This monograph describes the progress in neuropathological HD research made during the last century, the neuropathological hallmarks of HD and their pathogenic relevance. Starting with the initial descriptions of the progressive degeneration of the striatum as one of the key events in HD, the worldwide practiced Vonsattel HD grading system of striatal neurodegeneration will be outlined. Correla…
This book offers a comprehensive overview of medullary thyroid carcinoma, both in the more common sporadic form and in the familial form, multiple endocrine neoplasia (MEN) types 2A and 2B. The coverage includes, but is not limited to, molecular biology and genetics, pathology, clinical presentation, imaging techniques, surgical treatment, and follow-up. The role of calcitonin as a highly sensi…
This book, written by very well known opinion leaders in the field, covers all aspects of familial Mediterranean fever, the most common monogenic autoinflammatory disease. The opening chapters explain the genetic basis of the disease and provide insights into the pathogenesis derived from recent experimental studies. A large part of the book is then devoted to a detailed description of the typi…
This book presents a common principle of actions of long noncoding RNAs (lncRNAs) from points of view at the atomic, molecular and cellular levels. At the atomic level, chemical studies of ribonucleic acids explain the chemical behavior of lncRNAs. Structural biological analysis of lncRNAs and its binding proteins also reveal the precise mechanisms of their actions. Molecular biological approac…
This volume focuses on the roles of long non-coding RNAs (lncRNAs) in contexts ranging from human cancers to cardiovascular disease and ageing. The role of lncRNAs in X-inactivation and those lncRNAs derived from pseudogenes, past retroelements integrated within the human genome, as well as the role these pseudogene-derived lncRNAs play in cancer development are discussed in detail. Further, th…
The first section explores genome-wide association studies, the extension of this method to less accessible phenotypes and the arrival of next-generation sequencing. A further section goes beyond genetics to illustrate how other data sources can help interpret genetic data, such as leveraging population diversity, the correlation of genetic associations with physiological measurements, gene exp…
Evolution is just a theory, isn’t it? What is a scientific theory anyway? Don’t scientists prove things? What is the difference between a fact, a hypothesis and a theory in science? How does scientific thinking differ from religious thinking? Why are most leading scientists atheists? Are science and religion compatible? Why are there so many different religious beliefs but only one science?…
This book presents a common principle of actions of long noncoding RNAs (lncRNAs) from points of view at the atomic, molecular and cellular levels. At the atomic level, chemical studies of ribonucleic acids explain the chemical behavior of lncRNAs. Structural biological analysis of lncRNAs and its binding proteins also reveal the precise mechanisms of their actions. Molecular biological approac…
This volume focuses on the roles of long non-coding RNAs (lncRNAs) in contexts ranging from human cancers to cardiovascular disease and ageing. The role of lncRNAs in X-inactivation and those lncRNAs derived from pseudogenes, past retroelements integrated within the human genome, as well as the role these pseudogene-derived lncRNAs play in cancer development are discussed in detail. Further, th…