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Trinucleotide repeat disorders
2018Trinucleotide repeat disorders comprise a variable group of inherited neurodegenerative diseases, with a large range in prevalence figures. There is a broad range in clinical presentations, but many of these diseases lead to some form of ataxia or other movement disorders, which are frequently combined with cognitive or psychiatric disturbances.
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The complex pathology of trinucleotide repeats
Current Opinion in Cell Biology, 1997The expansion of trinucleotide repeat sequences has now been shown to be the underlying cause of at least ten human disorders. Unifying features among these diseases include the unstable behavior of the triplet repeat during germline transmission when the length of the repeat exceeds a critical value.
P S, Reddy, D E, Housman
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Expansion of Trinucleotide Repeats
Molecular Biology, 2001This review describes a novel type of genome instability, expansion of trinucleotide repeats. Orig- inally discovered in 1991 upon cloning the gene responsible for the fragile X syndrome, it has proved to be a general phenomenon responsible for a growing number of human neurological disorders.
E. Yu. Siyanova, S. M. Mirkin
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The Expanding World of Trinucleotide Repeats
Science, 1996A paper in this week's issue of Science (Campuzano et al. , p. 1423 ) reports that Friedreich's ataxia has now joined the list of diseases caused by expanding trinucleotide repeats. In his Perspective, S.
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Clustering Tandem Repeats via Trinucleotides
2012 IEEE 12th International Conference on Data Mining Workshops, 2012Tandem repeats in DNA sequences are extremely relevant in biological phenomena and diagnostic tools. Computational programs that discover these tandem repeats generate a huge volume of data, which is often difficult to decipher without further organization.
Yupu Liang, Dina Sokol, Sarah Zelikovitz
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Detection of Unstable Trinucleotide Repeats
2003Unstable trinucleotide repeats are a newly recognized class of disease mutation. Several major human single gene disorders are now attributed to expansions of these highly unstable sequences (1-4). Their molecular analysis is particularly challenging, since: 1. Accurate allele sizing is essential; 2. Polymerase chain reaction (PCR) amplification across
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Trinucleotide Repeat Protocols
2013Part I. Introduction Mouse Models of Triplet Repeat Diseases Gillian P. Bates and David G. Hay Part II. Analysis of Triplet Repeat DNAs and RNAs Analysis of Triplet Repeat Replication by Two-Dimensional Gel Electrophoresis Maria M. Krasilnikova and Sergei M. Mirkin Genetic Analysis for Triplet Repeat Instability in Yeast Michael J.
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Trinucleotide repeat disorders
Journal of Inherited Metabolic Disease, 1997openaire +2 more sources
Trinucleotide repeat polymorphism at D6S366
Human Molecular Genetics, 1993S W, Panzer +4 more
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