Results 161 to 170 of about 17,057 (211)
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Trinucleotide repeats in yeast
Research in Microbiology, 1997The yeast genome exhibits a variety of trinucleotide repeat arrays within protein-coding genes and intergenic regions. In the first situation, repeats are often not random relative to the translational frame, resulting preferably in long stretches of the two acidic amino acids or of their corresponding amine forms.
Bernard Dujon, Guy-Franck Richard
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The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy
Brain, 2004 Expanded trinucleotide repeats are associated with several neuropsychiatric disorders, including fragile X syndrome (FraX) which is the most common inherited form of mental retardation.
Eileen Daly +2 more
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Spt4 Is Selectively Required for Transcription of Extended Trinucleotide Repeats
Cell, 2012 SummaryLengthy trinucleotide repeats encoding polyglutamine (polyQ) stretches characterize the variant proteins of Huntington's disease and certain other inherited neurological disorders.
Chia-Rung Liu +2 more
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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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DNA Repair, 2016 International audienceTrinucleotide repeat expansions are responsible for at least two dozen neurological disorders. Mechanisms leading to these large expansions of repeated DNA are still poorly understood.
David Viterbo +2 more
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Trinucleotide Repeats: Mechanisms and Pathophysiology
Annual Review of Genomics and Human Genetics, 2000Within 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 mutational mechanism as the basis of an expanding class of diseases.
C J, Cummings, H Y, Zoghbi
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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 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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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 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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