IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction

CONTEXT: The X-linked immunoglobulin superfamily, member 1 (IGSF1), gene is highly expressed in the hypothalamus and in pituitary cells of the POU1F1 lineage. Human loss-of-function mutations in IGSF1 cause central hypothyroidism, hypoprolactinemia, and macroorchidism. Additionally, most affected ad...

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Publicado no:J Clin Endocrinol Metab
Main Authors: Joustra, Sjoerd D, Roelfsema, Ferdinand, van Trotsenburg, A S Paul, Schneider, Harald J, Kosilek, Robert P, Kroon, Herman M, Logan, John G, Butterfield, Natalie C, Zhou, Xiang, Toufaily, Chirine, Bak, Beata, Turgeon, Marc-Olivier, Brûlé, Emilie, Steyn, Frederik J, Gurnell, Mark, Koulouri, Olympia, Le Tissier, Paul, Fontanaud, Pierre, Duncan Bassett, J H, Williams, Graham R, Oostdijk, Wilma, Wit, Jan M, Pereira, Alberto M, Biermasz, Nienke R, Bernard, Daniel J, Schoenmakers, Nadia
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
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Online Only
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7108761/
https://ncbi.nlm.nih.gov/pubmed/31650157
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgz093
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