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Genetics of Kidney Diseases

Genetics of Kidney Diseases
Author: Harvest F. Gu
Publisher: Frontiers Media SA
Total Pages: 119
Release: 2020-05-22
Genre:
ISBN: 2889637379

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Genetic Diseases of the Kidney

Genetic Diseases of the Kidney
Author: Richard P. Lifton
Publisher: Academic Press
Total Pages: 895
Release: 2009-02-25
Genre: Science
ISBN: 0080924271

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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)


Molecular and Genetic Basis of Renal Disease

Molecular and Genetic Basis of Renal Disease
Author: David B. Mount
Publisher: Elsevier Health Sciences
Total Pages: 604
Release: 2008-01-01
Genre: Medical
ISBN: 1416002529

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This companion to Brenner and Rector's The Kidney offers a state-of-the-art summary of the most recent advances in renal genetics. Molecular and Genetic Basis for Renal Disease provides the nephrologist with a comprehensive look at modern investigative tools in nephrology research today, and reviews the molecular pathophysiology of the nephron as well as the most common genetic and acquired renal diseases. A comprehensive clinical review of Medelian renal disease is also be included. Detailed review of the molecular anatomy and pathophysiology of the nephron that provides relevant basic science to consider when diagnosing and managing patients with these disorders.


Cystogenesis

Cystogenesis
Author: Jong Hoon Park
Publisher: Springer
Total Pages: 126
Release: 2016-10-12
Genre: Medical
ISBN: 9811020418

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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.


Chronic Kidney Disease

Chronic Kidney Disease
Author: Thomas Rath
Publisher: BoD – Books on Demand
Total Pages: 307
Release: 2018-02-21
Genre: Medical
ISBN: 953513843X

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Known worldwide, chronic kidney disease (CKD) is a disease that affects up to 4% of the population with increasing figures also in the developing countries. Life expectancy of patients affected by CKD is shortened compared to the overall population, and only a minority of patients reach end-stage renal disease (ESRD) with the need for dialysis or renal transplantation; death overtakes dialysis. In the 13 chapters, this book sheds light on the different aspects related to pathophysiology and clinical aspects of CKD, providing interesting insights into not only inflammation and cardiovascular risk but also the interplay of hormones and the functional aspects of endothelial function. In addition, chapters dealing with genetic aspects of polycystic kidney disease and also the clinical handling of patients with CKD and peritoneal dialysis will be beneficial for the open-minded reader.


Understanding Kidney Diseases

Understanding Kidney Diseases
Author: Hugh C. Rayner
Publisher: Springer Nature
Total Pages: 401
Release: 2020-06-05
Genre: Medical
ISBN: 3030430278

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This book combines the reference material of a nephrology textbook with the everyday relevance of a clinical handbook. This second edition develops and expands upon the success of the first. All the content has been updated and entirely new chapters on acid-base disorders and stone disease have been added. Understanding Kidney Diseases includes over 60 real-life case studies and is illustrated with over 200 figures. Readers can test their knowledge with a bank of multiple-choice questions and put it into practice by answering questions that patients frequently ask. The book provides all that students, residents and fellows need in order to approach a patient with a kidney problem with confidence.


Podocytopathy

Podocytopathy
Author: Z.-H. Liui
Publisher: Karger Medical and Scientific Publishers
Total Pages: 274
Release: 2014-05-16
Genre: Science
ISBN: 3318026514

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The podocyte is a key cell that forms the last barrier of the kidney filtration unit. One of the most exciting developments in the field of nephrology in the last decade has been the elucidation of its biology and its role in the pathophysiology of inherited and acquired glomerular disease, termed podocytopathy. In this publication, world-renowned experts summarize the most recent findings and advances in the field: they describe the unique biological features and injury mechanisms of the podocyte, novel techniques used in their study, and diagnosis and potential therapeutic approaches to glomerular diseases. Due to its broad scope, this publication is of great value not only for clinical nephrologists and researchers, but also for students, residents, fellows, and postdocs.


Handbook of Life Course Health Development

Handbook of Life Course Health Development
Author: Neal Halfon
Publisher: Springer
Total Pages: 667
Release: 2017-11-20
Genre: Medical
ISBN: 3319471430

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This book is open access under a CC BY 4.0 license. ​This handbook synthesizes and analyzes the growing knowledge base on life course health development (LCHD) from the prenatal period through emerging adulthood, with implications for clinical practice and public health. It presents LCHD as an innovative field with a sound theoretical framework for understanding wellness and disease from a lifespan perspective, replacing previous medical, biopsychosocial, and early genomic models of health. Interdisciplinary chapters discuss major health concerns (diabetes, obesity), important less-studied conditions (hearing, kidney health), and large-scale issues (nutrition, adversity) from a lifespan viewpoint. In addition, chapters address methodological approaches and challenges by analyzing existing measures, studies, and surveys. The book concludes with the editors’ research agenda that proposes priorities for future LCHD research and its application to health care practice and health policy. Topics featured in the Handbook include: The prenatal period and its effect on child obesity and metabolic outcomes. Pregnancy complications and their effect on women’s cardiovascular health. A multi-level approach for obesity prevention in children. Application of the LCHD framework to autism spectrum disorder. Socioeconomic disadvantage and its influence on health development across the lifespan. The importance of nutrition to optimal health development across the lifespan. The Handbook of Life Course Health Development is a must-have resource for researchers, clinicians/professionals, and graduate students in developmental psychology/science; maternal and child health; social work; health economics; educational policy and politics; and medical law as well as many interrelated subdisciplines in psychology, medicine, public health, mental health, education, social welfare, economics, sociology, and law.


Epigenetics and Epigenomics

Epigenetics and Epigenomics
Author: Christopher J. Payne
Publisher: BoD – Books on Demand
Total Pages: 222
Release: 2014-04-29
Genre: Medical
ISBN: 9535113631

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The book aims to provide an overview of current knowledge regarding epigenetics and epigenomics. Included are reviews on the role of epigenetics in the development and pathogenesis of the vascular endothelium and nervous system, as well as our current understanding of the potential etiologies of Autism Spectrum Disorders. Additional chapters are devoted to DNA methylation, genomic imprinting and human reproduction. A discussion of the role of the epigenome in cancer prevention and polyphenols is also included. Authors provide research findings from both human data and animal model studies. This book will be of interest to scientists, physicians and lay readers wishing to review recent developments in the field of epigenetics and epigenomics.