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
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Mechanism of hormone and allosteric agonist mediated activation of follicle stimulating hormone receptor.
Duan J et al.
Nature Communications, 2023
Functional characterization of naturally-occurring constitutively activating/inactivating mutations in equine follicle-stimulating hormone receptor.
Byambaragchaa M et al.
Animal Bioscience, 2022
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
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
Pharmacogenetics of FSH Action in the Male.
Schubert M et al.
Frontiers in Endocrinology, 2019
Pharmacogenetics of G-protein-coupled receptors variants: FSH receptor and infertility treatment.
Santi D et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 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
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Constitutive activity in gonadotropin receptors.
Ulloa-Aguirre A et al.
Advances in Pharmacology (san Diego, Calif.), 2014
Spontaneous ovarian hyperstimulation syndrome: case report, pathophysiological classification and diagnostic algorithm.
Panagiotopoulou N et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 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
Molecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndrome.
Uchida S et al.
Plos One, 2013
Pharmacogenetics of follicle-stimulating hormone action.
Laan M et al.
Current Opinion in Endocrinology, Diabetes, and Obesity, 2012
Decreased degradation of internalized follicle-stimulating hormone caused by mutation of aspartic acid 6.30(550) in a protein kinase-CK2 consensus sequence in the third intracellular loop of human follicle-stimulating hormone receptor.
Kluetzman KS et al.
Biology of Reproduction, 2011
G protein-coupled receptors: mutations and endocrine diseases.
Vassart G et al.
Nature Reviews. Endocrinology, 2011
Impact of follicle stimulating hormone receptor variants in fertility.
Lalioti MD
Current Opinion in Obstetrics & Gynecology, 2011
Female mice expressing constitutively active mutants of FSH receptor present with a phenotype of premature follicle depletion and estrogen excess.
Peltoketo H et al.
Endocrinology, 2010
Transgenic mutant D567G but not wild-type human FSH receptor overexpression provides FSH-independent and promiscuous glycoprotein hormone Sertoli cell signaling.
Allan CM et al.
American Journal of Physiology. Endocrinology and Metabolism, 2009
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
Does elevated human chorionic gonadotropin alone trigger spontaneous ovarian hyperstimulation syndrome?
Michaelson-Cohen R et al.
Fertility and Sterility, 2008
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
The specificity of binding of glycoprotein hormones to their receptors.
Caltabiano G et al.
Cellular and Molecular Life Sciences : Cmls, 2008
Molecular pathology of the FSH receptor: new insights into FSH physiology.
Meduri G et al.
Molecular and Cellular Endocrinology, 2008
Association of FSH receptor and CYP19A1 gene variations with sterility and ovarian hyperstimulation syndrome.
Binder H et al.
Reproduction (cambridge, England), 2008
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Mutations along the pituitary-gonadal axis affecting sexual maturation: novel information from transgenic and knockout mice.
Huhtaniemi I
Molecular and Cellular Endocrinology, 2006
Maintenance of spermatogenesis by the activated human (Asp567Gly) FSH receptor during testicular regression due to hormonal withdrawal.
Allan CM et al.
Biology of Reproduction, 2006
Mutations in human gonadotropin and gonadotropin-receptor genes.
Huhtaniemi IT et al.
Endocrine, 2005
The G protein-coupled receptors: pharmacogenetics and disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
Gene expression profiling of mouse Sertoli cell lines.
Strothmann K et al.
Cell and Tissue Research, 2004
Targeted expression of human FSH receptor Asp567Gly mutant mRNA in testis of transgenic mice: role of human FSH receptor promoter.
Nordhoff V et al.
Asian Journal of Andrology, 2003
Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor.
Smits G et al.
The New England Journal of Medicine, 2003
Chimeras of the rat and human FSH receptors (FSHRs) identify residues that permit or suppress transmembrane 6 mutation-induced constitutive activation of the FSHR via rearrangements of hydrophobic interactions between helices 6 and 7.
Tao YX et al.
Molecular Endocrinology (baltimore, Md.), 2002
[Mutations in the follicle-stimulating hormone receptor genes in patients with gonadal dysfunction].
Yamoto M
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
Estrogen deficiency, obesity, and skeletal abnormalities in follicle-stimulating hormone receptor knockout (FORKO) female mice.
Danilovich N et al.
Endocrinology, 2000
Constitutive activation of G protein-coupled receptors as a result of selective substitution of a conserved leucine residue in transmembrane helix III.
Tao YX et al.
Molecular Endocrinology (baltimore, Md.), 2000
Mutations in the follicle-stimulating hormone-beta (FSH beta) and FSH receptor genes in mice and humans.
Layman LC
Seminars in Reproductive Medicine, 2000
Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene.
Arnhold IJ et al.
Fertility and Sterility, 1999
Role of the third intracellular loop for the activation of gonadotropin receptors.
Schulz A et al.
Molecular Endocrinology (baltimore, Md.), 1999
[A study on the role of the transmembrane V to VI regions of the human luteinizing hormone receptor in its constitutive activation].
Kudo M
[hokkaido Igaku Zasshi] the Hokkaido Journal of Medical Science, 1999
Mutations of follicle-stimulating hormone and its receptor: effects on gonadal function.
Huhtaniemi IT et al.
European Journal of Endocrinology, 1998
Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.
Chan WY
Molecular Genetics and Metabolism, 1998
Functional and clinical consequences of mutations in the FSH receptor.
Gromoll J et al.
Molecular and Cellular Endocrinology, 1996
Clinical manifestations of genetic defects affecting gonadotrophins and their receptors.
Conway GS
Clinical Endocrinology, 1996
Transmembrane regions V and VI of the human luteinizing hormone receptor are required for constitutive activation by a mutation in the third intracellular loop.
Kudo M et al.
The Journal of Biological Chemistry, 1996