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Article

Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development.

Journal of assisted reproduction and genetics - 1 Jun 2021

Liu Juan, Tan Zongjian, He Jun, Jin Tingting, Han Yuanyuan, Hu Li, Huang Shengwen

Abstract excerpt

PURPOSE: This study aims to identify genetic causes of female infertility associated with recurrent failure of assisted reproductive technology (ART) characterized by embryonic developmental arrest. METHODS: We recruited infertile patients from two consanguineous families from the Reproductive Medicine Center of Guizhou Provincial People's Hospital. Peripheral blood was collected for genomic DNA extraction. Two...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34036456
DOI: 10.1007/s10815-021-02194-1
PMCID: PMC8266952

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Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development.PMID 34036456Read ↗

A novel variant in TLE6 is associated with embryonic developmental arrest (EDA) in familial female infertility.Semantic proximity Read ↗

A novel homozygous mutation in the PADI6 gene causes early embryo arrest.Semantic proximity Read ↗

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Novel variants in PADI6 genes cause female infertility due to early embryo arrest.Semantic proximity Read ↗

Identification of Novel Biallelic TLE6 Variants in Female Infertility With Preimplantation Embryonic LethalitySemantic proximity Read ↗

Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic ArrestSemantic proximity Read ↗

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest.Semantic proximity Read ↗

Novel Homozygous PADI6 Variants in Infertile Females with Early Embryonic ArrestSemantic proximity Read ↗

New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage.Semantic proximity Read ↗

Novel Biallelic TLE6 Variants Induce Preimplantation Embryonic Lethality That Cannot be Rescued by IVF or ICSISemantic 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 ↗

A complex heterozygous mutation in PADI6 causes early embryo arrest: A case reportSemantic proximity Read ↗

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