A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia

Sabrina Giglio
Membro del Collaboration Group
;
2021-01-01

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.
2021
2020
Inglese
CLINICAL GENETICS
99
3
486
487
2
WOS:000594363900001
2-s2.0-85096897355
33258108
Esperti anonimi
internazionale
scientifica
TP63 gene; Transcription factor; Ectodermal derivatives; Non-syndromic limb-mammary phenotype; Uterine cervix dysplasia; p63 isotypes; Epithelial tissues
no
Guazzarotti, Laura; Sani, Ilaria; Giglio, SABRINA RITA; Brunello, Francesco; Perilongo, Giorgio; Bocciardi, Renata
1.1 Articolo in rivista
info:eu-repo/semantics/article
1 Contributo su Rivista::1.1 Articolo in rivista
262
6
reserved
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