Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.F591S
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FSHR

NM_000145.4:p.F591S

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

Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.

Ulloa-Aguirre A et al.

Frontiers in Endocrinology, 2022

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

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

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

Liu H et al.

Molecular and Cellular Endocrinology, 2019

Pharmacoperones for Misfolded Gonadotropin Receptors.

Newton CL et al.

Handbook of Experimental Pharmacology, 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

Pharmacogenetics of follicle-stimulating hormone action.

Laan M et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2012

Molecular pathogenesis of granulosa cell tumors of the ovary.

Jamieson S et al.

Endocrine Reviews, 2012

No activating mutations of FSH receptor in four children with ovarian juvenile granulosa cell tumors and the association of these tumors with central precocious puberty.

Bas F et al.

Journal of Pediatric and Adolescent Gynecology, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

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

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

Yamoto M

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

Premature thelarche and granulosa cell tumors: a search for FSH receptor and G5alpha activating mutations.

Hannon TS et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2002

Analysis of mutations in genes of the follicle-stimulating hormone receptor signaling pathway in ovarian granulosa cell tumors.

Ligtenberg MJ et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

Absence of mutations in the FSH receptor in ovarian granulosa cell tumors.

Kotlar T et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors.

Fragoso MC et al.

The Journal of Clinical Endocrinology and Metabolism, 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

No evidence of a role for mutations or polymorphisms of the follicle-stimulating hormone receptor in ovarian granulosa cell tumors.

Fuller PJ et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

A mutation in the follicle-stimulating hormone receptor occurs frequently in human ovarian sex cord tumors.

Kotlar TJ et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

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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."