Biophysical Characterization of Naturally Occurring Titin-M10 Mutations
نویسندگان
چکیده
منابع مشابه
Structural Biology, Biochemistry, and Biophysics BIOPHYSICAL CHARACTERIZATION OF NATURALLY OCCURING TITIN
SIMULATING DEPENDENT BINARY DATA WITH RANDOM EFFECTS. Aobo Wang, Roy T. Sabo, Department of Biostatistics, Virginia Commonwealth University, Richmond, Virginia 23298-0032. Dependent binary data can be simply simulated using the multinomial sampling method. We extend this method to simulate dependent binary data with clustered random effect structures. Several distributions are considered for co...
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Single-point mutation in genome, for example, single-nucleotide polymorphism (SNP) or rare genetic mutation, is the change of a single nucleotide for another in the genome sequence. Some of them will produce an amino acid substitution in the corresponding protein sequence (missense mutations); others will not. This paper focuses on genetic mutations resulting in a change in the amino acid seque...
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Although tetraloops are one of the most frequently occurring secondary structure motifs in RNA, less than one-third of the 30 most frequently occurring RNA tetraloops have been thermodynamically characterized. Therefore, 24 stem-loop sequences containing common tetraloops were optically melted, and the thermodynamic parameters DeltaH degrees , DeltaS degrees , DeltaG degrees (37,) and T(M) for ...
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Individuals with hepatic lipase (HL) deficiency are often characterized by elevated levels of triglycerides and cholesterol and may be subject to premature atherosclerosis. Missense mutations in the HL gene have been identified in two affected families: substitutions of serine for phenylalanine at amino acid 267 and threonine for methionine at amino acid 383 (S267F and T383M, respectively). To ...
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OBJECTIVE The renal form of pseudohypoaldosteronism type 1 (PHA1) is a rare disease caused by mutations in the human mineralocorticoid receptor gene (NR3C2). DESIGN Aim of the study was to analyze the NR3C2 gene in three Italian patients with clinical signs of renal PHA1 and to evaluate the distribution of the -2G > C, c.538A > G, and c.722C > T single nucleotide polymorphism (SNP) pattern in...
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ژورنال
عنوان ژورنال: Biophysical Journal
سال: 2015
ISSN: 0006-3495
DOI: 10.1016/j.bpj.2014.11.2066