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La malaltia cardiovascular, que és primera causa de mortalitat al món, com a fenotip complex depèn tant dels factors ambientals com dels genètics. Les variants genètiques comunes expliquen un 15-20% de l'heretabilitat de la malaltia. La metilació de l'ADN, que regula l'expressió gènica sense alterar la seqüència genètica primària, ha estat proposada com a mecanisme per unificar els efectes de l'estil de vida, els factors ambientals i els genètics. Per estudiar les relacions entre metilació de l'ADN i estil de vida, factors ambientals i factors de risc cardiovascular hem utilitzat estudis d'associació d'epigenoma complet, randomització mendeliana i integració d'òmiques. Hem ...
American Association for Cancer Research 2019 Proceedings: Abstracts 1-2748 - Part A
Mitochondria produce the chemical energy necessary for eukaryotic cell functions; hence mitochondria are an essential component of health, playing roles in both disease and aging. More than 80 human diseases and syndromes are associated with mitochondrial dysfunction; this book focuses upon diseases linked to these ubiquitous organelles. Accumulation of mitochondrial DNA damage results in mitochondrial dysfunction through two main pathways. Mutation in mitochondrial DNA causes diseases such as Kearns-Sayre syndrome and Pearson syndrome. Mutation in chromosomal DNA causes diseases such as Parkinson's disease and schizophrenia. These and many other diseases are reviewed in this book. Key Features Presents the detailed structure of mitochondria, mitochondrial function, roles of oxidants and antioxidants in mitochondrial dysfunction. Includes summary of both causes and effects of these diseases. Discusses current and potential future therapies for mitochondrial dysfunction diseases Explores a wide variety of diseases caused by dysfunctional mitochondria.
This text integrates the principles, methods and approaches of epidemiology and genetics in the study of disease aetiology. The authors define the central theme of genetic epidemiology as the study of the role of genetic factors and their interaction with environmental factors in the occurrence of disease in populations.
The fifth edition of the only comprehensive text dealing exclusively with rare or infrequently encountered malignancies in adults and children is an essential resource for any clinical oncologist. Encompasses all the information needed to diagnose and manage uncommon cancers, an area where advice and guidance is typically scarce Fully revised with new material and an evidence-based, teach-by-example approach Provides insight on real-world decision making in the clinical setting Edited and authored by a highly experienced and senior team of medical oncologists, radiation oncologists, and other specialists, giving a balanced and complete overview Extensively illustrated in full color throughout, including heat maps to show gene expression
Through this text, the author aims to make recent developments in the title subject (a modern strategy for the creation of statistical models to solve 'real world' problems) accessible to graduate students and researchers in the field of statistics.