نتایج جستجو برای: structural mutation
تعداد نتایج: 669694 فیلتر نتایج به سال:
PURPOSE Although survival with a p53 missense mutation is highly variable, p53-null mutation is an independent adverse prognostic factor for advanced stage ovarian cancer. By evaluating ovarian cancer survival based upon a structure function analysis of the p53 protein, we tested the hypothesis that not all missense mutations are equivalent. EXPERIMENTAL DESIGN The p53 gene was sequenced from...
Cartilage oligomeric matrix protein (COMP) is a member of the thrombospondin family of extracellular matrix glycoproteins. All members of the family contain a highly conserved region of thrombospondin type 3 sequence repeats that bind calcium. A mutation in COMP previously identified in a patient with pseudoachondroplasia resulted in abnormal sequestration of COMP in distinctive rER vesicles. T...
Membrane protein structural biology is critically dependent upon the supply of high-quality protein. Over the last few years, the value of crystallising biochemically characterised, recombinant targets that incorporate stabilising mutations has been established. Nonetheless, obtaining sufficient yields of many recombinant membrane proteins is still a major challenge. Solutions are now emerging ...
یکی از روش های بهینه سازی سازه ها، evolutionary structural optimizaton (eso) می باشد. این روش، به منظور استفاده بهینه از مصالح، مصالح سازه را باز توزیع می کند. در این روش، حرکت تدریجی از سازه اولیه به سمت سازه بهینه صورت می گیرد و با در نظر گرفتن کلیه شرایط حاکم بر سازه از قبیل شرایط ساختگاهی، تکیه گاهی، بارگذاری و... با حذف یا انتفال تدریجی مصالح غیر لازم، شکل نهایی آن، ارایه و سازه به سمت بهت...
HE L-arabinose gene-enzyme complex, except for the unlinked L-arabinose Tpermease gene, araE, is shown in Figure 1. araB and araA are the structural genes for the L-ribulokinase and L-arabinose isomerase, respectively; while araD is probably the structural gene for ~-ribulose-5-phosphate-4-epimerase ( ENGLESBERG 1961 ; ENGLESBERG et al. 1962; LEE and ENGLESBERG 1962,1963). The ma€ gene is a reg...
The occipital lobe contains a substantial part of the neural machinery involved in visual perception. Mutations in the LAMC3 gene have recently been shown to cause complex bilateral occipital cortical gyration abnormalities. However, to what extent these structural changes impact visual behavior is not known. We recorded responses for two screening test batteries targeting visual function (Leuv...
Mutations in proteins introduce structural changes and influence biological activity: the specific effects depend on the location of the mutation. The simple method proposed in the present paper is based on a two-step model of in silico protein folding. The structure of the first intermediate is assumed to be determined solely by backbone conformation. The structure of the second one is assumed...
Small insertions and deletions (indels) and large structural variations (SVs) are major contributors to human genetic diversity and disease. However, mutation rates and characteristics of de novo indels and SVs in the general population have remained largely unexplored. We report 332 validated de novo structural changes identified in whole genomes of 250 families, including complex indels, retr...
Loss of Chloroplast trnLUAA Intron in Two Species of Hedysarum (Fabaceae): Evolutionary Implications
Previous studies have indicated that in all land plants examined to date, the chloroplast gene trnLUAA isinterrupted by a single group I intron ranging from 250 to over 1400 bp. The parasitic Epifagus virginiana haslost, however, the entire gene. We report that the intron is missing from the chloroplast genome of twoarctic species of the legume genus Hedysarum (H. alpinum, H. ...
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