Associated Papers
An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family.
Alzahrani AJ et al.
Case Reports in Pediatrics, 2019
Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study.
Francou B et al.
Human Reproduction (oxford, England), 2016
Molecular biology of the kisspeptin receptor: signaling, function, and mutations.
Bianco SD et al.
Advances in Experimental Medicine and Biology, 2013
A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia.
Breuer O et al.
European Journal of Endocrinology, 2012
The kisspeptin signaling pathway and its role in human isolated GnRH deficiency.
Wahab F et al.
Molecular and Cellular Endocrinology, 2011
G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.
Noel SD et al.
Molecular and Cellular Endocrinology, 2011
A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.
Nimri R et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect.
Ko JM et al.
Endocrine Journal, 2010
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.
Bianco SD et al.
Nature Reviews. Endocrinology, 2009
Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men.
Chan YM et al.
Peptides, 2009
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