Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.I545T
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FSHR

NM_000145.4:p.I545T

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

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

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

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

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

Pharmacogenetics of follicle-stimulating hormone action.

Laan M et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2012

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

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."