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Genetic Diseases of the Kidney

Genetic Diseases of the Kidney
A Book

by Richard P. Lifton,Stefan Somlo,Gerhard H. Giebisch,Donald W. Seldin

  • Publisher : Academic Press
  • Release : 2009-02-25
  • Pages : 848
  • ISBN : 9780080924274
  • Language : En, Es, Fr & De
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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)

Genetic Diseases of the Kidney

Genetic Diseases of the Kidney
A Book

by Lisa M. Guay-Woodford,Vicente E. Torres,American Society of Nephrology

  • Publisher : Unknown Publisher
  • Release : 2005
  • Pages : 78
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Genetic Diseases of the Kidney

Genetic Diseases of the Kidney
A Book

by Wadi N. Suki,C. Thomas Caskey

  • Publisher : Unknown Publisher
  • Release : 1989
  • Pages : 85
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Genetic Diseases of the Kidney

Genetic Diseases of the Kidney
A Book

by Ellis D. Avner,Lisa M. Guay-Woodford

  • Publisher : Unknown Publisher
  • Release : 1999
  • Pages : 129
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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The Kidney in Genetic Disease

The Kidney in Genetic Disease
A Book

by Amin Y. Barakat

  • Publisher : Unknown Publisher
  • Release : 1986
  • Pages : 361
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Inheritance of Kidney and Urinary Tract Diseases

Inheritance of Kidney and Urinary Tract Diseases
A Book

by Adrian Spitzer,Ellis D. Avner

  • Publisher : Springer Science & Business Media
  • Release : 2012-12-06
  • Pages : 450
  • ISBN : 1461316030
  • Language : En, Es, Fr & De
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Genetic disorders have emerged as a prominent cause of morbidity and mor tality among infants and adults. As many as 10% to 20% of hospital admis sions and at least 10% of the mortality in this age group are due to inherited diseases. There are at least two factors that have brought genetic disorders into the forefront of pediatrics. One is a great reduction in childhood mortality due to infections and nutritional deficiency states, and the other is the rapid progress made in the identification of genetic defects. Amniocentesis, chorionic villus sampling, and recombinant DNA technology have already had a tremendous impact on the practice of medicine. This is why the first two chapters of this volume are dedicated to general principles of molecular genetics and to a description of the techniques used to diagnose genetic disorders at the DNA level. The relevance of this new area of science to the study of inherited renal diseases is reflected in the large body of knowledge that has been generated regarding the association between various glomerular nephritides and genetic markers such as the HLA system, and even more impressively in the direct or indirect identification of abnormal genes or gene products in Alport's syn drome, autosomal dominant polycystic kidney disease, and Lowe's syndrome. These discoveries figure prominently in the pages of this book. Yet, the progress we have made has barely scratched the surface of the problem.

The Genetics of Renal Disease

The Genetics of Renal Disease
A Book

by Frances Flinter,E. R. Maher,Anand Saggar-Malik

  • Publisher : Oxford Monographs on Medical G
  • Release : 2003
  • Pages : 568
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Provides a comprehensive account of both the hereditary neuropathies and more generalized disorders which may affect the renal tract. Specific chapters deal with individual renal tract disorders such as an extensive discussion of Alport syndrome, cystic renal diseases, and Bardet-Biedl and Alstrom syndromes. Each section gives a brief description of the clinical and pathological features of a particular disorder, followed by a review of the genetics of the disorder, including its incidence, the pattern of inheritance, genetic linkage and gene assignment, and carrier detection and prenatal diagnosis.

Polycystic Kidney Disease

Polycystic Kidney Disease
A Book

by Jinghua Hu,Yong Yu

  • Publisher : CRC Press
  • Release : 2019-10-24
  • Pages : 346
  • ISBN : 0429888953
  • Language : En, Es, Fr & De
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This volume focuses on the investigatory methods applied to autosomal dominant polycystic kidney disease (ADPKD), one of the most common human genetic diseases. ADPKD is caused by mutations in PKD1 and TRPP2, two integral membrane proteins that function as receptor/ion channels in primary cilia of tubular epithelial cells. Thus, ADPKD belongs to ciliopathies, a group of disorders caused by abnormal cilia formation or function. This proposed book will cover the state-of-the-art methods ranging from molecular biology, biochemistry, electrophysiology, to tools in model animal studies. Key Features Explores the role of cilia in polycystic kidney disease Focuses on myriad state-of-the-art methods and techniques Reviews specific mutations integral to this autosomal genetic disease Includes discussions of model systems

Autosomal Dominant Polycystic Kidney Disease

Autosomal Dominant Polycystic Kidney Disease
A Book

by A. Sessa

  • Publisher : S Karger Ag
  • Release : 1995
  • Pages : 192
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Recent years have witnessed an explosion of knowledge on autosomal dominant polycystic kidney disease (ADPKD), one of the most common of all genetic diseases. The major ADPKD gene, PKD1, has now been identified and progress is being made towards identifying the PKD2 gene. With contributions by leading researchers in the field, this volume stems from a seminar held in Vimercate, Italy, designed to discuss and evaluate the latest advances. The contributions update knowledge regarding various aspects of ADPKD, including molecular genetics, renal cystogenetic mechanisms and clinical considerations. They also present interesting epidemiological data and discuss ethical problems and issues relating to genetic counselling. In addition, an extensive section containing poster presentations provides the reader with an excellent overview of current directions in research on ADPKD.

Cystogenesis

Cystogenesis
A Book

by Jong Hoon Park,Curie Ahn

  • Publisher : Springer
  • Release : 2016-10-12
  • Pages : 126
  • ISBN : 9811020418
  • Language : En, Es, Fr & De
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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.

Gene Therapy for Renal Diseases and Transplantation

Gene Therapy for Renal Diseases and Transplantation
A Book

by Ariela Benigni,Giuseppe Remuzzi

  • Publisher : Karger Medical and Scientific Publishers
  • Release : 2008-01-01
  • Pages : 167
  • ISBN : 3805585055
  • Language : En, Es, Fr & De
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Initially conceived as a strategy to remedy inherited genetic disorders, gene therapy has been successfully applied in the last decade to ameliorate the renal function compromised by progressive renal diseases and to prevent kidney allograft rejection in experimental animals. In the present book, world-renowned experts are presenting new insights into viral and non-viral systems used to effect gene delivery, one chapter being dedicated to the new field of RNA interference (RNAi). This latter method may be successfully used in renal ischemia-reperfusion injury, trauma and transplantation. In the near future, gene therapy might also prove to be a new strategy to target molecules involved in tissue damage and inflammation processes that underlie ARF. So far, gene transfer has been successfully applied in experimental glomerulonephritis and interstitial fibrosis, and studies in larger animals are keenly awaited. Also covered are issues related to transplantation, which is the therapy of choice in many end-stage organ failures. Transfer of genes whose protein products have immunomodulatory properties have proven beneficial in treating acute and chronic graft rejection, one of the problems not satisfactorily solved by current anti-rejection drugs. Gene therapy thus may become a reality in clinical transplantation once its efficacy in larger animals has been demonstrated. Last but not least, a possible benefit of targeted gene therapy in renal cancer or HIV-associated nephropathy is explored. Covering a wide spectrum of topics, this publication provides a valuable overview of current developments and issues.

The Genetics of Renal Tract Disorders

The Genetics of Renal Tract Disorders
A Book

by Martin d'A. Crawfurd

  • Publisher : Oxford University Press, USA
  • Release : 1988
  • Pages : 663
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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This comprehensive account of renal tract disorders examines both hereditary nephropathies and more generalized disorders which affect the renal system. Beginning with introductory chapters on renal anatomy, embryology, and physiology, this extensive study covers many aspects of various disorders, including: urinary tract abnormality in chromosomal disorders and in inherited metabolic diseases; renal stones and crystalluria; renal tubular defects; and primary hereditary nephropathies, including a discussion of Alport's disease. Each chapter describes clinical and pathological features of particular disorders, and reviews the genetics of the disorders, including incidence, inheritance or familial occurrence, and prenatal diagnosis. Original studies are referred to in each section, making this a clear and thorough text for nephrologists, urologists, and geneticists.

Biomarkers in Kidney Disease

Biomarkers in Kidney Disease
A Book

by Vinood B. Patel

  • Publisher : Unknown Publisher
  • Release : 2022
  • Pages : 129
  • ISBN : 9789400777439
  • Language : En, Es, Fr & De
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X-Linked Genetic Diseases—Advances in Research and Treatment: 2012 Edition

X-Linked Genetic Diseases—Advances in Research and Treatment: 2012 Edition
ScholarlyBrief

by Anonim

  • Publisher : ScholarlyEditions
  • Release : 2012-12-26
  • Pages : 48
  • ISBN : 1481616412
  • Language : En, Es, Fr & De
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X-Linked Genetic Diseases—Advances in Research and Treatment: 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about X-Linked Genetic Diseases in a concise format. The editors have built X-Linked Genetic Diseases—Advances in Research and Treatment: 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about X-Linked Genetic Diseases in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of X-Linked Genetic Diseases—Advances in Research and Treatment: 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Pathophysiology of Kidney Disease and Hypertension E-Book

Pathophysiology of Kidney Disease and Hypertension E-Book
A Book

by A. Vishnu Moorthy,Bryan Neil Becker,Frederick J Boehm,Arjang Djamali

  • Publisher : Elsevier Health Sciences
  • Release : 2017-06-13
  • Pages : 240
  • ISBN : 0323529275
  • Language : En, Es, Fr & De
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This new text--a collaborative effort between students and teachers at the University of Wisconsin School of Medicine--provides a unique introductory overview of renal disease, including hypertension and renal transplantation, topics not always covered in other texts. It fully discusses the pathophysiology of renal disorders, using case histories and contemporary data to help you appreciate the mechanisms of these diseases and gain a better understanding of the treatment options available. A consistent chapter format--featuring chapter objectives, key points boxes, and helpful case questions with clinical applications throughout--makes the book user-friendly and easy to reference, while questions at the end of each chapter help you assess your mastery of the material. Discusses significant advances in the field--including those related to pathophysiology of glomerular diseases, electrolyte disorders, renal tubular transport systems, hypertension, transplantation, hereditary diseases, and chronic kidney disease--to keep your knowledge current. Uses a consistent chapter format--featuring chapter objectives, key points boxes, and helpful case questions with clinical applications throughout--to make the book user-friendly and easy to reference. Features questions at the end of each chapter to help you gauge your mastery of the material.

Genetic Disorders of Man

Genetic Disorders of Man
A Book

by Richard Merle Goodman

  • Publisher : Unknown Publisher
  • Release : 1970
  • Pages : 1009
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Reversing Genetic Disease: Kidney Filtration The Raw Vegan Plant-Based Detoxification & Regeneration Workbook for Healing Patients

Reversing Genetic Disease: Kidney Filtration The Raw Vegan Plant-Based Detoxification & Regeneration Workbook for Healing Patients
A Book

by Health Central

  • Publisher : Unknown Publisher
  • Release : 2019-09-20
  • Pages : 74
  • ISBN : 9781395413224
  • Language : En, Es, Fr & De
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Genetic Dissection of Hypertension-related Renal Disease Using the Dahl Salt-sensitive Rat

Genetic Dissection of Hypertension-related Renal Disease Using the Dahl Salt-sensitive Rat
A Book

by Michael R. Garrett

  • Publisher : Unknown Publisher
  • Release : 2006
  • Pages : 235
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Chronic kidney disease (CKD) is an important medical problem worldwide that can, left undiagnosed and untreated, develop into end stage renal failure. Unfortunately, knowledge of the genetic factors that cause CKD is limited, except for some monogenic forms of kidney disease. It is our goal to understand the genetic basis of renal disease observed in the Dahl salt-sensitive (S) rat, a model of hypertension and renal disease and ultimately apply this knowledge to humans. An initial linkage analysis for urinary protein excretion (UPE), including several other renal and cardiovascular traits was performed at multiple time points using a backcross population derived from the S rat and the spontaneously hypertensive rat (SHR). The study identified 10 quantitative trait loci (QTL) linked to renal damage and/or function independent from the effects of saltloading. A second linkage analysis sought to examine the effect of salt-loading on the observation of UPE QTL using a backcross population raised on 2% NaCl. The second linkage analysis confirmed the results of the first and identified that UPE QTL on chromosome 2, 11, and 19 were influenced by salt-loading. Congenic strains were developed on select chromosomes (2, 6, 9, 11, and 13) to confirm the linkage analysis and to examine the effect of each QTL individually on the S background. These congenic strains demonstrated large and significant effects on UPE compared to the S rat. Further work sought to characterize the chromosome 2 congenic [S. SHR(2)] strain by conducting a time-course analysis (wk 4 to 20), including evaluating several renal parameters, histology, electron microscopy, and gene expression/pathway analysis. Throughout the time course the congenic strain consistently maintained a two-fold reduction in UPE, and significantly reduced glomerular, tubular and interstitial changes. Gene expression/pathway analysis revealed that pathways involved in cellular assembly and organization, cellular movement, and immune response were controlled differently between the S and congenic providing a potential mechanism of the QTL. Fine-mapping using recombinant progeny testing (RPT) further reduced the QTL region to contain 64 known and/or predicted gene, including several interesting candidate genes.

The Encyclopedia of Genetic Disorders and Birth Defects

The Encyclopedia of Genetic Disorders and Birth Defects
A Book

by James Wynbrandt,Mark D. Ludman

  • Publisher : Infobase Publishing
  • Release : 2009-01-01
  • Pages : 705
  • ISBN : 1438120958
  • Language : En, Es, Fr & De
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Includes numerous entries that describe the condition, its prognosis, prevalence, mode of inheritance and the availability of carrier screening and prenatal diagnosis. Entries for subjects and terminology important to genetic disorders and congenital anomalies are also included.

Genetic Counselling and Adult Polycystic Kidney Disease

Genetic Counselling and Adult Polycystic Kidney Disease
Patients' Knowledge, Perceptions and Understanding

by Patricia A. Wilkie

  • Publisher : Unknown Publisher
  • Release : 1992
  • Pages : 129
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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