Associated Papers
Genetic landscape of human oocyte/embryo defects.
Chen B et al.
Cell Genomics, 2026
41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2
Advances in monogenic female infertility.
Gu H et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
The maternal protein NLRP5 stabilizes UHRF1 in the cytoplasm: implication for the pathogenesis of multilocus imprinting disturbance.
Unoki M et al.
Human Molecular Genetics, 2024
38868925 (PubMed )
Supplement: sup_info_hmg_unoki_060424_ddae096.pdf
Structural basis of the subcortical maternal complex and its implications in reproductive disorders.
Chi P et al.
Nature Structural & Molecular Biology, 2024
38177687 (PubMed )
Supplement: 41594_2023_1153_MOESM3_ESM.xlsx › Table_S1
Genetic variants underlying developmental arrests in human preimplantation embryos.
Ozturk S
Molecular Human Reproduction, 2023
Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.
Huang L et al.
Journal of Assisted Reproduction and Genetics, 2022
DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.
Anvar Z et al.
Genes, 2021
A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family.
Xu Y et al.
Clinical Genetics, 2020
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.
Sparago A et al.
Clinical Epigenetics, 2019
Select a paper to view details