Results 91 to 100 of about 3,677,492 (346)

Analysis of mutable exons of neurofibromatosis Type 1 (NF1) gene in Iranian patients [PDF]

open access: yesمجله علوم پزشکی فیض (پیوسته), 2023
Background: Neurofibromatosis Type 1 (NF1) is an autosomal dominant disease caused by mutations in a tumor suppressor protein called neurofibromin. The NF1 gene consists of 60 exons and due to the large size of the NF1 gene, variation in mutations and ...
Nafiseh Farhadi-Shaheni   +2 more
doaj  

Aβ42 promotes the aggregation of α‐synuclein splice isoforms via heterogeneous nucleation

open access: yesFEBS Letters, EarlyView.
The aggregation of amyloid‐β (Aβ) and α‐synuclein (αSyn) is associated with Alzheimer's and Parkinson's diseases. This study reveals that Aβ aggregates serve as potent nucleation sites for the aggregation of αSyn and its splice isoforms, shedding light on the intricate interplay between these two pathogenic proteins.
Alexander Röntgen   +2 more
wiley   +1 more source

Investigation of miRNA Biology by Bioinformatic Tools and Impact of miRNAs in Colorectal Cancer—Regulatory Relationship of c-Myc and p53 with miRNAs

open access: yesCancer Informatics, 2007
MicroRNAs (miRNAs) are a class of small non-coding RNAs that mediate gene expression at the post-transcriptional and translational levels and have been demonstrated to be involved in diverse biological functions.
Yaguang Xi   +2 more
doaj   +1 more source

Archaeal protein containing domain of unknown function 2193 undergoes oligomeric reconfiguration upon iron–sulfur cluster binding

open access: yesFEBS Letters, EarlyView.
This work presents the characterization of MvoDUF2193, a Methanococcus voltae (Mvo) protein from the domain of unknown function (DUF) 2193 family. We demonstrate that MvoDUF2193 binds a single [4Fe–4S] cluster per subunit and that cluster occupancy regulates the transition from an apo tetramer to a [4Fe–4S] monomeric form. This structural transition is
Emily M. Dieter   +8 more
wiley   +1 more source

Neutrophil deficiency increases T cell numbers at the site of tissue injury in mice

open access: yesFEBS Letters, EarlyView.
In wild‐type mice, injury or acute inflammation induces neutrophil influx followed by macrophage accumulation. Mcl1ΔMyelo (neutrophil‐deficient) mice lack neutrophils, and in response to muscle injury show fewer macrophages and exhibit strikingly elevated T‐cell numbers, primarily non‐conventional “double‐negative” (DN) αβ and γδ T cells.
Hajnalka Halász   +6 more
wiley   +1 more source

Cell‐free DNA aneuploidy score as a dynamic early response marker in prostate cancer

open access: yesMolecular Oncology, EarlyView.
mFast‐SeqS‐based genome‐wide aneuploidy scores are concordant with aneuploidy scores obtained by whole genome sequencing from tumor tissue and can predict response to ARSI treatment at baseline and, at an early time point, to ARSI and taxanes. This assay can be easily performed at low cost and requires little input of cfDNA. Cell‐free circulating tumor
Khrystany T. Isebia   +17 more
wiley   +1 more source

The habu genome reveals accelerated evolution of venom protein genes

open access: yesScientific Reports, 2018
Evolution of novel traits is a challenging subject in biological research. Several snake lineages developed elaborate venom systems to deliver complex protein mixtures for prey capture.
Hiroki Shibata   +23 more
doaj   +1 more source

Detecting DNA cytosine methylation using nanopore sequencing

open access: yesNature Methods, 2017
In nanopore sequencing devices, electrolytic current signals are sensitive to base modifications, such as 5-methylcytosine (5-mC). Here we quantified the strength of this effect for the Oxford Nanopore Technologies MinION sequencer.
J. Simpson   +6 more
semanticscholar   +1 more source

MET variants with activating N‐lobe mutations identified in hereditary papillary renal cell carcinomas still require ligand stimulation

open access: yesMolecular Oncology, EarlyView.
MET variants in the N‐lobe of the kinase domain, found in hereditary papillary renal cell carcinoma, require ligand stimulation to promote cell transformation, in contrast to other RTK variants. This suggests that HGF expression in the microenvironment is important for tumor growth in such patients. Their sensitivity to MET inhibitors opens the way for
Célia Guérin   +14 more
wiley   +1 more source

Gut microbiota in Parkinson's disease: Temporal stability and relations to disease progressionResearch in context

open access: yesEBioMedicine, 2019
Background: Several publications have described differences in cross-sectional comparisons of gut microbiota between patients with Parkinson's disease and control subjects, with considerable variability of the reported differentially abundant taxa.
Velma T.E. Aho   +6 more
doaj  

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