Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Epigenetics"
DOI: 10.1186/s13148-019-0658-5
Abstract: BackgroundADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, which is involved in chromatin regulation. We hypothesized that the disruption… read more here.
Keywords: methylation episignatures; dna; specific dna; adnp syndrome ... See more keywords
Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders.
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DOI: 10.2217/epi-2021-0521
Abstract: Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (DYT-KMT2B), the authors undertook genome-wide methylation profiling of ∼2 M CpGs using a next-generation sequencing-based assay and compared the findings with those in controls… read more here.
Keywords: methylation; dyt kmt2b; kmt2d related; methylation episignatures ... See more keywords
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
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DOI: 10.2217/epi-2023-0079
Abstract: Accurate diagnosis for patients living with neurodevelopmental disorders is often met with numerous challenges, related to the ambiguity of findings and lack of specificity in genetic variants leading to pathology. Genome-wide DNA methylation analysis has… read more here.
Keywords: neurodevelopmental disorders; episignatures sensitive; dna methylation; methylation episignatures ... See more keywords