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Author: David B. Mount
Publisher: Elsevier Health Sciences
ISBN: 1416002529
Category : Medical
Languages : en
Pages : 604
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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.
Author: David B. Mount
Publisher: Elsevier Health Sciences
ISBN: 1416002529
Category : Medical
Languages : en
Pages : 604
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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.
Author: Jong Hoon Park
Publisher: Springer
ISBN: 9811020418
Category : Medical
Languages : en
Pages : 126
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Book Description
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.
Author: Peter D. Vize
Publisher: Elsevier
ISBN: 9780080521541
Category : Science
Languages : en
Pages : 592
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Book Description
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
Author: Richard P. Lifton
Publisher: Academic Press
ISBN: 0080924271
Category : Science
Languages : en
Pages : 895
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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)
Author: William B. Coleman
Publisher: Academic Press
ISBN: 0128027878
Category : Medical
Languages : en
Pages : 802
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Book Description
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
Author: Frances Flinter
Publisher:
ISBN:
Category : Genetic disorders
Languages : en
Pages : 600
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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.
Author: Christopher J. Payne
Publisher: BoD – Books on Demand
ISBN: 9535113631
Category : Medical
Languages : en
Pages : 222
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Book Description
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.
Author: Melissa Helen Little
Publisher: Academic Press
ISBN: 012800438X
Category : Medical
Languages : en
Pages : 614
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Book Description
Kidney Development, Disease, Repair and Regeneration focuses on the molecular and cellular basis of kidney development, exploring the origins of kidney lineages, the development of kidney tissue subcompartments, as well as the genetic and environmental regulation of kidney development. Special coverage is given to kidney stem cells and possible steps towards kidney repair and regeneration. Emphasis is placed on the fetal origins of postnatal renal disease and our current understanding of the molecular basis of damage and repair. Biomedical researchers across experimental nephrology and developmental biology will find this a key reference for learning how the underlying developmental mechanisms of the kidney will lead to greater advances in regenerative medicine within nephrology. Offers researchers a single comprehensive resource written by leaders from both the developmental biology and the experimental nephrology communities Focuses on understanding the molecular basis of organogenesis in the kidney as well as how this can be affected both genetically and environmentally Explains the underlying developmental mechanisms which influence the kidney’s inherent repair capacity Demonstrates how a deeper understanding of mechanisms will lead to greater advances in regenerative medicine
Author: Zulkar Nain
Publisher: Createspace Independent Publishing Platform
ISBN: 9781537283111
Category :
Languages : en
Pages : 62
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Book Description
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.
Author: Ronald M. Bukowski
Publisher: Springer Science & Business Media
ISBN: 1592592295
Category : Medical
Languages : en
Pages : 488
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Book Description
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.
