Results 211 to 220 of about 665,827 (257)

Analysis of Mitochondrial DNA Mutations: Point Mutations

2003
Since 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, Andrews RM, Chinnery PF, Turnbull DM   +3 more
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Point Mutation

2012
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Virus Induced Point Mutation

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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Inverse PCR for Point Mutation Introduction

2017
Inverse 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, Santos, Gustavo, Barroca, Mário Jorge Faria, Collins, Tony   +3 more
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Point mutations causing the McLeod phenotype

Transfusion, 2002
BACKGROUND: 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, Soohee, Lee, Marion E, Reid, Colvin M, Redman   +3 more
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Correcting tyrosinaemia via a point mutation

Nature Biomedical Engineering, 2020
In 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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Singling-out point mutations

Drug Discovery Today, 2005
LigAmp is a new technique for identifying point mutations in DNA and could be a new tool for diagnosing and managing diseases.
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Point‐mutation research: Relevance for humans

Journal of Toxicology and Environmental Health, 1977
The host‐mediated assay and Salmonella/microsome test are reviewed and critically evaluated. Their methodological problems and relevance for humans are considered.
B A, Herbold, G, Röhrborn, W, Buselmaier   +2 more
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Evolving beyond point mutations

Trends in Ecology & Evolution, 2002
Genomic structure and content are remarkably labile over evolutionary time. Yet we know little about the relative importance of genomic changes versus point mutations in adaptive evolution. Using microarray technology, a new paper [1xGenetic architecture of thermal adaptation in Escherichia coli. Riehle, M.M. et al. Proc. Natl. Acad. Sci. U. S. A. 2001;
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KDM6A Point Mutations Cause Kabuki Syndrome

Human Mutation, 2012
Kabuki syndrome (KS) is a rare congenital anomaly syndrome characterized by a unique facial appearance, growth retardation, skeletal abnormalities, and intellectual disability. In 2010, MLL2 was identified as a causative gene. On the basis of published reports, 55-80% of KS cases can be explained by MLL2 abnormalities.
Noriko, Miyake, Seiji, Mizuno, Nobuhiko, Okamoto, Hirofumi, Ohashi, Masaaki, Shiina, Kazuhiro, Ogata, Yoshinori, Tsurusaki, Mitsuko, Nakashima, Hirotomo, Saitsu, Norio, Niikawa, Naomichi, Matsumoto   +10 more
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