The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
p63-Associated Disorders
Open accessAbstract
Heterozygous mutations in the transcription factor gene p63 are causative for several syndromes, with ectodermal dysplasia, orofacial clefting and limb malformations as the key characteristics. Different combinations of these features are seen in five different syndromes, of which ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome (EEC) is the most common one. Mutations in p63 can also cause non-syndromic single malformations, such as split hand foot malformation (SHFM4) and isolated cleft lip (NSCL). In this article we will present an overview of diseases caused by mutations in the p63 gene and review the known pathogenic p63 gene mutations.
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Cites
Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome
Olive, K. P., Tuveson, D. A., Ruhe, Z. C., Yin, B., Willis, N. A., Bronson, R. T., Crowley, D., & Jacks, T. (2004) · Cell · doi:10.1016/j.cell.2004.11.004 · Cited by 1,308
Di Agostino, S., Strano, S., Emiliozzi, V., Zerbini, V., Mottolese, M., Sacchi, A., Blandino, G., & Piaggio, G. (2006) · Cancer Cell · doi:10.1016/j.ccr.2006.08.013 · Cited by 418
Cited by
p63 and p73, the ancestors of p53
Dotsch, V., Bernassola, F., Coutandin, D., Candi, E., & Melino, G. (2010) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a004887 · Cited by 326
A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans
Liu, F., van der Lijn, F., Schurmann, C., Zhu, G., Chakravarty, M. M., Hysi, P. G., Wollstein, A., Lao, O., de Bruijne, M., Ikram, M. A., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002932 · Cited by 326
Bykov, V. J. N., Zhang, Q., Zhang, M., Ceder, S., Abrahmsen, L., & Wiman, K. G. (2016) · Frontiers in Oncology · doi:10.3389/fonc.2016.00021 · Cited by 137
p63 in Skin Development and Ectodermal Dysplasias
Koster, M. I. (2010) · Journal of Investigative Dermatology · doi:10.1038/jid.2010.119 · Cited by 100
Recent advances in the molecular mechanism of thalidomide teratogenicity
Gao, S., Wang, S., Fan, R., & Hu, J. (2020) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2020.110114 · Cited by 78
Metadata
- Authors
- Rinne, T., Brunner, H. G., & van Bokhoven, H.
- Venue
- Cell Cycle
- Publisher
- Informa UK Limited
- Published
- 2007-02
- Volume
- 6
- Issue
- 3
- Pages
- 262-268
- ISSN
- 1538-4101 (ISSN-L)
- 1551-4005
- OpenAlex
- W2000854021
- Cited by
- 293
- References
- 2
- FWCI
- 7.30
- Type
- journal article
- Language
- en
- Open access
- bronze
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