Identification of mammalian transcription factors that bind to inaccessible chromatin

RT Pop, A Pisante, D Nagy, PCN Martin… - Nucleic Acids …, 2023 - academic.oup.com
Transcription factors (TFs) are proteins that affect gene expression by binding to regulatory
regions of DNA in a sequence specific manner. The binding of TFs to DNA is controlled by …

On the problem of confounders in modeling gene expression

F Schmidt, MH Schulz - Bioinformatics, 2019 - academic.oup.com
Abstract Motivation Modeling of Transcription Factor (TF) binding from both ChIP-seq and
chromatin accessibility data has become prevalent in computational biology. Several …

The Thioesterase ACOT1 as a Regulator of Lipid Metabolism in Type 2 Diabetes Detected in a Multi-Omics Study of Human Liver

M Cavalli, K Diamanti, Y Dang, P Xing… - OMICS: A Journal of …, 2021 - liebertpub.com
Type 2 diabetes (T2D) is characterized by pathophysiological alterations in lipid metabolism.
One strategy to understand the molecular mechanisms behind these abnormalities is to …

Multifaceted regulation of hepatic lipid metabolism by YY1

G Pan, K Diamanti, M Cavalli… - Life Science …, 2021 - life-science-alliance.org
Recent studies suggested that dysregulated YY1 plays a pivotal role in many liver diseases.
To obtain a detailed view of genes and pathways regulated by YY1 in the liver, we carried …

The epigenetic machinery in the life cycle and pharmacoepigenetics

R Cacabelos, I Tellado, P Cacabelos - Pharmacoepigenetics, 2019 - Elsevier
Epigenetics is a discipline that studies potentially reversible heritable changes in gene
expression with no structural modifications in the DNA sequence. The epigenetic machinery …

Allele specific chromatin signals, 3D interactions, and motif predictions for immune and B cell related diseases

M Cavalli, N Baltzer, HM Umer, J Grau, I Lemnian… - Scientific reports, 2019 - nature.com
Abstract Several Genome Wide Association Studies (GWAS) have reported variants
associated to immune diseases. However, the identified variants are rarely the drivers of the …

HiCapTools: a software suite for probe design and proximity detection for targeted chromosome conformation capture applications

A Anil, R Spalinskas, Ö Åkerborg, P Sahlen - Bioinformatics, 2018 - academic.oup.com
Folding of eukaryotic genomes within nuclear space enables physical and functional
contacts between regions that are otherwise kilobases away in sequence space. Targeted …

Probing instructions for expression regulation in gene nucleotide compositions

C Bessière, M Taha, F Petitprez, J Vandel… - PLoS computational …, 2018 - journals.plos.org
Gene expression is orchestrated by distinct regulatory regions to ensure a wide variety of
cell types and functions. A challenge is to identify which regulatory regions are active, what …

Functional annotation of noncoding mutations in cancer

HM Umer, K Smolinska, J Komorowski… - Life science …, 2021 - life-science-alliance.org
In a cancer genome, the noncoding sequence contains the vast majority of somatic
mutations. While very few are expected to be cancer drivers, those affecting regulatory …

Predictive Healthcare: Cervical Cancer Screening Risk Stratification and Genetic Disease Markers

N Baltzer - 2019 - diva-portal.org
Genetic Disease Markers. Digital Comprehensive Summaries of Uppsala Dissertations from
the Faculty of Science and Technology 1862. 62 pp. Uppsala: Acta Universitatis Upsaliensis …