Associated Papers
The Impact of FSHR Mutations on Female Ovarian Function and Pregnancy Outcomes: A Systematic Review.
Qu Z et al.
Biology of Reproduction, 2025
FSH Receptor Variant: An Unusual Cause of Secondary Amenorrhea.
Cooper OO et al.
Journal of Pediatric and Adolescent Gynecology, 2025
Functional characterization of naturally-occurring constitutively activating/inactivating mutations in equine follicle-stimulating hormone receptor.
Byambaragchaa M et al.
Animal Bioscience, 2022
Rescue of Cell Surface Expression and Signaling of Mutant Follicle-Stimulating Hormone Receptors.
Hanyroup S et al.
Endocrinology, 2021
Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.
Ulloa-Aguirre A et al.
International Journal of Molecular Sciences, 2021
Utilization of in vitro maturation in cases with a FSH receptor mutation.
Benammar A et al.
Journal of Assisted Reproduction and Genetics, 2021
A Novel Mutation in the FSH Receptor (I423T) Affecting Receptor Activation and Leading to Primary Ovarian Failure.
Zariñán T et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Constitutive Activation and Inactivation of Mutations Inducing Cell Surface Loss of Receptor and Impairing of Signal Transduction of Agonist-Stimulated Eel Follicle-Stimulating Hormone Receptor.
Byambaragchaa M et al.
International Journal of Molecular Sciences, 2020
Novel FSHR variants causing female resistant ovary syndrome.
Khor S et al.
Molecular Genetics & Genomic Medicine, 2020
Successful in vitro maturation of oocytes in a woman with gonadotropin-resistant ovary syndrome associated with a novel combination of FSH receptor gene variants: a case report.
Flageole C et al.
Journal of Assisted Reproduction and Genetics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Intracellular Trafficking of Gonadotropin Receptors in Health and Disease.
Ulloa-Aguirre A et al.
Handbook of Experimental Pharmacology, 2018
Spontaneous Ovarian Hyperstimulation Syndrome with FSH Receptor Gene Mutation: Two Rare Case Reports.
Topdagi Yilmaz EP et al.
Case Reports in Obstetrics and Gynecology, 2018
A novel homozygous mutation in the FSHR gene is causative for primary ovarian insufficiency.
Liu H et al.
Fertility and Sterility, 2017
Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum.
Tucker EJ et al.
Endocrine Reviews, 2016
A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.
Bramble MS et al.
Human Reproduction (oxford, England), 2016
Structure-Based Sequence Alignment of the Transmembrane Domains of All Human GPCRs: Phylogenetic, Structural and Functional Implications.
Cvicek V et al.
Plos Computational Biology, 2016
Single nucleotide polymorphisms in premature ovarian failure-associated genes in a Chinese Hui population.
Ma L et al.
Molecular Medicine Reports, 2015
Relationship between polymorphisms in exon 10 of FSHR gene and litter size in swine.
Zhang XD et al.
Genetics and Molecular Research : Gmr, 2015
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Mutations in G protein-coupled receptors that impact receptor trafficking and reproductive function.
Ulloa-Aguirre A et al.
Molecular and Cellular Endocrinology, 2014
Alterations of the FSH and LH receptor genes and evaluation of sperm ultrastructure in men with idiopathic hypergonadotropic hypogonadism.
Collodel G et al.
Journal of Assisted Reproduction and Genetics, 2013
FSH receptor gene variants are rarely associated with premature ovarian failure.
Woad KJ et al.
Reproductive Biomedicine Online, 2013
The molecular basis of impaired follicle-stimulating hormone action: evidence from human mutations and mouse models.
Siegel ET et al.
Reproductive Sciences (thousand Oaks, Calif.), 2013
Pharmacogenetics of follicle-stimulating hormone action.
Laan M et al.
Current Opinion in Endocrinology, Diabetes, and Obesity, 2012
Assessment of FSHR variants and antimüllerian hormone in infertility patients with a reduced ovarian response to gonadotropin stimulation.
Binder H et al.
Fertility and Sterility, 2012
Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea.
Achrekar SK et al.
Journal of Assisted Reproduction and Genetics, 2010
Mutations and polymorphisms of the FSH receptor (FSHR) gene: clinical implications in female fecundity and molecular biology of FSHR protein and gene.
Lussiana C et al.
Obstetrical & Gynecological Survey, 2008
A novel mutation in exon8 of the follicle-stimulating hormone receptor in a woman with primary amenorrhea.
Nakamura Y et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2008
Screening of follicle-stimulating hormone receptor gene in women with premature ovarian failure in southern Brazil and associations with phenotype.
Vilodre LC et al.
Journal of Endocrinological Investigation, 2008
Pharmacogenetics in ovarian stimulation--current concepts.
Loutradis D et al.
Annals of the New York Academy of Sciences, 2008
Molecular pathology of the FSH receptor: new insights into FSH physiology.
Meduri G et al.
Molecular and Cellular Endocrinology, 2008
Association of FSH receptor and CYP19A1 gene variations with sterility and ovarian hyperstimulation syndrome.
Binder H et al.
Reproduction (cambridge, England), 2008
G protein-coupled receptor trafficking in health and disease: lessons learned to prepare for therapeutic mutant rescue in vivo.
Conn PM et al.
Pharmacological Reviews, 2007
Gonadotrophin resistance.
Huhtaniemi I et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2006
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Follicle-stimulating hormone receptor gene mutations are not evident in Greek women with premature ovarian failure and poor responders.
Loutradis D et al.
Gynecologic and Obstetric Investigation, 2006
Mutations in human gonadotropin and gonadotropin-receptor genes.
Huhtaniemi IT et al.
Endocrine, 2005
Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF).
Sundblad V et al.
Molecular and Cellular Endocrinology, 2004
A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.
Allen LA et al.
Human Reproduction (oxford, England), 2003
Functional characterization of the human FSH receptor with an inactivating Ala189Val mutation.
Rannikko A et al.
Molecular Human Reproduction, 2002
A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure.
Doherty E et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Human gene mutations causing infertility.
Layman LC
Journal of Medical Genetics, 2002
[Mutations in the follicle-stimulating hormone receptor genes in patients with gonadal dysfunction].
Yamoto M
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
No evidence of mutations in the follicle-stimulating hormone receptor gene in Mexican women with 46,XX pure gonadal dysgenesis.
de la Chesnaye E et al.
American Journal of Medical Genetics, 2001
Follicle-stimulating hormone receptor gene mutations are rare in Japanese women with premature ovarian failure and polycystic ovary syndrome.
Takakura K et al.
Fertility and Sterility, 2001
Mutations in the follicle-stimulating hormone-beta (FSH beta) and FSH receptor genes in mice and humans.
Layman LC
Seminars in Reproductive Medicine, 2000
New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype.
Touraine P et al.
Molecular Endocrinology (baltimore, Md.), 1999
A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor.
Beau I et al.
The Journal of Clinical Investigation, 1998
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0