The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways

IGSF1 (Immunoglobulin Superfamily 1) gene defects cause central hypothyroidism and macroorchidism. However, the pathogenic mechanisms of the disease remain unclear. Based on a patient with a full deletion of IGSF1 clinically followed from neonate to adulthood, we investigated a common pituitary orig...

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Publié dans:Sci Rep
Auteurs principaux: García, Marta, Barrio, Raquel, García-Lavandeira, Montserrat, Garcia-Rendueles, Angela R., Escudero, Adela, Díaz-Rodríguez, Esther, Gorbenko Del Blanco, Darya, Fernández, Ana, de Rijke, Yolanda B., Vallespín, Elena, Nevado, Julián, Lapunzina, Pablo, Matre, Vilborg, Hinkle, Patricia M., Hokken-Koelega, Anita C. S., de Miguel, María P., Cameselle-Teijeiro, José Manuel, Nistal, Manuel, Alvarez, Clara V., Moreno, José C.
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2017
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5338029/
https://ncbi.nlm.nih.gov/pubmed/28262687
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep42937
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