Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA 10 locus

Human Molecular Genetics

Volumn 10, Issue 3, 2001, Pages 195-200

  Wayne, Sigrid ^a   Robertson, Nahid G ^b   DeClau, Frank ^c   Chen, Nancy ^d   Verhoeven, Kristien ^c   Prasad, Sai ^a   Tranebjärg, Lisbeth ^e   Morton, Cynthia C ^b   Ryan, Allen F ^d   Van Camp, Guy ^c   Smith, Richard J H ^a  

^a UNIVERSITY OF IOWA   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d VETERANS AFFAIRS MEDICAL CENTER   (United States)

^e UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

EYES ABSENT 4 PROTEIN; TRANSACTIVATOR PROTEIN; UNCLASSIFIED DRUG;

ADULT; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BELGIUM; CONTROLLED STUDY; CORTI ORGAN; EMBRYO DEVELOPMENT; FAMILY; FETUS; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; HEARING IMPAIRMENT; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MATURITY; MOUSE; NONHUMAN; ONSET AGE; PRIORITY JOURNAL; PROTEIN FAMILY; PROTEIN INTERACTION; RAT; STOP CODON; UNITED STATES; VERTEBRATE;

ANIMALIA; VERTEBRATA;

EID: 0035253743     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.3.195     Document Type: Article

References (23)

1. Genetic epidemiology of hearing impairment
2. A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6
3. Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment
4. The DFNA10 phenotype
5. A human homologue of the Drosophila eyes absent gene underlies branchio-otorenal (BOR) syndrome and identifies a novel gene family
6. Clustering of mutations responsible for Branchio-Oto-Renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1
7. Eya4, a novel vertebrate gene related to Drosophila eyes absent
8. BOR and BO syndromes are allelic defects of EYA1
9. Mouse Eya genes are expressed during limb tendon development and encode a transcriptional activation function
10. The Drosophila eyes absent gene directs ectopic eye formation in a pathway conserved between flies and vertebrates
11. Surviving Drosophila eye development: Integrating cell death with differentiation during formation of a neural structure
12. Cooperation of Six and Eya in activation of their target genes through nuclear translocation of Eya
13. Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode
14. Mutation in transcription factor associated with inherited progressive hearing loss in humans
15. Synergistic regulation of vertebrate muscle development by Dach2, Eya2, and Six1, homologs of genes required for Drosophila eye formation
16. Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene
17. Eya1 -deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia
18. Dilated cardiomyopathy and sensorineural hearing loss: A heritable syndrome that maps to 6q23-24
19. Eyal expression in the developing ear and kidney: Towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome
20. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
21. A complete protocol for in situ hybridization of messenger RNA in brain and other tissues with radio-labeled single-stranded RNA probes
22. Developmental expression of α9 acetylcholine receptor mRNA in the rat cochlea and vestibular inner ear