Associated Papers
Advances in monogenic female infertility.
Gu H et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
A Novel KISS1R Loss-of-function Variant in a Chinese Child with Congenital Hypogonadotropic Hypogonadism
Zhou P et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.
Saengkaew T et al.
European Journal of Endocrinology, 2021
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
MKRN3 and KISS1R mutations in precocious and early puberty.
Pagani S et al.
Italian Journal of Pediatrics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
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
Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation.
Brioude F et al.
Plos One, 2013
Molecular biology of the kisspeptin receptor: signaling, function, and mutations.
Bianco SD et al.
Advances in Experimental Medicine and Biology, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Familial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature.
Shekhar S
Bmj Case Reports, 2012
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 genetic control of puberty onset].
de Roux N et al.
Bulletin De L'academie Nationale De Medecine, 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
KISS1R intracellular trafficking and degradation: effect of the Arg386Pro disease-associated mutation.
Bianco SD et al.
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
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
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.
Gianetti E et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans.
Young J et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
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
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
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54.
de Roux N et al.
Proceedings of the National Academy of Sciences of the United States of America, 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