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 loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia.

Journal of human genetics - 1 Jul 2021

Nawaz Shoaib, Ullah Muhammad Imran, Hamid Beenish Samreen, Nargis Jalwa, Nawaz Mehboob, Hussain Shabir, Ahmad Wasim

Abstract excerpt

Male infertility pertains to male's inability to cause pregnancy in a fertile female. It accounts for 40-50% of infertility in human. In the study, presented here, a large consanguineous family of Pakistani origin segregating male infertility in autosomal recessive manner was investigated. Exome sequencing revealed a homozygous frameshift variant [NM_001040108: c.3632delA, p.(Asn1211Metfs*49)] in DNA mismatch...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to DNA Mismatch Repair

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Infertility, Male

Share to Loss of Function Mutation

Share to MutL Proteins

Share to Oligospermia

Share to Pakistan

Source

Identifiers

PMID: 33517345
DOI: 10.1038/s10038-021-00907-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia.PMID 33517345Read ↗

Single-nucleotide polymorphism rs 175080 in the MLH3 gene and its relation to male infertility.Semantic proximity Read ↗

KH domain containing 3 like (KHDC3L) frame-shift mutation causes both recurrent pregnancy loss and hydatidiform mole.Semantic proximity Read ↗

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

Genome sequencing of Pakistani families with male infertility identifies deleterious genotypes in SPAG6, CCDC9, TKTL1, TUBA3C, and M1AP.Semantic proximity Read ↗

A homozygous FANCM frameshift pathogenic variant causes male infertility.Semantic proximity Read ↗

<i>MLH1/3</i> variants causing aneuploidy, pregnancy loss, and premature reproductive agingSemantic proximity Read ↗

Identification of novel homozygous missense and deletion mutations manifesting oligospermia infertility in Kashmiri population.Semantic proximity Read ↗

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

Mutations in MSH5 in primary ovarian insufficiencySemantic proximity Read ↗

The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia.Semantic proximity Read ↗

Maternal MLH3 dysfunction drives unexplained recurrent pregnancy loss via impaired oocyte maturation and defective decidualization.Semantic proximity Read ↗

Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging.Semantic proximity Read ↗

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