Molecular And Genetic Basis Of Renal Disease PDF Download
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| Author | : David B. Mount |
| Publisher | : Elsevier Health Sciences |
| Total Pages | : 604 |
| Release | : 2008-01-01 |
| Genre | : Medical |
| ISBN | : 1416002529 |
Download Molecular and Genetic Basis of Renal Disease Book in PDF, ePub and Kindle
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 |
| Total Pages | : 126 |
| Release | : 2016-10-12 |
| Genre | : Medical |
| ISBN | : 9811020418 |
Download Cystogenesis Book in PDF, ePub and Kindle
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 |
| Total Pages | : 534 |
| Release | : 2003-03-14 |
| Genre | : Science |
| ISBN | : 0080521541 |
Download The Kidney Book in PDF, ePub and Kindle
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 | : Frances Flinter |
| Publisher | : |
| Total Pages | : 600 |
| Release | : 2003 |
| Genre | : Genetic disorders |
| ISBN | : |
Download The Genetics of Renal Disease Book in PDF, ePub and Kindle
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 | : William B. Coleman |
| Publisher | : Academic Press |
| Total Pages | : 802 |
| Release | : 2017-11-09 |
| Genre | : Medical |
| ISBN | : 0128027878 |
Download Molecular Pathology Book in PDF, ePub and Kindle
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 | : Neal Halfon |
| Publisher | : Springer |
| Total Pages | : 667 |
| Release | : 2017-11-20 |
| Genre | : Medical |
| ISBN | : 3319471430 |
Download Handbook of Life Course Health Development Book in PDF, ePub and Kindle
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.
| Author | : Zulkar Nain |
| Publisher | : Createspace Independent Publishing Platform |
| Total Pages | : 62 |
| Release | : 2016-08-31 |
| Genre | : |
| ISBN | : 9781537283111 |
Download Genetic Anomalies in Kidney Book in PDF, ePub and Kindle
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 | : Neil N. Turner |
| Publisher | : Oxford University Press |
| Total Pages | : 3045 |
| Release | : 2015-10-29 |
| Genre | : Medical |
| ISBN | : 0191017655 |
Download Oxford Textbook of Clinical Nephrology Book in PDF, ePub and Kindle
This fourth edition of the Oxford Textbook of Clinical Nephrology builds on the success and international reputation of the publication as an important resource for the practising clinician in the field. It provides practical, scholarly, and evidence-based coverage of the full spectrum of clinical nephrology, written by a global faculty of experts. The most relevant and important reference to clinical nephrology, this is an authoritative and comprehensive textbook combining the clinical aspects of renal disease essential to daily clinical practice with extensive information about the underlying basic science and current evidence available. Each section of the textbook has been critically and comprehensively edited under the auspices of a leading expert in the field. This new edition has been significantly expanded and reapportioned to reflect developments and new approaches to topics, and includes treatment algorithms to aid and enhance patient care where possible. The fourth edition offers increased focus on the medical aspects of transplantation, HIV-associated renal disease, and infection and renal disease, alongside entirely new sections on genetic topics and clinical and physiological aspects of fluid/electrolyte and tubular disorders. The emphasis throughout is on marrying advances in scientific research with clinical management. Richly illustrated throughout in full colour, this is a truly modern and attractive edition which reinforces the Oxford Textbook of Clinical Nephrology's position as an indispensable reference work of consistent quality and reliability. Enriched and refined by careful revision, this new edition continues the tradition of excellence. This print edition of The Oxford Textbook of Clinical Nephrology comes with a year's access to the online version on Oxford Medicine Online. By activating your unique access code, you can read and annotate the full text online, follow links from the references to primary research materials, and view, enlarge and download all the figures and tables. Oxford Medicine Online is mobile optimized for access when and where you need it.
| Author | : Melissa Helen Little |
| Publisher | : Academic Press |
| Total Pages | : 614 |
| Release | : 2015-08-06 |
| Genre | : Medical |
| ISBN | : 012800438X |
Download Kidney Development, Disease, Repair and Regeneration Book in PDF, ePub and Kindle
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 | : Charles J. Epstein |
| Publisher | : Oxford University Press, USA |
| Total Pages | : 1110 |
| Release | : 2004 |
| Genre | : Medical |
| ISBN | : 019514502X |
Download Inborn Errors of Development Book in PDF, ePub and Kindle
In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.
