Associated Papers
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
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T et al.
Clinical Epigenetics, 2022
DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.
Anvar Z et al.
Genes, 2021
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
Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest.
Mu J et al.
Journal of Medical Genetics, 2019
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.
Docherty LE et al.
Nature Communications, 2015
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