Results 71 to 80 of about 348,774 (324)

C9orf72 ALS‐causing mutations lead to mislocalization and aggregation of nucleoporin Nup107 into stress granules

open access: yesFEBS Letters, EarlyView.
Mutations in the C9orf72 gene represent the most common genetic cause of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Using patient‐derived neurons and C. elegans models, we find that the nucleoporin Nup107 is dysregulated in C9orf72‐associated ALS. Conversely, reducing Nup107 levels mitigates disease‐related changes.
Saygın Bilican   +7 more
wiley   +1 more source

Reactivating Fetal Hemoglobin Expression in Human Adult Erythroblasts Through BCL11A Knockdown Using Targeted Endonucleases. [PDF]

open access: yes, 2016
We examined the efficiency, specificity, and mutational signatures of zinc finger nucleases (ZFNs), transcriptional activator-like effector nucleases (TALENs), and clustered regularly interspaced short palindromic repeat (CRISPR)/Cas9 systems designed to
Bjurström, Carmen F   +11 more
core   +3 more sources

From lactation to malignancy: A comparison between healthy and cancerous breast gland at single‐cell resolution reveals new issues for tumorigenesis

open access: yesFEBS Letters, EarlyView.
Single‐cell RNA sequencing reveals an opposite role of SLPI in basal tumors based on metastatic spread, along with shared activation of specific regulons in cancer cells and mature luminal lactocytes, as well as downregulation of MALAT1 and NEAT1 in the latter.
Pietro Ancona   +4 more
wiley   +1 more source

Regulation of EZH2 by SMYD2-Mediated Lysine Methylation Is Implicated in Tumorigenesis

open access: yesCell Reports, 2019
Summary: The histone methyl transferase enhancer of zeste homolog 2 (EZH2) is a master transcriptional regulator involved in histone H3 lysine 27 trimethylation.
Yi Zeng   +16 more
doaj   +1 more source

An HIV feedback resistor: auto-regulatory circuit deactivator and noise buffer. [PDF]

open access: yes, 2006
Animal viruses (e.g., lentiviruses and herpesviruses) use transcriptional positive feedback (i.e., transactivation) to regulate their gene expression.
Shenk, Thomas, Weinberger, Leor S
core   +4 more sources

Imeglimin attenuates liver fibrosis by inhibiting vesicular ATP release from hepatic stellate cells

open access: yesFEBS Letters, EarlyView.
Imeglimin, at clinically relevant concentrations, inhibits vesicular ATP accumulation and release from hepatic stellate cells, thereby attenuating purinergic signaling and reducing fibrogenic activation. This mechanism reveals a newly identified antifibrotic action of imeglimin beyond glycemic control.
Seiji Nomura   +8 more
wiley   +1 more source

Genome-wide alternative splicing profile in the posterior kidney of brown trout (Salmo trutta) during proliferative kidney disease

open access: yesBMC Genomics, 2022
Background The cnidarian myxozoan parasite Tetracapsuloides bryosalmonae causes chronic proliferative kidney disease (PKD) in salmonids. This parasite is a serious threat to wild and cultured salmonids. T.
Arun Sudhagar   +2 more
doaj   +1 more source

Cancer cell death induced by the NAD antimetabolite Vacor discloses the antitumor potential of SARM1

open access: yesFEBS Letters, EarlyView.
Vacor, a compound converted into the toxic metabolite Vacor adenine dinucleotide (VAD) by the nicotinamide salvage pathway enzymes NAMPT and NMNAT2, exhibits antitumor activity by inducing rapid and complete NAD depletion. We report that Vacor toxicity is limited to cell lines expressing high levels of SARM1, a NAD glycohydrolase.
Giuseppe Ranieri   +5 more
wiley   +1 more source

Deciphering the pseudouridine nucleobase modification in human diseases: From molecular mechanisms to clinical perspectives

open access: yesClinical and Translational Medicine
RNA pseudouridylation, a dynamic and reversible post‐transcriptional modification found in diverse RNA species, is crucial for various biological processes, including tRNA homeostasis, tRNA transport, translation initiation regulation, pre‐mRNA splicing,
Shiheng Jia   +10 more
doaj   +1 more source

Epigenomes in Cardiovascular Disease. [PDF]

open access: yes, 2018
If unifying principles could be revealed for how the same genome encodes different eukaryotic cells and for how genetic variability and environmental input are integrated to impact cardiovascular health, grand challenges in basic cell biology and ...
McKinsey TA   +4 more
core   +1 more source

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