Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.R59*
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FSHR

NM_000145.4:p.R59*

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

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Mutational landscape of inflammatory breast cancer.

Bertucci F et al.

Journal of Translational Medicine, 2024

38637846 (PubMed )
Supplement: 12967_2024_5198_MOESM3_ESM.xlsx › Table_S3

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

Landscape of pathogenic mutations in premature ovarian insufficiency.

Ke H et al.

Nature Medicine, 2023

36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9

Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management.

Yang X et al.

Frontiers in Medicine, 2023

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

Byambaragchaa M et al.

Animal Bioscience, 2022

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

Ulloa-Aguirre A et al.

International Journal of Molecular Sciences, 2021

A Novel Mutation in the FSH Receptor (I423T) Affecting Receptor Activation and Leading to Primary Ovarian Failure.

Zariñán T et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Pharmacogenomic Biomarkers of Follicle-Stimulating Hormone Receptor Malfunction in Females with Impaired Ovarian Response-A Genetic Survey.

Tafazoli A et al.

Journal of Clinical Medicine, 2021

Novel FSHR variants causing female resistant ovary syndrome.

Khor S et al.

Molecular Genetics & Genomic Medicine, 2020

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

Liu H et al.

Molecular and Cellular Endocrinology, 2019

A novel homozygous mutation in the FSHR gene is causative for primary ovarian insufficiency.

Liu H et al.

Fertility and Sterility, 2017

Premature Ovarian Insufficiency: Phenotypic Characterization Within Different Etiologies.

Jiao X et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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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."