Deletions and loss-of-function variants in TP63 associated with orofacial clefting
Author:
Funder
Deutsche Forschungsgemeinschaft
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s41431-019-0370-0.pdf
Reference28 articles.
1. Mills AA, Zheng B, Wang X-J, Vogel H, Roop DR, Bradley A. p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature. 1999;398:708–13.
2. Yang A, Schweitzer R, Sun D, Kaghad M, Walker N, Bronson RT, et al. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature. 1999;398:714–8.
3. Yang A, Kaghad M, Wang Y, Gillett E, Fleming MD, Dötsch V, et al. p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. Mol Cell. 1998;2:305–16.
4. Mangiulli M, Valletti A, Caratozzolo MF, Tullo A, Sbisà E, Pesole G, et al. Identification and functional characterization of two new transcriptional variants of the human p63 gene. Nucleic Acids Res. 2009;37:6092–104.
5. Vanbokhoven H, Melino G, Candi E, Declercq W. p63, a story of mice and men. J Invest Dermatol. 2011;131:1196–207.
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4. Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting;Genetics in Medicine;2023-10
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