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
Restoring function to inactivating G protein-coupled receptor variants in the hypothalamic-pituitary-gonadal axis1.
Radomsky T et al.
Journal of Neuroendocrinology, 2024
Structural basis for hormone recognition and distinctive Gq protein coupling by the kisspeptin receptor.
Shen S et al.
Cell Reports, 2024
Review of human genetic and clinical studies directly relevant to GnRH signalling.
Seminara SB et al.
Journal of Neuroendocrinology, 2022
KISS1R polymorphism rs587777844 (Tyr313His) is linked to female infertility.
Siahpoosh Z et al.
British Journal of Biomedical Science, 2021
Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.
Yang LK et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Transcriptional activity of FIGLA, NEUROG2, and EGR1 transcription factors associated with polymorphisms in the proximal regulatory region of GPR54 gene in cattle.
Cheng J et al.
Animal Reproduction Science, 2020
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
Conformational Change in the Ligand-Binding Pocket via a KISS1R Mutation (P147L) Leads to Isolated Gonadotropin-Releasing Hormone Deficiency.
Shimizu K et al.
Journal of the Endocrine Society, 2017
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
Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of Reproduction.
Min L et al.
Neuroendocrinology, 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
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
Disease-causing mutation in PKR2 receptor reveals a critical role of positive charges in the second intracellular loop for G-protein coupling and receptor trafficking.
Peng Z et al.
The Journal of Biological Chemistry, 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
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
Disease-causing mutation in GPR54 reveals the importance of the second intracellular loop for class A G-protein-coupled receptor function.
Wacker JL et al.
The Journal of Biological Chemistry, 2008
Kisspeptin and GPR54: discovery of a novel pathway in reproduction.
Seminara SB et al.
Journal of Neuroendocrinology, 2008
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
Human genetics of GPR54.
Cerrato F et al.
Reviews in Endocrine & Metabolic Disorders, 2007
GnRH receptor and GPR54 inactivation in isolated gonadotropic deficiency.
de Roux N
Best Practice & Research. Clinical Endocrinology & Metabolism, 2006
Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.
Cerrato F et al.
European Journal of Endocrinology, 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
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
Molecular genetics of isolated hypogonadotropic hypogonadism and Kallmann syndrome.
Karges B et al.
Endocrine Development, 2005
New insights in the genetics of isolated hypogonadotropic hypogonadism.
Iovane A et al.
European Journal of Endocrinology, 2004
The GPR54 gene as a regulator of puberty.
Seminara SB et al.
The New England Journal of Medicine, 2003
[Kisspeptin and leptin in the regulation of fertility].
Pankov YA
Molekuliarnaia Biologiia, 0
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0