Results 221 to 230 of about 585,191 (278)

Trinucleotide repeats and haplotypes at the huntingtin locus in an Indian sample overlaps with European haplogroup a.

open access: yesPLoS Curr, 2014
Moily NS   +8 more
europepmc   +1 more source

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   +3 more sources

Trinucleotide Repeat Disorders

Seminars in Pediatric Neurology, 2007
DNA trinucleotide repeat expansion diseases represent an interesting group of disorders that include a common cause of mental retardation and autism as well as neurodegenerative and other diseases. Many of these disorders have expression in the pediatric age group.
Harry T, Orr, Huda Y, Zoghbi
  +6 more sources

Human genes containing polymorphic trinucleotide repeats

Nature Genetics, 1992
Expansions of trinucleotide repeats within gene transcripts are responsible for fragile X syndrome, myotonic dystrophy and spinal and bulbar muscular atrophy. To identify other human genes with similar features as candidates for triplet repeat expansion mutations, we screened human cDNA libraries with repeat probes and searched databases for ...
G J, Riggins   +6 more
openaire   +3 more sources

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.
G F, Richard, B, Dujon
openaire   +2 more sources

Trinucleotide repeat disorders

2018
Trinucleotide repeat disorders comprise a variable group of inherited neurodegenerative diseases, with a large range in prevalence figures. There is a broad range in clinical presentations, but many of these diseases lead to some form of ataxia or other movement disorders, which are frequently combined with cognitive or psychiatric disturbances.
openaire   +3 more sources

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