Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Fertility and sterility - 1 Dec 2017

Liu Hongli, Xu Xiaofei, Han Ting, Yan Lei, Cheng Lei, Qin Yingying, Liu Wen, Zhao Shidou, Chen Zi-Jiang

Abstract excerpt

OBJECTIVE: To identify the potential FSHR mutation in a Chinese woman with primary ovarian insufficiency (POI). DESIGN: Genetic and functional studies. SETTING: University-based reproductive medicine center. PATIENT(S): A POI patient, her family members, and another 192 control women with regular menstruation. INTERVENTION(S): Ovarian biopsy was performed in the patient. Sanger sequencing was carried out for the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biopsy
Share to Codon, Nonsense
Share to Cyclic AMP

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HEK293 Cells

Share to Ovarian Follicle

Share to Primary Ovarian Insufficiency

Share to Receptors, FSH

Source

Identifiers

PMID: 29157895
DOI: 10.1016/j.fertnstert.2017.09.010

Genes

FSHR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel homozygous mutation in the FSHR gene is causative for primary ovarian insufficiency.PMID 29157895Read ↗

A Novel Compound Heterozygous Mutation of FSHR Causes Primary Ovarian InsufficiencySemantic proximity Read ↗

Identification and characterization of novel compound heterozygous variants in FSHR causing primary ovarian insufficiency with resistant ovary syndrome.Semantic proximity Read ↗

[Study of two Chinese families affected with resistant ovarian syndrome resulted from novel mutations of FSHR gene].Semantic proximity Read ↗

Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian Insufficiency.Semantic proximity Read ↗

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

The impact of follicle-stimulating hormone receptor mutations on female ovarian function and pregnancy outcomes: a systematic review†.Semantic proximity Read ↗

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian FamilySemantic proximity Read ↗

Genetic Etiologic Analysis in 74 Chinese Han Women with Idiopathic Premature Ovarian Insufficiency by Combined Molecular Genetic TestingSemantic proximity Read ↗

A Novel Mutation in the FSH Receptor Inhibiting Signal Transduction and Causing Primary Ovarian FailureSemantic proximity Read ↗

Novel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian FailureSemantic proximity Read ↗

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian InsufficiencySemantic proximity Read ↗

Absence of Mutations in the Coding Regions of Follicle-Stimulating Hormone Receptor Gene in Singapore Chinese Women with Premature Ovarian Failure and Polycystic Ovary SyndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.