Literature DB >> 8593615

An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.

K Fukushima1, A Ramesh, C R Srisailapathy, L Ni, S Wayne, M E O'Neill, G Van Camp, P Coucke, P Jain, E R Wilcox, S D Smith, J B Kenyon, R I Zbar, R J Smith.   

Abstract

Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of congenitally acquired inherited hearing impairment. Although numerous loci are believed to exist, only five have been identified. Using a pooled genomic DNA screening strategy, we have identified a sixth locus, DFNB6, on 3p in the interval bounded by D3S1619 and D3S1766.

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Year:  1995        PMID： 8593615     DOI： 10.1101/gr.5.3.305

Source DB:  PubMed          Journal:  Genome Res        ISSN： 1088-9051            Impact factor:   9.043


  11 in total

1.  A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.

Authors:  Muhammad Aslam; Muhammad Wajid; Maria H Chahrour; Muhammad Ansar; Sayedul Haque; Thanh L Pham; Regie P Santos; Kai Yan; Wasim Ahmad; Suzanne M Leal
Journal:  Am J Med Genet A       Date:  2005-02-15       Impact factor: 2.802

2.  Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.

Authors:  E Gausden; B Coyle; J A Armour; R Coffey; A Grossman; G R Fraser; R M Winter; M E Pembrey; P Kendall-Taylor; D Stephens; L M Luxon; P D Phelps; W Reardon; R Trembath
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

Review 3.  Nonsyndromic hearing impairment: unparalleled heterogeneity.

Authors:  G Van Camp; P J Willems; R J Smith
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

4.  Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.

Authors:  Shahid M Baig; Alexandra Koschak; Andreas Lieb; Mathias Gebhart; Claudia Dafinger; Gudrun Nürnberg; Amjad Ali; Ilyas Ahmad; Martina J Sinnegger-Brauns; Niels Brandt; Jutta Engel; Matteo E Mangoni; Muhammad Farooq; Habib U Khan; Peter Nürnberg; Jörg Striessnig; Hanno J Bolz
Journal:  Nat Neurosci       Date:  2010-12-05       Impact factor: 24.884

5.  Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.

Authors:  M I Shabbir; Z M Ahmed; S Y Khan; Saima Riazuddin; A M Waryah; S N Khan; R D Camps; M Ghosh; M Kabra; I A Belyantseva; T B Friedman; Sheikh Riazuddin
Journal:  J Med Genet       Date:  2006-02-03       Impact factor: 6.318

6.  An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.

Authors:  D A Scott; R Carmi; K Elbedour; S Yosefsberg; E M Stone; V C Sheffield
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

7.  A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.

Authors:  D A Campbell; D P McHale; K A Brown; L M Moynihan; M Houseman; G Karbani; G Parry; A H Janjua; V Newton; L al-Gazali; A F Markham; N J Lench; R F Mueller
Journal:  J Med Genet       Date:  1997-12       Impact factor: 6.318

8.  Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

Authors:  Sadaf Naz; Chantal M Giguere; David C Kohrman; Kristina L Mitchem; Saima Riazuddin; Robert J Morell; Arabandi Ramesh; Srikumari Srisailpathy; Dilip Deshmukh; Sheikh Riazuddin; Andrew J Griffith; Thomas B Friedman; Richard J H Smith; Edward R Wilcox
Journal:  Am J Hum Genet       Date:  2002-07-24       Impact factor: 11.025

Review 9.  Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.

Authors:  Wenjun Xia; Fei Liu; Duan Ma
Journal:  Front Med       Date:  2016-05-03       Impact factor: 4.592

Review 10.  How Transmembrane Inner Ear (TMIE) plays role in the auditory system: A mystery to us.

Authors:  Mohammad Farhadi; Ehsan Razmara; Maryam Balali; Yeganeh Hajabbas Farshchi; Masoumeh Falah
Journal:  J Cell Mol Med       Date:  2021-05-13       Impact factor: 5.310
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