نتایج جستجو برای: ctg repeat expansion
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We have studied the contribution of mismatch sequences to the trinucleotide repeat expansion that causes hereditary diseases. Using an oligonucleotide duplex, (CAG)5/(CTG)5, as a template-primer, DNA synthesis was carried out using either Escherichia coli DNA polymerase I (Klenow fragment) or human immunodeficiency virus type I reverse transcriptase (HIV-RT). Both enzymes expanded the repeat se...
The vast majority of Friedreich ataxia patients are homozygous for large GAA triplet repeat expansions in intron 1 of the X25 gene. Instability of the expanded GAA repeat was examined in 23 chromosomes bearing 97-1250 triplets in lymphoblastoid cell lines passaged 20-39 times. Southern analyses revealed 18 events of significant changes in length ranging from 69 to 633 triplets, wherein the de n...
We report the case of a male patient presenting in his 50s with ptosis, facial and distal limb muscle weakness, clinical electrical myotonia, prior history cataract extraction. He had dominant family keeping similar phenotype. Myotonic dystrophy type 1 was clinically suspected. Triplet-primed polymerase chain reaction diagnostic laboratory did not identify typical CTG repeat expansion on two se...
Huntington disease (HD) is caused by a CAG ⋅ CTG expansion in the huntingtin (HTT) gene. While most research has focused on the HTT polyGln-expansion protein, we demonstrate that four additional, novel, homopolymeric expansion proteins (polyAla, polySer, polyLeu, and polyCys) accumulate in HD human brains. These sense and antisense repeat-associated non-ATG (RAN) translation proteins accumulate...
Myotonic dystrophy type 1 (DM1) is caused by an unstable CTG repeat expansion in the 3'UTR of the DM protein kinase (DMPK) gene. DMPK transcripts carrying CUG expansions form nuclear foci and affect splicing regulation of various RNA transcripts. Furthermore, bidirectional transcription over the DMPK gene and non-conventional RNA translation of repeated transcripts have been described in DM1. I...
BACKGROUND Myotonic dystrophy type 1 (DM1; OMIM #160900) is an autosomal-dominant genetic disorder with multisystemic clinical features associated with a CTG expansion in the 3' untranslated region of the DMPK gene on chromosome 19q13.3. A long-PCR protocol to detect the DM1 expansion is rapid, sensitive, and accurate, but interpretative limitations can occur when the expansion size exceeds the...
huntingtons disease (hd) is an autosomal dominant inherited disease characterized by involuntary movements, behavioral and personality changes, dementia and cognitive decline. although the mean age of onset is about 40 years, it varies from 5 to 79 years. therefore, at-risk individuals are never sure to have escaped the disease. hd is a member of the growing family of neurodegenerative disorder...
Myotonic dystrophy (Dystrophia Myotonica, DM) is the most frequently inherited neuromuscular disease of adult life. It is a multisystemic disease with major cardiac involvement. Core features of myotonic dystrophy are myotonia, muscle weakness, cataract, respiratory failure and cardiac conduction abnormalities. Classical DM, first described by Steinert and called Steinert's disease or DM1 (Dyst...
Abstract Expansions of CAG/CTG trinucleotide repeats in DNA are the cause at least 17 degenerative human disorders, including Huntington’s Disease. Repeat instability is thought to occur via formation intrastrand hairpins during replication, repair, recombination, and transcription though relatively little known about their structure dynamics. We use single-molecule Förster resonance energy tra...
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