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Various Genetic (various + genetic)
Selected AbstractsIncreased stress protein ORP150 autoantibody production in Type 1 diabetic patientsDIABETIC MEDICINE, Issue 2 2006Y. Nakatani Abstract Aims Various genetic and environmental stresses interfere with protein folding in the endoplasmic reticulum (ER), which leads to the induction of ER stress. It has recently been reported that ER stress is involved in the development of diabetes in diabetic animal models. The aim of this study is to estimate ER stress levels in Type 1 diabetic patients. Methods We recruited Type 1 diabetic patients undergoing periodic follow-up examinations (n = 91) and healthy non-diabetic individuals (n = 37), and measured their serum anti-oxygen-related protein (ORP)150 autoantibody levels. Results Anti-ORP150 autoantibody levels in Type 1 diabetic patients were significantly higher compared with those in healthy non-diabetic subjects. Furthermore, the serum autoantibody levels in Type 1 diabetic patients correlated with HbA1c (F > 3.0, P = 0.079), indicating that hyperglycaemia itself induces ER stress in diabetes. Conclusions Anti-ORP150 autoantibody levels in Type 1 diabetic patients are higher compared with non-diabetic subjects, suggesting that ER stress is increased in Type 1 diabetes. [source] ATP-Noncompetitive Inhibitors of CDK,Cyclin ComplexesCHEMMEDCHEM, Issue 1 2009Mar Orzáez Dr. Abstract Progression through the cell division cycle is controlled by a family of cyclin-dependent kinases (CDKs), the activity of which depends on their binding to regulatory partners (cyclins A,H). Deregulation of the activity of CDKs has been associated with the development of infectious, neurodegenerative, and proliferative diseases such as Alzheimer's, Parkinson's, or cancer. Most cancer cells contain mutations in the pathways that control the activity of CDKs. This observation led this kinase family to become a central target for the development of new drugs for cancer therapy. A range of structurally diverse molecules has been shown to inhibit the activity of CDKs through their activity as ATP antagonists. Nevertheless, the ATP binding sites on CDKs are highly conserved, limiting the kinase specificity of these inhibitors. Various genetic and crystallographic approaches have provided essential information about the mechanism of formation and activation of CDK,cyclin complexes, providing new ways to implement novel research strategies toward the discovery of new, more effective and selective drugs. Herein we review the progress made in the development of ATP-noncompetitive CDK,cyclin inhibitors. [source] Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate,,HUMAN MUTATION, Issue 1 2004F. Pezzetti Abstract The pathogenesis of cleft lip with or without cleft palate (CL/P) is complex; its onset could be due to the interaction of various genetic and environmental factors. Recently MTHFR functional polymorphisms were found to increase the risk of this common malformation; however, this finding is still debated. We investigated 110 sporadic CL/P patients, their parents and 289 unrelated controls for c.665C>T (commonly known as 677C>T; p.Ala222Val) and c.1286A>C (known as 1298A>C; p.Glu429Ala) polymorphism in the MTHFR gene. Transmission disequilibrium test (TDT) showed no distortion in allele transmission. Nevertheless, association studies revealed significant differences in allele frequencies between mothers of CL/P patients and controls. This work supports the hypothesis that a lower MTHFR enzyme activity in pregnant women, mostly related to the c.665C>T variant form, is responsible for a higher risk of having CL/P affected offspring. © 2004 Wiley-Liss, Inc. [source] Systems approaches to beef cattle production systems using modeling and simulationANIMAL SCIENCE JOURNAL, Issue 4 2010Hiroyuki HIROOKA ABSTRACT Systems approach techniques have been applied to modeling production systems for beef cattle from the relatively micro-level of tissues and organs to the macro-level of farms and geographical regions. This paper reviews the various types of beef cattle production models already in operation in order to analyze beef cattle production systems and their components. It may be theoretically possible to construct system models which describe such complex production systems and can be generally used in various genetic, nutritional, management and economic situations as well as in training, extension and educational programs. Moreover, the systems approach can assist in the organization of information and identification of knowledge gaps and thereby open an avenue to multi-disciplinary research projects. [source] | ||||||||||