The dynamic broad epigenetic (H3K4me3, H3K27ac) domain as a mark of essential genes

TH Beacon, GP Delcuve, C López, G Nardocci… - Clinical …, 2021 - Springer
Transcriptionally active chromatin is marked by tri-methylation of histone H3 at lysine 4
(H3K4me3) located after first exons and around transcription start sites. This epigenetic mark …

The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective

B Mossink, M Negwer, D Schubert… - Cellular and Molecular …, 2021 - Springer
Neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism
spectrum disorders (ASD), are a large group of disorders in which early insults during brain …

Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro

B Mossink, AHA Verboven, EJH van Hugte… - Stem cell reports, 2021 - cell.com
Micro-electrode arrays (MEAs) are increasingly used to characterize neuronal network
activity of human induced pluripotent stem cell (hiPSC)-derived neurons. Despite their gain …

Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects

JA Fahrner, HT Bjornsson - Human Molecular Genetics, 2019 - academic.oup.com
The epigenetic machinery in conjunction with the transcriptional machinery is responsible
for maintaining genome-wide chromatin states and dynamically regulating gene expression …

Delineation of a human Mendelian disorder of the DNA demethylation machinery: TET3 deficiency

DB Beck, A Petracovici, C He, HW Moore… - The American Journal of …, 2020 - cell.com
Germline pathogenic variants in chromatin-modifying enzymes are a common cause of
pediatric developmental disorders. These enzymes catalyze reactions that regulate …

Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?

JR Harris, CW Gao, JF Britton, CD Applegate… - Human genetics, 2024 - Springer
Abstract The multidisciplinary Epigenetics and Chromatin Clinic at Johns Hopkins provides
comprehensive medical care for individuals with rare disorders that involve disrupted …

One-carbon epigenetics and redox biology of neurodegeneration

F Coppedè - Free Radical Biology and Medicine, 2021 - Elsevier
One-carbon metabolism provides the methyl groups for both DNA and histone tail
methylation reactions, two of the main epigenetic processes that tightly regulate the …

The phenomenal epigenome in neurodevelopmental disorders

U Ciptasari, H van Bokhoven - Human Molecular Genetics, 2020 - academic.oup.com
Disruption of chromatin structure due to epimutations is a leading genetic etiology of
neurodevelopmental disorders, collectively known as chromatinopathies. We show that …

DORGE: Discovery of Oncogenes and tumoR suppressor genes using Genetic and Epigenetic features

J Lyu, JJ Li, J Su, F Peng, YE Chen, X Ge, W Li - Science advances, 2020 - science.org
Data-driven discovery of cancer driver genes, including tumor suppressor genes (TSGs) and
oncogenes (OGs), is imperative for cancer prevention, diagnosis, and treatment. Although …

Fine-mapping causal tissues and genes at disease-associated loci

BJ Strober, MJ Zhang, T Amariuta, J Rossen… - Nature Genetics, 2025 - nature.com
Complex diseases often have distinct mechanisms spanning multiple tissues. We propose
tissue–gene fine-mapping (TGFM), which infers the posterior inclusion probability (PIP) for …