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
Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9.
Helderman NC et al.
Hgg Advances, 2025
Recent Applications of In Silico Approaches for Studying Receptor Mutations Associated with Human Pathologies.
Pappalardo M et al.
Molecules (basel, Switzerland), 2024
MCM9 compound heterozygosity in an adolescent with premature ovarian insufficiency.
Nauwynck E et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2024
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 landscape of genetic variations in non-syndromic primary ovarian insufficiency in the MENA region: a systematic review.
Allouch A et al.
Frontiers in Endocrinology, 2023
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
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
Molecular dynamics simulation of the follicle-stimulating hormone receptor. Understanding the conformational dynamics of receptor variants at positions N680 and D408 from in silico analysis.
Jardón-Valadez E et al.
Plos One, 2018
Structure-Function Relationships of the Follicle-Stimulating Hormone Receptor.
Ulloa-Aguirre A et al.
Frontiers in Endocrinology, 2018
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
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