Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.P348R
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FSHR

NM_000145.4:p.P348R

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

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

Mechanism of hormone and allosteric agonist mediated activation of follicle stimulating hormone receptor.

Duan J et al.

Nature Communications, 2023

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

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

Benammar A et al.

Journal of Assisted Reproduction and Genetics, 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

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

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

Liu H et al.

Fertility and Sterility, 2017

A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.

Bramble MS et al.

Human Reproduction (oxford, England), 2016

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

How genetic errors in GPCRs affect their function: Possible therapeutic strategies.

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

FSH receptor gene variants are rarely associated with premature ovarian failure.

Woad KJ et al.

Reproductive Biomedicine Online, 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

Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea.

Achrekar SK et al.

Journal of Assisted Reproduction and Genetics, 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

A novel mutation in exon8 of the follicle-stimulating hormone receptor in a woman with primary amenorrhea.

Nakamura Y et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2008

Screening of follicle-stimulating hormone receptor gene in women with premature ovarian failure in southern Brazil and associations with phenotype.

Vilodre LC et al.

Journal of Endocrinological Investigation, 2008

Pharmacogenetics in ovarian stimulation--current concepts.

Loutradis D et al.

Annals of the New York Academy of Sciences, 2008

Molecular pathology of the FSH receptor: new insights into FSH physiology.

Meduri G et al.

Molecular and Cellular Endocrinology, 2008

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 2006

Follicle-stimulating hormone receptor gene mutations are not evident in Greek women with premature ovarian failure and poor responders.

Loutradis D et al.

Gynecologic and Obstetric Investigation, 2006

Mutations in human gonadotropin and gonadotropin-receptor genes.

Huhtaniemi IT et al.

Endocrine, 2005

Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF).

Sundblad V et al.

Molecular and Cellular Endocrinology, 2004

A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.

Allen LA et al.

Human Reproduction (oxford, England), 2003

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."