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Article

Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.

American journal of human genetics - 5 Oct 2017

Maddirevula Sateesh, Coskun Serdar, Alhassan Saad, Elnour Atif, Alsaif Hessa S, Ibrahim Niema, Abdulwahab Firdous, Arold Stefan T, Alkuraya Fowzan S

Abstract excerpt

Infertility is a relatively common disorder of the reproductive system and remains unexplained in many cases. In vitro fertilization techniques have uncovered previously unrecognized infertility phenotypes, including oocyte maturation arrest, the molecular etiology of which remains largely unknown. We report two families affected by female-limited infertility caused by oocyte maturation failure. Positional...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28965844
DOI: 10.1016/j.ajhg.2017.08.009
PMCID: PMC5630161

Genes

PATL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.PMID 28965844Read ↗

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

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

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

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

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

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

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

PATL2 regulates mRNA homeostasis in oocytes by interacting with EIF4E and CPEB1Semantic 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 ↗

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 ↗

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

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