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PATL2 mutations affect human oocyte maternal mRNA homeostasis and protein interactions in cell cycle regulation

31 Dec 2024

Abstract excerpt

Abstract Background Oocyte maturation defect (OMD) and early embryonic arrest result in female infertility. Previous studies have linked biallelic mutations in the PATL2 gene to OMD, yet the underlying mechanism remains largely unknown. Results This study uncovers three novel mutations (c.1201G > T, c.1284delA and c.1613 + 2_1613 + 3insGT) and three reported mutations (c.1204 C > T, c.1271T > C, c.223 −...

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PMID: 39741299
DOI: 10.1186/s13578-024-01341-2

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PATL2 mutations affect human oocyte maternal mRNA homeostasis and protein interactions in cell cycle regulationPMID 39741299Read ↗

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

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

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

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

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 ↗

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

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 ↗

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

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