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

Biallelic variants in MAD2L1BP (p31comet) cause female infertility characterized by oocyte maturation arrest

19 Jun 2023

Abstract excerpt

Human oocyte maturation arrest represents one of the severe conditions for female patients with primary infertility. However, the genetic factors underlying this human disease remain largely unknown. The spindle assembly checkpoint (SAC) is an intricate surveillance mechanism that ensures accurate segregation of chromosomes throughout cell cycles. Once the kinetochores of chromosomes are correctly attached to...

Read the complete abstract on PubMed

Topics

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

Share to Prenatal Screening and Diagnostics
Share to Renal and related cancers
Share to Reproductive Biology and Fertility

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37334967
DOI: 10.7554/elife.85649

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic variants in MAD2L1BP (p31comet) cause female infertility characterized by oocyte maturation arrestPMID 37334967Read ↗

Biallelic Variants in <i>MAD2L1BP</i> ( <i> p31 <sup>comet</sup> </i> ) Cause Female Infertility Characterized by Oocyte Maturation ArrestSemantic proximity Read ↗

Biallelic mutations in ANAPC13 cause female infertility characterized by oocyte maturation arrest both in humans and mice.Semantic proximity Read ↗

Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest.Semantic proximity Read ↗

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.Semantic proximity Read ↗

Predicting Infertility: How Genetic Variants in Oocyte Spindle Genes Affect Egg Quality.Semantic proximity Read ↗

Genetic Mutations and Non-Genomic Dysregulation in Human Preimplantation Embryo Arrest.Semantic proximity Read ↗

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

Bi-allelic variants in <i>TBC1D8</i> result in non-obstructive azoospermia in both humans and miceSemantic proximity Read ↗

Meiosis interrupted: the genetics of female infertility via meiotic failureSemantic proximity Read ↗

Pathogenic variants in DLGAP5 cause female infertility characterized by oocyte maturation arrest and embryonic arrestSemantic proximity Read ↗

Novel PATL2 variants cause female infertility with oocyte maturation defect.Semantic proximity Read ↗

DLGAP5 mutations Disrupt Normal Chromosome Segregation and Spindle Formation of human Oocyte Meiosis and Lead to Female InfertilitySemantic proximity Read ↗

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