Results 301 to 310 of about 1,268,660 (340)
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Point‐mutation research: Relevance for humans
Journal of Toxicology and Environmental Health, 1977The host‐mediated assay and Salmonella/microsome test are reviewed and critically evaluated. Their methodological problems and relevance for humans are considered.
B A, Herbold +2 more
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Evolving beyond point mutations
Trends in Ecology & Evolution, 2002Genomic 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, 2012Kabuki 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 +10 more
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Point mutations and human hemoglobin variants
Human Genetics, 1969More than one hundred hemoglobin variants with single amino acid substitutions give information about point mutations in the DNA structure of the hemoglobin cistrons.
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1994
In 1968 the journal Nature published a brief article written by the Japanese geneticist Kimura with the title “Evolutionary Rate at the Molecular Level” [6.1]. Kimura laid the foundations of neutral theory, one of the most important theories in modern evolutionary biology.
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In 1968 the journal Nature published a brief article written by the Japanese geneticist Kimura with the title “Evolutionary Rate at the Molecular Level” [6.1]. Kimura laid the foundations of neutral theory, one of the most important theories in modern evolutionary biology.
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Mutation-prone points in thrombin receptor
Journal of Thrombosis and Thrombolysis, 2007Thrombin receptor (TR) is a G-protein-coupled receptor that transmits cellular responses to coagulant proteases in a variety of cell types in the vasculature and other tissues. Mutation within TR can be seen. Presently, the prediction of protein nanostructure and function is a great challenge in the proteomics and structural genomics era.To identify ...
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1984
Subdivision of mutations into chromosome and genome mutations, on the one hand, and gene or point mutations, on the other, goes back to a time when the microscope was the only technical means for visualizing genetic changes directly and the genetic code was still unknown.
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Subdivision of mutations into chromosome and genome mutations, on the one hand, and gene or point mutations, on the other, goes back to a time when the microscope was the only technical means for visualizing genetic changes directly and the genetic code was still unknown.
openaire +1 more source