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

Establishment of pluripotent stem cell line induced by PATL2 heterozygous mutation in patients with oocyte maturation defect-4.

Stem cell research - 1 May 2022

Xue Nairui, Wang Yibing, Xu Xuan, Jiang Xiaohua, Li Caihua, Wang Jianye, Zhou Ping, Cao Yunxia, Wei Zhaolian

Abstract excerpt

Oocyte maturation defect-4 (OOMD4) is an autosomal recessive disease characterized by oocyte maturation arrest. On chromosome 15q21, the PATL2 gene is mutated, resulting in OOMD4 in either a homozygous or compound heterozygous form. Herein, the peripheral blood mononuclear cells (PBMCs) were obtained from a female patient who was heterozygous for OOMD4 due to a PALT2 gene mutation. Then we obtained the induced...

Read the complete abstract on PubMed

Topics

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

Share to Heterozygote
Share to Induced Pluripotent Stem Cells

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Leukocytes, Mononuclear

Share to Mutation

Share to Oocytes

Source

Identifiers

PMID: 35397397
DOI: 10.1016/j.scr.2022.102776

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Establishment of pluripotent stem cell line induced by PATL2 heterozygous mutation in patients with oocyte maturation defect-4.PMID 35397397Read ↗

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

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

Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrestSemantic proximity Read ↗

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

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

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

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

Establishment of the induced pluripotent stem cell line PLAFMCi006-A from peripheral blood mononuclear cells of polycystic kidney disease patients with PKD2 gene mutation.Semantic proximity Read ↗

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

The Recurrent Mutation in PATL2 Inhibits Its Degradation Thus Causing Female Infertility Characterized by Oocyte Maturation Defect Through Regulation of the Mos-MAPK PathwaySemantic proximity Read ↗

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

PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and miceSemantic proximity Read ↗

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