The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Molecular Genetics of Hearing Loss
Abstract
▪ Abstract Hereditary isolated hearing loss is genetically highly heterogeneous. Over 100 genes are predicted to cause this disorder in humans. Sixty loci have been reported and 24 genes underlying 28 deafness forms have been identified. The present epistemic stage in the realm consists in a preliminary characterization of the encoded proteins and the associated defective biological processes. Since for several of the deafness forms we still only have fuzzy notions of their pathogenesis, we here adopt a presentation of the various deafness forms based on the site of the primary defect: hair cell defects, nonsensory cell defects, and tectorial membrane anomalies. The various deafness forms so far studied appear as monogenic disorders. They are all rare with the exception of one, caused by mutations in the gene encoding the gap junction protein connexin26, which accounts for between one third to one half of the cases of prelingual inherited deafness in Caucasian populations.
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Clark, J. D., Lin, L.-L., Kriz, R. W., Ramesha, C. S., Sultzman, L. A., Lin, A. Y., Milona, N., & Knopf, J. L. (1991) · Cell · doi:10.1016/0092-8674(91)90556-e · Cited by 1,688
Molecular Genetics of Human Retinal Disease
Rattner, A., Sun, H., & Nathans, J. (1999) · Annual Review of Genetics · doi:10.1146/annurev.genet.33.1.89 · Cited by 228
Cited by
del Castillo, F. J., Rodríguez-Ballesteros, M., Álvarez, A., Hutchin, T., Leonardi, E., de Oliveira, C. A., Azaiez, H., Brownstein, Z., Avenarius, M. R., Marlin, S., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.028324 · Cited by 339
Self-citationSchizophrenia: a common disease caused by multiple rare alleles
McClellan, J. M., Susser, E., & King, M.-C. (2007) · British Journal of Psychiatry · doi:10.1192/bjp.bp.106.025585 · Cited by 296
Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss
Su, C.-C., Li, S.-Y., Yen, Y.-C., Nian, J.-H., Liang, W.-G., & Yang, J.-J. (2013) · Cell Biochemistry and Biophysics · doi:10.1007/s12013-012-9481-8 · Cited by 13
Metadata
- Authors
- Petit, C., Levilliers, J., & Hardelin, J.-P.
- Venue
- Annual Review of Genetics
- Publisher
- Annual Reviews
- Published
- 2001-12
- Volume
- 35
- Issue
- 1
- Pages
- 589-645
- ISSN
- 0066-4197 (ISSN-L)
- 1545-2948
- OpenAlex
- W2159205463
- Cited by
- 322
- References
- 2
- FWCI
- 1.05
- Type
- journal article
- Language
- en
- Open access
- closed
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- Petit, C., Levilliers, J., & Hardelin, J.-P. (2001). Molecular Genetics of Hearing Loss. Annual Review of Genetics. https://doi.org/10.1146/annurev.genet.35.102401.091224
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