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BL
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| Record Number
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851555
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| Title & Author
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Polycystic kidney disease : : translating mechanisms into therapy /\ Benjamin D. Cowley, Jr., John J. Bissler, editors.
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| Publication Statement
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New York, NY :: Springer,, 2018.
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| Page. NO
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1 online resource (xiii, 273 pages) :: illustrations (some color)
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| ISBN
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1493977830
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: 1493977849
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: 1493992848
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: 9781493977833
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: 9781493977840
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: 9781493992843
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1493977822
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9781493977826
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| Notes
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Includes index.
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| Contents
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Intro; Dedication; Preface; Contents; Contributors; Part I: PKD: Genes and Proteins; 1: Classical Polycystic Kidney Disease: Gene Structures and Mutations and Protein Structures and Functions; Autosomal Dominant Polycystic Kidney Disease (ADPKD); Introduction to Autosomal Dominant Polycystic Kidney Disease (ADPKD); The ADPKD Genes; PKD1; PKD2; Further ADPKD Genetic Heterogeneity?; Mutation Analysis of the ADPKD Genes; Screening Approaches; What Types of Mutations Cause ADPKD?; Mosaicism in ADPKD; Genotype/Phenotype Studies; Genic Effects; Allelic Effects.
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Identification of the ARPKD Gene, PKHD1Mutation Analysis of PKHD1; Genotype-Phenotype Studies; Molecular Diagnosis in ARPKD; Confirm or Establish the Diagnosis in a Proband; Prenatal Diagnostics; Preimplantation Diagnosis (PGD); ARPKD Rodent Models; Structure and Processing of Fibrocystin (FPC); Localization and Function of FPC; Fibrocystin Paralog; References; 2: Bardet-Biedl Syndrome; Introduction; Clinical Features of Bardet-Biedl Syndrome; Major Symptoms; Retinal Degeneration; Obesity (Fig. 2.1b); Limb Abnormalities (Fig. 2.1c); Intellectual Disability; Genital Abnormalities.
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Molecular Mechanisms of Bardet-ƯBiedl SyndromeSubcellular Localization of BBS Proteins; Cytoplasmic Functions of BBS Proteins; Microtubule Network Organization; Retrograde Intracellular Transport; Neuronal Development and Function; Ciliary Functions of BBS Proteins; Ciliogenesis; Intraflagellar Transport; Signaling Pathways; Sonic Hedgehog Signaling; Wnt Signaling; Other Signaling Pathways; Nuclear Functions of BBS7; Summary; References; 3: Cystic Kidney Diseases Associated with Increased Cancer Risk: Tuberous Sclerosis Complex, Von Hippel-Lindau, and Birt-Hogg-Dubé; Introduction.
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Recessive Inheritance of ADPKD Alleles and Early-Onset ADPKDADPKD Digenic Inheritance; Contiguous Deletion of PKD1 and TSC2 Results in Early-Onset PKD; Molecular Diagnostics in ADPKD; ADPKD Rodent Models; The Mutational Mechanism in ADPKD; ADPKD Proteins: Structure of the Polycystins; Polycystin-1 (PC1); Polycystin-2 (PC2); Localization and Trafficking of the Polycystins; Subcellular Localization; Cilia/Plasma Membrane (PM) Trafficking; Functions of the Polycystins; Polycystin Paralogs; Autosomal Recessive Polycystic Kidney Disease; Introduction to ARPKD.
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Renal Abnormalities (Fig. 2.1e)Minor Symptoms; Diagnosis; Cloning of BBS Genes; Positional Cloning; Evolutionary Strategy; Small Consanguineous Pedigrees; Cellular and Molecular Architecture of BBS; Genetic Overlap with Other Ciliopathies; Next-Generation Sequencing; Inheritance of BBS; Autosomal Recessive Inheritance and Its Limitations; Phenotypic Effect of Heterozygous Mutations; Oligogenic Inheritance; Penetrance and Expressivity Variation in BBS Homozygous Individuals; Digenic and Triallelic Model; Modifying Genes; Application of Oligogenic Models.
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| Abstract
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This comprehensive guide to polycystic kidney disease captures the growing knowledge of this common, potentially-fatal and hereditary disease. The first two sections of the book provide an overview of PKD gene structures, mutations and pathophysiologic mechanisms. This is followed by chapters focused on PKD's clinical features, including renal and extrarenal manifestations, and appropriate management of patients. The final section covers current clinical trials and emerging therapies in PKD. Authored by experts in the field, this book provides the clinician and researcher with critical information on basic and translational science and clinical approaches in one concise resource.
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| Subject
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Polycystic kidney disease-- Molecular aspects.
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Polycystic kidney disease-- Treatment.
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HEALTH FITNESS-- Diseases-- General.
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MEDICAL-- Clinical Medicine.
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MEDICAL-- Diseases.
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MEDICAL-- Evidence-Based Medicine.
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MEDICAL-- Internal Medicine.
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Medicine.
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| Subject
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Nephrology.
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| Dewey Classification
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616.6/1
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| LC Classification
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RC918.P58
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| Added Entry
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Bissler, John J.
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Cowley, Benjamin D.
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