Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects

ME Rogalska, C Vivori, J Valcárcel - Nature Reviews Genetics, 2023 - nature.com
The removal of introns from mRNA precursors and its regulation by alternative splicing are
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …

Proteogenomics: concepts, applications and computational strategies

AI Nesvizhskii - Nature methods, 2014 - nature.com
Proteogenomics is an area of research at the interface of proteomics and genomics. In this
approach, customized protein sequence databases generated using genomic and …

The human transcriptome across tissues and individuals

M Melé, PG Ferreira, F Reverter, DS DeLuca… - Science, 2015 - science.org
Transcriptional regulation and posttranscriptional processing underlie many cellular and
organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue …

Multiple evidence strands suggest that there may be as few as 19 000 human protein-coding genes

I Ezkurdia, D Juan, JM Rodriguez… - Human molecular …, 2014 - academic.oup.com
Determining the full complement of protein-coding genes is a key goal of genome
annotation. The most powerful approach for confirming protein-coding potential is the …

Alternative splicing may not be the key to proteome complexity

ML Tress, F Abascal, A Valencia - Trends in biochemical sciences, 2017 - cell.com
Alternative splicing is commonly believed to be a major source of cellular protein diversity.
However, although many thousands of alternatively spliced transcripts are routinely detected …

Alternative splicing and protein diversity: plants versus animals

S Chaudhary, W Khokhar, I Jabre, ASN Reddy… - Frontiers in plant …, 2019 - frontiersin.org
Plants, unlike animals, exhibit a very high degree of plasticity in their growth and
development and employ diverse strategies to cope with the variations during diurnal cycles …

[HTML][HTML] Impact of alternative splicing on the human proteome

Y Liu, M Gonzàlez-Porta, S Santos, A Brazma… - Cell reports, 2017 - cell.com
Alternative splicing is a critical determinant of genome complexity and, by implication, is
assumed to engender proteomic diversity. This notion has not been experimentally tested in …

Transcriptome analysis of human tissues and cell lines reveals one dominant transcript per gene

M Gonzàlez-Porta, A Frankish, J Rung, J Harrow… - Genome biology, 2013 - Springer
Background RNA sequencing has opened new avenues for the study of transcriptome
composition. Significant evidence has accumulated showing that the human transcriptome …

APPRIS: annotation of principal and alternative splice isoforms

JM Rodriguez, P Maietta, I Ezkurdia… - Nucleic acids …, 2013 - academic.oup.com
Here, we present APPRIS (http://appris. bioinfo. cnio. es), a database that houses
annotations of human splice isoforms. APPRIS has been designed to provide value to …

An analysis of tissue-specific alternative splicing at the protein level

JM Rodriguez, F Pozo, T Di Domenico… - PLoS Computational …, 2020 - journals.plos.org
The role of alternative splicing is one of the great unanswered questions in cellular biology.
There is strong evidence for alternative splicing at the transcript level, and transcriptomics …