Article

Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with Multi-Locus Imprinting Disturbances

2025-06-16

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> The expression of imprinted genes, which depends on their gamete of origin, is regulated by DNA sequences characterized by differential methylation between the maternal and paternal alleles (also known as germline differentially methylated regions or gDMRs). The most common molecular defect associated with Beckwith-Wiedemann syndrome (BWS), a condition linked to...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 22bb383f-0f57-5fae-9e37-2b4e65e2a8f3
DOI: 10.21203/rs.3.rs-6762380/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with Multi-Locus Imprinting DisturbancesDOI 10.21203/rs.3.rs-6762380/v1Read

Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progenySemantic proximity Read

Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.Semantic proximity Read

Investigation of Multilocus Imprinting Disturbance (MLID) in 101 Beckwith-Wiedemann Spectrum patientsSemantic proximity Read

Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.Semantic proximity Read

DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.Semantic proximity Read

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbancesSemantic proximity Read

Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.Semantic proximity Read

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.Semantic proximity Read

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.Semantic proximity Read

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technologySemantic proximity Read

Phenotypically concordant but epigenetically discordant monozygotic dichorionic diamniotic twins with Beckwith-Wiedemann syndrome.Semantic proximity Read

Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2.Semantic proximity Read