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A CAG trinucleotide repeat expansion and familial schizophrenia
Psychiatry Research, 2000Studies which showed anticipation in families with schizophrenia suggested that a trinucleotide repeat expansion mechanism may be involved in the pathogenesis of familial schizophrenia. Furthermore, some studies involving the repeat expansion detection (RED) method showed the median length of CAG repeats to be longer in probands with schizophrenia than
K, Ohara1 +5 more
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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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GAA trinucleotide repeat expansion in variant Friedreich's ataxia families
Muscle & Nerve, 1997Phenotypic variants in Friedreich's ataxia include late onset, preservation of the lower limbs tendon reflexes, and slow progression. We describe clinical and electrophysiological features from three families with Friedreichlike phenotypes. Friedreich's ataxia diagnosis was confirmed by finding two allelic expansions of the GAA trinucleotide repeat at ...
A, Cruz-Martínez, B, Anciones, F, Palau
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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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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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Slipping while sleeping? Trinucleotide repeat expansions in germ cells
Trends in Molecular Medicine, 2003Trinucleotide expansions cause at least 30 diseases including Huntington's disease (HD). Many are inherited predominantly through paternal transmissions, which are probably the result of germ-cell-specific mutations. A recent study of testicular germ cells in HD patients revealed that expansions occur in diploid cells before the completion of meiosis ...
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Diagnosis of Spinocerebellar Ataxias Caused by Trinucleotide Repeat Expansions
Current Protocols in Human Genetics, 2017AbstractSpinocerebellar ataxias (SCAs) are a group of disorders that are both clinically and genetically heterogeneous. They usually demonstrate onset in adulthood, but some forms may have juvenile or infantile onset. There are many different types of SCA, demonstrating different modes of inheritance and types of mutation. The most common forms are due
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Acta Biologica Brasiliensia
Trinucleotide repeat (TNR) expansions are increases in the number of repeated trinucleotides in the genome. TNR expansions have been confirmed as the molecular etiology of various neurodegenerative disorders, such as Huntington's Disease, Fragile X Syndrome, and Friedreich's Ataxia.
Andre Pedrosa +1 more
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Trinucleotide repeat (TNR) expansions are increases in the number of repeated trinucleotides in the genome. TNR expansions have been confirmed as the molecular etiology of various neurodegenerative disorders, such as Huntington's Disease, Fragile X Syndrome, and Friedreich's Ataxia.
Andre Pedrosa +1 more
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