Alternative splicing in genetic diseases: improved diagnosis and novel treatment options

AJ Bergsma, E van der Wal, M Broeders… - International review of …, 2018 - Elsevier
Alternative splicing is an important mechanism to regulate gene expression and to expand
the repertoire of gene products in order to accommodate an increase in complexity of …

Lessons from modENCODE

JB Brown, SE Celniker - Annual Review of Genomics and …, 2015 - annualreviews.org
The modENCODE (Model Organism Encyclopedia of DNA Elements) Consortium aimed to
map functional elements—including transcripts, chromatin marks, regulatory factor binding …

The Arabidopsis LDL1/2-HDA6 histone modification complex is functionally associated with CCA1/LHY in regulation of circadian clock genes

FY Hung, FF Chen, C Li, C Chen, YC Lai… - Nucleic acids …, 2018 - academic.oup.com
In Arabidopsis, the circadian clock central oscillator genes are important cellular
components to generate and maintain circadian rhythms. There is a negative feedback loop …

Deep learning of the splicing (epi) genetic code reveals a novel candidate mechanism linking histone modifications to ESC fate decision

Y Xu, Y Wang, J Luo, W Zhao, X Zhou - Nucleic acids research, 2017 - academic.oup.com
Alternative splicing (AS) is a genetically and epigenetically regulated pre-mRNA processing
to increase transcriptome and proteome diversity. Comprehensively decoding these …

A chromatin code for alternative splicing involving a putative association between CTCF and HP1α proteins

E Agirre, N Bellora, M Alló, A Pagès, P Bertucci… - BMC biology, 2015 - Springer
Background Alternative splicing is primarily controlled by the activity of splicing factors and
by the elongation of the RNA polymerase II (RNAPII). Recent experiments have suggested a …

Histone marks-dependent effect on alternative splicing: new perspectives for targeted splicing modulation in cancer?

C Imbriano, S Belluti - International Journal of Molecular Sciences, 2022 - mdpi.com
Alternative splicing (AS) is a tightly regulated mechanism that generates the complex human
proteome from a small number of genes. Cis-regulatory RNA motifs in exons and introns …

Histone posttranslational modifications predict specific alternative exon subtypes in mammalian brain

Q Hu, EJ Kim, J Feng, GR Grant… - PLoS computational …, 2017 - journals.plos.org
A compelling body of literature, based on next generation chromatin immunoprecipitation
and RNA sequencing of reward brain regions indicates that the regulation of the epigenetic …

Classifying included and excluded exons in exon skipping event using histone modifications

W Chen, P Feng, H Ding, H Lin - Frontiers in genetics, 2018 - frontiersin.org
Alternative splicing (AS) not only ensures the diversity of gene expression products, but also
closely correlated with genetic diseases. Therefore, knowledge about regulatory …

Histone modifications are associated with transcript isoform diversity in normal and cancer cells

O Podlaha, S De, M Gonen… - PLoS computational …, 2014 - journals.plos.org
Mechanisms that generate transcript diversity are of fundamental importance in eukaryotes.
Although a large fraction of human protein-coding genes and lincRNAs produce more than …

Age-Related Alternative Splicing: Driver or Passenger in the Aging Process?

M Baralle, M Romano - Cells, 2023 - mdpi.com
Alternative splicing changes are closely linked to aging, though it remains unclear if they are
drivers or effects. As organisms age, splicing patterns change, varying gene isoform levels …