Results 131 to 140 of about 10,792 (169)
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Trinucleotide repeat expansion in neurological disease
Annals of Neurology, 1994AbstractExpansion of trincleotide repeats is now recognized as a major cause of neurological disease. At least seven disorders result from trinucleotide repeat expansion: X‐linked spinal and bulbar muscular atrophy (SBMA), two fragile×syndromes of mental retardation (FRAXA and FRAXE), myotonic dystrophy, Huntington's disease, spinocerebellar ataxia ...
A R, La Spada +2 more
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The other trinucleotide repeat: polyalanine expansion disorders
Current Opinion in Genetics & Development, 2005Expansions of trinucleotide repeats encoding polyalanine tracts have been recognized as the cause of several diseases, predominantly congenital malformation syndromes. To date, nine genes with alanine tract expansions have been described. With the exception of PABPN1, which codes for a poly(A)-binding protein, all these genes encode transcription ...
Andrea, Albrecht, Stefan, Mundlos
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Trinucleotide repeat expansions and human genetic disease
BioEssays, 1994AbstractTrinucleotide repeat expansions are now a well‐established mutational mechanism in human genetic disease. An unstable CAG repeat is known to be responsible for three neurodegenerative disorders: Huntington's disease, spinal and bulbar musclar atrophy and spinocerebellar ataxia type 1.
G, Bates, H, Lehrach
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Trinucleotide repeat expansions: timing is everything
Trends in Molecular Medicine, 2003The expansion of trinucleotide repeats is known to cause a growing number of human diseases. However, the mechanism and timing of expansions are poorly understood. Recent studies indicate that expansion mutations occur by multiple pathways during both meiotic and mitotic divisions, and at various stages of cell division.
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Structural features of trinucleotide repeats associated with DNA expansion
Biochemistry and Cell Biology, 2001The mechanism of DNA expansion is not well understood. Recent evidence from genetic, in vivo, and in vitro studies has suggested a link between the formation of alternative DNA secondary structures by trinucleotide repeat tracts and their propensity to undergo expansion.
I V, Kovtun, G, Goellner, C T, McMurray
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Anticipation, imprinting, trinucleotide repeat expansions and psychoses
Progress in Neuro-Psychopharmacology and Biological Psychiatry, 20011. Since 1991, approximately 20 trinucleotide repeat expansion type neurodegenerative disorders have been reported. They are clinically characterized by anticipation, i.e., worsening severity or earlier age at onset with each succeeding generation for an inherited disease, and imprinting, i.e., a process whereby specific genes are differentially marked
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Translational Suppression by Trinucleotide Repeat Expansion at FMR1
Science, 1995Fragile X syndrome is the result of the unstable expansion of a trinucleotide repeat in the 5′-untranslated region of the FMR1 gene. Fibroblast subclones from a mildly affected patient, each containing stable FMR1 alleles with 57 to 285 CGG repeats, were shown to exhibit normal steady-state ...
Y, Feng +6 more
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Origin and Expansion of Trinucleotide Repeats and Neurological Disorders
Current Genomics, 2005Unstable expansions of trinucleotide repeats (TNRs) are associated with a growing number of neurological dis- orders (at least 14), including HD (Huntington's disease), fragile X-syndrome, MD (Myotonic dystrophy) and Freidreich's ataxia. These disorders are often characterized by a tendency of certain pathological alleles to further expand due to ...
Puneet Gandhi +5 more
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TRINUCLEOTIDE‐REPEAT EXPANSIONS AND NEURODEGENERATIVE DISEASE: A MECHANISM OF PATHOGENESIS*
Clinical and Experimental Pharmacology and Physiology, 1996SUMMARY1. Studies of a number of hereditary neurodegenerative diseases, the most common of which is Huntington's disease, have identified the expansion of trinucleotide repeats as a common causative mutation.2. The diseases are caused by expansions of CAG repeats, encoding polyglutamine tracts, within the coding regions of a variety of unrelated genes.
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Molecular diagnosis of neurogenetic disorders involving trinucleotide repeat expansions
Expert Review of Molecular Diagnostics, 2005There are more than 15 known neurogenetic disorders involving trinucleotide repeat expansion. Expanded repeats range from small expansions of 20-100 copies to larger expansions of up to several thousand units. These dynamic expansions result in variability in age of onset, degree of severity and clinical presentation.
Ene-Choo, Tan, Poh San, Lai
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