Results 141 to 150 of about 131,177 (265)

Development and analytical validation of a targeted short‐read next generation sequencing‐based pharmacogenetic panel for comprehensive variant detection

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Genomic profiling of patients for genetic variants that modify the effect of specific medications has many benefits, including the possibility of avoiding toxicities and ensuring an adequate effect of the medication. Our intention was to develop a comprehensive, high‐quality pharmacogenetic test panel for clinical use ...
Anna Gréen, Nils Johan Fredriksson, Michael Andresen, Jon Jonasson, Malin Lindqvist Appell, Henrik Gréen   +5 more
wiley   +1 more source

Whole Exome Sequencing Reveals Potential Single Nucleotide Polymorphisms and Copy Number Variations in 26 Sporadic Patients with Immature Teratoma. [PDF]

Int J Gen Med
Liu Y, Jia Y, Du N, Li Y, Wang C, Kang S.   +5 more
europepmc   +1 more source

Oncogenic BRAF and KRAS Promote Global DNA Hypomethylation Through a Directed Pathway That Upregulates TET3

Cancer Science, EarlyView.
Oncogenic BRAF and KRAS promote global DNA hypomethylation through a directed pathway that increases the levels of TET3, which helps drive tumorigenesis. ABSTRACT Aberrant epigenetic modification is one of the characteristics of the cancer genome.
Ichiro Onoyama, W. Rod Hardy, Shoichiro Takeishi, Lihua Julie Zhu, Yanglan Tan, Lloyd Hutchinson, Jianhong Ou, Leyuan Ma, Ching‐Man Virbasius, Masafumi Yasunaga, Keiichi I. Nakayama, Scott A. Shaffer, Michael R. Green   +12 more
wiley   +1 more source

Oxidative Stress Drives Cell Cycle Stalling, Apoptosis and Metabolic Suppression in Cystatin B Deficient EPM1 Patient iPSCs

Cell Proliferation, EarlyView.
CSTB deficient EPM1 iPS cells manifest increased lysosomal activity and oxidative stress, which lead to DNA damage, cell cycle defects and increased apoptosis. As a protective response, metabolism is suppressed. Image created by BioRender https://BioRender.com/t44oc6h.
Shekhar Singh, Lidiia Plotnikova, Teemu Tiukuvaara, Reetta Kälviäinen, Riikka H. Hämäläinen   +4 more
wiley   +1 more source

Role of RNA 5‑methylcytosine modification in cancer: Insights from coding and non‑coding RNAs (Review). [PDF]

Mol Med Rep
Jiang Q, Gong Y, Zhai M, Tang T, Liu S.
europepmc   +1 more source

KU80 suppresses endonuclease G activity to preserve genomic integrity

The FEBS Journal, EarlyView.
Under normal conditions, EndoG remains restricted to mitochondria and the genome remains intact. When KU80 is absent, EndoG translocates into the nucleus, where it promotes DNA fragmentation and genomic instability. Thus, this work highlights the importance of KU80 in tightly controlling EndoG localization to preserve genome stability.
Jargalan Batsaikhan, Kwang‐Hyun Park, Hae Ryung Chang, Eunyoung Jung, Myung‐Jin Kim, Jeeyoon Kang, Hyunjo Shim, Eui‐Jeon Woo, Yonghwan Kim   +8 more
wiley   +1 more source

Enzyme structure and kinetics produce tRNA and nucleotide specificity of Schizosaccharomyces pombe CC- and A-adding enzymes. [PDF]

Nucleic Acids Res
Sikkema AP, Klemm BP, Perera L, Hall TMT.   +3 more
europepmc   +1 more source

Contrasting effects of different molecular crowding environments on base‐pair opening/closing dynamics of DNA triplex structures

The FEBS Journal, EarlyView.
Base‐pair opening and closing regulate nucleic‐acid structure, stability, and function, but how these motions behave under intracellular molecular crowding remains unclear. Using NMR, we quantified these dynamics in a DNA triplex under two crowder‐reconstituted environments that mimic cellular crowding.
Tomoki Sakamoto, Yudai Yamaoki, Takashi Nagata, Masato Katahira   +3 more
wiley   +1 more source

Stability and Reactivity of Cyclopentane Nucleoside Analogs in 98% <i>w</i>/<i>w</i> Sulfuric Acid. [PDF]

Molecules
Seager S, Seager MD, Visser T, Marinus N, Poizat M, van Wiltenburg J, Poelert M, Petkowski JJ.   +7 more
europepmc   +1 more source

Iloperidone treatment mitigates the Juvenile Huntington's Disease phenotype possibly via Sigma‐1 Receptor Modulation

The FEBS Journal, EarlyView.
We investigated the potential of iloperidone as an activator of Sigma‐1 receptor (S1R) neuroprotective function in juvenile Huntington's disease (jHD). We tested iloperidone on cortical neurons differentiated from patient‐derived iPSCs, demonstrating that it acts as a S1R agonist, decreasing apoptosis, huntingtin aggregation, and oxidative stress ...
Ersilia Fornetti, Gaia Galluzzi, Mario Frezzini, Cécile Exertier, Vittorio Brufani, Gianni Colotti, Giancarlo Ruocco, Jessica Rosati, Angelo Luigi Vescovi, Daniele Narzi, Ilaria Genovese, Andrea Ilari   +11 more
wiley   +1 more source