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 …

Overview of histone modification

Y Zhang, Z Sun, J Jia, T Du, N Zhang, Y Tang… - Histone Mutations and …, 2021 - Springer
Epigenetics is the epi-information beyond the DNA sequence that can be inherited from
parents to offspring. From years of studies, people have found that histone modifications …

Alternative splicing regulatory networks: functions, mechanisms, and evolution

J Ule, BJ Blencowe - Molecular cell, 2019 - cell.com
High-throughput sequencing-based methods and their applications in the study of
transcriptomes have revolutionized our understanding of alternative splicing. Networks of …

Opportunities and obstacles for deep learning in biology and medicine

T Ching, DS Himmelstein… - Journal of the …, 2018 - royalsocietypublishing.org
Deep learning describes a class of machine learning algorithms that are capable of
combining raw inputs into layers of intermediate features. These algorithms have recently …

Alternative splicing as a regulator of development and tissue identity

FE Baralle, J Giudice - Nature reviews Molecular cell biology, 2017 - nature.com
Alternative splicing of eukaryotic transcripts is a mechanism that enables cells to generate
vast protein diversity from a limited number of genes. The mechanisms and outcomes of …

Aberrant splicing prediction across human tissues

N Wagner, MH Çelik, FR Hölzlwimmer, C Mertes… - Nature …, 2023 - nature.com
Aberrant splicing is a major cause of genetic disorders but its direct detection in
transcriptomes is limited to clinically accessible tissues such as skin or body fluids. While …

Molecular mechanisms of ROS production and oxidative stress in diabetes

P Newsholme, VF Cruzat, KN Keane… - Biochemical …, 2016 - portlandpress.com
Oxidative stress and chronic inflammation are known to be associated with the development
of metabolic diseases, including diabetes. Oxidative stress, an imbalance between oxidative …

RNA splicing factors as oncoproteins and tumour suppressors

H Dvinge, E Kim, O Abdel-Wahab… - Nature Reviews Cancer, 2016 - nature.com
The recent genomic characterization of cancers has revealed recurrent somatic point
mutations and copy number changes affecting genes encoding RNA splicing factors. Initial …

FTO-dependent demethylation of N6-methyladenosine regulates mRNA splicing and is required for adipogenesis

X Zhao, Y Yang, BF Sun, Y Shi, X Yang, W Xiao… - Cell research, 2014 - nature.com
Abstract The role of Fat Mass and Obesity-associated protein (FTO) and its substrate N6-
methyladenosine (m 6 A) in mRNA processing and adipogenesis remains largely unknown …

Splicing and transcription touch base: co-transcriptional spliceosome assembly and function

L Herzel, DSM Ottoz, T Alpert… - Nature reviews Molecular …, 2017 - nature.com
Several macromolecular machines collaborate to produce eukaryotic messenger RNA. RNA
polymerase II (Pol II) translocates along genes that are up to millions of base pairs in length …