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
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
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Ovarian hyperstimulation syndrome in a spontaneous pregnancy with invasive mole.
Wu X et al.
The Journal of Obstetrics and Gynaecology Research, 2015
A case of ovarian torsion in a patient carrier of a FSH receptor gene mutation previously affected by spontaneous ovarian hyperstimulation syndrome.
Di Carlo C et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2015
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
Normal testicular function without detectable follicle-stimulating hormone. A novel mutation in the follicle-stimulating hormone receptor gene leading to apparent constitutive activity and impaired agonist-induced desensitization and internalization.
Casas-González P et al.
Molecular and Cellular Endocrinology, 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
Two different entities of spontaneous ovarian hyperstimulation in a woman with FSH receptor mutation.
Dieterich M et al.
Reproductive Biomedicine Online, 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
Molecular pathology of the FSH receptor: new insights into FSH physiology.
Meduri G et al.
Molecular and Cellular Endocrinology, 2008
Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome.
De Leener A et al.
Human Mutation, 2008
Association of FSH receptor and CYP19A1 gene variations with sterility and ovarian hyperstimulation syndrome.
Binder H et al.
Reproduction (cambridge, England), 2008
Absence of mutation in the follicle-stimulating hormone receptor gene in severe primary hypothyroidism associated with gonadal hyperstimulation.
Suarez EA et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2007
Exclusion of coding-region mutations in luteinizing hormone and follicle-stimulating hormone receptor genes as the cause of ovarian hyperstimulation syndrome.
Kerkelä E et al.
Fertility and Sterility, 2007
Mechanisms of disease: Mutations of G proteins and G-protein-coupled receptors in endocrine diseases.
Lania AG et al.
Nature Clinical Practice. Endocrinology & Metabolism, 2006
GRIS: glycoprotein-hormone receptor information system.
Van Durme J et al.
Molecular Endocrinology (baltimore, Md.), 2006
Absence of follicle-stimulating hormone receptor activating mutations in women with iatrogenic ovarian hyperstimulation syndrome.
d'Alva CB et al.
Fertility and Sterility, 2005
Mutations in human gonadotropin and gonadotropin-receptor genes.
Huhtaniemi IT et al.
Endocrine, 2005
Modulation of ligand selectivity associated with activation of the transmembrane region of the human follitropin receptor.
Montanelli L et al.
Molecular Endocrinology (baltimore, Md.), 2004
A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome.
Montanelli L et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome.
Montanelli L et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor.
Smits G et al.
The New England Journal of Medicine, 2003
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0