Results 191 to 200 of about 19,593 (221)

Quantification of disease-associated RNA tandem repeats by nanopore sensing

Patiño-Guillén G, Pešović J, Panić M, Earle M, Ninković A, Petruşca S, Savić-Pavićević D, Keyser U, Bošković F.   +8 more
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Trinucleotide repeat expansion and human disease

ELECTROPHORESIS, 1995
AbstractTrinucleotide repeat expansions have been identified as the underlying mutation in an increasing number of human genetic diseases, such as fragile site syndromes, myotonic dystrophy and several neurodegenerative disorders including Huntington's disease.
H, Hummerich, H, Lehrach
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Expansion of Trinucleotide Repeats

Molecular Biology, 2001
This 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 Expansion and Neuropsychiatric Disease

Archives of General Psychiatry, 1999
Trinucleotide, 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, M G, McInnis, A, Rosenblatt, C A, Ross   +3 more
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Trinucleotide repeat expansions in neurological disease

Current Opinion in Neurobiology, 1993
During the past year, new examples of human neurological disease have been discovered that have an unprecedented type of mutation as their cause: the remarkable expansion of trinucleotide repeats. These triplet repeats are normally polymorphic and exonic, though not always coding.
S T, Warren, D L, Nelson
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Trinucleotide repeat expansion in neurological disease

Annals of Neurology, 1994
AbstractExpansion 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, H L, Paulson, K H, Fischbeck   +2 more
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The other trinucleotide repeat: polyalanine expansion disorders

Current Opinion in Genetics & Development, 2005
Expansions 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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Myotonic dystrophy with no trinucleotide repeat expansion

Annals of Neurology, 1994
AbstractWe report 3 patients from 2 families with myotonic dystrophy who do not show an abnormal expansion of CTG trinucleotide repeats within the myotonic dystrophy gene. Characteristic features of myotonic dystrophy in these patients were frontal balding, cataracts, cardiac conduction abnormalities, and testicular atrophy with myotonia and muscle ...
C A, Thornton, R C, Griggs, R T, Moxley
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Trinucleotide repeat expansions and human genetic disease

BioEssays, 1994
AbstractTrinucleotide 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, 2003
The 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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