Associated Papers
Novel mutations in transducin-like enhancer of split 6 cause infertility in women with embryonic arrest.
Tan J et al.
Journal of Assisted Reproduction and Genetics, 2025
Cryo-EM structure of the human subcortical maternal complex and the associated discovery of infertility-associated variants.
Chi P et al.
Nature Structural & Molecular Biology, 2024
Structural basis of the subcortical maternal complex and its implications in reproductive disorders.
Chi P et al.
Nature Structural & Molecular Biology, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Exonic genetic variants associated with unexpected fertilization failure and zygotic arrest after ICSI: a systematic review.
Torra-Massana M et al.
Zygote (cambridge, England), 2023
Genetic variants underlying developmental arrests in human preimplantation embryos.
Ozturk S
Molecular Human Reproduction, 2023
A novel variant in TLE6 is associated with embryonic developmental arrest (EDA) in familial female infertility.
Akbari M et al.
Scientific Reports, 2022
Gene mutations impede oocyte maturation, fertilization, and early embryonic development.
Fei CF et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2022
Gene mutations associated with fertilization failure after in vitro fertilization/intracytoplasmic sperm injection.
Xue Y et al.
Frontiers in Endocrinology, 2022
DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.
Anvar Z et al.
Genes, 2021
A novel TLE6 mutation, c.541+1G>A, identified using whole-exome sequencing in a Chinese family with female infertility.
Mao B et al.
Molecular Genetics & Genomic Medicine, 2021
Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development.
Liu J et al.
Journal of Assisted Reproduction and Genetics, 2021
Identification of Novel Biallelic TLE6 Variants in Female Infertility With Preimplantation Embryonic Lethality.
Zhang M et al.
Frontiers in Genetics, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations.
Lin J et al.
Journal of Assisted Reproduction and Genetics, 2020
Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest.
Wang X et al.
Reproductive Biomedicine Online, 2018
TLE6 mutation causes the earliest known human embryonic lethality.
Alazami AM et al.
Genome Biology, 2015