Literature DB >> 11577373

At the speed of sound: gene discovery in the auditory system.

B L Resendes1, R E Williamson, C C Morton.   

Abstract

As auditory genes and deafness-associated mutations are discovered at a rapid rate, exciting opportunities have arisen to uncover the molecular mechanisms underlying hearing and hearing impairment. Single genes have been identified to be pathogenic for dominant or recessive forms of nonsyndromic hearing loss, syndromic hearing loss, and, in some cases, even multiple forms of hearing loss. Modifier loci and genes have been found, and investigations into their role in the hearing process will yield valuable insight into the fundamental processes of the auditory system.

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Year:  2001        PMID: 11577373      PMCID: PMC1274369          DOI: 10.1086/324122

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  98 in total

1.  A mutation in PDS causes non-syndromic recessive deafness.

Authors:  X C Li; L A Everett; A K Lalwani; D Desmukh; T B Friedman; E D Green; E R Wilcox
Journal:  Nat Genet       Date:  1998-03       Impact factor: 38.330

2.  Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness.

Authors:  K B Sevior; A Hatamochi; I A Stewart; Y Bykhovskaya; D R Allen-Powell; N Fischel-Ghodsian; M A Maw
Journal:  Am J Med Genet       Date:  1998-01-13

3.  Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.

Authors:  X Z Liu; J Walsh; Y Tamagawa; K Kitamura; M Nishizawa; K P Steel; S D Brown
Journal:  Nat Genet       Date:  1997-11       Impact factor: 38.330

4.  SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

Authors:  V Pingault; N Bondurand; K Kuhlbrodt; D E Goerich; M O Préhu; A Puliti; B Herbarth; I Hermans-Borgmeyer; E Legius; G Matthijs; J Amiel; S Lyonnet; I Ceccherini; G Romeo; J C Smith; A P Read; M Wegner; M Goossens
Journal:  Nat Genet       Date:  1998-02       Impact factor: 38.330

5.  Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

Authors:  A Adato; D Weil; H Kalinski; Y Pel-Or; H Ayadi; C Petit; M Korostishevsky; B Bonne-Tamir
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

6.  BOR and BO syndromes are allelic defects of EYA1.

Authors:  C Vincent; V Kalatzis; S Abdelhak; H Chaib; S Compain; J Helias; F M Vaneecloo; C Petit
Journal:  Eur J Hum Genet       Date:  1997 Jul-Aug       Impact factor: 4.246

7.  Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

Authors:  L A Everett; B Glaser; J C Beck; J R Idol; A Buchs; M Heyman; F Adawi; E Hazani; E Nassir; A D Baxevanis; V C Sheffield; E D Green
Journal:  Nat Genet       Date:  1997-12       Impact factor: 38.330

8.  Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.

Authors:  O Vahava; R Morell; E D Lynch; S Weiss; M E Kagan; N Ahituv; J E Morrow; M K Lee; A B Skvorak; C C Morton; A Blumenfeld; M Frydman; T B Friedman; M C King; K B Avraham
Journal:  Science       Date:  1998-03-20       Impact factor: 47.728

9.  Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous.

Authors:  E D Lynch; M K Lee; J E Morrow; P L Welcsh; P E León; M C King
Journal:  Science       Date:  1997-11-14       Impact factor: 47.728

10.  Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

Authors:  S Abdelhak; V Kalatzis; R Heilig; S Compain; D Samson; C Vincent; F Levi-Acobas; C Cruaud; M Le Merrer; M Mathieu; R König; J Vigneron; J Weissenbach; C Petit; D Weil
Journal:  Hum Mol Genet       Date:  1997-12       Impact factor: 6.150

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  16 in total

1.  DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.

Authors:  Jamil Ahmad; Shaheen N Khan; Shahid Y Khan; Khushnooda Ramzan; Saima Riazuddin; Zubair M Ahmed; Edward R Wilcox; Thomas B Friedman; Sheikh Riazuddin
Journal:  Hum Genet       Date:  2005-02-12       Impact factor: 4.132

2.  Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64.

Authors:  Jing Cheng; Yuhua Zhu; Sudan He; Yanping Lu; Jing Chen; Bing Han; Marco Petrillo; Kazimierz O Wrzeszczynski; Shiming Yang; Pu Dai; Suoqiang Zhai; Dongyi Han; Michael Q Zhang; Wei Li; Xuezhong Liu; Huawei Li; Zheng-Yi Chen; Huijun Yuan
Journal:  Am J Hum Genet       Date:  2011-06-30       Impact factor: 11.025

3.  Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin.

Authors:  Mireille Lavigne-Rebillard; Benjamin Delprat; Marie-Odile Surget; Jean-Michel Griffoin; Dominique Weil; Mariona Arbones; Robert Vincent; Christian P Hamel
Journal:  Neurogenetics       Date:  2003-03-22       Impact factor: 2.660

4.  Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.

Authors:  Rosemary I Kabahuma; Xiaomei Ouyang; Li Lin Du; Denise Yan; Tim Hutchin; Michele Ramsay; Claire Penn; Xue-Zhong Liu
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2011-03-09       Impact factor: 1.675

5.  DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12.

Authors:  Muhammad Wajid; Amir Ali Abbasi; Muhammad Ansar; Thanh L Pham; Kai Yan; Sayedul Haque; Wasim Ahmad; Suzanne M Leal
Journal:  Eur J Hum Genet       Date:  2003-10       Impact factor: 4.246

6.  Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.

Authors:  Hiroshi Nakanishi; Kiyoto Kurima; Yoshiyuki Kawashima; Andrew J Griffith
Journal:  Auris Nasus Larynx       Date:  2014-06-02       Impact factor: 1.863

7.  A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval.

Authors:  A T DeWan; A R Parrado; S M Leal
Journal:  Clin Genet       Date:  2003-01       Impact factor: 4.438

8.  Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss.

Authors:  P J Francis; S Johnson; B Edmunds; R E Kelsell; E Sheridan; C Garrett; G E Holder; D M Hunt; A T Moore
Journal:  Br J Ophthalmol       Date:  2003-07       Impact factor: 4.638

9.  Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative study.

Authors:  Yu Chen; Mayila Tudi; Jie Sun; Chao He; Hong-Li Lu; Qing Shang; Di Jiang; Pilidong Kuyaxi; Bin Hu; Hua Zhang
Journal:  J Transl Med       Date:  2011-09-14       Impact factor: 5.531

10.  Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement.

Authors: 
Journal:  Genet Med       Date:  2002 May-Jun       Impact factor: 8.822

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