Biochemical Mechanism of Pathogenesis of Human Gonadotropin-Releasing Hormone Receptor Mutants Thr104Ile and Tyr108Cys Associated With Familial Hypogonadotropic Hypogonadism

The pathogenic mechanisms whereby the Thr104Ile and Tyr108Cys mutations in the gonadotropin-releasing hormone receptor (GnRHR) gene cause hypogonadotropic hypogonadism in humans are unknown. Transient expression of Thr104Ile and Tyr108Cys mutants in COS-7 cells revealed that both GnRHR mutants neith...

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Main Authors: Maya-Núñez, Guadalupe, Janovick, Jo Ann, Aguilar-Rojas, Arturo, Jardón-Valadez, Eduardo, Leaños-Miranda, Alfredo, Zariñan, Teresa, Ulloa-Aguirre, Alfredo, Conn, P. Michael
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3073020/
https://ncbi.nlm.nih.gov/pubmed/21277937
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mce.2011.01.016
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