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

Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest

10 Apr 2018

Abstract excerpt

STUDY QUESTION: Do PATL2 mutations account for female infertility with oocyte germinal vesicle (GV) arrest? SUMMARY ANSWER: Four of nine independent families with oocyte GV arrest were identified with biallelic PATL2 mutations, suggesting that these mutations may be responsible for oocyte maturation arrest in primary infertile women. WHAT IS KNOWN ALREADY: Recently, two independent studies have demonstrated that...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Syndromes and Imprinting
Share to Reproductive Biology and Fertility
Share to RNA Research and Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 29697801
DOI: 10.1093/humrep/dey100

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrestPMID 29697801Read ↗

Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest.Semantic proximity Read ↗

Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure.Semantic proximity Read ↗

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

Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.Semantic proximity Read ↗

[Oocyte maturation arrest due to compound heterozygous variants of the PATL2 gene in a case].Semantic proximity Read ↗

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

PATL2 mutations affect human oocyte maternal mRNA homeostasis and protein interactions in cell cycle regulationSemantic proximity Read ↗

Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest.Semantic proximity Read ↗

Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.Semantic proximity Read ↗

Novel mutations in TRIP13 lead to female infertility with oocyte maturation arrest.Semantic proximity Read ↗

A homozygous variant in TBPL2 was identified in women with oocyte maturation defects and infertilitySemantic proximity Read ↗

Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure.Semantic proximity Read ↗

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