impact factor: 5.917
  9 in total
  4 in total

1.  Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

Authors:  Atteeq U Rehman; Regie Lyn P Santos-Cortez; Robert J Morell; Meghan C Drummond; Taku Ito; Kwanghyuk Lee; Asma A Khan; Muhammad Asim R Basra; Naveed Wasif; Muhammad Ayub; Rana A Ali; Syed I Raza; Deborah A Nickerson; Jay Shendure; Michael Bamshad; Saima Riazuddin; Neil Billington; Shaheen N Khan; Penelope L Friedman; Andrew J Griffith; Wasim Ahmad; Sheikh Riazuddin; Suzanne M Leal; Thomas B Friedman
Journal:  Am J Hum Genet       Date:  2014-01-02       Impact factor: 11.025

Review 2.  Unresolved questions regarding human hereditary deafness.

Authors:  A U Rehman; T B Friedman; A J Griffith
Journal:  Oral Dis       Date:  2016-07-11       Impact factor: 3.511

Review 3.  Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.

Authors:  Anushree Acharya; Isabelle Schrauwen; Suzanne M Leal
Journal:  Hum Genet       Date:  2021-07-22       Impact factor: 4.132

Review 4.  Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.

Authors:  Xue Gao; Pu Dai; Yong-Yi Yuan
Journal:  Hum Genet       Date:  2021-07-07       Impact factor: 4.132
  4 in total

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