Article
Mice harboring Gnrhr E90K, a mutation that causes protein misfolding and hypogonadotropic hypogonadism in humans, exhibit testis size reduction and ovulation failure.
Molecular endocrinology (Baltimore, Md.) - 1 Nov 2012
Stewart M David, Deng Jian Ming, Stewart C Allison, Mullen Rachael D, Wang Ying, Lopez Suhujey, Serna M Katalina, Huang Cheng-Chiu, Janovick Jo Ann, Pask Andrew J, Schwartz Robert J, Conn P Michael, Behringer Richard R
Abstract excerpt
GnRH, produced in the hypothalamus, acts on pituitary gonadotropes to stimulate release of the gonadotropins LH and FSH. Reduced responsiveness of gonadotropes to GnRH is a primary cause of hypogonadotropic hypogonadism (HH), a disease characterized by gonadal dysfunction and low blood levels of gonadotropins. Loss-of-function mutations in the gene encoding the receptor for GnRH (GNRHR) are a common cause of HH....
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