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Genetic Diseases Of The Kidney

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Genetic Diseases of the Kidney

Genetic Diseases of the Kidney Book
Author : Richard P. Lifton,Stefan Somlo,Gerhard H. Giebisch,Donald W. Seldin
Publisher : Academic Press
Release : 2009-02-25
ISBN : 9780080924274
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : Wadi N. Suki,C. Thomas Caskey
Publisher : Unknown
Release : 1989
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genetic Diseases of the Kidney book written by Wadi N. Suki,C. Thomas Caskey, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genetics of Kidney Diseases

Genetics of Kidney Diseases Book
Author : Harvest F. Gu,Martin H. De Borst
Publisher : Frontiers Media SA
Release : 2020-05-22
ISBN : 2889637379
Language : En, Es, Fr & De

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Book Description :

Download Genetics of Kidney Diseases book written by Harvest F. Gu,Martin H. De Borst, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

The Genetics of Renal Disease

The Genetics of Renal Disease Book
Author : Frances Flinter,E. R. Maher,Anand Saggar-Malik
Publisher : Oxford Monographs on Medical G
Release : 2003
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Renal genetic disorders may become apparent at any time in life and recognition of specific renal disorders is important in allowing accurate genetic counselling. Active counselling requires knowledge about the natural history of the disorder, an understanding of the genetic component and mode of inheritance, risk of the disorder in other family members, information about patient attitudes towards family planning and the possibility of pre-natal diagnosis. The Genetics of Renal Disease covers these issues in detail. The book provides a comprehensive account of both the hereditary nephropathies and more generalised disorders which may affect the renal tract. It includes comprehensive guidelines from an international group of authors on renal function and development, choromosomal disorders, dysmorphic syndromes, inherited predisposition to kidney cancer and gene therapy for renal cancer. Specific chapters deal with individual renal tract disorders such as an extensive discussion of Alport's disease, cystic renal diseases, the 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 incidence, inheritance of familial occurrence, genetic linkage and gene assignment, and prenatal diagnosis and carrier detection. Original studies are extensively quoted and are referenced at the end of each section. There are a great many dysmorphic syndromes which involve the urinary tract. These are incorporated within the book. Aimed primarily at clinical and medical geneticists, this book will also appeal to researchers into genetic kidney disease and genetic counsellors as well as nephrologists with an interest in this area.

Molecular and Genetic Basis of Renal Disease

Molecular and Genetic Basis of Renal Disease Book
Author : David B. Mount,Martin R. Pollak
Publisher : Elsevier Health Sciences
Release : 2008
ISBN : 1416002529
Language : En, Es, Fr & De

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Book Description :

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.

Genetic Diseases of the Kidney

Genetic Diseases of the Kidney Book
Author : Lisa M. Guay-Woodford,Vicente E. Torres,American Society of Nephrology
Publisher : Unknown
Release : 2005
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genetic Diseases of the Kidney book written by Lisa M. Guay-Woodford,Vicente E. Torres,American Society of Nephrology, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Inheritance of Kidney and Urinary Tract Diseases

Inheritance of Kidney and Urinary Tract Diseases Book
Author : Adrian Spitzer,Ellis D. Avner
Publisher : Springer Science & Business Media
Release : 2012-12-06
ISBN : 1461316030
Language : En, Es, Fr & De

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Book Description :

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.

Hereditary Kidney Diseases

Hereditary Kidney Diseases Book
Author : A. Sessa
Publisher : Karger Medical and Scientific Publishers
Release : 1997-01-01
ISBN : 9783805565516
Language : En, Es, Fr & De

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Book Description :

I would recommend this slim volume for geneticists with an interest in hereditary kidney diseases who would appreciate well written and referenced, up to date papers on the specific conditions included.' Journal of Medical Genetics

Genetic Diseases of the Kidney

Genetic Diseases of the Kidney Book
Author : Ellis D. Avner,Lisa M. Guay-Woodford
Publisher : Unknown
Release : 1999
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genetic Diseases of the Kidney book written by Ellis D. Avner,Lisa M. Guay-Woodford, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Polycystic Kidney Disease

Polycystic Kidney Disease Book
Author : Jinghua Hu,Yong Yu
Publisher : CRC Press
Release : 2019-10-24
ISBN : 0429888953
Language : En, Es, Fr & De

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Book Description :

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

Genetic Disorders of Man

Genetic Disorders of Man Book
Author : Richard Merle Goodman
Publisher : Unknown
Release : 1970
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genetic Disorders of Man book written by Richard Merle Goodman, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Autosomal Dominant Polycystic Kidney Disease

Autosomal Dominant Polycystic Kidney Disease Book
Author : A. Sessa
Publisher : S Karger Ag
Release : 1995
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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.

Biomarkers in Kidney Disease

Biomarkers in Kidney Disease Book
Author : Vinood B. Patel
Publisher : Springer
Release : 2016-03-11
ISBN : 9789400776982
Language : En, Es, Fr & De

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Book Description :

In the past decade there has been a major sea change in the way disease is diagnosed and investigated due to the advent of high throughput technologies, such as microarrays, lab on a chip, proteomics, genomics, lipomics, metabolomics etc. These advances have enabled the discovery of new and novel markers of disease relating to autoimmune disorders, cancers, endocrine diseases, genetic disorders, sensory damage, intestinal diseases etc. In many instances these developments have gone hand in hand with the discovery of biomarkers elucidated via traditional or conventional methods, such as histopathology or clinical biochemistry. Together with microprocessor-based data analysis, advanced statistics and bioinformatics these markers have been used to identify individuals with active disease or pathology as well as those who are refractory or have distinguishing pathologies. New analytical methods that have been used to identify markers of disease and is suggested that there may be as many as 40 different platforms. Unfortunately techniques and methods have not been readily transferable to other disease states and sometimes diagnosis still relies on single analytes rather than a cohort of markers. There is thus a demand for a comprehensive and focused evidenced-based text and scientific literature that addresses these issues. Hence the formulation of Biomarkers in Disease. The series covers a wide number of areas including for example, nutrition, cancer, endocrinology, cardiology, addictions, immunology, birth defects, genetics, and so on. The chapters are written by national or international experts and specialists.

The Encyclopedia of Genetic Disorders and Birth Defects

The Encyclopedia of Genetic Disorders and Birth Defects Book
Author : James Wynbrandt,Mark D. Ludman
Publisher : Infobase Publishing
Release : 2009-01-01
ISBN : 1438120958
Language : En, Es, Fr & De

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Book Description :

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.

Tubulointerstitial Nephritis

Tubulointerstitial Nephritis Book
Author : Mohamed G. Atta,Mark A. Perazella
Publisher : Springer Nature
Release : 2022-03-22
ISBN : 3030934381
Language : En, Es, Fr & De

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Book Description :

This book provides comprehensive, cutting-edge scientific data on acute and chronic tubulointerstitial nephritis, an area that has not been fully addressed in many nephrology textbooks. This book covers all relevant aspects of the disease, from historical aspects and pathogenesis to diagnosis, pathological findings, treatment, and prognosis and outcomes. The chapters also discuss both immune and non-immune mediated forms of the disease, as well as entities causing tubulointerstitial disease such as medications and toxins, infectious agents, autoimmune diseases, transplant rejection, genetic diseases, infiltrative disease and chronic kidney disease of unknown etiology. The text features up-to-date educational materials that will benefit both basic and clinical scientists. Written by experts in the field, Tubulointerstitial Nephritis is a valuable resource for clinicians, practitioners, researchers and trainees working in the field of nephrology and internal medicine.

Gene Therapy for Renal Diseases and Transplantation

Gene Therapy for Renal Diseases and Transplantation Book
Author : Ariela Benigni,Giuseppe Remuzzi
Publisher : Karger Medical and Scientific Publishers
Release : 2008-01-01
ISBN : 3805585055
Language : En, Es, Fr & De

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Book Description :

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.

Genetic Kidney Diseases

Genetic Kidney Diseases Book
Author : Tobias Huber
Publisher : Unknown
Release : 2017
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genetic Kidney Diseases book written by Tobias Huber, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Diagnostic Pathology Kidney Diseases E Book

Diagnostic Pathology  Kidney Diseases E Book Book
Author : Matthew R Lindberg,Anthony Chang
Publisher : Elsevier Health Sciences
Release : 2019-05-24
ISBN : 0323711502
Language : En, Es, Fr & De

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Book Description :

Comprehensive and up to date, the third edition of Diagnostic Pathology: Kidney Diseases, written by Robert B. Colvin, MD and Anthony Chang, MD, expertly covers all aspects of common and rare renal diseases and their variants. This easy-to-use, point-of-care reference offers a state-of-the-art, concise presentation of major pathological, clinical, pathophysiological, and genetic information for more than 240 diagnoses, making it an ideal resource for pathologists and nephrologists to improve knowledge and skills. Significantly revised information throughout ensures that you remain current with everything new regarding the pathology and pathogenesis of nonneoplastic kidney diseases. New content with over 20 new chapters covering idiopathic non-lupus full-house nephropathy, hemophagocytic glomerulonephritis, cryofibrinogenemic glomerulopathy, metabolic syndrome and obesity-related glomerular disease, Whipple disease, systemic Castleman disease, nephropathies due to direct acting antivirals for HCV, checkpoint inhibitors, EGFR antagonists, illicit drugs and opioids, Tums glomerulopathy, vancomycin-induced cast nephropathy, transcript analysis of renal biopsies, new forms of amyloidosis, and mass spectroscopy Updated and validated pathologic classifications systems reflect details on new genetic, therapeutic, and pathologic information, including IgA nephropathy, lupus nephritis, vasculitis, and transplant pathology More than 3,300 outstanding, annotated images, including gross and microscopic pathology, a wide range of stains, and detailed medical illustrations, make this an invaluable diagnostic aid for every practicing pathologist, nephrologist, resident, or fellow Time-saving reference features include consistently templated chapters, bulleted text, a variety of test data tables, key facts in each chapter, annotated images, and an extensive index Internationally recognized authors, many new to this edition, provide fresh perspectives on multiple topics, with a particular emphasis on practical information that directly assists in making and supporting a diagnosis Enhanced eBook version included with purchase, which allows you to access all of the text, figures, and references from the book on a variety of devices

Stem Cells in Modeling Human Genetic Diseases

Stem Cells in Modeling Human Genetic Diseases Book
Author : Mayana Zatz,Oswaldo Keith Okamoto
Publisher : Springer
Release : 2015-08-11
ISBN : 3319183141
Language : En, Es, Fr & De

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Book Description :

While most stem cell books focus on basic aspects and/or cell therapy, this book emphasizes the relevance of stem cells obtained from patients, the so-called “patients in a petri dish” as tools to investigate human genetic diseases for which there are no available effective treatment. Chapters embrace several examples of the use of iPS cell technology, a recent Nobel Prize-winning scientific breakthrough, to obtain patient-specific pluripotent cells from which many types of specialized cells involved in a particular disease can be generated, including psychiatric and neurodegenerative disorders, muscular dystrophies, laminopathies, among others. The text is a current and timely resource for postgraduate students, scientists and clinicians, interested in applications of this rapidly developing field of research in disease modeling, drug development, and emerging issues that it brings to regenerative medicine.

Cystic Diseases of the Kidney

Cystic Diseases of the Kidney Book
Author : Kenneth D. Gardner
Publisher : John Wiley & Sons
Release : 1976
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Cystic Diseases of the Kidney book written by Kenneth D. Gardner, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.