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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 …
adopt more than a dozen alternative (that is, non-B) DNA structures, such as self-annealed …
Molecular mechanisms underlying nucleotide repeat expansion disorders
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 …
of these repeat tracts underlies over fifty human disorders, including common genetic …
Electrochemical methods for the analysis of clinically relevant biomolecules
Rapid progress in identifying biomarkers that are hallmarks of disease has increased
demand for high-performance detection technologies. Implementation of electrochemical …
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 …
expansions of simple sequence repeats dispersed throughout the human genome …
[HTML][HTML] On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability
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 …
majority of which are severe, degenerative, and not currently treatable or preventable. In this …
Genetic testing in neurodevelopmental disorders
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
Chromosomal fragile site breakage by EBV-encoded EBNA1 at clustered repeats
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 …
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
Despite widespread clinical genetic testing, many individuals with suspected genetic
conditions lack a precise diagnosis, limiting their opportunity to take advantage of state-of …
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
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 …
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
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 …
identification. We have used haplotype analysis of linkage disequilibrium to spotlight a small …