Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.A575V
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FSHR

NM_000145.4:p.A575V

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

LGR4: A New Receptor Member in Endocrine and Metabolic Diseases.

Zhang N et al.

Endocrine Reviews, 2023

The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea.

Yoo S et al.

Annals of Pediatric Endocrinology & Metabolism, 2023

Functional characterization of naturally-occurring constitutively activating/inactivating mutations in equine follicle-stimulating hormone receptor.

Byambaragchaa M et al.

Animal Bioscience, 2022

Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.

Ulloa-Aguirre A et al.

Frontiers in Endocrinology, 2022

Rescue of Cell Surface Expression and Signaling of Mutant Follicle-Stimulating Hormone Receptors.

Hanyroup S et al.

Endocrinology, 2021

Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.

Ulloa-Aguirre A et al.

International Journal of Molecular Sciences, 2021

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

Novel FSHR mutations in Han Chinese women with sporadic premature ovarian insufficiency.

Liu H et al.

Molecular and Cellular Endocrinology, 2019

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

Pharmacoperones for Misfolded Gonadotropin Receptors.

Newton CL et al.

Handbook of Experimental Pharmacology, 2018

Relationship between polymorphisms in exon 10 of FSHR gene and litter size in swine.

Zhang XD et al.

Genetics and Molecular Research : Gmr, 2015

Novel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian Failure.

Katari S et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Functional characterization of two naturally occurring mutations (Val514Ala and Ala575Val) in follicle-stimulating hormone receptor.

Desai SS et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

[CYTOGENETIC ANALYSIS OF PATIENTS WITH PRIMARY AMENORRHEA].

Stoyanova V et al.

Akusherstvo I Ginekologiia, 2015

Pharmacogenetics of follicle-stimulating hormone action.

Laan M et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2012

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."