RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development

Autor: Elena Dellambra, Sonia Cordisco, Francesca Delle Monache, Sergio Bondanza, Massimo Teson, Ezio Maria Nicodemi, Biagio Didona, Angelo Giuseppe Condorelli, Giovanna Camerino, Daniele Castiglia, Liliana Guerra

Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-20 (2022)

Abstract Background Secreted R-spondin (RSPO) proteins play a key role in reproductive organ development, epithelial stem cell renewal and cancer induction by reinforcing canonical Wnt signaling. We have previously reported that palmoplantar keratode

Externí odkaz: https://doaj.org/article/b8e473838ba44368bd41b054eff3bdac

ESDR448 - RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell-cell adhesion, EMT-like phenotype and invasiveness properties

Autor: Liliana Guerra, Daniele Castiglia, Giovanna Camerino, Angelo Giuseppe Condorelli, Massimo Teson, Sergio Bondanza, Francesca Delle Monache, Sonia Cordisco, Elena Dellambra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::31d8a60efd929b251c211ed2cdd1e5c8
https://doi.org/10.26226/m.62fa00a04b6034001b1c3172

Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling

Autor: Alexander Pearlman, Rosanna Pallotta, Harry Ostrer, Johnny Loke, Ursula Giussani, Orsetta Zuffardi, Giovanna Camerino, Orietta Radi

Publikováno v: Human Molecular Genetics. 23:1073-1083

In-frame missense and splicing mutations (resulting in a 2 amino acid insertion or a 34 amino acid deletion) dispersed through the MAP3K1 gene tilt the balance from the male to female sex-determining pathway, resulting in 46,XY disorder of sex develo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79bab2e1c67b27652ad255582abc1793
https://doi.org/10.1093/hmg/ddt502

Activation of beta-catenin signaling by Rspo1 controls differentiation of the mammalian ovary

Autor: Fariba Ranc, Dirk G. de Rooij, Elodie P. Gregoire, Andreas Schedl, Anne Amandine Chassot, Hermien L. Roepers-Gajadien, Makoto Mark Taketo, Marie-Christine Chaboissier, Giovanna Camerino

Publikováno v: Human molecular genetics, 17(9), 1264-1277. Oxford University Press
Human Molecular Genetics
Human Molecular Genetics, 2008, 17 (9), pp.1264-1277. ⟨10.1093/hmg/ddn016⟩

International audience; The sex of an individual is determined by the fate of the gonad. While the expression of Sry and Sox9 is sufficient to induce male development, we here show that female differentiation requires activation of the canonical b-ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ffe15be74f84683fe72478dc46ded51
https://doi.org/10.1093/hmg/ddn016

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

Autor: Gianni Russo, Pietro Palumbo, Maurizio Merico, Alexis Parada-Bustamante, Emmanouil Manolakos, M. Chaabouni, Silvana Beri, Orsetta Zuffardi, Mohammadreza Dehghani, Leopoldo Zelante, Paola Grammatico, Roberto Giorda, Massimo Carella, Laura Cardarelli, Lilia Kraoua, Maria Clara Bonaglia, Annalisa Vetro, Alfredo Brusco, Orietta Radi, Francesca Forzano, Orazio Palumbo, Marjan Sabaghian, Andrea Castro, Savino Calvano, Mohamed Basly, Sabrina Giglio, Giovanna Camerino, Crystalena Sofocleous

Duplications in the ~2 Mb desert region upstream of SOX9 at 17q24.3 may result in familial 46,XX disorders of sex development (DSD) without any effects on the XY background. A balanced translocation with its breakpoint falling within the same region

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84b79afcc47e4f277fbd917c3144817e
http://hdl.handle.net/2318/1509053