Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.T449I
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FSHR

NM_000145.4:p.T449I

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

Follicle-Stimulating Hormone Receptor and Estrogen Receptor Gene Polymorphisms in Women With Discordant Follicle-Stimulating Hormone and Anti-Mullerian Hormone Levels.

Aktaş G et al.

Cureus, 2024

Follicle-stimulating hormone receptor gene polymorphisms of ovarian reserve markers in Romanian population.

Tănase AE et al.

Experimental and Therapeutic Medicine, 2020

Association of FSHR missense mutations with female infertility, in silico investigation of their molecular significance and exploration of possible treatments using virtual screening and molecular dynamics.

Haqiqi H et al.

Analytical Biochemistry, 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

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

Pharmacogenetics of follicle-stimulating hormone action.

Laan M et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 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

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

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

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

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."