Biochemical individuality

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  • The metabolic disease 3-methylglutaconic aciduria type I (MGA1) is char-acterized by an abnormal organic acid profile in which there is excessive urinary excretion of 3-methylglutaconic acid, 3-methylglutaric acid and 3-hydroxyisovaleric acid. Affected individuals display variable clinical manifestations ranging from mildly delayed speech development to severe psychomotor retardation with neurological handicap.

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  • Constitutively expressed human cytochrome P450 2D6 (CYP2D6; EC is responsible for the metabolism of approximately 25% of drugs in common clinical use. It is widely accepted that CYP2D6 is localized in the endoplasmic reticulum of cells; however, we have identified this enzyme in the mitochondria of human liver samples and found that extensive inter-individual variability exists with respect to the level of the mitochondrial enzyme.

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  • Chapter 004. Screening and Prevention of Disease Examples include tests that are biochemical (e.g., cholesterol, glucose), physiologic (e.g., blood pressure, growth curves), radiologic (e.g., mammogram, bone densitometry), or tissue specimens (e.g., Pap smear, fine-needle aspirations). In the future, it is anticipated that genetic testing will play an increasingly important role for predicting disease risk (Chap. 64). However, such tests are not widely used except for individuals at risk for high-penetrance genes based on family or ethnic history (e.g., BRCA1, BRCA2).

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  • K nowing body chemistry is important because people’s lives and health are important.To place this on a personal level, yotrr life and health are important.The reason I have devoted my life to the healing arts and teaching people how to live healthy lives is because I truly feel people-like you-are important. If you want to have a healthy life, you have to learn how to go about it. I have invested seventy years of my life learning how to take care of patients at my “live-in’’ health ranches, following what is called “the nature cure” phlosophy.

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  • The long-term effects of treatment with sirolimus-eluting stents, as compared with bare-metal stents, have not been established. Methods We performed an analysis of individual data on 4958 patients enrolled in 14 randomized trials comparing sirolimus-eluting stents with bare-metal stents (mean followup interval, 12.1 to 58.9 months). The primary end point was death from any cause. Other outcomes were stent thrombosis, the composite end point of death or myocardial infarction, and the composite of death, myocardial infarction, or reintervention....

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  • Cell-free expression has become a highly promising tool for the fast and efficient production of integral membrane proteins. The proteins can be produced as precipitates that solubilize in mild detergents usually without any prior denaturation steps. Alternatively, membrane proteins can be syn-thesized in a soluble form by adding detergents to the cell-free system.

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  • Chapter 10 introduction to metabolism. After studying this chapter you will be able to: Define catabolism and anabolism and know general properties regarding each, know the difference between a heterotroph and a autotroph, know the general spatial organization of pathways (multienzyme complexes, individual soluble proteins, membrane associated),...

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  • Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Critical Care giúp cho các bạn có thêm kiến thức về ngành y học đề tài: Intra-individual fasting versus postprandial variation of biochemical markers of liver fibrosis (FibroTest) and activity (ActiTest)...

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  • We summarize the currently available information regarding the state of ionization and tautomerization of the 4¢-aminopyrimidine ring of the thia-mine diphosphate on enzymes requiring this coenzyme. This coenzyme forms a series of covalent intermediates with its substrates as an electro-philic catalyst, and the coenzyme itself also carries out intramolecular pro-ton transfers, which is virtually unprecedented in coenzyme chemistry.

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  • Ech hydrogenase fromMethanosarcina barkeriis a member of a distinct group of membrane-bound [NiFe] hydrogenases with sequence similarity to energy-conserving NADH:quinone oxidoreductase (complex I). The sequence of the enzyme predicts the binding of three [4Fe-4S] clusters, one by subunit EchC and two by subunit EchF. Previous studies had shown that two of these clusters could be fully reduced under 10 5 Pa of H2at pH 7 giving rise to two distinct S½ electron paramagnetic resonance (EPR) signals, designated as the g¼1.89 and theg¼1.92 signal....

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  • Multi-protein complexes are emerging as important entities of biological activity inside cells that serve to create func-tional diversity by contextual combination of gene products and, at the same time, organize the large number of different proteins into functional units. Many a time, when studying protein complexes rather than individual proteins, the bio-logical insight gained has been fundamental, particularly in cases in which proteins with no previous functional anno-tation couldbe placed intoa functional context derived from theirmolecular environment. ...

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  • Eur. J. Biochem. 269, 5950–5955 (2002) Ó FEBS 2002 doi:10.1046/j.1432-1033.2002.03323.x The most active factor VIIa (FVIIa) variants identified to date carry concurrent substitutions at positions 158, 296and 298 with the intention of generating a thrombin-mimicking motif, optionally combined with additional replacements within the protease domain [Persson, E., Kjalke, M. & Olsen, O. H. (2001)Proc. Natl Acad. Sci. USA98, 13583– 13588]. Here we have characterized variants of FVIIa mutatedat one or twoof these positions toassess the relative importance of the individual replacements.

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  • The speciality of medical genetics is concerned with the study of human biological variation and its relationship to health and disease. It encompasses mechanisms of inheritance, cytogenetics, molecular genetics and biochemical genetics as well as formal, statistical and population genetics. Clinical genetics is the branch of the specialty involved with the diagnosis and management of genetic disorders affecting individuals and their families.

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  • THE TERM CELL IS DERIVED from the Latin cella, meaning storeroom or chamber. It was first used in biology in 1665 by the English botanist Robert Hooke to describe the individual units of the honeycomb-like structure he observed in cork under a compound microscope. The “cells” Hooke observed were actually the empty lumens of dead cells surrounded by cell walls, but the term is an apt one because cells are the basic building blocks that define plant structure.

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  • While communications and network security are ongoing concerns, current technology is also making impressive strides in bioinformatics, which concentrates on untangling the complex relationships and connections that enable viruses and other diseases to attack the human body. California-based Ingenuity’s Variant Analysis and IPA (Ingenuity Pathways Analysis) Web-based software identifies and analyses individually modelled relationships between proteins, genes, complexes, cells, tissues, metabolites, drugs, and diseases.

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  • Temperature has a strong influence on most individual biochemical reac-tions. Despite this, many organisms have the remarkable ability to keep certain physiological fluxes approximately constant over an extended tem-perature range. In this study, we show how temperature compensation can be considered as a pathway phenomenon rather than the result of a single-enzyme property.

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  • The practice of medicine has a long tradition of making a diagnosis by building up a composite picture of the symptoms and their history, a clinical examination and specialist investigations. A diagnosis enables the course of the disease to be predicted and the appropriate treatment used.However, scientific developments in genetics, by allowing us to detect specific abnormalities in chromosomes and in individual genes, are beginning to throw light on the mechanisms involved at a biochemical and molecular level.

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