Enhancers in disease: molecular basis and emerging treatment strategies

A Claringbould, JB Zaugg - Trends in molecular medicine, 2021 - cell.com
Enhancers are genomic sequences that play a key role in regulating tissue-specific gene
expression levels. An increasing number of diseases are linked to impaired enhancer …

Origins of human disease: the chrono-epigenetic perspective

ES Oh, A Petronis - Nature Reviews Genetics, 2021 - nature.com
Epigenetics has enriched human disease studies by adding new interpretations to disease
features that cannot be explained by genetic and environmental factors. However …

Origins and immunopathogenesis of autoimmune central nervous system disorders

S Ramanathan, F Brilot, SR Irani, RC Dale - Nature Reviews Neurology, 2023 - nature.com
The field of autoimmune neurology is rapidly evolving, and recent discoveries have
advanced our understanding of disease aetiologies. In this article, we review the key …

Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses

J Rodríguez-Ubreva, A Arutyunyan, MJ Bonder… - Nature …, 2022 - nature.com
Common variable immunodeficiency (CVID), the most prevalent symptomatic primary
immunodeficiency, displays impaired terminal B-cell differentiation and defective antibody …

Genetic risk factors for ME/CFS identified using combinatorial analysis

S Das, K Taylor, J Kozubek, J Sardell… - Journal of Translational …, 2022 - Springer
Background Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a debilitating
chronic disease that lacks known pathogenesis, distinctive diagnostic criteria, and effective …

Immune signatures of prodromal multiple sclerosis in monozygotic twins

LA Gerdes, C Janoschka, M Eveslage… - Proceedings of the …, 2020 - National Acad Sciences
The tremendous heterogeneity of the human population presents a major obstacle in
understanding how autoimmune diseases like multiple sclerosis (MS) contribute to …

Whole-genome methylation analysis of testicular germ cells from cryptozoospermic men points to recurrent and functionally relevant DNA methylation changes

S Di Persio, E Leitão, M Wöste, T Tekath, JF Cremers… - Clinical …, 2021 - Springer
Background Several studies have reported an association between male infertility and
aberrant sperm DNA methylation patterns, in particular in imprinted genes. In a recent …

The value of twins for health and medical research: a third of a century of progress

JM Craig, L Calais-Ferreira, MP Umstad… - Twin Research and …, 2020 - cambridge.org
In 1984, Hrubec and Robinette published what was arguably the first review of the role of
twins in medical research. The authors acknowledged a growing distinction between two …

The mutagenic consequences of DNA methylation within and across generations

HE Hanson, AL Liebl - Epigenomes, 2022 - mdpi.com
DNA methylation is an epigenetic modification with wide-ranging consequences across the
life of an organism. This modification can be stable, persisting through development despite …

Omics approaches to understanding the efficacy and safety of disease-modifying treatments in multiple sclerosis

L Lorefice, M Pitzalis, F Murgia, G Fenu, L Atzori… - Frontiers in …, 2023 - frontiersin.org
From the perspective of precision medicine, the challenge for the future is to improve the
accuracy of diagnosis, prognosis, and prediction of therapeutic responses through the …