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
A FSHR missense variant associated with polycystic ovary syndrome in an Iranian family with multiple affected sisters.
Behrafigh M et al.
Molecular Biology Reports, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
FSH Receptor Variant: An Unusual Cause of Secondary Amenorrhea.
Cooper OO et al.
Journal of Pediatric and Adolescent Gynecology, 2025
Women with FSHR-inactivating mutations causing resistant ovarian syndrome benefit from oocyte in-vitro maturation.
Li XF et al.
Reproductive Biomedicine Online, 2025
Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian Insufficiency.
Lokchine A et al.
American Journal of Medical Genetics. Part A, 2025
The Impact of FSHR Polymorphisms (rs6165 and rs6166) on Ovarian Response to Stimulation in Infertile Women with Diminished Ovarian Reserve.
Hoang TTT et al.
The Application of Clinical Genetics, 2025
Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study.
Mahey R et al.
Journal of Human Genetics, 2024
Follicle-Stimulating Hormone Receptor and Estrogen Receptor Gene Polymorphisms in Women With Discordant Follicle-Stimulating Hormone and Anti-Mullerian Hormone Levels.
Aktaş G et al.
Cureus, 2024
The Ala307Thr polymorphism of the follicle-stimulating hormone receptor (FSHR) gene is associated with the dose of recombinant FSH received during IVF/ICSI treatment.
Dieamant F et al.
Jbra Assisted Reproduction, 2023
Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management.
Yang X et al.
Frontiers in Medicine, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
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
Utilization of in vitro maturation in cases with a FSH receptor mutation.
Benammar A et al.
Journal of Assisted Reproduction and Genetics, 2021
Follicle-stimulating hormone receptor gene polymorphisms of ovarian reserve markers in Romanian population.
Tănase AE et al.
Experimental and Therapeutic Medicine, 2020
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
Pharmacoperones for Misfolded Gonadotropin Receptors.
Newton CL 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
Structure-Function Relationships of the Follicle-Stimulating Hormone Receptor.
Ulloa-Aguirre A et al.
Frontiers in Endocrinology, 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
Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.
Laissue P
Molecular and Cellular Endocrinology, 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
Association of rs6166 polymorphism with FSH receptor transcript variants and steroid production in human granulosa cell cultures.
Zalewski G et al.
Systems Biology in Reproductive Medicine, 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
Molecular characterization and identification of a novel polymorphism of 200 bp indel associated with age at first egg of the promoter region in chicken follicle-stimulating hormone receptor (FSHR) gene.
Kang L et al.
Molecular Biology Reports, 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
Genes governing premature ovarian failure.
Dixit H et al.
Reproductive Biomedicine Online, 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
Molecular pathology of the FSH receptor: new insights into FSH physiology.
Meduri G et al.
Molecular and Cellular Endocrinology, 2008
BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure.
Ledig S et al.
American Journal of Obstetrics and Gynecology, 2008
Association of FSH receptor and CYP19A1 gene variations with sterility and ovarian hyperstimulation syndrome.
Binder H et al.
Reproduction (cambridge, England), 2008
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
Structural analysis of leucine-rich-repeat variants in proteins associated with human diseases.
Matsushima N et al.
Cellular and Molecular Life Sciences : Cmls, 2005
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