Dnmt3a-mutated clonal hematopoiesis promotes osteoporosis

PG Kim, A Niroula, V Shkolnik, M McConkey… - Journal of Experimental …, 2021 - rupress.org
Osteoporosis is caused by an imbalance of osteoclasts and osteoblasts, occurring in close
proximity to hematopoietic cells in the bone marrow. Recurrent somatic mutations that lead …

A comparative analysis of planarian genomes reveals regulatory conservation in the face of rapid structural divergence

M Ivanković, JN Brand, L Pandolfini, T Brown… - Nature …, 2024 - nature.com
The planarian Schmidtea mediterranea is being studied as a model species for
regeneration, but the assembly of planarian genomes remains challenging. Here, we report …

[HTML][HTML] HiCAR is a robust and sensitive method to analyze open-chromatin-associated genome organization

X Wei, Y Xiang, DT Peters, C Marius, T Sun, R Shan… - Molecular cell, 2022 - cell.com
The long-range interactions of cis-regulatory elements (cREs) play a central role in gene
regulation. cREs can be characterized as accessible chromatin sequences. However, it …

[HTML][HTML] HydRA: Deep-learning models for predicting RNA-binding capacity from protein interaction association context and protein sequence

W Jin, KW Brannan, K Kapeli, SS Park, HQ Tan… - Molecular Cell, 2023 - cell.com
RNA-binding proteins (RBPs) control RNA metabolism to orchestrate gene expression and,
when dysfunctional, underlie human diseases. Proteome-wide discovery efforts predict …

Exhaustive identification of genome-wide binding events of transcriptional regulators

A Nordin, P Pagella, G Zambanini… - Nucleic Acids …, 2024 - academic.oup.com
Genome-wide binding assays aspire to map the complete binding pattern of gene
regulators. Common practice relies on replication—duplicates or triplicates—and high …

Quality-controlled R-loop meta-analysis reveals the characteristics of R-loop consensus regions

HE Miller, D Montemayor, J Abdul, A Vines… - Nucleic acids …, 2022 - academic.oup.com
R-loops are three-stranded nucleic acid structures formed from the hybridization of RNA and
DNA. While the pathological consequences of R-loops have been well-studied to date, the …

Evolutionary rewiring of regulatory networks contributes to phenotypic differences between human and mouse orthologous genes

D Ha, D Kim, I Kim, Y Oh, JH Kong… - Nucleic Acids …, 2022 - academic.oup.com
Mouse models have been engineered to reveal the biological mechanisms of human
diseases based on an assumption. The assumption is that orthologous genes underlie …

Improved quality metrics for association and reproducibility in chromatin accessibility data using mutual information

C Roth, V Venu, V Job, N Lubbers, KY Sanbonmatsu… - BMC …, 2023 - Springer
Background Correlation metrics are widely utilized in genomics analysis and often
implemented with little regard to assumptions of normality, homoscedasticity, and …

Impaired ATF3 signaling involves SNAP25 in SOD1 mutant ALS patients

V Yazar, JK Kühlwein, A Knehr, V Grozdanov… - Scientific reports, 2023 - nature.com
Epigenetic remodeling is emerging as a critical process for several neurodegenerative
diseases, including amyotrophic lateral sclerosis (ALS). Genetics alone fails to explain the …

Genetic variation is a key determinant of chromatin accessibility and drives differences in the regulatory landscape of C57BL/6J and 129S1/SvImJ mice

J Mononen, M Taipale, M Malinen… - Nucleic Acids …, 2024 - academic.oup.com
Most common genetic variants associated with disease are located in non-coding regions of
the genome. One mechanism by which they function is through altering transcription factor …