Dynamic alternative DNA structures in biology and disease

G Wang, KM Vasquez - Nature Reviews Genetics, 2023 - nature.com
Repetitive elements in the human genome, once considered 'junk DNA', are now known to
adopt more than a dozen alternative (that is, non-B) DNA structures, such as self-annealed …

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 …

Electrochemical methods for the analysis of clinically relevant biomolecules

M Labib, EH Sargent, SO Kelley - Chemical reviews, 2016 - ACS Publications
Rapid progress in identifying biomarkers that are hallmarks of disease has increased
demand for high-performance detection technologies. Implementation of electrochemical …

Repeat expansion diseases

H Paulson - Handbook of clinical neurology, 2018 - Elsevier
More than 40 diseases, most of which primarily affect the nervous system, are caused by
expansions of simple sequence repeats dispersed throughout the human genome …

[HTML][HTML] On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability

AN Khristich, SM Mirkin - Journal of Biological Chemistry, 2020 - Elsevier
Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

Genetic testing in neurodevelopmental disorders

JM Savatt, SM Myers - Frontiers in pediatrics, 2021 - frontiersin.org
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

Chromosomal fragile site breakage by EBV-encoded EBNA1 at clustered repeats

JSZ Li, A Abbasi, DH Kim, SM Lippman, LB Alexandrov… - Nature, 2023 - nature.com
Epstein–Barr virus (EBV) is an oncogenic herpesvirus associated with several cancers of
lymphocytic and epithelial origin,–. EBV encodes EBNA1, which binds to a cluster of 20 …

[HTML][HTML] Targeted long-read sequencing identifies missing disease-causing variation

DE Miller, A Sulovari, T Wang, H Loucks… - The American Journal of …, 2021 - cell.com
Despite widespread clinical genetic testing, many individuals with suspected genetic
conditions lack a precise diagnosis, limiting their opportunity to take advantage of state-of …

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities

HY Zoghbi, MF Bear - Cold Spring Harbor perspectives …, 2012 - cshperspectives.cshlp.org
The discovery of the genetic causes of syndromic autism spectrum disorders and intellectual
disabilities has greatly informed our understanding of the molecular pathways critical for …

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

ME MacDonald, CM Ambrose, MP Duyao, RH Myers… - Cell, 1993 - cell.com
The Huntington's disease (HD) gene has been mapped in 4p16. 3 but has eluded
identification. We have used haplotype analysis of linkage disequilibrium to spotlight a small …