Associated Papers
KISS1R polymorphism rs587777844 (Tyr313His) is linked to female infertility.
Siahpoosh Z et al.
British Journal of Biomedical Science, 2021
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism.
Moalla M et al.
Journal of Assisted Reproduction and Genetics, 2019
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
Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs Adolescent Puberty: Human Genetic Evidence.
Shahab M et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
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
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
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
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
Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54.
Pallais JC et al.
Molecular and Cellular Endocrinology, 2006
Genetic variation in G-protein-coupled receptors--consequences for G-protein-coupled receptors as drug targets.
Tang CM et al.
Expert Opinion on Therapeutic Targets, 2005
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
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.
Semple RK et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
[Kisspeptin and leptin in the regulation of fertility].
Pankov YA
Molekuliarnaia Biologiia, 0