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
The genetic basis of male and female infertility.
Ioannou D et al.
Systems Biology in Reproductive Medicine, 2025
Advances in monogenic female infertility.
Gu H et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 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
Functional Divergence for N-Linked Glycosylation Sites in Equine Lutropin/Choriogonadotropin Receptors.
Byambaragchaa M et al.
Current Issues in Molecular Biology, 2025
The N-Linked Glycosylation Site N201 in eel Lutropin/Choriogonadotropin Receptor Is Uniquely Indispensable for cAMP Responsiveness and Receptor Surface Loss, but Not pERK1/2 Activity.
Byambaragchaa M et al.
Current Issues in Molecular Biology, 2025
The N-Linked Glycosylation Asn191 and Asn199 Sites Are Controlled Differently Between PKA Signal Transduction and pEKR1/2 Activity in Equine Follicle-Stimulating Hormone Receptor.
Kim SH et al.
Current Issues in Molecular Biology, 2025
Infertility management in resistant ovary syndrome: a review.
Yi H et al.
Frontiers in Endocrinology, 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
Restoring function to inactivating G protein-coupled receptor variants in the hypothalamic-pituitary-gonadal axis1.
Radomsky T et al.
Journal of Neuroendocrinology, 2024
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
The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea.
Yoo S et al.
Annals of Pediatric Endocrinology & Metabolism, 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
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 2022
Human pluripotent stem cell-derived cells endogenously expressing follicle-stimulating hormone receptors: modeling the function of an inactivating receptor mutation.
Lundin K et al.
Molecular Human Reproduction, 2022
Functional characterization of naturally-occurring constitutively activating/inactivating mutations in equine follicle-stimulating hormone receptor.
Byambaragchaa M et al.
Animal Bioscience, 2022
Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.
Ulloa-Aguirre A et al.
Frontiers in Endocrinology, 2022
Identification and characterization of novel compound heterozygous variants in FSHR causing primary ovarian insufficiency with resistant ovary syndrome.
Chen X et al.
Frontiers in Endocrinology, 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
Pharmacogenomic Biomarkers of Follicle-Stimulating Hormone Receptor Malfunction in Females with Impaired Ovarian Response-A Genetic Survey.
Tafazoli A et al.
Journal of Clinical Medicine, 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
Follicle-stimulating hormone receptor gene polymorphisms of ovarian reserve markers in Romanian population.
Tănase AE et al.
Experimental and Therapeutic Medicine, 2020
Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis.
Sassi A et al.
F&s Reports, 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
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Genetics of human female infertility†.
Yatsenko SA et al.
Biology of Reproduction, 2019
Novel FSHR mutations in Han Chinese women with sporadic premature ovarian insufficiency.
Liu H et al.
Molecular and Cellular Endocrinology, 2019
D224V and S128Y mutation in FSHRED influence thumb movement differentially: An intricate insight gained by short-term molecular dynamics simulation.
Gharemirshamlu FR et al.
Journal of Cellular Biochemistry, 2019
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
Pharmacoperone drugs: targeting misfolded proteins causing lysosomal storage-, ion channels-, and G protein-coupled receptors-associated conformational disorders.
Hou ZS et al.
Expert Review of Clinical Pharmacology, 2018
Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels.
Cunha-Silva M et al.
Human Reproduction (oxford, England), 2018
Pharmacogenetics of G-protein-coupled receptors variants: FSH receptor and infertility treatment.
Santi D et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2018
The Impact of Genetic Variation and Gene Expression Level of The Follicle-Stimulating Hormone Receptor on Ovarian Reserve.
Ghezelayagh Z et al.
Cell Journal, 2018
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
Association of follicle-stimulating hormone receptor single nucleotide polymorphisms with fertility in Greek men.
Tsitlakidis D et al.
Journal of Endocrinological Investigation, 2017
Brain-derived neurotrophic factor promotes human granulosa-like tumor cell steroidogenesis and proliferation by activating the FSH receptor-mediated signaling pathway.
Xie M et al.
Scientific Reports, 2017
Genetics of primary ovarian insufficiency.
Rossetti R et al.
Clinical Genetics, 2017
A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.
França MM et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017
Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum.
Tucker EJ et al.
Endocrine Reviews, 2016