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 …

Local regulation of gene expression by lncRNA promoters, transcription and splicing

JM Engreitz, JE Haines, EM Perez, G Munson, J Chen… - Nature, 2016 - nature.com
Mammalian genomes are pervasively transcribed, to produce thousands of long non-coding
RNAs (lncRNAs),. A few of these lncRNAs have been shown to recruit regulatory complexes …

Local and systemic insulin resistance resulting from hepatic activation of IKK-β and NF-κB

D Cai, M Yuan, DF Frantz, PA Melendez, L Hansen… - Nature medicine, 2005 - nature.com
We show that NF-κB and transcriptional targets are activated in liver by obesity and high-fat
diet (HFD). We have matched this state of chronic, subacute'inflammation'by low-level …

Dynamic integration of splicing within gene regulatory pathways

U Braunschweig, S Gueroussov, AM Plocik… - Cell, 2013 - cell.com
Precursor mRNA splicing is one of the most highly regulated processes in metazoan
species. In addition to generating vast repertoires of RNAs and proteins, splicing has a …

Pre-mRNA processing reaches back totranscription and ahead to translation

MJ Moore, NJ Proudfoot - Cell, 2009 - cell.com
The pathway from gene activation in the nucleus to mRNA translation and decay at specific
locations in the cytoplasm is both streamlined and highly interconnected. This review …

Splicing of nascent RNA coincides with intron exit from RNA polymerase II

FC Oesterreich, L Herzel, K Straube, K Hujer, J Howard… - Cell, 2016 - cell.com
Protein-coding genes in eukaryotes are transcribed by RNA polymerase II (Pol II) and
introns are removed from pre-mRNA by the spliceosome. Understanding the time lag …

Increased amyloid-β42 (43) in brains of mice expressing mutant presenilin 1

K Duff, C Eckman, C Zehr, X Yu, CM Prada, J Perez-Tur… - Nature, 1996 - nature.com
MUTATIONS in the genes encoding amyloid-β precursor protein (APP) 1 presenilin 1 (PS1)
2 and presenilin 2 (PS2) 3, 4 are known to cause early-onset, autosomal dominant …

[HTML][HTML] Co-transcriptional splicing regulates 3′ end cleavage during mammalian erythropoiesis

KA Reimer, CA Mimoso, K Adelman, KM Neugebauer - Molecular cell, 2021 - cell.com
Pre-mRNA processing steps are tightly coordinated with transcription in many organisms. To
determine how co-transcriptional splicing is integrated with transcription elongation and 3 …

How introns influence and enhance eukaryotic gene expression

H Le Hir, A Nott, MJ Moore - Trends in biochemical sciences, 2003 - cell.com
Although it has been known since the late 1970s that intron-containing and intronless
versions of otherwise identical genes can exhibit dramatically different expression profiles …