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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Sci Rep
Κύριοι συγγραφείς: 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.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Nature Publishing Group 2017
Θέματα:
Article
Διαθέσιμο Online: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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