Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance
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DOI: 10.1186/s13148-020-00925-2
Abstract: Background PADI6 is a component of the subcortical maternal complex, a group of proteins that is abundantly expressed in the oocyte cytoplasm, but is required for the correct development of early embryo. Maternal-effect variants of… read more here.
Keywords: maternal effect; locus imprinting; multi locus; function ... See more keywords
Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny
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DOI: 10.1186/s13148-022-01262-2
Abstract: Beckwith–Wiedemann syndrome (BWS, OMIM # 130650) is an imprinting disorder, associated with overgrowth and increased risk of embryonal tumors. Patients carrying hypomethylation in the KCNQ1OT1 :TSS DMR (11p15.5) show MLID (Multilocus Imprinting Disturbance) upon epimutations… read more here.
Keywords: subcortical maternal; imprinting disturbance; maternal complex; beckwith wiedemann ... See more keywords