Associated Papers
Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.
Ibrahim R et al.
Reproductive Biology, 2025
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
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families.
Demirbilek H et al.
Clinical Endocrinology, 2015
Molecular biology of the kisspeptin receptor: signaling, function, and mutations.
Bianco SD et al.
Advances in Experimental Medicine and Biology, 2013
The kisspeptin signaling pathway and its role in human isolated GnRH deficiency.
Wahab F 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
Impact of mutations in kisspeptin and neurokinin B signaling pathways on human reproduction.
Silveira LG et al.
Brain Research, 2010
A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism.
Teles MG et al.
European Journal of Endocrinology, 2010
Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.
Brioude F et al.
European Journal of Endocrinology, 2010
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men.
Chan YM et al.
Peptides, 2009
Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54.
Tenenbaum-Rakover Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
GnRH receptor and GPR54 inactivation in isolated gonadotropic deficiency.
de Roux N
Best Practice & Research. Clinical Endocrinology & Metabolism, 2006
Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism.
Lanfranco F et al.
European Journal of Endocrinology, 2005
[Kisspeptin and leptin in the regulation of fertility].
Pankov YA
Molekuliarnaia Biologiia, 0