The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3
Abstract
DFNB3 , a locus for nonsyndromic sensorineural recessive deafness, maps to a 3-centimorgan interval on human chromosome 17p11.2, a region that shows conserved synteny with mouse shaker-2 . A human unconventional myosin gene, MYO15 , was identified by combining functional and positional cloning approaches in searching for shaker-2 and DFNB3 . MYO15 has at least 50 exons spanning 36 kilobases. Sequence analyses of these exons in affected individuals from three unrelated DFNB3 families revealed two missense mutations and one nonsense mutation that cosegregated with congenital recessive deafness.
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Mooseker, M. S., & Cheney, R. E. (1995) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cb.11.110195.003221 · Cited by 370
Cited by
Hirokawa, N., Niwa, S., & Tanaka, Y. (2010) · Neuron · doi:10.1016/j.neuron.2010.09.039 · Cited by 1,138
Endocytosis and signaling: Cell logistics shape the eukaryotic cell plan
Sigismund, S., Confalonieri, S., Ciliberto, A., Polo, S., Scita, G., & Di Fiore, P. P. (2012) · Physiological Reviews · doi:10.1152/physrev.00005.2011 · Cited by 338
Role of Myosin VI in the Differentiation of Cochlear Hair Cells
Self, T., Sobe, T., Copeland, N. G., Jenkins, N. A., Avraham, K. B., & Steel, K. P. (1999) · Developmental Biology · doi:10.1006/dbio.1999.9424 · Cited by 263
Elsea, S. H., & Girirajan, S. (2008) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5202009 · Cited by 241
Structural basis for tunable control of actin dynamics by myosin-15 in mechanosensory stereocilia
Gong, R., Jiang, F., Moreland, Z. G., Reynolds, M. J., de los Reyes, S. E., Gurel, P., Shams, A., Heidings, J. B., Bowl, M. R., Bird, J. E., et al. (2022) · Science Advances · doi:10.1126/sciadv.abl4733 · Cited by 56
Metadata
- Authors
- Wang, A., Liang, Y., Fridell, R. A., Probst, F. J., Wilcox, E. R., Touchman, J. W., Morton, C. C., Morell, R. J., Noben-Trauth, K., Camper, S. A., & Friedman, T. B.
- Venue
- Science
- Published
- 1998-05-29
- Volume
- 280
- Issue
- 5368
- Pages
- 1447-1451
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2142626694
- Cited by
- 436
- References
- 1
- FWCI
- 26.59
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3. https://app.cochat.ai/papers/10.1126/science.280.5368.1447
- The paper
- Wang, A., Liang, Y., Fridell, R. A., Probst, F. J., Wilcox, E. R., Touchman, J. W., Morton, C. C., Morell, R. J., Noben-Trauth, K., Camper, S. A., & Friedman, T. B. (1998). Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3. Science. https://doi.org/10.1126/science.280.5368.1447
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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