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Analysis of Mitochondrial DNA Mutations: Point Mutations
2003Since the first demonstration that mutations of the mitochondrial genome were associated with human disease, more than 100 pathological mitochondrial DNA (mtDNA) defects have been characterized in patients with a broad spectrum of clinical manifestations (1). Single-point mutations, involving either protein-encoding genes or more commonly RNA (rRNA and
Taylor RW +3 more
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Mutations and pointed Brauer trees
Osaka Journal of Mathematics, 2022zbMATH Open Web Interface contents unavailable due to conflicting licenses.
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Probes and Point Mutations on the Web
Parasitology Today, 1999Merck & Co, Inc are expanding their donation programme for ‘Mectizan’ (ivermectin, MSD) to include lymphatic filariasis in African countries. SmithKline Beecham donate albendazole to WHO for use by governments and other collaborating organizations. WHO’s target date for eliminating lymphatic filariasis as a public health problem is 2020.
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Inverse PCR for Point Mutation Introduction
2017Inverse PCR is a powerful tool for the rapid introduction of desired mutations at desired positions in a circular double-stranded DNA sequence. Here, custom-designed mutant primers oriented in the inverse direction are used to amplify the entire circular template with incorporation of the required mutation(s). By careful primer design it can be used to
Silva, Diogo +3 more
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Nature, 1967
VIRUS particles have been shown to induce chromosome breakage in mammalian tissue culture1–4. If it were a property of viruses to break chromosomes, then one would expect viruses to cause point mutation which would result from errors in the genetic code at the site where the chromosome was broken and reconstituted. With this reasoning, experiments were
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VIRUS particles have been shown to induce chromosome breakage in mammalian tissue culture1–4. If it were a property of viruses to break chromosomes, then one would expect viruses to cause point mutation which would result from errors in the genetic code at the site where the chromosome was broken and reconstituted. With this reasoning, experiments were
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Point Mutational Inactivation of the Retinoblastoma Antioncogene
Science, 1989The retinoblastoma (Rb) antioncogene encodes a nuclear phosphoprotein, p105-Rb, that forms protein complexes with the adenovirus E1A and SV40 large T oncoproteins. A novel, aberrant Rb protein detected in J82 bladder carcinoma cells was not able to form a complex with E1A and was less stable than p105-Rb. By means of a rapid method for the detection of
J M, Horowitz +8 more
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Point mutations causing the McLeod phenotype
Transfusion, 2002BACKGROUND: The McLeod phenotype is defined by absence of Kx, weakening of Kell system antigens, and acanthocytosis. Individuals with the McLeod phenotype usually develop late‐onset neuromuscular abnormalities. Gene deletions, insertions, and point mutations that affect RNA splicing or that lead to premature stop codons have been reported to cause the
David C W, Russo +3 more
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Nature Genetics, 2001
Studies of human diseases have shown that nonsense mutations can alter pre-mRNA splicing. A new study, focusing on the breast cancer susceptibility gene, BRCA1, demonstrates that one explanation lies in a disrupted exonic splicing enhancer rather than a disrupted translational reading frame.
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Studies of human diseases have shown that nonsense mutations can alter pre-mRNA splicing. A new study, focusing on the breast cancer susceptibility gene, BRCA1, demonstrates that one explanation lies in a disrupted exonic splicing enhancer rather than a disrupted translational reading frame.
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Correcting tyrosinaemia via a point mutation
Nature Biomedical Engineering, 2020In an adult mouse model of tyrosinaemia, a base editor correcting an A-to-G splice-site mutation in the Fah gene restores the translation of the functional enzyme, promoting the repopulation of the liver with the corrected cells.
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