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

Rare missense variant inMSH4associated with primary gonadal failure in both 46, XX and 46, XY individuals

15 Dec 2020

Abstract excerpt

STUDY QUESTION: Can whole-exome sequencing (WES) reveal a shared pathogenic variant responsible for primary gonadal failure in both male and female patients from a consanguineous family? SUMMARY ANSWER: Patients with primary ovarian insufficiency (POI) and non-obstructive azoospermia (NOA) were homozygous for the rare missense variant p. S754L located in the highly conserved MSH4 MutS signature motif of the...

Read the complete abstract on PubMed

Topics

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

Share to Genetic factors in colorectal cancer
Share to Genomic variations and chromosomal abnormalities
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33448284
DOI: 10.1093/humrep/deaa362

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare missense variant inMSH4associated with primary gonadal failure in both 46, XX and 46, XY individualsPMID 33448284Read ↗

A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.Semantic proximity Read ↗

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

Mutations in MSH5 in primary ovarian insufficiencySemantic proximity Read ↗

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

Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia.Semantic proximity Read ↗

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

Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis.Semantic proximity Read ↗

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

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

Novel and recurrent genetic variants associated with male and female infertilitySemantic proximity Read ↗

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

In silico analysis of a novel pathogenic variant c.7G > A in C14orf39 gene identified by WES in a Pakistani family with azoospermia.Semantic proximity Read ↗

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