Results 161 to 170 of about 531,444 (314)

Simulating Illumina data with InSilicoSeq

open access: yes, 2017
InSilicoSeq (or iss) is a sequencing simulator producing (relatively) realistic Illumina reads primarily intended for simulating metagenomic samples, although it can be used to produce sequencing data from a single genome.InSilicoSeq is written in python, and use a kernel density estimation model to model the read quality of real sequencing data ...
openaire   +1 more source

PRMT1‐Mediated LDHA Methylation Drives STAT3 Lactylation to Orchestrate Intestinal Inflammation and Tumorigenesis

open access: yesAdvanced Science, EarlyView.
This study identifies an immunometabolic axis wherein SAM‐driven PRMT1 methylates LDHA, enhancing its activity. The resultant lactate induces STAT3 K709 lactylation, which stabilizes an active conformation to promote STAT3 phosphorylation and IL‐10 expression.
Hui Wang   +12 more
wiley   +1 more source

P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencing

open access: yesGenetics in Medicine Open
Joshua Lowry   +12 more
doaj   +1 more source

P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population

open access: yesGenetics in Medicine Open, 2023
Brittany Thomas   +10 more
doaj   +1 more source

RNA Helicase DDX21 Controls CD4+ T Cell Proliferation and Promotes Inflammatory Bowel Disease via Translational Control

open access: yesAdvanced Science, EarlyView.
ABSTRACT Inflammatory bowel disease (IBD) is characterized by dysregulated T cell responses. RNA helicases, including DExD‐box helicase 21 (DDX21), are pivotal in RNA metabolism, but their role in T cell‐mediated pathology during IBD remains unclear. Here, we demonstrate that DDX21 expression in CD4+ T cells correlates with cell cycle and translation ...
Yujuan Zhang   +11 more
wiley   +1 more source

Enhanced Glycolysis‐Driven Histone H3K18 Lactylation Regulates Epileptogenesis by Modulating the E3 Ubiquitin Ligase COP1

open access: yesAdvanced Science, EarlyView.
Neuronal PKM2‐driven glycolysis generates excess lactate that triggers histone H3K18 lactylation (H3K18la), establishing a pathogenic metabolic‐epigenetic axis in epilepsy. Elevated H3K18la enriches the Cop1 promoter, transcriptionally upregulating the E3 ubiquitin ligase COP1, which subsequently drives proteasomal degradation of GABAARβ2 and impairs ...
Yuan Meng   +8 more
wiley   +1 more source

P761: Calculating maternal polygenic risk scores from prenatal screening by cell-free DNA data*

open access: yesGenetics in Medicine Open
Sung Kim   +9 more
doaj   +1 more source

Canagliflozin Alleviates Diabetic Glomerular Endothelial Injury via Melibiose in a Microbiota‐Dependent Manner

open access: yesAdvanced Science, EarlyView.
Canagliflozin treatment reshapes the gut microbiota in DKD and elevates levels of melibiose, a metabolite derived from Roseburia intestinalis. Melibiose directly binds to and enhances the enzymatic activity of glyoxalase 1, leading to decreased methylglyoxal accumulation.
Wei Zhang   +32 more
wiley   +1 more source

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