Results 301 to 310 of about 14,999,742 (341)
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Common Conformational Effects of p53 Mutations

Journal of Protein Chemistry, 2001
The tumor suppressor gene p53 has been identified as the most frequent target of genetic alterations in human cancers. Most of these mutations occur in highly conserved regions in the DNA-binding core domain of the p53 protein, suggesting that the amino acid residues in these regions are critical for maintaining normal p53 structure and function.
J M, Chen   +4 more
openaire   +2 more sources

Mutational Effects on Inclusion Body Formation

1997
Publisher Summary Inclusion body formation has been studied most extensively in Escherichia coli ( E. coli) and Salmonella typhimurium , but the phenomenon is not isolated to prokaryotes. Inclusion bodies have been detected in eukaryotic cells, for example, in diseased human hepatocytes and inside algal chloroplasts.
S, Betts, C, Haase-Pettingell, J, King
openaire   +2 more sources

Tau gene mutations and their effects

Movement Disorders, 2005
Tau is the major component of the intracellular filamentous deposits that define a number of neurodegenerative diseases, including the largely sporadic Alzheimer's disease, progressive supranuclear palsy, corticobasal degeneration, Pick's disease, and argyrophilic grain disease, as well as the inherited frontotemporal dementia and parkinsonism linked ...
openaire   +2 more sources

Genetic Screens for Maternal-Effect Mutations

2004
Publisher Summary This chapter describes approaches and methodologies to carry out genetic screens for maternal-effect mutations. Two approaches have been used to identify de novo recessive maternal-effect mutations in zebrafish: (1) an F4 screen based solely on natural crosses and (2) an F3 screen based on gynogenesis, specifically the technique ...
Francisco, Pelegri, Mary C, Mullins
openaire   +2 more sources

Context-Dependent Mutation Effects in Proteins

2018
Defining the extent of epistasis-the nonindependence of the effects of mutations-is essential for understanding the relationship of genotype, phenotype, and fitness in biological systems. The applications cover many areas of biological research, including biochemistry, genomics, protein and systems engineering, medicine, and evolutionary biology ...
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The scid Mutation: Occurrence and Effect

1989
The congenital syndrome known as severe combined immune deficiency (SCID) is characterized by a loss of both B and T cell immunity. It was first recognized in human infants (Glanzmann and Riniker 1950; Tobler et al. 1958; Hitzig et al. 1958) and later in Arabian foals (McGuire et al. 1975).
openaire   +2 more sources

Lifespan effects of mitochondrial mutations

Nature, 2016
Misa, Hirose   +10 more
openaire   +2 more sources

Quantum study of mutational effect in binding of efavirenz to HIV‐1 RT

Proteins: Structure, Function, and Bioinformatics, 2005
Y. Mei   +4 more
semanticscholar   +1 more source

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