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
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 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
Mechanism of hormone and allosteric agonist mediated activation of follicle stimulating hormone receptor.
Duan J et al.
Nature Communications, 2023
Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.
Ulloa-Aguirre A 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
Novel FSHR variants causing female resistant ovary syndrome.
Khor S et al.
Molecular Genetics & Genomic Medicine, 2020
Novel FSHR mutations in Han Chinese women with sporadic premature ovarian insufficiency.
Liu H et al.
Molecular and Cellular Endocrinology, 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
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 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
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
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
An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance.
Kuechler A et al.
European Journal of Human Genetics : Ejhg, 2010
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0