Continuing to break the sound barrier: Genes in hearing

Current Opinion in Genetics and Development

Volumn 12, Issue 3, 2002, Pages 343-348

  Call, Linda M ^a   Morton, Cynthia C ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUDITORY SYSTEM; GENE EXPRESSION; GENE MUTATION; HAIR CELL; HEARING; HEARING IMPAIRMENT; HUMAN; MITOCHONDRIAL GENETICS; NONHUMAN; PRIORITY JOURNAL; REVIEW; USHER SYNDROME; ANIMAL; GENETICS; METABOLISM;

MITOCHONDRIAL DNA;

ANIMALS; DNA, MITOCHONDRIAL; HAIR CELLS; HEARING; HUMANS;

EID: 0036591673     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(02)00308-8     Document Type: Review

References (47)

1. Genetic epidemiology of hearing impairment
2. Genes responsible for human hereditary deafness: Symphony of a thousand
3. A genetic approach to understanding auditory function
4. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
5. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
6. Haplotype analysis of the USH1D locus and genotype-phenotype correlations
7. Mutations in the protocadherin gene PCDH15 cause Usher syndrome type 1F
8. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
9. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer
10. A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, waltzer mouse niigata
11. Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice
12. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene
13. Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
14. Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
15. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29
16. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss
17. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family
18. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1
19. The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells
20. Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
21. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
22. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
23. IsK and KvLQT1: Mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome
24. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome
25. Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP
26. Transgenic mouse model of the mild dominant form of osteogenesis imperfecta
27. Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule
28. I chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta
29. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
30. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
31. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1
32. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
33. Physical mapping of the mouse tilted locus identifies an association between human deafness loci DFNA6/14 and vestibular system development
34. Ser(UCN) precursor with the U7445C substitution, which causes non-syndromic deafness
35. Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np-7445 deafness-associated mitochondrial mutation
36. Ser(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression
37. Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation
38. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation
39. Dominant modifier DFNM1 suppresses recessive deafness DFNB26
40. Mitochondrial deafness mutations reviewed
41. Candidate locus for a nuclear modifier gene for maternally inherited deafness
42. Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses
43. A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice
44. Mdfw: A deafness susceptibility locus that interacts with deaf waddler (dfw)
45. High-resolution genetic and physical mapping of modifier-of-deafwaddler (mdfw) and Waltzer (Cdh23v)
46. Mutations in a novel gene with transmembrane domains underlie Usher syndrome Type 3