The biological effects of simple tandem repeats: lessons from the repeat expansion diseases
K Usdin - Genome research, 2008 - genome.cshlp.org
Tandem repeats are common features of both prokaryote and eukaryote genomes, where
they can be found not only in intergenic regions but also in both the noncoding and coding …
they can be found not only in intergenic regions but also in both the noncoding and coding …
Tandem repeats mediating genetic plasticity in health and disease
AJ Hannan - Nature Reviews Genetics, 2018 - nature.com
Accumulating evidence suggests that many classes of DNA repeats exhibit attributes that
distinguish them from other genetic variants, including the fact that they are more liable to …
distinguish them from other genetic variants, including the fact that they are more liable to …
On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability
AN Khristich, SM Mirkin - Journal of Biological Chemistry, 2020 - ASBMB
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 …
Trinucleotide repeats: mechanisms and pathophysiology
CJ Cummings, HY Zoghbi - Annual review of genomics and …, 2000 - annualreviews.org
Within the closing decade of the twentieth century, 14 neurological disorders were shown to
result from the expansion of unstable trinucleotide repeats, establishing this once unique …
result from the expansion of unstable trinucleotide repeats, establishing this once unique …
Fourteen and counting: unraveling trinucleotide repeat diseases
CJ Cummings, HY Zoghbi - Human molecular genetics, 2000 - academic.oup.com
The pathological expansion of unstable trinucleotide repeats currently is known to cause 14
neurological diseases. Over the past several years, researchers have concentrated on the …
neurological diseases. Over the past several years, researchers have concentrated on the …
Native functions of short tandem repeats
SE Wright, PK Todd - Elife, 2023 - elifesciences.org
Over a third of the human genome is comprised of repetitive sequences, including more than
a million short tandem repeats (STRs). While studies of the pathologic consequences of …
a million short tandem repeats (STRs). While studies of the pathologic consequences of …
DNA repeat expansions and human disease
K Usdin*, E Grabczyk - Cellular and Molecular Life Sciences CMLS, 2000 - Springer
The repeat expansion diseases are genetic disorders caused by intergenerational
expansions of a specific tandem DNA repeat. These disorders range from mildly to severely …
expansions of a specific tandem DNA repeat. These disorders range from mildly to severely …
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 …
which are polymorphic by nature and become highly unstable in a length-dependent …
Biological implications of the DNA structures associated with disease-causing triplet repeats
RR Sinden - The American Journal of Human Genetics, 1999 - cell.com
Within the last 6–8 years, the remarkable revelation that many neurodegenerative diseases
are caused by the expansion of triplet repeats has prompted a great deal of research …
are caused by the expansion of triplet repeats has prompted a great deal of research …
[引用][C] Simple repeat DNA is not replicated simply
RI Richards, GR Sutherland - Nature Genetics, 1994 - nature.com
Repeat sequences in complex genomes have had a checkered history. Before the
introduction of recombinant DNA technology they were one of the few accessible and …
introduction of recombinant DNA technology they were one of the few accessible and …