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 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
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
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY et al.
Human Reproduction Update, 2021
Novel FSHR variants causing female resistant ovary syndrome.
Khor S et al.
Molecular Genetics & Genomic Medicine, 2020
Association of FSHR missense mutations with female infertility, in silico investigation of their molecular significance and exploration of possible treatments using virtual screening and molecular dynamics.
Haqiqi H et al.
Analytical 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
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
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
Relationship between polymorphisms in exon 10 of FSHR gene and litter size in swine.
Zhang XD et al.
Genetics and Molecular Research : Gmr, 2015
Novel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian Failure.
Katari S et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
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
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
Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II.
Kossack N et al.
Molecular and Cellular Endocrinology, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Fine-mapping an association of FSHR with preterm birth in a Finnish population.
Chun S et al.
Plos One, 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
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
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
Recent developments in identifying genetic determinants of premature ovarian failure.
Skillern A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 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
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
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
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0