Results 31 to 40 of about 483,589 (358)
Science, 2015 A model predicts the impact of variations in the human genome on RNA splicing and disease [Also see Research Article by Xiong et al. ]
Guigó Serra, Roderic +1 more
openaire +4 more sources
Mechanisms of alternative pre-messenger RNA splicing.
Annual Review of Biochemistry, 2003 Alternative pre-mRNA splicing is a central mode of genetic regulation in higher eukaryotes. Variability in splicing patterns is a major source of protein diversity from the genome.
D. Black
semanticscholar +1 more source
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
medRxiv, 2022 Background Genomic variants which disrupt splicing are a major cause of rare genetic diseases. However, variants which lie outside of the canonical splice sites are difficult to interpret clinically. Improving the clinical interpretation of non-canonical
A. Blakes +20 more
semanticscholar +1 more source
Mutations primarily alter the inclusion of alternatively spliced exons
eLife, 2020 Genetic analyses and systematic mutagenesis have revealed that synonymous, non-synonymous and intronic mutations frequently alter the inclusion levels of alternatively spliced exons, consistent with the concept that altered splicing might be a common ...
Pablo Baeza-Centurion +3 more
doaj +1 more source
Theoretical Computer Science, 1996 zbMATH Open Web Interface contents unavailable due to conflicting licenses.
Arto Salomaa +3 more
openaire +2 more sources
Exon sequences at the splice junctions affect splicing fidelity and alternative splicing [PDF]
Proceedings of the National Academy of Sciences, 2009 Identification of splice sites is essential for the expression of most eukaryotic genes, allowing accurate splicing of pre-mRNAs. The splice sites are recognized by the splicing machinery based on sequences within the pre-mRNA. Here, we show that the exon sequences at the splice junctions play a significant, previously unrecognized role in the ...
Luciana B. Crotti, David S. Horowitz
openaire +3 more sources
Splicing and alternative splicing in rice and humans
BMB Reports, 2013 Rice is a monocot gramineous crop, and one of the most important staple foods. Rice is considered a model species for most gramineous crops. Extensive research on rice has provided critical guidance for other crops, such as maize and wheat. In recent years, climate change and exacerbated soil degradation have resulted in a variety of abiotic stresses ...
Lei Wang, Jianhua Zhou, Zhiguo E
openaire +5 more sources
Numerical study of the behaviour of loop bar splicing in joints of reinforced concrete structures
Revista IBRACON de Estruturas e Materiais, 2019 Sometimes straight bar splicing takes up too much space in a reinforced concrete structure due to the required overlapping length. Therefore, in limited space situations, loop joints may be a good solution, which has been spread in civil construction ...
T. D. L.VASCONCELOS, V. G. HAACH
doaj +2 more sources
Kidney Research and Clinical Practice, 2020 Alport syndrome (AS) is a progressive inherited kidney disease characterized by hearing loss and ocular abnormalities. There are three forms of AS depending on inheritance mode: X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and ...
Kandai Nozu +10 more
doaj +1 more source
Evolutionarily conserved regulation of immunity by the splicing factor RNP-6/PUF60
eLife, 2020 Splicing is a vital cellular process that modulates important aspects of animal physiology, yet roles in regulating innate immunity are relatively unexplored. From genetic screens in C.
Chun Kew +5 more
doaj +1 more source