The DOI matches its Crossref record.
Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13
Abstract
Hox genes regulate patterning during limb development. It is believed that they function in the determination of the timing and extent of local growth rates. Here, it is demonstrated that synpolydactyly, an inherited human abnormality of the hands and feet, is caused by expansions of a polyalanine stretch in the amino-terminal region of HOXD13. The homozygous phenotype includes the transformation of metacarpal and metatarsal bones to short carpal- and tarsal-like bones. The mutations identify the polyalanine stretch outside of the DNA binding domain of HOXD13 as a region necessary for proper protein function.
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Citations
Cited by
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
Mundlos, S., Otto, F., Mundlos, C., Mulliken, J. B., Aylsworth, A. S., Albright, S., Lindhout, D., Cole, W. G., Henn, W., Knoll, J. H. M., et al. (1997) · Cell · doi:10.1016/s0092-8674(00)80260-3 · Cited by 1,522
Self-citationLee, B., Thirunavukkarasu, K., Zhou, L., Pastore, L., Baldini, A., Hecht, J., Geoffrey, V., Ducy, P., & Karsenty, G. (1997) · Nature Genetics · doi:10.1038/ng0797-307 · Cited by 567
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
Bamshad, M., Lin, R. C., Law, D. J., Watkins, W. S., Krakowiak, P. A., Moore, M. E., Franceschini, P., Lala, R., Holmes, L. B., Gebuhr, T. C., et al. (1997) · Nature Genetics · doi:10.1038/ng0797-311 · Cited by 540
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Strømme, P., Mangelsdorf, M. E., Shaw, M. A., Lower, K. M., Lewis, S. M. E., Bruyere, H., Lütcherath, V., Gedeon, Á. K., Wallace, R. H., Scheffer, I. E., et al. (2002) · Nature Genetics · doi:10.1038/ng862 · Cited by 440
Miller, C., & Sassoon, D. A. (1998) · Development · doi:10.1242/dev.125.16.3201 · Cited by 400
Metadata
- Authors
- Muragaki, Y., Mundlos, S., Upton, J., & Olsen, B. R.
- Venue
- Science
- Published
- 1996-04-26
- Volume
- 272
- Issue
- 5261
- Pages
- 548-551
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1994338223
- Cited by
- 571
- References
- 0
- FWCI
- 53.93
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13. https://app.cochat.ai/papers/10.1126/science.272.5261.548
- The paper
- Muragaki, Y., Mundlos, S., Upton, J., & Olsen, B. R. (1996). Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13. Science. https://doi.org/10.1126/science.272.5261.548
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
