Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.T449A
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FSHR

NM_000145.4:p.T449A

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

Mechanism of hormone and allosteric agonist mediated activation of follicle stimulating hormone receptor.

Duan J et al.

Nature Communications, 2023

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

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

How genetic errors in GPCRs affect their function: Possible therapeutic strategies.

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

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

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

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

Absence of follicle-stimulating hormone receptor activating mutations in women with iatrogenic ovarian hyperstimulation syndrome.

d'Alva CB et al.

Fertility and Sterility, 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

Genetic variants of G-protein coupled receptors associated with pubertal disorders.

Suzuki E et al.

Reproductive Medicine and Biology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."