Molecular mechanisms underlying nucleotide repeat expansion disorders

I Malik, CP Kelley, ET Wang, PK Todd - Nature reviews Molecular cell …, 2021 - nature.com
The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

C Depienne, JL Mandel - The American Journal of Human Genetics, 2021 - cell.com
Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

Protein-coding repeat polymorphisms strongly shape diverse human phenotypes

RE Mukamel, RE Handsaker, MA Sherman, AR Barton… - Science, 2021 - science.org
Many human proteins contain domains that vary in size or copy number because of variable
numbers of tandem repeats (VNTRs) in protein-coding exons. However, the relationships of …

[HTML][HTML] Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer

RE Mukamel, RE Handsaker, MA Sherman, AR Barton… - Cell, 2023 - cell.com
Many regions in the human genome vary in length among individuals due to variable
numbers of tandem repeats (VNTRs). To assess the phenotypic impact of VNTRs genome …

Update on genetics of amyotrophic lateral sclerosis

D Brenner, A Freischmidt - Current Opinion in Neurology, 2022 - journals.lww.com
The genetic and molecular basis of ALS is increasingly examined on single-cell resolution.
In the past 2 years, the understanding of the downstream mechanisms of several ALS genes …

Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences

T Gall-Duncan, N Sato, RKC Yuen… - Genome …, 2022 - genome.cshlp.org
Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …

Multiomic characterization of RNA microenvironments by oligonucleotide-mediated proximity-interactome mapping

AF Tsue, EE Kania, DQ Lei, R Fields, CD McGann… - Nature …, 2024 - nature.com
RNA molecules form complex networks of molecular interactions that are central to their
function and to cellular architecture. But these interaction networks are difficult to probe in …

Recent progress of the genetics of amyotrophic lateral sclerosis and challenges of gene therapy

H Wang, LP Guan, M Deng - Frontiers in neuroscience, 2023 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the
degeneration of motor neurons in the brain and spinal cord. The causes of ALS are not fully …

De novo mutations, genetic mosaicism and human disease

M Mohiuddin, RF Kooy, CE Pearson - Frontiers in genetics, 2022 - frontiersin.org
Mosaicism—the existence of genetically distinct populations of cells in a particular organism—
is an important cause of genetic disease. Mosaicism can appear as de novo DNA mutations …

[HTML][HTML] 3D genome, on repeat: Higher-order folding principles of the heterochromatinized repetitive genome

SA Haws, Z Simandi, RJ Barnett, JE Phillips-Cremins - Cell, 2022 - cell.com
Nearly half of the human genome is comprised of diverse repetitive sequences ranging from
satellite repeats to retrotransposable elements. Such sequences are susceptible to stepwise …