Non-coding genetic variants in human disease

F Zhang, JR Lupski - Human molecular genetics, 2015 - academic.oup.com
Genetic variants, including single-nucleotide variants (SNVs) and copy number variants
(CNVs), in the non-coding regions of the human genome can play an important role in …

Volatile evolution of long noncoding RNA repertoires: mechanisms and biological implications

A Kapusta, C Feschotte - Trends in Genetics, 2014 - cell.com
Thousands of genes encoding long noncoding RNAs (lncRNAs) have been identified in all
vertebrate genomes thus far examined. The list of lncRNAs partaking in arguably important …

Circ2Traits: a comprehensive database for circular RNA potentially associated with disease and traits

S Ghosal, S Das, R Sen, P Basak… - Frontiers in genetics, 2013 - frontiersin.org
Circular RNAs are new players in regulation of post transcriptional gene expression. Animal
genomes express many circular RNAs from diverse genomic locations. A recent study has …

Into the wild: GWAS exploration of non-coding RNAs

H Giral, U Landmesser, A Kratzer - Frontiers in cardiovascular …, 2018 - frontiersin.org
Genome-wide association studies (GWAS) have proven a fundamental tool to identify
common variants associated to complex traits, thus contributing to unveil the genetic …

Epigenetics and obesity cardiomyopathy: from pathophysiology to prevention and management

Y Zhang, J Ren - Pharmacology & therapeutics, 2016 - Elsevier
Uncorrected obesity has been associated with cardiac hypertrophy and contractile
dysfunction. Several mechanisms for this cardiomyopathy have been identified, including …

[HTML][HTML] Genomic variations in non-coding RNAs: structure, function and regulation

D Bhartiya, V Scaria - Genomics, 2016 - Elsevier
The last decade has seen tremendous improvements in the understanding of human
variations and their association with human traits and diseases. The availability of high …

Exploring the therapeutic significance of microRNAs and lncRNAs in kidney diseases

LA Bravo-Vázquez, S Paul, MG Colín-Jurado… - Genes, 2024 - mdpi.com
MicroRNAs (miRNAs) and long non-coding RNAs (lncRNAs) are two crucial classes of
transcripts that belong to the major group of non-coding RNAs (ncRNAs). These RNA …

SNPs and somatic mutation on long non-coding RNA: new frontier in the cancer studies?

L Minotti, C Agnoletto, F Baldassari, F Corrà, S Volinia - High-throughput, 2018 - mdpi.com
In the last decade, it has been demonstrated that long non-coding RNAs (lncRNAs) are
involved in cancer development. The great majority of studies on lncRNAs report alterations …

Exploring the function of genetic variants in the non-coding genomic regions: approaches for identifying human regulatory variants affecting gene expression

MJ Li, B Yan, PC Sham, J Wang - Briefings in bioinformatics, 2015 - academic.oup.com
Understanding the genetic basis of human traits/diseases and the underlying mechanisms
of how these traits/diseases are affected by genetic variations is critical for public health …

Genetics and genomics of single-gene cardiovascular diseases: common hereditary cardiomyopathies as prototypes of single-gene disorders

AJ Marian, E van Rooij, R Roberts - Journal of the American College of …, 2016 - jacc.org
This is the first of 2 review papers on genetics and genomics appearing as part of the series
on “omics.” Genomics pertains to all components of an organism's genes, whereas genetics …