Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism

Congenital hypogonadotropic hypogonadism (CHH) is a condition characterized by absent puberty and infertility due to gonadotropin releasing hormone (GnRH) deficiency, which is often associated with anosmia (Kallmann syndrome, KS). We identified loss-of-function heterozygous mutations in anti-Mülleri...

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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:eLife
Päätekijät: Malone, Samuel Andrew, Papadakis, Georgios E, Messina, Andrea, Mimouni, Nour El Houda, Trova, Sara, Imbernon, Monica, Allet, Cecile, Cimino, Irene, Acierno, James, Cassatella, Daniele, Xu, Cheng, Quinton, Richard, Szinnai, Gabor, Pigny, Pascal, Alonso-Cotchico, Lur, Masgrau, Laura, Maréchal, Jean-Didier, Prevot, Vincent, Pitteloud, Nelly, Giacobini, Paolo
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: eLife Sciences Publications, Ltd 2019
Aiheet:
Developmental Biology
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6620045/
https://ncbi.nlm.nih.gov/pubmed/31291191
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.47198
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