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A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis. [PDF]

open access: yesCEN Case Rep
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The splicing code

Biosystems, 2018
This issue dedicated to the code of life tackles very challenging and open questions in Biology. The genetic code, brilliantly uncovered over 50 years ago is an example of a univocal biological code. In fact, except for very few and marginal variations, it is the same from bacteria to man, the RNA stretch: 5' GUGUUC 3' reads as the dipeptide: Val-Phe ...
Marco Baralle, Francisco E. Baralle
openaire   +2 more sources

Specificity in splicing

BioEssays, 1994
AbstractConsiderable information about the process of premRNA splicing has accmulated, but the mechanism by which highly accurate splicing is achieved is unresolved. Fifteen years ago we proposed that accuracy in splicing might depend on small RNA molecules (splicer RNAs) which hybridise across adjacent exon termini, or intron termini. Gene expression,
R, Holliday, V, Murray
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Sweet splicing

Cell, 2023
Glucose is the main source of energy for cells. In this issue of Cell, a study now shows that glucose has additional non-energetic functions, acting as a biomolecular cue that regulates alternative splicing during epidermal differentiation. As keratinocytes differentiate, glucose associates with RNA-binding protein DDX21 and modulates its interaction ...
openaire   +3 more sources

Program splicing

Proceedings of the 40th International Conference on Software Engineering, 2018
We introduce program splicing, a programming methodology that aims to automate the workflow of copying, pasting, and modifying code available online. Here, the programmer starts by writing a "draft" that mixes unfinished code, natural language comments, and correctness requirements. A program synthesizer that interacts with a large, searchable database
Yanxin Lu   +3 more
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Splicing to the Limit

2003
We consider the result of a wet splicing procedure after the reaction has run to its completion, or limit, and we try to describe the molecules that will be present at this final stage. In language theoretic terms the splicing procedure is modeled as an H system, and the molecules that we want to consider correspond to a subset of the splicing language
Elizabeth Goode, Dennis Pixton
openaire   +1 more source

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