Non-coding RNAs in development and disease: background, mechanisms, and therapeutic approaches

J Beermann, MT Piccoli, J Viereck… - Physiological …, 2016 - journals.physiology.org
Advances in RNA-sequencing techniques have led to the discovery of thousands of non-
coding transcripts with unknown function. There are several types of non-coding linear …

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

D Monk, DJG Mackay, T Eggermann, ER Maher… - Nature Reviews …, 2019 - nature.com
Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset
of genes, is required for normal development, and its disruption leads to human disease …

Roles of eukaryotic topoisomerases in transcription, replication and genomic stability

Y Pommier, Y Sun, SN Huang, JL Nitiss - Nature reviews Molecular cell …, 2016 - nature.com
Topoisomerases introduce transient DNA breaks to relax supercoiled DNA, remove
catenanes and enable chromosome segregation. Human cells encode six topoisomerases …

Target identification among known drugs by deep learning from heterogeneous networks

X Zeng, S Zhu, W Lu, Z Liu, J Huang, Y Zhou… - Chemical …, 2020 - pubs.rsc.org
Without foreknowledge of the complete drug target information, development of promising
and affordable approaches for effective treatment of human diseases is challenging. Here …

R loops: new modulators of genome dynamics and function

JM Santos-Pereira, A Aguilera - Nature Reviews Genetics, 2015 - nature.com
R loops are nucleic acid structures composed of an RNA–DNA hybrid and a displaced
single-stranded DNA. Recently, evidence has emerged that R loops occur more often in the …

Cas9 gene therapy for Angelman syndrome traps Ube3a-ATS long non-coding RNA

JM Wolter, H Mao, G Fragola, JM Simon, JL Krantz… - Nature, 2020 - nature.com
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by a mutation or
deletion of the maternally inherited UBE3A allele. In neurons, the paternally inherited …

Genomic imprinting in mammals

DP Barlow, MS Bartolomei - Cold Spring Harbor …, 2014 - cshperspectives.cshlp.org
Genomic imprinting affects a subset of genes in mammals and results in a monoallelic,
parental-specific expression pattern. Most of these genes are located in clusters that are …

A double-edged sword: R loops as threats to genome integrity and powerful regulators of gene expression

K Skourti-Stathaki, NJ Proudfoot - Genes & development, 2014 - genesdev.cshlp.org
R loops are three-stranded nucleic acid structures that comprise nascent RNA hybridized
with the DNA template, leaving the nontemplate DNA single-stranded. R loops form naturally …

Towards a therapy for Angelman syndrome by targeting a long non-coding RNA

L Meng, AJ Ward, S Chun, CF Bennett, AL Beaudet… - Nature, 2015 - nature.com
Angelman syndrome is a single-gene disorder characterized by intellectual disability,
developmental delay, behavioural uniqueness, speech impairment, seizures and ataxia,. It …

Angelman syndrome—insights into a rare neurogenetic disorder

K Buiting, C Williams, B Horsthemke - Nature Reviews Neurology, 2016 - nature.com
Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly,
severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic …