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

Pathogenic variants in DLGAP5 cause female infertility characterized by oocyte maturation arrest and embryonic arrest

27 Jun 2025

Abstract excerpt

STUDY QUESTION: Can new genetic factors responsible for oocyte defects be identified in infertile women, especially for those with spindle assembly defects? SUMMARY ANSWER: We identified homozygous and compound heterozygous variants of DLGAP5 in three infertile individuals from two independent families. WHAT IS KNOWN ALREADY: Some genes have been found to be responsible for female infertility with oocyte...

Read the complete abstract on PubMed

Topics

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

Share to Microtubule and mitosis dynamics
Share to Nuclear Structure and Function
Share to Reproductive Biology and Fertility

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40639803
DOI: 10.1093/humrep/deaf139

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

Pathogenic variants in DLGAP5 cause female infertility characterized by oocyte maturation arrest and embryonic arrestPMID 40639803Read ↗

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

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

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

Gene Spectrum and Clinical Traits of Nine Patients With Oocyte Maturation ArrestSemantic proximity Read ↗

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

Unraveling the mysteries of early embryonic arrest: genetic factors and molecular mechanisms.Semantic proximity Read ↗

Gene mutations impede oocyte maturation, fertilization, and early embryonic development.Semantic proximity Read ↗

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

Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.Semantic proximity Read ↗

Genetics of Oocyte Maturation Defects and Early Embryo Development ArrestSemantic proximity Read ↗

Lessons learned from the exome sequencing of nine cases of infertility and the way forward.Semantic proximity Read ↗

Genetic Abnormalities of Oocyte Maturation: Mechanisms and Clinical Implications.Semantic proximity Read ↗

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