A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia
Academic Article
Publication Date:
2021
Short description:
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia / Guazzarotti, L., Sani, I., Giglio, S., Brunello, F., Perilongo, G., Bocciardi, R.. - In: CLINICAL GENETICS. - ISSN 0009-9163. - 99:3(2021), pp. 486-487. [10.1111/cge.13889]
abstract:
We hypothesize that the novel TP63 variant carried by our patients, leading to the production of truncated p63 lacking the ΔN region, an important functional domain, is unable to exert its normal regulatory function in the normal transformation of uterine cervix epithelium.
Iris type:
1.1 Articolo in rivista
Keywords:
TP63 gene; Transcription factor; Ectodermal derivatives; Non-syndromic limb-mammary phenotype; Uterine cervix dysplasia; p63 isotypes; Epithelial tissues
List of contributors:
Guazzarotti, Laura; Sani, Ilaria; Giglio, Sabrina; Brunello, Francesco; Perilongo, Giorgio; Bocciardi, Renata
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