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
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
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
Extracellular loop 3 substitutions K589N and A590S in FSH receptor increase FSH-induced receptor internalization and along with S588T substitution exhibit impaired ERK1/2 phosphorylation.
Banerjee AA et al.
Archives of Biochemistry and Biophysics, 2018
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
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
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
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
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
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
Molecular pathology of the FSH receptor: new insights into FSH physiology.
Meduri G et al.
Molecular and Cellular Endocrinology, 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
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
[Mutations in the follicle-stimulating hormone receptor genes in patients with gonadal dysfunction].
Yamoto M
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
No evidence of mutations in the follicle-stimulating hormone receptor gene in Mexican women with 46,XX pure gonadal dysgenesis.
de la Chesnaye E et al.
American Journal of Medical Genetics, 2001
Follicle-stimulating hormone receptor gene mutations are rare in Japanese women with premature ovarian failure and polycystic ovary syndrome.
Takakura K et al.
Fertility and Sterility, 2001
Mutations in the follicle-stimulating hormone-beta (FSH beta) and FSH receptor genes in mice and humans.
Layman LC
Seminars in Reproductive Medicine, 2000
New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype.
Touraine P et al.
Molecular Endocrinology (baltimore, Md.), 1999
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0