Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.N191I
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FSHR

NM_000145.4:p.N191I

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

A FSHR missense variant associated with polycystic ovary syndrome in an Iranian family with multiple affected sisters.

Behrafigh M et al.

Molecular Biology Reports, 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

Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study.

Mahey R et al.

Journal of Human Genetics, 2024

The Ala307Thr polymorphism of the follicle-stimulating hormone receptor (FSHR) gene is associated with the dose of recombinant FSH received during IVF/ICSI treatment.

Dieamant F et al.

Jbra Assisted Reproduction, 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

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

Hanyroup S et al.

Endocrinology, 2021

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

Benammar A et al.

Journal of Assisted Reproduction and Genetics, 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

Pharmacoperones for Misfolded Gonadotropin Receptors.

Newton CL et al.

Handbook of Experimental Pharmacology, 2018

Structure-Function Relationships of the Follicle-Stimulating Hormone Receptor.

Ulloa-Aguirre A et al.

Frontiers in Endocrinology, 2018

Single nucleotide polymorphisms in premature ovarian failure-associated genes in a Chinese Hui population.

Ma L et al.

Molecular Medicine Reports, 2015

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

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

Mutations in G protein-coupled receptors that impact receptor trafficking and reproductive function.

Ulloa-Aguirre A et al.

Molecular and Cellular Endocrinology, 2014

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

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

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

Tao YX

Pharmacology & Therapeutics, 2006

Structural biology of glycoprotein hormones and their receptors.

Fan QR et al.

Endocrine, 2005

Structure of human follicle-stimulating hormone in complex with its receptor.

Fan QR et al.

Nature, 2005

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

Sundblad V et al.

Molecular and Cellular Endocrinology, 2004

Molecular abnormalities of FSH and LH action.

McDonough PG

Annals of the New York Academy of Sciences, 2003

Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism.

Gromoll J et al.

European Journal of Endocrinology, 2002

A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure.

Doherty E et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

[Mutations in the follicle-stimulating hormone receptor genes in patients with gonadal dysfunction].

Yamoto M

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

Inactivating FSH receptor mutations and gonadal dysfunction.

Tapanainen JS et al.

Molecular and Cellular Endocrinology, 1998

Mutations of follicle-stimulating hormone and its receptor: effects on gonadal function.

Huhtaniemi IT et al.

European Journal of Endocrinology, 1998

Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.

Chan WY

Molecular Genetics and Metabolism, 1998

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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."