Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a highly prevalent hereditary renal disorder in which fluid-filled cysts are appeared in both kidneys. Main causative genes of ADPKD are PKD1 and PKD2, encoding for polycystin-1 (PC1) and polycystin-2 (PC2) respectively. Those proteins are localized on primary cilia and function as mechanosensor in response to the fluid flow, translating mechanistic stimuli into calcium signaling. With mutations either of PKD1 or PKD2, hyper-activated...

How will increased understanding of the human genome affect our ability to diagnose and treat disease? The subject of recombinant DNA technology is no longer limited to the research laboratory; it is being discussed in ever-widening medical circles. Introduction to Molecular Medicine is especially written for the physician who is not a genetics expert but wishes to understand this new science and find entry to the more specialized publications. The first chapters present t...

Each chapter will focus on the known molecular characteristics of specific childhood cancers, focusing on how the molecular ‘drivers’ can be exploited from a therapeutic standpoint with currently available targeted agents. Where applicable, integration of targeted therapies with conventional cytotoxic agents will be considered.This volume will provide a comprehensive summary of molecular characteristics of childhood cancers, and how the changes involved in transformation provide us...

In the most recent years, each of the RNA silencing pathways of plants have appeared to generate ncRNAs with dedicated functions, specialized biological activities and specific functional scopes. RNA silencing plays a crucial role in coordinating the expression, stability, protection and inheritance of eukaryotic genomes. It compromises several mechanisms, that invariably depend on core small non coding RNAs and that achieve dedicated sequence-specific functions. RNA silencing has been rec...

Nearly a century of scientific research has revealed that mitochondrial dysfunction is one of the most common and consistent phenotypes of cancer cells. A number of notable differences in the mitochondria of normal and cancer cells have been described. These include differences in mitochondrial metabolic activity, molecular composition of mitochondria and mtDNA sequence, as well as in alteration of nuclear genes encoding mitochondrial proteins. This book, Mitochondria and Cancer, ...

Till recently, mutations in genes were described in textbooks as deletions or point mutations. These mutations can be inherited from a parent or they are de novo alterations. The discovery in 1991 that human disease can be caused by large-scale ex pansion of highly unstable trinucleotide repeats has elucidated a new mutation mechanism, heritable unstable DNA. In the subsequent years more then 10 such disease genes have been identified. All dynamic mutations have been iden tified in neurolo...

This volume describes high-throughput approaches to a series of robust, established methodologies in molecular genetic studies of population samples. Such developments have been essential not only to linkage and association studies of single-gene and complex traits in humans, animals and plants, but also to the characterisation of clone banks, for example in mapping of genomes. Chapters have been written by developers or highly experienced end-users concerned with a diverse array of biolog...

Microbial physiology, biochemistry, and genetics allowed the formulation of concepts that turned out to be important in the study of higher organisms. In the first section, the principles of bacterial growth are given, as well as the description of the different layers that enclose the bacterial cytoplasm, and their role in obtaining nutrients from the outside media through different permeability mechanism described in detail. A chapter is devoted to allostery and is indispensable for the ...

Long non-coding RNAs (lncRNAs), tentatively defined as ncRNAs of more than two hundred nucleotides in length, are characterized by the complexity and diversity of their sequences and mechanisms of action. Based on genome-wide studies, more than 3,300 of them exist, but to date only the limited number of functional lncRNAs have been identified and characterized. Nonetheless, lncRNAs have emerged as key molecules involved in the control of transcriptional and posttranscriptional gene regulat...

This book offers an essential guide to RNA activation (RNAa), an emerging and fascinating new field. RNAa is a small RNA-guided and Argonaute-dependent gene regulation phenomenon in which promoter-targeted short double-stranded RNAs (dsRNAs) induce target gene expression at the transcriptional level. It occurs primarily in the nucleus and can be mediated by artificially designed short duplex RNAs that target regulatory sequences (e.g., promoters, genes’ 3’ termini and enhancers) and natura...