In recent years, the role of cilia in the study of health, development and disease has been increasingly clear, and new discoveries have made this an exciting and important field of research. This comprehensive volume, a complement to the new three-volume treatment of cilia and flagella by King and Pazour, presents easy-to-follow protocols and detailed background information for researchers working with cilia and flagella. - Covers protocols for primary cilia across several systems and species - Both classic and state-of-the-art methods readily adaptable across model systems, and designed to last the test of time - Relevant to clinicians and scientists working in a wide range of fields

The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia. When cilia go wrong, there are profound consequences; these are discussed in detail for the first time in Ciliopathies: a reference for clinicians. The book provides a clinical overview and reference to this newly emergent group of disorders ranging from Alström syndrome to putative ciliopathic disorders. Each chapter provides an in-depth discussion on a specific disorder, including the latest scientific research together with a description of its features, and practical guidelines on diagnosis. The authors also examine the evidence for dysfunction of cilia in cancer and more common disorders. Ciliopathies: a reference for clinicians will appeal to those involved in the care of patients with ciliopathies, including specialists in the fields of nephrology, diabetes, cardiology, and ophthalmology, and non-clinical researchers interested in cilia biology.

Nearly every cell in the human body has one or more protrusive structures called cilia or flagella. These power cell movement and fluid flow, sense the extracellular environment, coordinate cell signaling, and establish left-right asymmetry during development. Mutations in genes that encode cilia can lead to disorders known as ciliopathies. Written and edited by experts in the field, this collection from Cold Spring Harbor Perspectives in Biology examines key aspects of ciliary biology-from the molecular to the organismal level-in normal physiology and disease. The contributors dissect the complex structures of motile and nonmotile (primary) cilia, discuss how the intraflagellar transport machinery moves cargo across the central axoneme, and review how the ciliary gate controls the composition of cilia and flagella. The roles of cilia in coordinating cellular responses to environmental stimuli via cell signaling pathways (e.g., Hedgehog) are also covered, as are physiological functions in processes such as fertilization, mucociliary clearance, and vision. The authors also survey the wide spectrum of ciliopathies, describing their genetic bases, pathogenic mechanisms, and clinical manifestations. This volume is therefore an indispensable reference for all cell and developmental biologists, as well as medical geneticists and clinical scientists wishing to understand and treat disorders involving ciliary dysfunction.

Genes and Evolution, the latest volume in the Current Topics in Developmental Biology series, covers genes and evolution, with contributions from an international board of authors. The chapters provide a comprehensive set of reviews covering such topics as genes and plant domestication, gene networks, phenotypic loss in vertebrates, reproducible evolutionary changes, and epithelial tissue. - Covers the area of genes and evolution - Contains invaluable contributions from an international board of authors - Provides a comprehensive set of reviews covering such topics as genes and plant domestication, gene networks, phenotypic loss in vertebrates, reproducible evolutionary changes and epithelial tissue

Genetic approaches have revolutionized our understanding of the fundamental causes of human disease by permitting the identification of specific genes in which variation causes or contributes to susceptibility to, or protection from, disease. More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine. Genetic Diseases of the Kidney offers expert insight into the role of genetic abnormalities in the pathogenesis of abnormal kidney function and kidney disease. Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic "disturbance to the systemic appearance of disease. - Lays the essential foundation of mammalian genetics principles for medical professionals with little or no background in genetics - Analyzes specific renal diseases – both monogenic disorders confined to the kidney and systemic diseases with renal involvement – and explains their genetic causes - World-renowned editors and authors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension)

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 renal tubular epithelial cell proliferation is observed, followed by disrupted calcium homeostasis and aberrant intracellular cyclic AMP (cAMP) accumulation. Increased cell proliferation with fluid secretion leads to the development of thousands of epithelial-lined, fluid-filled cysts in kidneys. It is also accompanied by interstitial inflammation, fibrosis, and finally reaching end-stage renal disease (ESRD). In human ADPKD, the age at which renal failure typically occurs is later in life, however no specific targeted medications are available to cure ADPKD. Recently, potential therapeutic targets or surrogate diagnostic biomarkers for ADPKD are proposed with the advances in the understanding of ADPKD pathogenesis, and some of them were attempted for clinical trials. Herein, we will summarize genetic and epi-genetic molecular mechanisms in ADPKD progression, and overview the currently available biomarkers or potential therapeutic reagents suggested.