Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but the role of SOX8 in humans is unknown. Here, we show that SOX8 is expressed in the somatic cells of the early developing gonad in the human and infl...

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Autores principales: Portnoi, Marie-France, Dumargne, Marie-Charlotte, Rojo, Sandra, Witchel, Selma F, Duncan, Andrew J, Eozenou, Caroline, Bignon-Topalovic, Joelle, Yatsenko, Svetlana A, Rajkovic, Aleksandar, Reyes-Mugica, Miguel, Almstrup, Kristian, Fusee, Leila, Srivastava, Yogesh, Chantot-Bastaraud, Sandra, Hyon, Capucine, Louis-Sylvestre, Christine, Validire, Pierre, de Malleray Pichard, Caroline, Ravel, Celia, Christin-Maitre, Sophie, Brauner, Raja, Rossetti, Raffaella, Persani, Luca, Charreau, Eduardo H, Dain, Liliana, Chiauzzi, Violeta A, Mazen, Inas, Rouba, Hassan, Schluth-Bolard, Caroline, MacGowan, Stuart, McLean, W H Irwin, Patin, Etienne, Rajpert-De Meyts, Ewa, Jauch, Ralf, Achermann, John C, Siffroi, Jean-Pierre, McElreavey, Ken, Bashamboo, Anu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159538/
https://www.ncbi.nlm.nih.gov/pubmed/29373757
http://dx.doi.org/10.1093/hmg/ddy037

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