Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.S680N
Back to variants list

FSHR

NM_000145.4:p.S680N

Associated Papers

Genetic epistasis in FSH action influences female reproductive lifespan.

Kordes GP et al.

Reproduction (cambridge, England), 2026

Descriptive overview of gene variants potentially affecting female infertility treatments: A systematic review.

Martinez-Martinez A et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2026

The Impact of FSHR Mutations on Female Ovarian Function and Pregnancy Outcomes: A Systematic Review.

Qu Z et al.

Biology of Reproduction, 2025

The impact of genetic variants in folliculogenesis and steroidogenesis pathways on ovarian response: a post hoc multicenter multiethnic cohort study.

Neves AR et al.

Journal of Assisted Reproduction and Genetics, 2025

Novel SNP Combination for Predictive Osteoporotic Diagnosis.

Sopova JV et al.

International Journal of Molecular Sciences, 2025

Women with FSHR-inactivating mutations causing resistant ovarian syndrome benefit from oocyte in-vitro maturation.

Li XF et al.

Reproductive Biomedicine Online, 2025

Infertility management in resistant ovary syndrome: a review.

Yi H et al.

Frontiers in Endocrinology, 2025

The Impact of FSHR Polymorphisms (rs6165 and rs6166) on Ovarian Response to Stimulation in Infertile Women with Diminished Ovarian Reserve.

Hoang TTT et al.

The Application of Clinical Genetics, 2025

Testing the role of unstimulated in vitro maturation for potential development of immature oocytes in women with oocyte maturation abnormalities

Kalyoncu Ş et al.

Journal of the Turkish German Gynecological Association, 2024

The Additive Effect of Combinations of FSH Receptor Gene Variants in Ovarian Response to Stimulation.

Neves AR et al.

Reproductive Sciences (thousand Oaks, Calif.), 2024

The relationship between primary ovarian insufficiency and gene variations: a prospective case-control study.

Gündüz R et al.

Women & Health, 2024

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Genetic Variants of Steroidogenesis and Gonadotropin Pathways and Polycystic Ovary Syndrome Susceptibility: A Systematic Review and Meta-analysis.

Sharma P et al.

Metabolic Syndrome and Related Disorders, 2024

Involvement of SYCP2L and TDRD3 gene variants on ovarian reserve and reproductive outcomes: a cross-sectional study.

Rosa IR et al.

Jbra Assisted Reproduction, 2023

Polymorphisms in FSHR modulating susceptibility to polycystic ovary syndrome: an updated meta-analysis.

Kaur M et al.

Journal of Ovarian Research, 2023

Molecular Role of Asn680Ser and Asp37Glu Missense Variants in Saudi Women with Female Infertility and Polycystic Ovarian Syndrome.

Alshammary AF et al.

Current Issues in Molecular Biology, 2023

The Effect of the Allelics of Ser680Asn Polymorphisms of Follicle-Stimulating Hormone Receptor Gene in IVF/ICSI Cycles: a Systematic Review and Meta-analysis.

Prodromidou A et al.

Reproductive Sciences (thousand Oaks, Calif.), 2023

Cytogenetic screening of chromosomal abnormalities and genetic analysis of FSH receptor Ala307Thr and Ser680Asn genes in amenorrheic patients.

Kanaan BA et al.

Peerj, 2023

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

Yang X et al.

Frontiers in Medicine, 2023

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.

Pape K et al.

Cancers, 2022

36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204

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

Byambaragchaa M et al.

Animal Bioscience, 2022

Mutational Landscape Screening Through Comprehensive In Silico Analysis for Polycystic Ovarian Syndrome-Related Genes.

Dhar S et al.

Reproductive Sciences (thousand Oaks, Calif.), 2022

Individual and Combined Assessment of Ser680Asn FSH Receptor and FSHβ-211 G>T Gene Polymorphisms in Ovarian Response in IVF/ICSI Program.

Anagnostou E et al.

Current Pharmaceutical Biotechnology, 2021

Variants Ala307Ala and Ser680Ser of 307 and 680 FSHr polymorphisms negatively influence on assisted reproductive techniques outcome and determine high probability of non-pregnancy in Caucasian patients.

Monge-Ochoa B et al.

Journal of Assisted Reproduction and Genetics, 2021

A Comprehensive Overview of Common Polymorphic Variants in Genes Related to Polycystic Ovary Syndrome.

Castillo-Higuera T et al.

Reproductive Sciences (thousand Oaks, Calif.), 2021

Associations of FSHR and LHCGR gene variants with ovarian reserve and clinical pregnancy rates.

Guo C et al.

Reproductive Biomedicine Online, 2021

Utilization of in vitro maturation in cases with a FSH receptor mutation.

Benammar A et al.

Journal of Assisted Reproduction and Genetics, 2021

Reduced FSH and LH action: implications for medically assisted reproduction.

Bosch E et al.

Human Reproduction (oxford, England), 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

One4Two®: An Integrated Molecular Approach to Optimize Infertile Couples' Journey.

D'Argenio V et al.

Genes, 2021

Investigation of the FSHR, CYP11, and INSR Mutations and Polymorphisms in Iranian Infertile Women with Polycystic Ovary Syndrome (PCOS).

Seyed Abutorabi E et al.

Reports of Biochemistry & Molecular Biology, 2021

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

Effect of Genetic Variants of Gonadotropins and Their Receptors on Ovarian Stimulation Outcomes: A Delphi Consensus.

Conforti A et al.

Frontiers in Endocrinology, 2021

Epigenetics and genomics in Klinefelter syndrome.

Skakkebaek A et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

The effects of follicle-stimulating hormone receptor (FSHR) -29 and Ser680Asn polymorphisms in IVF/ICSI.

Paschalidou C et al.

Hormone Molecular Biology and Clinical Investigation, 2020

Oncology and Pharmacogenomics Insights in Polycystic Ovary Syndrome: An Integrative Analysis.

Yumiceba V et al.

Frontiers in Endocrinology, 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

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S001

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

Liu H et al.

Molecular and Cellular Endocrinology, 2019

1–50 of 157 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."