Results 41 to 50 of about 12,984 (193)

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis [v2; ref status: indexed, http://f1000r.es/54y]

F1000Research, 2015
The interpretation of genomic variants has become one of the paramount challenges in the post-genome sequencing era. In this review we summarize nearly 20 years of research on the applications of information theory (IT) to interpret coding and non-coding
Natasha G. Caminsky, Eliseos J. Mucaki, Peter K. Rogan   +2 more
doaj   +1 more source

A broad analysis of splicing regulation in yeast using a large library of synthetic introns.

PLoS Genetics, 2021
RNA splicing is a key process in eukaryotic gene expression, in which an intron is spliced out of a pre-mRNA molecule to eventually produce a mature mRNA.
Dvir Schirman, Zohar Yakhini, Yitzhak Pilpel, Orna Dahan   +3 more
doaj   +1 more source

Urine mRNA to identify a novel pseudoexon causing dystrophinopathy

Annals of Clinical and Translational Neurology, 2019
In muscular dystrophies, identification of pathogenic pseudoexons involves sequencing of the target gene cDNA derived from muscle mRNA. Here we use a urine “liquid biopsy,” droplet digital PCR, and sequencing of PCR products to identify a novel cryptic ...
Layal Antoury, Ningyan Hu, Basil Darras, Thurman M. Wheeler   +3 more
doaj   +1 more source

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis [v1; ref status: indexed, http://f1000r.es/4nq]

F1000Research, 2014
The interpretation of genomic variants has become one of the paramount challenges in the post-genome sequencing era. In this review we summarize nearly 20 years of research on the applications of information theory (IT) to interpret coding and non-coding
Natasha Caminsky, Eliseos J. Mucaki, Peter K. Rogan   +2 more
doaj   +1 more source

Activation of a cryptic 5′ splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene [PDF]

Nucleic Acids Research, 2017
Spinal muscular atrophy (SMA) is caused by deletions or mutations of the Survival Motor Neuron 1 (SMN1) gene coupled with predominant skipping of SMN2 exon 7. The only approved SMA treatment is an antisense oligonucleotide that targets the intronic splicing silencer N1 (ISS-N1), located downstream of the 5' splice site (5'ss) of exon 7.
Singh, Natalia, Del Rio-Malewski, Jose Bruno, Luo, Diou, Singh, Ravindra, Ottesen, Eric, Howell, Matthew   +5 more
openaire   +3 more sources

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations. [PDF]

PLoS ONE, 2013
Several unclassified variants (UVs) have been identified in splicing regions of disease-associated genes and their characterization as pathogenic mutations or benign polymorphisms is crucial for the understanding of their role in disease development.
Mara Colombo, Giovanna De Vecchi, Laura Caleca, Claudia Foglia, Carla B Ripamonti, Filomena Ficarazzi, Monica Barile, Liliana Varesco, Bernard Peissel, Siranoush Manoukian, Paolo Radice   +10 more
doaj   +1 more source

Biased exon/intron distribution of cryptic and de novo 3' splice sites [PDF]

Nucleic Acids Research, 2005
We compiled sequences of previously published aberrant 3' splice sites (3'ss) that were generated by mutations in human disease genes. Cryptic 3'ss, defined here as those resulting from a mutation of the 3'YAG consensus, were more frequent in exons than in introns. They clustered in approximately 20 nt region adjacent to authentic 3'ss, suggesting that
Královičová, Jana, Christensen, Mikkel B., Vořechovský, Igor   +2 more
openaire   +3 more sources

Alternative splicing attenuates transgenic expression directed by the apolipoprotein E promoter-enhancer based expression vector pLIV11[S]

Journal of Lipid Research, 2010
The plasmid vector pLIV11 is used commonly to achieve liver-specific expression of genes of interest in transgenic mice and rabbits. Expression is driven by the human apolipoprotein (apo)E 5′ proximal promoter, which includes 5 kb of upstream sequence ...
Dongmei Cheng, Philip S. MacArthur, Shunxing Rong, John S. Parks, Gregory S. Shelness   +4 more
doaj   +1 more source

Dissection of splicing regulation at an endogenous locus by zinc-finger nuclease-mediated gene editing. [PDF]

PLoS ONE, 2011
Sequences governing RNA splicing are difficult to study in situ due to the great difficulty of traditional targeted mutagenesis. Zinc-finger nuclease (ZFN) technology allows for the rapid and efficient introduction of site-specific mutations into ...
Sandra Cristea, Philip D Gregory, Fyodor D Urnov, Gregory J Cost   +3 more
doaj   +1 more source

PANoptosis in the pathogenesis of myelodysplastic syndromes

Molecular Oncology, EarlyView.
PANoptosis, a combination of three types of programmed cell death, is mediated by a large protein complex called a PANoptosome. In healthy bone marrow hematopoietic cells, PANoptosis is restricted by inhibitory signaling. In MDS, bone marrow cells become sensitive to the PANoptotic stimuli due to the aberrant inactivation of inhibitory signaling or ...
Rohit Thalla, Jyoti Lamichhane, Cameron Lewis, Peter Breslin, Jiwang Zhang   +4 more
wiley   +1 more source