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
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T et al.
Clinical Epigenetics, 2022
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
Cubellis MV et al.
Clinical Epigenetics, 2020
32928291 (PubMed )
Supplement: 13148_2020_925_MOESM8_ESM.xlsx › Foglio1_
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
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