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 homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.

Human molecular genetics - 15 Aug 2017

Carlosama Carolina, Elzaiat Maëva, Patiño Liliana C, Mateus Heidi E, Veitia Reiner A, Laissue Paul

Abstract excerpt

Premature ovarian insufficiency (POI) is a frequent pathology that affects women under 40 years of age, characterized by an early cessation of menses and high FSH levels. Despite recent progresses in molecular diagnosis, the etiology of POI remains idiopathic in most cases. Whole-exome sequencing of members of a Colombian family affected by POI allowed us to identify a novel homozygous donor splice-site mutation...

Read the complete abstract on PubMed

Topics

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

Share to Cell Cycle Proteins
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Homozygote

Share to Menopause, Premature

Share to Primary Ovarian Insufficiency

Share to RNA Splice Sites

Source

Identifiers

PMID: 28541421
DOI: 10.1093/hmg/ddx199

Genes

MSH4

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 homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.PMID 28541421Read ↗

Rare missense variant inMSH4associated with primary gonadal failure in both 46, XX and 46, XY individualsSemantic proximity Read ↗

Mutation in MSH5 Causes Primary Ovarian Insufficiency and Successful Therapeutic Intervention by In Vitro Fertilisation.Semantic proximity Read ↗

Mutations in MSH5 in primary ovarian insufficiencySemantic proximity Read ↗

Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserveSemantic proximity Read ↗

An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.Semantic proximity Read ↗

Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing EraSemantic proximity Read ↗

Variants in Homologous Recombination Genes EXO1 and RAD51 Related with Premature Ovarian InsufficiencySemantic proximity Read ↗

Genetic and functional analysis reveals novel mutations in meiotic genes underlying non-obstructive azoospermia.Semantic proximity Read ↗

Genetic variants in diminished ovarian reserve and premature ovarian insufficiency: implications for assisted reproductive outcomes.Semantic proximity Read ↗

Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexesSemantic proximity Read ↗

Genetic screening in patients with ovarian dysfunction.Semantic proximity Read ↗

Biallelic mutations in <i>M1AP</i> are a frequent cause of meiotic arrest leading to male infertilitySemantic proximity Read ↗

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