Results 81 to 90 of about 507 (138)

Stick-slip unfolding favors self-association of expanded HTT mRNA

Nature Communications
In Huntington’s Disease (HD) and related disorders, expansion of CAG trinucleotide repeats produces a toxic gain of function in affected neurons.
Brett M. O’Brien, Roumita Moulick, Gabriel Jiménez-Avalos, Nandakumar Rajasekaran, Christian M. Kaiser, Sarah A. Woodson   +5 more
doaj   +1 more source

CGG, CAG, and GAA: Genome-wide comparison of the disease linked trinucleotide short tandem repeats

BMC Genomics
Short tandem repeats (STRs) are tracts of 1–6 bp DNA motifs repeated in a head-to-tail fashion, collectively accounting for approximately 3% of the human genome.
Dale J. Annear, Geert Vandeweyer, R. Frank Kooy   +2 more
doaj   +1 more source

Trinucleotide Repeats [PDF]

, 2020
openaire   +1 more source

Trinucleotide repeat [PDF]

, 2019
openaire   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Trinucleotide repeats in yeast

Research in Microbiology, 1997
The 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
exaly   +3 more sources

Trinucleotide Repeat Disorders

Annual Review of Neuroscience, 2007
The discovery that expansion of unstable repeats can cause a variety of neurological disorders has changed the landscape of disease-oriented research for several forms of mental retardation, Huntington disease, inherited ataxias, and muscular dystrophy.
Harry T, Orr, Huda Y, Zoghbi
  +6 more sources

Trinucleotide Repeats: Mechanisms and Pathophysiology

Annual Review of Genomics and Human Genetics, 2000
Within 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
openaire   +2 more sources

Trinucleotide repeat disorders in pediatrics

The Journal of Pediatrics, 1995
The 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
openaire   +2 more sources

Trinucleotide Repeats in Neurogenetic Disorders

Annual Review of Neuroscience, 1996
Trinucleotide 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
openaire   +2 more sources

Trinucleotide repeats and genome variation

Current Opinion in Genetics & Development, 1993
The 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
openaire   +2 more sources