Integrating splice-isoform expression into genome-scale models characterizes breast cancer metabolism [PDF]
Motivation: Despite being often perceived as the main contributors to cell fate and physiology, genes alone cannot predict cellular phenotype. During the process of gene expression, 95% of human genes can code for multiple proteins due to alternative splicing.
arxiv +1 more source
The role of alternative splicing in cancer [PDF]
The functional capacity of cells is defined by the transcriptome. Many recent studies have identified variations in the transcriptome of tumors due to alternative splicing changes, as well as mutations in splicing factors and regulatory signals in most tumor types.
Babita Singh, Eduardo Eyras
openaire +4 more sources
Extraction of Transcript Diversity from Scientific Literature [PDF]
Transcript diversity generated by alternative splicing and associated mechanisms contributes heavily to the functional complexity of biological systems.
Lars J Jensen+4 more
core +6 more sources
A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay [PDF]
BACKGROUND: Coupling of alternative splicing with nonsense-mediated mRNA decay (NMD) may regulate gene expression. We report here the identification of a nonsense alternative transcript of the fumarylacetoacetate hydrolase (fah) gene, which produces a ...
Bergeron, Anne+4 more
core +3 more sources
Complex Alternative Splicing [PDF]
Alternative splicing is a powerful means of controlling gene expression and increasing protein diversity. Most genes express a limited number of mRNA isoforms, but there are several examples of genes that use alternative splicing to generate hundreds, thousands and even tens of thousands of isoforms.
Jung Woo Park, Brenton R. Graveley
openaire +3 more sources
Crosscap numbers of alternating knots via unknotting splices [PDF]
Ito-Takimura recently defined a splice-unknotting number $u^-(D)$ for knot diagrams. They proved that this number provides an upper bound for the crosscap number of any prime knot, asking whether equality holds in the alternating case. We answer their question in the affirmative.
arxiv +1 more source
Alternative splicing and muscular dystrophy [PDF]
Alternative splicing of pre-mRNAs is a major contributor to proteomic diversity and to the control of gene expression in higher eukaryotic cells. For this reasons, alternative splicing is tightly regulated in different tissues and developmental stages and its disruption can lead to a wide range of human disorders.
Pistoni M, Ghigna C, Gabellini D
openaire +3 more sources
Making tau amyloid models in vitro: a crucial and underestimated challenge
This review highlights the challenges of producing in vitro amyloid assemblies of the tau protein. We review how accurately the existing protocols mimic tau deposits found in the brain of patients affected with tauopathies. We discuss the important properties that should be considered when forming amyloids and the benchmarks that should be used to ...
Julien Broc, Clara Piersson, Yann Fichou
wiley +1 more source
Discover hidden splicing variations by mapping personal transcriptomes to personal genomes. [PDF]
RNA-seq has become a popular technology for studying genetic variation of pre-mRNA alternative splicing. Commonly used RNA-seq aligners rely on the consensus splice site dinucleotide motifs to map reads across splice junctions.
Bahrami-Samani, Emad+4 more
core +2 more sources
A Novel Prognostic Index Based on Alternative Splicing in Papillary Renal Cell Carcinoma
BackgroundPapillary renal cell carcinoma (pRCC) is a heterogeneous multifocal or isolated tumor with an invasive phenotype. Previous studies presented that alternative splicing, as a crucial posttranscriptional regulator in gene expression, is associated
Zhipeng Wu+6 more
doaj +1 more source