From genotype to phenotype: genetics of mammalian long non-coding RNAs in vivo

D Andergassen, JL Rinn - Nature Reviews Genetics, 2022 - nature.com
Genome-wide sequencing has led to the discovery of thousands of long non-coding RNA
(lncRNA) loci in the human genome, but evidence of functional significance has remained …

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 …

Dynamics of DNA hydroxymethylation and methylation during mouse embryonic and germline development

R Yan, X Cheng, C Gu, Y Xu, X Long, J Zhai, F Sun… - Nature Genetics, 2023 - nature.com
Abstract In mammals, DNA 5-hydroxymethylcytosine (5hmC) is involved in methylation
reprogramming during early embryonic development. Yet, to what extent 5hmC participates …

Localization and abundance analysis of human lncRNAs at single-cell and single-molecule resolution

MN Cabili, MC Dunagin, PD McClanahan, A Biaesch… - Genome biology, 2015 - Springer
Abstract Background Long non-coding RNAs (lncRNAs) have been implicated in diverse
biological processes. In contrast to extensive genomic annotation of lncRNA transcripts, far …

Gene regulation by the act of long non-coding RNA transcription

AE Kornienko, PM Guenzl, DP Barlow, FM Pauler - BMC biology, 2013 - Springer
Long non-protein-coding RNAs (lncRNAs) are proposed to be the largest transcript class in
the mouse and human transcriptomes. Two important questions are whether all lncRNAs are …

[HTML][HTML] X-inactivation, imprinting, and long noncoding RNAs in health and disease

JT Lee, MS Bartolomei - Cell, 2013 - cell.com
X chromosome inactivation and genomic imprinting are classic epigenetic processes that
cause disease when not appropriately regulated in mammals. Whereas X chromosome …

The role of genomic imprinting in biology and disease: an expanding view

J Peters - Nature Reviews Genetics, 2014 - nature.com
Genomic imprinting is an epigenetic phenomenon that results in monoallelic gene
expression according to parental origin. It has long been established that imprinted genes …

Analysing and interpreting DNA methylation data

C Bock - Nature Reviews Genetics, 2012 - nature.com
DNA methylation is an epigenetic mark that has suspected regulatory roles in a broad range
of biological processes and diseases. The technology is now available for studying DNA …

The role of de novo mutations in the genetics of autism spectrum disorders

M Ronemus, I Iossifov, D Levy, M Wigler - Nature Reviews Genetics, 2014 - nature.com
The identification of the genetic components of autism spectrum disorders (ASDs) has
advanced rapidly in recent years, particularly with the demonstration of de novo mutations …

Sex steroids and autoimmune rheumatic diseases: state of the art

M Cutolo, RH Straub - Nature Reviews Rheumatology, 2020 - nature.com
In autoimmune rheumatic diseases, oestrogens can stimulate certain immune responses
(including effects on B cells and innate immunity), but can also have dose-related anti …