Browsing Institutt for biovitenskap by Author "Cameselle-Teijeiro, José Manuel"

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  • The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGF? and Activin pathways 
    García, Marta; Barrio, Raquel; García-Lavandeira, Montserrat; Garcia-Rendueles, Angela R.; Escudero, Adela; Diaz-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. (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2017)
    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 ...