Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.D71Y
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FSHR

NM_000145.4:p.D71Y

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

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

Li XF et al.

Reproductive Biomedicine Online, 2025

Impact of gonadotropin genetic profile and ovarian reserve on controlled ovarian stimulation: data from prospective cohort of the GENOCS trial.

Conforti A et al.

Frontiers in Endocrinology, 2025

A cryptozoospermic infertile male with Y chromosome AZFc microdeletion and low FSH levels due to a simultaneous polymorphism in the FSHB gene: a case report.

Graziani A et al.

Human Reproduction (oxford, England), 2024

Association between sequence variants in the FSHR gene and reproductive outcomes following IVF in predicted normoresponders.

Neves AR et al.

Reproductive Biomedicine Online, 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

Do follicle-stimulating hormone receptor polymorphisms in infertile men influence intracytoplasmic sperm injection outcomes? A prospective cohort study.

Fakih C et al.

Zygote (cambridge, England), 2022

A GWAS in Idiopathic/Unexplained Infertile Men Detects a Genomic Region Determining Follicle-Stimulating Hormone Levels.

Schubert M et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Follicle-stimulating hormone beta subunit and receptor variations in infertile men in Central Black Sea Region of Turkey.

Hekim N et al.

Andrologia, 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

Combined Effects of the FSHR 2039 A/G and FSHR -29 G/A Polymorphisms on Male Reproductive Parameters.

Cannarella R et al.

The World Journal of Men's Health, 2021

The effect of polymorphisms in FSHR and FSHB genes on ovarian response: a prospective multicenter multinational study in Europe and Asia.

Polyzos NP et al.

Human Reproduction (oxford, England), 2021

FSHB and FSHR gene variants exert mild modulatory effect on reproductive hormone levels and testis size but not on semen quality: A study of 2020 men from the general Danish population.

Bang AK et al.

Andrology, 2021

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

Conforti A et al.

Frontiers in Endocrinology, 2021

THE FREQUENCY OF FOLLICLE-STIMULATING HORMONE RECEPTOR 2039A>G GENE POLYMORPHISM AND THE RISK OF MALE INFERTILITY IN ALBANIAN POPULATION.

Shkelzen E et al.

Acta Clinica Croatica, 2020

FSHB -211 G>T Polymorphism as Predictor for TESE Success in Patients With Unexplained Azoospermia.

Busch AS et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Effects of a Polymorphism in the Promoter Region of the Follicle-Stimulating Hormone Subunit Beta (FSHB) Gene on Female Reproductive Outcomes.

Trevisan CM et al.

Genetic Testing and Molecular Biomarkers, 2019

Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.

Day F et al.

Plos Genetics, 2018

30566500 (PubMed )
Supplement: pgen.1007813.s001.docx

FSHB -211 G>T is a major genetic modulator of reproductive physiology and health in childbearing age women.

Rull K et al.

Human Reproduction (oxford, England), 2018

Is the FSHR 2039A>G variant associated with susceptibility to testicular germ cell cancer?

Bang AK et al.

Andrology, 2018

The susceptibility of FSHB -211G > T and FSHR G-29A, 919A > G, 2039A > G polymorphisms to men infertility: an association study and meta-analysis.

Wu Q et al.

Bmc Medical Genetics, 2017

Association of follicle-stimulating hormone receptor single nucleotide polymorphisms with fertility in Greek men.

Tsitlakidis D et al.

Journal of Endocrinological Investigation, 2017

Genetic Variation of Follicle-Stimulating Hormone Action Is Associated With Age at Testicular Growth in Boys.

Busch AS et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Treatment with human, recombinant FSH improves sperm DNA fragmentation in idiopathic infertile men depending on the FSH receptor polymorphism p.N680S: a pharmacogenetic study.

Simoni M et al.

Human Reproduction (oxford, England), 2016

Genetic Variations in FSH Action Affect Sex Hormone Levels and Breast Tissue Size in Infant Girls: A Pilot Study.

Henriksen LS et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause and impact female reproductive health.

Ruth KS et al.

Human Reproduction (oxford, England), 2016

Effect of follicle-stimulating hormone receptor Asn680Ser polymorphism on the outcomes of controlled ovarian hyperstimulation: an updated meta-analysis of 16 cohort studies.

Tang H et al.

Journal of Assisted Reproduction and Genetics, 2015

Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations.

Hayes MG et al.

Nature Communications, 2015

The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome.

Busch AS et al.

European Journal of Human Genetics : Ejhg, 2015

'Carriers of variant luteinizing hormone (V-LH) among 1593 Baltic men have significantly higher serum LH'.

Punab AM et al.

Andrology, 2015

Mechanisms in endocrinology: Genetics of FSH action: a 2014-and-beyond view.

Simoni M et al.

European Journal of Endocrinology, 2014

Genetic and molecular diagnostics of male infertility in the clinical practice.

Pizzol D et al.

Frontiers in Bioscience (landmark Edition), 2014

Reproductive physiology in young men is cumulatively affected by FSH-action modulating genetic variants: FSHR -29G/A and c.2039 A/G, FSHB -211G/T.

Grigorova M et al.

Plos One, 2014

FSHB-211 and FSHR 2039 are associated with serum levels of follicle-stimulating hormone and antimüllerian hormone in healthy girls: a longitudinal cohort study.

Hagen CP et al.

Fertility and Sterility, 2013

Alterations of the FSH and LH receptor genes and evaluation of sperm ultrastructure in men with idiopathic hypergonadotropic hypogonadism.

Collodel G et al.

Journal of Assisted Reproduction and Genetics, 2013

The combination of genetic variants of the FSHB and FSHR genes affects serum FSH in women of reproductive age.

La Marca A et al.

Human Reproduction (oxford, England), 2013

Polymorphisms in gonadotropin and gonadotropin receptor genes as markers of ovarian reserve and response in in vitro fertilization.

La Marca A et al.

Fertility and Sterility, 2013

Study in 1790 Baltic men: FSHR Asn680Ser polymorphism affects total testes volume.

Grigorova M et al.

Andrology, 2013

Combined effects of the variants FSHB -211G>T and FSHR 2039A>G on male reproductive parameters.

Tüttelmann F et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

Pharmacogenetics of follicle-stimulating hormone action.

Laan M et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2012

Genetically determined dosage of follicle-stimulating hormone (FSH) affects male reproductive parameters.

Grigorova M et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

Genomics and genetics of gonadotropin beta-subunit genes: Unique FSHB and duplicated LHB/CGB loci.

Nagirnaja L et al.

Molecular and Cellular Endocrinology, 2010

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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."