Metabolomics for investigating physiological and pathophysiological processes

DS Wishart - Physiological reviews, 2019 - journals.physiology.org
Metabolomics uses advanced analytical chemistry techniques to enable the high-throughput
characterization of metabolites from cells, organs, tissues, or biofluids. The rapid growth in …

Fragile sites in cancer: more than meets the eye

TW Glover, TE Wilson, MF Arlt - Nature Reviews Cancer, 2017 - nature.com
Ever since initial suggestions that instability at common fragile sites (CFSs) could be
responsible for chromosome rearrangements in cancers, CFSs and associated genes have …

Human genetic diversity alters off-target outcomes of therapeutic gene editing

S Cancellieri, J Zeng, LY Lin, M Tognon, MA Nguyen… - Nature …, 2023 - nature.com
CRISPR gene editing holds great promise to modify DNA sequences in somatic cells to treat
disease. However, standard computational and biochemical methods to predict off-target …

G-quadruplex structures mark human regulatory chromatin

R Hänsel-Hertsch, D Beraldi, SV Lensing, G Marsico… - Nature …, 2016 - nature.com
Abstract G-quadruplex (G4) structural motifs have been linked to transcription 1, 2,
replication 3 and genome instability 4, 5 and are implicated in cancer and other diseases 6 …

The functional impact of alternative splicing in cancer

H Climente-González, E Porta-Pardo, A Godzik… - Cell reports, 2017 - cell.com
Alternative splicing changes are frequently observed in cancer and are starting to be
recognized as important signatures for tumor progression and therapy. However, their …

[HTML][HTML] N6-methyladenine DNA modification in glioblastoma

Q **e, TP Wu, RC Gimple, Z Li, BC Prager, Q Wu, Y Yu… - Cell, 2018 - cell.com
Genetic drivers of cancer can be dysregulated through epigenetic modifications of DNA.
Although the critical role of DNA 5-methylcytosine (5mC) in the regulation of transcription is …

NPInter v4. 0: an integrated database of ncRNA interactions

X Teng, X Chen, H Xue, Y Tang, P Zhang… - Nucleic acids …, 2020 - academic.oup.com
Noncoding RNAs (ncRNAs) play crucial regulatory roles in a variety of biological circuits. To
document regulatory interactions between ncRNAs and biomolecules, we previously …

DNMT and HDAC inhibitors induce cryptic transcription start sites encoded in long terminal repeats

D Brocks, CR Schmidt, M Daskalakis, HS Jang… - Nature …, 2017 - nature.com
Several mechanisms of action have been proposed for DNA methyltransferase and histone
deacetylase inhibitors (DNMTi and HDACi), primarily based on candidate-gene approaches …

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

SE Castel, A Cervera, P Mohammadi, F Aguet… - Nature …, 2018 - nature.com
Coding variants represent many of the strongest associations between genotype and
phenotype; however, they exhibit inter-individual differences in effect, termed 'variable …

ClinPred: prediction tool to identify disease-relevant nonsynonymous single-nucleotide variants

N Alirezaie, KD Kernohan, T Hartley, J Majewski… - The American Journal of …, 2018 - cell.com
Advances in high-throughput DNA sequencing have revolutionized the discovery of variants
in the human genome; however, interpreting the phenotypic effects of those variants is still a …