New interventions in hearing impairment

British Medical Journal

Volumn 320, Issue 7235, 2000, Pages 622-625

  Steel, Karen P ^a  

^a MRC INSTITUTE OF HEARING RESEARCH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

DISEASE PREDISPOSITION; DNA SEQUENCE; EARLY DIAGNOSIS; ENVIRONMENTAL EXPOSURE; GENE MUTATION; GENE THERAPY; HAIR CELL; HEARING; HEARING IMPAIRMENT; HUMAN; LIFESTYLE; MASS SCREENING; NERVE REGENERATION; NEWBORN SCREENING; PRIORITY JOURNAL; REVIEW; SENSORY STIMULATION; GENETICS; METHODOLOGY; MUTATION; PHYSIOLOGY;

DEAFNESS; GENE THERAPY; HEARING; HUMANS; MUTATION;

EID: 0034603234     PISSN: 09598146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (22)

1. 1 Davis AC. Hearing in adults. London: Whurr, 1995.
2. 2 Estivill X, Govea N, Barceló A, Perelló E, Badenas C, Romero E, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA AI555G mutation and is enhanced by treatment with aminoglycosides. Am J Hum Genet 1998;62:27-35.
3. 3 Steel KP. Progress in progressive deafness. Science 1998;279:1870-1.
4. 4 Van Camp G, Smith RJH. Hereditary Hearing Loss Homepage. http://dnalab-www.uia.ac.be/dnalab/hhh (accessed 30 Nov 1999).
5. 5 Steel KP, Bussoli TJ. Deafness genes: expressions of surprise. Trends Genetics 1999;15:207-11.
6. 6 OMIM, Online Mendelian Inheritance in Man. Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 1999. www.ncbi.nlm.nih.gov/omim/ (accessed 30 Nov 1999).
7. 7 Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabédian E. et al. Clinical features of the prevalent form of childhood deafness, DFNBI, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 1999;353:1298-303.
8. 8 Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997;6:2173-7.
9. 9 Estivill X, Fortino P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998;351:394-8.
10. 10 Self T, Mahony M, Fleming J, Walsh J, Brown SDM, Steel KP. Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development 1998;125:557-66.
11. 11 Probst FJ, Fridell RA, Raphael Y, Saunders TL, Wang A, Liang Y, et al. Correction of deafness in shaker2 mice by an unconventional myosin in a BAC transgene. Science 1998;280:1444-7.
12. 2+ -ATPase gene cause deafness in deafwaddler mice. Nature Genet 1998;19:390-4.
13. 13 Kubisch C, Schroeder BC, Friedrich T, Lütjohann B, El-Amraoui A, Marlin S, et al. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 1999;96:437-46.
14. 14 Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a non-syndromic form of deafness, Nature Genet 1999;21:363-9.
15. 15 Xia J, Liu C, Tang B, Pan Q, Huang L, Dai H, et al. Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment. Nature Genet 1998.20,370-3.
16. 16 Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nature Genetics 1999;23:16-8.
17. 17 Delpire E, Lu J, England R, Dull C, Thorne T. Deafness and imbalance associated with inactivation of the secretary Na-K-2Cl co-transporter. Nature Genetics 1999;22:192-5.
18. 18 Dixon MJ, Gazzard J, Chaudhry SS, Sampson N, Schulte BA, Steel KP. Mutation of the Na-K-Cl co-transporter gene SIc12a2 results in deafness in mice. Hum Mol Genet 1999;8:1579-84.
19. 19 Tyson J, Tranebjærg L, Bellman S, Wren C, Taylor JFN, Bathen J, et al. 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. Hum Mol Genet 1997;6:2179-85.
20. 20 Vetter DE, Mann JR, Wangemann P, Liu J, McLaughlin KJ, Lesage F, et al. Inner ear defects induced by null mutation of the isk gene. Neuron 1996;17:1251-64.
21. 21 Self T, Sobe T, Copeland NG, Jenkins NA, Avraham KB, Steel KP. Role of myosin VI in the differentiation of cochlear hair cells. Dis Biol 1999;214:331-41.
22. 22 Davis AC, Bamford J, Wilson I, Ramkalawan T, Forshaw M, Wright S. A critical review of the role of neonatal hearing screening in the detection of congenital hearing impairment. Health Technol Assessment 1997;1(10).