Simple tandem DNA repeats and human genetic disease.
GR Sutherland, RI Richards - Proceedings of the National …, 1995 - National Acad Sciences
… Genetics, Women's and Children's Hospital, Adelaide 5006 Australia ABSTRACT The human
genome contains many repeated DNA … unit from a single nucleotide to a whole gene. The …
genome contains many repeated DNA … unit from a single nucleotide to a whole gene. The …
The biological effects of simple tandem repeats: lessons from the repeat expansion diseases
K Usdin - Genome research, 2008 - genome.cshlp.org
… human genetic disorder that lends support to the generality of tandem repeat-mediated
epigenetic changes in humans. … of the subtelomeric D4Z4 repeat array on chromosome 4. This …
epigenetic changes in humans. … of the subtelomeric D4Z4 repeat array on chromosome 4. This …
DNA repeat expansions and human disease
K Usdin*, E Grabczyk - Cellular and Molecular Life Sciences CMLS, 2000 - Springer
… The repeat expansion diseases are a group of genetic disorders that … diseases can involve
a larger repeat unit [4]. Moreover, unstable tandem arrays with a wide range of repeat unit …
a larger repeat unit [4]. Moreover, unstable tandem arrays with a wide range of repeat unit …
Genome (in) stability at tandem repeats
E Balzano, F Pelliccia, S Giunta - Seminars in cell & developmental biology, 2021 - Elsevier
… and neuromuscular disorders, as well as complex genetic diseases like cancer and diabetes…
pathological correlation between TRs instability and human diseases. Finally, we provide a …
pathological correlation between TRs instability and human diseases. Finally, we provide a …
Tandem repeats mediating genetic plasticity in health and disease
AJ Hannan - Nature Reviews Genetics, 2018 - nature.com
… tandem repeat biology, with a focus on the repeat-associated genetics and pathogenesis of
a range of human disorders. … disease-associated mutations involving repeat instability in the …
a range of human disorders. … disease-associated mutations involving repeat instability in the …
DNA repeats in the human genome
… centromere extends over several mega bases and contains both tandem repeats and
unique DNA sequences. Several centromere binding proteins (CENP-A through F) have been …
unique DNA sequences. Several centromere binding proteins (CENP-A through F) have been …
Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads
… Our method is robust to systematic sequencing errors, inexact repeats with … tandem repeats
in whole genome sequencing data. This may help to elucidate the many genetic diseases …
in whole genome sequencing data. This may help to elucidate the many genetic diseases …
Tandem repeats finder: a program to analyze DNA sequences
G Benson - Nucleic acids research, 1999 - academic.oup.com
… we model tandem repeats by percent identity and … tandem repeats that have undergone
extensive mutational change by analyzing four sequences: the human frataxin gene, the human …
extensive mutational change by analyzing four sequences: the human frataxin gene, the human …
[PDF][PDF] Tandem repeats in human disorders: mechanisms and evolution
… role that such repeat elements play in gene function, elongation/… gene function which
eventually could lead to a disorder (Figure 1). At least 10 genetic disorders are known in humans in …
eventually could lead to a disorder (Figure 1). At least 10 genetic disorders are known in humans in …
TRbase: a database relating tandem repeats to disease genes for the human genome
T Boby, AM Patch, SJ Aves - Bioinformatics, 2005 - academic.oup.com
… information was downloaded from the Online Mendelian Inheritance in Man (OMIM)
database, which provides bibliographic, sequence and map information on genetic disorders, …
database, which provides bibliographic, sequence and map information on genetic disorders, …
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