Whilst DNA repeat expansions cause numerous heritable human disorders, their origins and underlying pathological mechanisms are often unclear. We collated a dataset comprising 224 human repeat expansions encompassing 203 different genes, and performed a systematic analysis with respect to key topological features at the DNA, RNA and protein levels. Comparison with controls without known pathogenicity and genomic regions lacking repeats, allowed the construction of the first tool to discriminate repeat regions harboring pathogenic repeat expansions (DPREx). At the DNA level, pathogenic repeat expansions exhibited stronger signals for DNA regulatory factors (e.g. H3K4me3, transcription factor-binding sites) in exons, promoters, 5′UTRs and 5′g...
Intrinsically disordered proteins and proteins with intrinsically disordered regions have been shown...
Repeat-induced gene silencing (RIGS) establishes the centromere structure, prevents the spread of tr...
Plus de 50 maladies génétiques sont dues à des expansions de répétitions de nucléotides. Ma thèse a ...
Whilst DNA repeat expansions cause numerous heritable human disorders, their origins and underlying ...
Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of...
More than 30 human genetic diseases are linked to tri-nucleotide repeat expansions. There is no know...
Among the goals of RNA structural and functional genomics is determining structures and establish-in...
Tandem repeats are short DNA sequences that are repeated head-to-tail. Such repeats occur in great n...
Abstract Background Repetitive DNA sequences (Repeats) are significant regions in the human genome t...
<p>Disease-associated repeat sequence can include microsatellites (1–4 bp unit), minisatellites (6–6...
One of the most compelling reasons for the study of repetitive DNA sequence in the human genome has ...
Abstract Tandemly repeated DNA is highly mutable and causes at least 31 diseases, but it is hard to ...
Motivation: Simple sequence repeats (SSRs) or microsatellite repeats are found abundantly in many pr...
Short tandem repeats (STRs) are units of 1–6 base pairs that occur in tandem repetition to form a re...
Friedreich ataxia and fragile X syndrome are among 40 human diseases associated with expansion of ...
Intrinsically disordered proteins and proteins with intrinsically disordered regions have been shown...
Repeat-induced gene silencing (RIGS) establishes the centromere structure, prevents the spread of tr...
Plus de 50 maladies génétiques sont dues à des expansions de répétitions de nucléotides. Ma thèse a ...
Whilst DNA repeat expansions cause numerous heritable human disorders, their origins and underlying ...
Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of...
More than 30 human genetic diseases are linked to tri-nucleotide repeat expansions. There is no know...
Among the goals of RNA structural and functional genomics is determining structures and establish-in...
Tandem repeats are short DNA sequences that are repeated head-to-tail. Such repeats occur in great n...
Abstract Background Repetitive DNA sequences (Repeats) are significant regions in the human genome t...
<p>Disease-associated repeat sequence can include microsatellites (1–4 bp unit), minisatellites (6–6...
One of the most compelling reasons for the study of repetitive DNA sequence in the human genome has ...
Abstract Tandemly repeated DNA is highly mutable and causes at least 31 diseases, but it is hard to ...
Motivation: Simple sequence repeats (SSRs) or microsatellite repeats are found abundantly in many pr...
Short tandem repeats (STRs) are units of 1–6 base pairs that occur in tandem repetition to form a re...
Friedreich ataxia and fragile X syndrome are among 40 human diseases associated with expansion of ...
Intrinsically disordered proteins and proteins with intrinsically disordered regions have been shown...
Repeat-induced gene silencing (RIGS) establishes the centromere structure, prevents the spread of tr...
Plus de 50 maladies génétiques sont dues à des expansions de répétitions de nucléotides. Ma thèse a ...