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Xavier de la Cruz

Researcher at Catalan Institution for Research and Advanced Studies

Publications -  49
Citations -  3047

Xavier de la Cruz is an academic researcher from Catalan Institution for Research and Advanced Studies. The author has contributed to research in topics: Alternative splicing & Regulation of gene expression. The author has an hindex of 20, co-authored 49 publications receiving 2706 citations. Previous affiliations of Xavier de la Cruz include Hebron University & University of Barcelona.

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PMUT: a web-based tool for the annotation of pathological mutations on proteins

TL;DR: PMUT allows the fast and accurate prediction of the pathological character of single point amino acidic mutations based on the use of neural networks, which are obtained by three procedures: alanine scanning, massive mutation and genetically accessible mutations.
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Do protein motifs read the histone code

TL;DR: Overall, experimental evidence suggests that these domains could be involved in the recruitment of histone‐modifying enzymes to discrete chromosomal locations, and/or in the regulation their enzymatic activity.
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PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes

TL;DR: PupasView is the first resource that integrates phenotypic effects caused by SNPs at both the translational and the transcriptional level and will be of much help in studies of multifactorial disorders, where the use of functional SNPs will increase the sensitivity of the identification of the genes responsible for the disease.
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Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties.

TL;DR: The results indicate that a finer understanding can come only from a quantitative knowledge of protein stability and of the protein environment in the cell, and use of evolutionary information from multiple sequence alignments can be used to increase the knowledge of disease-associated mutations.