Molecular and Genetic Basis of Renal Disease

Molecular and Genetic Basis of Renal Disease
Author: David B. Mount,Martin R. Pollak
Publsiher: Elsevier Health Sciences
Total Pages: 582
Release: 2008
Genre: Medical
ISBN: 9781416002529

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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.

Genetics of Kidney Diseases

Genetics of Kidney Diseases
Author: Harvest F. Gu,Martin H. De Borst
Publsiher: Frontiers Media SA
Total Pages: 135
Release: 2020-05-22
Genre: Electronic Book
ISBN: 9782889637379

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The Kidney

The Kidney
Author: Peter D. Vize,Adrian S. Woolf,Jonathan B.L. Bard
Publsiher: Elsevier
Total Pages: 592
Release: 2003-03-14
Genre: Science
ISBN: 0080521541

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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

Cystogenesis

Cystogenesis
Author: Jong Hoon Park,Curie Ahn
Publsiher: Springer
Total Pages: 126
Release: 2016-10-12
Genre: Medical
ISBN: 9789811020414

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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.

Genetic Diseases of the Kidney

Genetic Diseases of the Kidney
Author: Richard P. Lifton,Stefan Somlo,Gerhard H. Giebisch,Donald W. Seldin
Publsiher: Academic Press
Total Pages: 848
Release: 2009-02-25
Genre: Science
ISBN: 0080924271

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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)

Genetics for Rheumatologists

Genetics for Rheumatologists
Author: Matthew A. Brown,Matthew Brown,Julia L. Newton,B. Paul Wordsworth
Publsiher: Remedica
Total Pages: 226
Release: 2002
Genre: Medical
ISBN: 9781901346312

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Annotation Trainee and practicing rheumatologists The study of disease genetics arguably began in rheumatology, with the description of the hereditary basis of alkaptonuria by Garrod in 1902, and the introduction of the concept of in-born errors of metabolism. A large proportion of the diseases seen by rheumatologists have genetic influences. The dissection of the genetic basis of rheumatic diseases has moved rapidly over the past 15 years. Increasingly, rheumatologists are being asked the question "How likely is it that my children will develop the disease I have?', and about the utility of genetic testing for those diseases. This book is not a hefty tome full of genetics jargon, but a quick reference source for doctors written to help answer those questions.

Molecular Pathology

Molecular Pathology
Author: William B. Coleman,Gregory J. Tsongalis
Publsiher: Academic Press
Total Pages: 802
Release: 2017-11-09
Genre: Medical
ISBN: 9780128027875

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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

Kidney Development Disease Repair and Regeneration

Kidney Development  Disease  Repair and Regeneration
Author: Melissa Helen Little
Publsiher: Academic Press
Total Pages: 614
Release: 2015-08-06
Genre: Medical
ISBN: 9780128004388

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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

Small Molecule Therapy for Genetic Disease

Small Molecule Therapy for Genetic Disease
Author: Jess G. Thoene
Publsiher: Cambridge University Press
Total Pages: 238
Release: 2010-08-23
Genre: Medical
ISBN: 9780521517812

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Thoene summarises the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. This handbook will enable interested clinician scientists to rapidly survey the field, thus ascertaining what has been done as well as future directions for therapeutic research. Its important introductory chapters discuss the infrastructure of the field. The book closely analyses the cofactors used to augment the function of defective enzymes and the compounds that are able to utilise an alternative pathway in order to avoid the consequences of the metabolic block present in the patient. Among other therapies, the authors discuss the use of zinc and tetrathiomolybdate to treat Wilson's disease and the use of cysteamine to treat nephropathic cystinosis.

Departments of Labor Health and Human Services Education and Related Agencies Appropriations for 1994

Departments of Labor  Health and Human Services  Education  and Related Agencies Appropriations for 1994
Author: United States. Congress. House. Committee on Appropriations. Subcommittee on the Departments of Labor, Health and Human Services, Education, and Related Agencies
Publsiher: Unknown
Total Pages: 135
Release: 1993
Genre: United States
ISBN: STANFORD:36105119594690

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Departments of Labor Health and Human Services and Education and Related Agencies Appropriations for Fiscal Year 1994

Departments of Labor  Health and Human Services  and Education  and Related Agencies Appropriations for Fiscal Year 1994
Author: United States. Congress. Senate. Committee on Appropriations. Subcommittee on Departments of Labor, Health and Human Services, Education, and Related Agencies
Publsiher: Unknown
Total Pages: 135
Release: 1993
Genre: United States
ISBN: UCR:31210009487883

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Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease
Author: R. V. Thakker
Publsiher: Academic Press
Total Pages: 621
Release: 2013
Genre: Medical
ISBN: 9780123878298

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This book identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluations of treatments. The book is aimed at all students of bone biology and genetics, and with this in mind, it includes general introductory chapters on genetics and bone biology and more specific disease-orientated chapters, which comprehensively summarize the clinical, genetic, molecular genetic, animal model, functional and molecular pathology, diagnostic, counselling and treatment aspects of each disorder. Saves academic, medical, and pharma researchers time in quickly accessing the very latest details on a broad range of genetic bone issues, as opposed to searching through thousands of journal articles. Provides a common language for bone biologists and geneticists to discuss the development of bone cells and genetics and their interactions in the development of disease Researchers in all areas bone biology and genetics will gain insight into how clinical observations and practices can feed back into the research cycle and will, therefore, be able to develop more targeted genomic and proteomic assays For those clinical researchers who are also MDs, correct diagnosis (and therefore correct treatment) of bone diseases depends on a strong understanding of the molecular basis for the disease.

Polycystic Kidney Disease

Polycystic Kidney Disease
Author: Jinghua Hu,Yong Yu
Publsiher: CRC Press
Total Pages: 346
Release: 2019-11-13
Genre: Medical
ISBN: 9780429888946

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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

Chronic Kidney Disease

Chronic Kidney Disease
Author: Thomas Rath
Publsiher: BoD – Books on Demand
Total Pages: 306
Release: 2018-02-21
Genre: Medical
ISBN: 9789535138433

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Known worldwide, chronic kidney disease (CKD) is a disease that affects up to 4% of the population with increasing figures also in the developing countries. Life expectancy of patients affected by CKD is shortened compared to the overall population, and only a minority of patients reach end-stage renal disease (ESRD) with the need for dialysis or renal transplantation; death overtakes dialysis. In the 13 chapters, this book sheds light on the different aspects related to pathophysiology and clinical aspects of CKD, providing interesting insights into not only inflammation and cardiovascular risk but also the interplay of hormones and the functional aspects of endothelial function. In addition, chapters dealing with genetic aspects of polycystic kidney disease and also the clinical handling of patients with CKD and peritoneal dialysis will be beneficial for the open-minded reader.

Practical Renal Pathology A Diagnostic Approach E Book

Practical Renal Pathology  A Diagnostic Approach E Book
Author: Donna J. Lager,Neil Abrahams
Publsiher: Elsevier Health Sciences
Total Pages: 400
Release: 2012-11-07
Genre: Medical
ISBN: 9781455737864

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Practical Renal Pathology helps you apply a systematic pattern recognition approach to achieve more accurate diagnoses of both neoplastic and non-neoplastic diseases of the kidneys. This volume in the Pattern Recognition Series helps you to efficiently and confidently evaluate even the most challenging histologic specimens. Consult this title on your favorite e-reader with intuitive search tools and adjustable font sizes. Elsevier eBooks provide instant portable access to your entire library, no matter what device you're using or where you're located. Compare your specimens to commonly seen patterns, categorize them accordingly, and turn directly to in-depth diagnostic guidance using the unique, pattern-based Visual Index at the beginning of the book. Assess key pathologic and clinical aspects of both neoplastic and non-neoplastic conditions with over 750 high-quality, full-color images that help you evaluate and interpret biopsy samples. Benefit from expert guidance in key areas such as renal biopsy interpretation, handling of nephrectomy specimens, pathology relevant to renal transplantation, and pathology of unusual renal neoplasms. Progress logically from the histologic pattern, through the appropriate workup, around the pitfalls, to the best diagnosis.