Molecular And Genetic Basis Of Renal Disease
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Molecular And Genetic Basis Of Renal Disease
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Author : David B. Mount
language : en
Publisher: Elsevier Health Sciences
Release Date : 2008-01-01
Molecular And Genetic Basis Of Renal Disease written by David B. Mount and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-01-01 with Medical categories.
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.
The Kidney
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Author : Peter D. Vize
language : en
Publisher: Elsevier
Release Date : 2003-03-14
The Kidney written by Peter D. Vize and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003-03-14 with Science categories.
Organogenesis of the kidney has been intensely studied for over a century. In recent years advances in molecular techniques have not only made great inroads into exploring the genetic regulation of this complex process but also began to unravel the molecular basis of many forms of congenital kidney disease. This book is a comprehensive study on these findings and the only book available with such in depth coverage of the kidney. Hundreds of color figures depicting key events in all aspects of kidney development Full coverage of the genetic and cellular basis of kidney development Analysis of the genetic basis of the major congenital kidney diseases
Genetic Diseases Of The Kidney
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Author : Richard P. Lifton
language : en
Publisher: Academic Press
Release Date : 2009-02-25
Genetic Diseases Of The Kidney written by Richard P. Lifton and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-02-25 with Science categories.
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 Anomalies In Kidney
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Author : Zulkar Nain
language : en
Publisher: Createspace Independent Publishing Platform
Release Date : 2016-08-31
Genetic Anomalies In Kidney written by Zulkar Nain and has been published by Createspace Independent Publishing Platform this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-08-31 with categories.
Being central to renal system, kidney plays the most important role in maintenance of homeostasis. The internal structure of kidney is very sophisticated and acts more like biological membrane which filtrates wastes from blood and discard into urine. Kidney maintain the constancy of water and solutes in the body so that the body can work without any hindrance. The evolution of excretory process was fundamental for living system to exist, which is highly organized into renal system in human. Unfortunately, kidney is neither divine nor fine-tuned, sometimes it undergo poor filtration and faulty regulation due to various dysfunctions and malformations. Dysfunctions of kidney may develop under the influence of external and internal factors which induce the mutation of genes associated with kidney. These dysfunctions and malformations lead to various kidney disease, eventually. Most kidney diseases are not genetically linked but some conditions are linked to genetic makeup of an individual. These genetic dysfunctions are mostly programmed before birth or sometimes, responsible gene could be altered by various factors during the lifetime of an individual. This book is intended to discuss some of the most prominent hereditary kidney diseases, such as Polycystic Kidney Disorder, Alport Syndrome, Bartter Syndrome, etc., on the basis of their inheritance and molecular genetics. Luckily, most of the kidney diseases are curable at present, not so promising though.
Genetics For Pulmonologists
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Author : Jordan Prutkin
language : en
Publisher: Remedica
Release Date : 2002
Genetics For Pulmonologists written by Jordan Prutkin and has been published by Remedica this book supported file pdf, txt, epub, kindle and other format this book has been release on 2002 with Lung Diseases categories.
Our understanding of the relationship between genetics and pulmonary disorders is still evolving. In 1989 cloning of the gene that, when mutated, causes cystic fibrosis marked a great advance in the study of genetic diseases. Yet, over a decade later, understanding of how this genetic defect leads to colonization by bacteria and inflammation in the lung remains elusive.
The Genetics Of Renal Disease
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Author : Frances Flinter
language : en
Publisher:
Release Date : 2003
The Genetics Of Renal Disease written by Frances Flinter and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003 with Genetic disorders categories.
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.
Cystogenesis
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Author : Jong Hoon Park
language : en
Publisher: Springer
Release Date : 2016-10-12
Cystogenesis written by Jong Hoon Park and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-10-12 with Medical categories.
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.
Heptinstall S Pathology Of The Kidney
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Author : J. CHARLES. JENNETTE
language : en
Publisher: LWW
Release Date : 2023-09-08
Heptinstall S Pathology Of The Kidney written by J. CHARLES. JENNETTE and has been published by LWW this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-09-08 with categories.
For nearly 60 years, Heptinstall's Pathology of the Kidney has been the reference of choice for both pathologists and nephrologists for expert, authoritative coverage of kidney disease. The fully revised and reorganized Eighth Edition, edited by Drs. J. Charles Jennette, Vivette D. D'Agati, Agnes B. Fogo, Volker Nickeleit and Michael Barry Stokes offers thorough pathologic descriptions, important clinical correlations, and up-to-date discussions of causes and pathogenesis to improve understanding of kidney disease and to facilitate accurate diagnosis and optimum care of patients with kidney disease. Now in a single volume, this image-rich text conveys the unique challenges and intricacies of renal disease, offering powerful diagnostic and treatment recommendations from decades of clinical research. Features a completely reorganized, single volume format, with more than 60 concise chapters covering all kidney diseases Provides comprehensive yet concise information on pathology, differential diagnosis and clinicopathologic correlations, as well as useful overviews of pathogenesis, demographics/epidemiology, and relevant clinical presentation, treatment, and outcomes Contains numerous diagnostic algorithms throughout Offers clinically oriented, quick-reference content on patterns of injury and classification Enrich Your eBook Reading Experience Read directly on your preferred device(s), such as computer, tablet, or smartphone. Easily convert to audiobook, powering your content with natural language text-to-speech.
Renal Cell Carcinoma
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Author : Ronald M. Bukowski
language : en
Publisher: Springer Science & Business Media
Release Date : 2000-04-10
Renal Cell Carcinoma written by Ronald M. Bukowski and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2000-04-10 with Medical categories.
Renal cell carcinoma represents a heterogeneous group of tumors, the most common of which is clear cell adenocarcinoma. The annual incidence of this tumor appears to be rising and approximately 12,000 individuals die from this cancer annually in the United States. One third of patients who present have metastatic disease at the time of diagnosis, and another 40% who undergo nephrectomy will ultimately develop this complication. Over the past 10 years, a significant amount of new information concerning the epidemiology, mole- lar and immunologic characteristics, and therapy for patients with these tumors has appeared. The recognition that inherited forms of renal cancer exist, and that chromosomal abn- malities can be identified in these tumors, suggested a genetic basis for renal cell carcinoma. The familial cancer syndrome, Von Hippel Lindau disease, provided the setting in which the genetic abnormalites associated with the development of renal cancer were first described. Abnormalities of the VHL gene have also been detected in sporadic clear cell carcinoma, and it has now been recognized that approximately 80 % of these tumors will demonstrate ch- acteristic alterations. Currently the functions of the VHL protein are being investigated, and the biology of clear cell carcinoma of the kidney is under study. Additionally, papillary carcinomas of the kidney appear to express different molecular defects, and these are now being unraveled.
Molecular Pathology
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Author : William B. Coleman
language : en
Publisher: Academic Press
Release Date : 2017-11-09
Molecular Pathology written by William B. Coleman and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-11-09 with Medical categories.
As the molecular basis of human disease becomes better characterized, and the implications for understanding the molecular basis of disease becomes realized through improved diagnostics and treatment, Molecular Pathology, Second Edition stands out as the most comprehensive textbook where molecular mechanisms represent the focus. It is uniquely concerned with the molecular basis of major human diseases and disease processes, presented in the context of traditional pathology, with implications for translational molecular medicine. The Second Edition of Molecular Pathology has been thoroughly updated to reflect seven years of exponential changes in the fields of genetics, molecular, and cell biology which molecular pathology translates in the practice of molecular medicine. The textbook is intended to serve as a multi-use textbook that would be appropriate as a classroom teaching tool for biomedical graduate students, medical students, allied health students, and others (such as advanced undergraduates). Further, this textbook will be valuable for pathology residents and other postdoctoral fellows that desire to advance their understanding of molecular mechanisms of disease beyond what they learned in medical/graduate school. In addition, this textbook is useful as a reference book for practicing basic scientists and physician scientists that perform disease-related basic science and translational research, who require a ready information resource on the molecular basis of various human diseases and disease states. Explores the principles and practice of molecular pathology: molecular pathogenesis, molecular mechanisms of disease, and how the molecular pathogenesis of disease parallels the evolution of the disease Explains the practice of “molecular medicine and the translational aspects of molecular pathology Teaches from the perspective of “integrative systems biology Enhanced digital version included with purchase