Results 31 to 40 of about 232,441 (272)

A striatal-enriched intronic GPCR modulates huntingtin levels and toxicity

open access: yeseLife, 2015
Huntington's disease (HD) represents an important model for neurodegenerative disorders and proteinopathies. It is mainly caused by cytotoxicity of the mutant huntingtin protein (Htt) with an expanded polyQ stretch.
Yuwei Yao   +11 more
doaj   +1 more source

Comparative analysis of transposed element insertion within human and mouse genomes reveals Alu's unique role in shaping the human transcriptome [PDF]

open access: yesGenome Biology 2007, 8:R127, 2008
Background: Transposed elements (TEs) have a substantial impact on mammalian evolution and are involved in numerous genetic diseases. We compared the impact of TEs on the human transcriptome and the mouse transcriptome. Results: We compiled a dataset of all TEs in the human and mouse genomes, identifying 3,932,058 and 3,122,416 TEs, respectively.
arxiv   +1 more source

Inhibition of acyl‐CoA synthetase long‐chain isozymes decreases multiple myeloma cell proliferation and causes mitochondrial dysfunction

open access: yesMolecular Oncology, EarlyView.
Triacsin C inhibition of the acyl‐CoA synthetase long chain (ACSL) family decreases multiple myeloma cell survival, proliferation, mitochondrial respiration, and membrane potential. Made with Biorender.com. Multiple myeloma (MM) is an incurable cancer of plasma cells with a 5‐year survival rate of 59%.
Connor S. Murphy   +12 more
wiley   +1 more source

The evolutionary dynamics that retain long neutral genomic sequences in face of indel deletion bias: a model and its application to human introns

open access: yesOpen Biology, 2022
Insertions and deletions (indels) of short DNA segments are common evolutionary events. Numerous studies showed that deletions occur more often than insertions in both prokaryotes and eukaryotes.
Gil Loewenthal   +5 more
doaj   +1 more source

Monte Carlo simulations of the inside-intron recombination [PDF]

open access: yes, 2005
Biological genomes are divided into coding and non-coding regions. Introns are non-coding parts within genes, while the remaining non-coding parts are intergenic sequences. To study the evolutionary significance of recombination inside introns we have used two models based on the Monte Carlo method.
arxiv   +1 more source

Transcriptome‐wide analysis of circRNA and RBP profiles and their molecular relevance for GBM

open access: yesMolecular Oncology, EarlyView.
CircRNAs are differentially expressed in glioblastoma primary tumors and might serve as therapeutic targets and diagnostic markers. The investigation of circRNA and RNA‐binding proteins (RBPs) interactions shows that distinct RBPs play a role in circRNA biogenesis and function.
Julia Latowska‐Łysiak   +14 more
wiley   +1 more source

Introns: the “dark matter” of the eukaryotic genome

open access: yesFrontiers in Genetics, 2023
The emergence of introns was a significant evolutionary leap that is a major distinguishing feature between prokaryotic and eukaryotic genomes. While historically introns were regarded merely as the sequences that are removed to produce spliced ...
Kaitlin N. Girardini   +4 more
doaj   +1 more source

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

open access: yesMolecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser   +11 more
wiley   +1 more source

Genetic Variability and Genetic Differentiation of Populations in the Grooved Carpet Shell Clam (Ruditapes decussatus) Based on Intron Polymorphisms

open access: yesOceans
The grooved carpet-shell clam is one of the most economically relevant shellfish species living in the Mediterranean and nearby Atlantic coasts. Previous studies using different types of genetic markers showed a remarkable genetic divergence of the ...
Carlos Saavedra, David Cordero
doaj   +1 more source

ShcD adaptor protein drives invasion of triple negative breast cancer cells by aberrant activation of EGFR signaling

open access: yesMolecular Oncology, EarlyView.
We identified adaptor protein ShcD as upregulated in triple‐negative breast cancer and found its expression to be correlated with reduced patient survival and increased invasion in cell models. Using a proteomic screen, we identified novel ShcD binding partners involved in EGFR signaling pathways.
Hayley R. Lau   +11 more
wiley   +1 more source

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