Deep intronic mutations and human disease

R Vaz-Drago, N Custódio, M Carmo-Fonseca - Human genetics, 2017 - Springer
Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a
substantial proportion of patients, sequence information restricted to exons and exon–intron …

How introns enhance gene expression

O Shaul - The international journal of biochemistry & cell biology, 2017 - Elsevier
In many eukaryotes, including mammals, plants, yeast, and insects, introns can increase
gene expression without functioning as a binding site for transcription factors. This …

Exon-intron circular RNAs regulate transcription in the nucleus

Z Li, C Huang, C Bao, L Chen, M Lin, X Wang… - Nature structural & …, 2015 - nature.com
Noncoding RNAs (ncRNAs) have numerous roles in development and disease, and one of
the prominent roles is to regulate gene expression. A vast number of circular RNAs …

Modulating epigenetic modifications for cancer therapy

LJ Castro-Muñoz, E Vázquez Ulloa… - Oncology …, 2023 - spandidos-publications.com
Cancer is a global public health concern. Alterations in epigenetic processes are among the
earliest genomic aberrations occurring during cancer development and are closely related …

Molecular roles and function of circular RNAs in eukaryotic cells

LM Holdt, A Kohlmaier, D Teupser - Cellular and Molecular Life Sciences, 2018 - Springer
Protein-coding and noncoding genes in eukaryotes are typically expressed as linear
messenger RNAs, with exons arranged colinearly to their genomic order. Recent advances …

RNA-RNA interactions enable specific targeting of noncoding RNAs to nascent Pre-mRNAs and chromatin sites

JM Engreitz, K Sirokman, P McDonel, AA Shishkin… - Cell, 2014 - cell.com
Intermolecular RNA-RNA interactions are used by many noncoding RNAs (ncRNAs) to
achieve their diverse functions. To identify these contacts, we developed a method based on …

[HTML][HTML] U1 snRNP increases RNA Pol II elongation rate to enable synthesis of long genes

CA Mimoso, K Adelman - Molecular cell, 2023 - cell.com
The expansion of introns within mammalian genomes poses a challenge for the production
of full-length messenger RNAs (mRNAs), with increasing evidence that these long AT-rich …

Epigenetics and gene expression

ER Gibney, CM Nolan - Heredity, 2010 - nature.com
Transcription, translation and subsequent protein modification represent the transfer of
genetic information from the archival copy of DNA to the short-lived messenger RNA, usually …

Regulation of alternative splicing through coupling with transcription and chromatin structure

S Naftelberg, IE Schor, G Ast… - Annual review of …, 2015 - annualreviews.org
Alternative precursor messenger RNA (pre-mRNA) splicing plays a pivotal role in the flow of
genetic information from DNA to proteins by expanding the coding capacity of genomes …

Non-coding RNA

JS Mattick, IV Makunin - Human molecular genetics, 2006 - academic.oup.com
The term non-coding RNA (ncRNA) is commonly employed for RNA that does not encode a
protein, but this does not mean that such RNAs do not contain information nor have function …