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Trinucleotide repeats and genome variation
Current Opinion in Genetics & Development, 1993The recent cloning of several disease genes has identified the instability of trinucleotide repeats as a fundamental mechanism for variation within the human genome. This mutation mechanism explains the unique inheritance characteristics of the diseases it causes, and there is a significant potential that this mechanism is involved in the pathogenesis ...
D P, Kuhl, C T, Caskey
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Trinucleotide Repeats in Neurogenetic Disorders
Annual Review of Neuroscience, 1996Trinucleotide repeat expansion is increasingly recognized as a cause of neurogenetic diseases. To date, seven diseases have been identified as expanded repeat disorders: the fragile X syndrome of mental retardation (both FRAXA and FRAXE loci), myotonic dystrophy, X-linked spinal and bulbar muscular atrophy, Huntington’s disease, spinocerebellar ataxia
H L, Paulson, K H, Fischbeck
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Trinucleotide repeat disorders in pediatrics
The Journal of Pediatrics, 1995The relationship between the expansion of trinucleotide repeat sequences and human disease hs been the subject of a significant volume of study since the identification of a CGG repeat sequence in the mutated gene responsible for the fragile X syndrome.
D M, O'Donnell, H Y, Zoghbi
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Trinucleotide Repeat Expansion and Neuropsychiatric Disease
Archives of General Psychiatry, 1999Trinucleotide, or triplet, repeats consist of 3 nucleotides consecutively repeated (e.g., CCG CCG CCG CCG CCG) within a region of DNA, a not uncommon motif in the genome of humans and other species. In 1991, a new type of genetic mutation was discovered, known as a dynamic or expansion mutation, in which the number of triplets in a repeat increases and
R L, Margolis +3 more
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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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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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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 disorders
Journal of Inherited Metabolic Disease, 1997openaire +2 more sources