Results 141 to 150 of about 10,792 (169)
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A cloning strategy for identification of genes containing trinucleotide repeat expansions
International Journal of Molecular Medicine, 2001Until today, nineteen trinucleotide repeat expansions larger than forty repeat copies have been found in the human genome. Of these, the CAG/CTG repeat is predominant motif with twelve loci identified, ten of which have been associated with the development of neurodegenerative diseases.
Q P, Yuan +5 more
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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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Detection and Isolation of Trinucleotide Repeat Expansions Using the RED Method
2004To facilitate identification of disease genes containing an expanded trinucleotide repeat, a repeat expansion detection (RED) and gene cloning system was established. The RED method was developed to enable detection of expanded trinucleotide repeat sequences in any DNA sample from any species without prior knowledge of the DNA sequences flanking the ...
Qiu-Ping, Yuan, Martin, Schalling
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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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TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy
Acta Ophthalmologica, 2022Irina Golovleva, Berit Bystrom
exaly
Trinucleotide repeat expansion mutation and preeclampsia
Biochemical Society Transactions, 2000K. A. Freed +3 more
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