The Impact of Mutation

Advanced NMR techniques have resulted in the elucidation of novel lignin structures, involving, for example, the benzodioxan structure involving [3-0-4 and a-O-5 linkages between two monolignol residues (1.89 Ralph et al., 2001 Marita et al., 2003). In addition, NMR has been used to determine the impact of mutations and introduction of transgenic constructs on lignin subunit composition (Ralph et al., 1997 Marita et al., 1999 Marita et al., 2003). 

But estimation of human mutation rates is only half the problem. It is also necessary to assess the impact of mutation on human welfare.319... 

First The impact of mutation on human health and welfare is enormously diverse—as diverse as the range of genetically influenced traits. The effects are spread over many generations with no certainty about when a particular trait will be expressed. Ihe Committee knows of no reliable way to estimate the total genetic impact of an increased mutation rate. We have to be content with estimating the earlier and more tangible part of the effect, that caused by dominant gene mutations and chromosomal aberrations. 

In serine proteases, the SI site usually contributes most to substrate recognition and catalysis. Therefore, we examined the impact of mutations localized at the SI... 

LDL receptor is provided, with emphasis on the impact of mutations on its structure and function. 

DEFOIRDT T, BOSSIER p, SORGELOOS p and VERSTRAETE w (2005) The impact of mutations in the quorum sensing systems of Aeromonas hydrophila. Vibrio anguillarutn and Vibrio harveyi on their virulence towards gnotobiotically cultured Artemia fran-ciscana, Environ Microbiol, 1,1239-1247. 

If he is convinced that the matter is important enough to merit serious personal involvement on his part, with the directly relevant work of assessing the impact of mutations on man and looking for possible changes in the mutation rate, he will be led far from the basic research on the mechanisms of mutation in which he was first interested. If, however, he leaves the task to others, there is a reasonable likelihood that it may not get tackled at all. Social concern in such matters has a tendency to arise first among basic scientists as an outcome of their own research, and it is often not shared in full measure by their more applied colleagues. 

Reeves JD, Miamidian JL, Biscone MJ, et al. Impact of mutations in the coreceptor binding site on human immunodeficiency virus type 1 fusion, infection, and entry inhibitor sensitivity. J Virol 2004 78(10) 5476-5485. 

Mutations within the SREBPs and the SREBP processing proteins (SCAP, SIP, S2P) have intensively been searched, especially in patients with familial hypercholesterolemia. So far, however, only four polymorphic sites within SCAP [38, 39], one within the promoter of SREBP-la [40], and five mutations in SREBP-2 [41] have been published. Yet, the impact of these polymorphisms and mutations on the response to statins has not been evaluated. 

Mateja A, Devedjiev Y, Krowarsch D, Longenecker K, Dauter Z, et al. 2002. The Impact of Glu-Ala and Glu-Asp mutations on the crystallization properties of RhoGDI the structure of RhoGDI at 1.3 A resolution. Acta Cryst D58 1983-1991. 

Shenker, A. (1995) G protein-coupled receptor structure and function the impact of disease-causing mutations. Baillieres Clin. Endocrinol. Metab. 9,427 51. 

In terms of the impact of polymorphisms, our results demonstrated that genetic mutations did not lead to differences in the inhibition of CYP2C9 or its allelic variants. This suggests that genetic background may not be involved in the predisposition of herb-drug interactions for ginseng with this enzyme. 

Ji H, Li D, ChenL et al. The impact of human EGFR kinase domain mutations on lung tumorigenesis and in vivo sensitivity to EGFR-targeted therapies. Cancer Cell 2006 9 485 95. 

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