Molecular and Genetic Basis of Renal Disease Book

Molecular and Genetic Basis of Renal Disease


  • Author : David B. Mount
  • Publisher : Elsevier Health Sciences
  • Release Date : 2008
  • Genre: Medical
  • Pages : 582
  • ISBN 10 : 9781416002529

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Molecular and Genetic Basis of Renal Disease Excerpt :

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 Book

The Kidney


  • Author : Peter D. Vize
  • Publisher : Elsevier
  • Release Date : 2003-03-14
  • Genre: Science
  • Pages : 592
  • ISBN 10 : 0080521541

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The Kidney Excerpt :

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 Book

Genetic Diseases of the Kidney


  • Author : Richard P. Lifton
  • Publisher : Academic Press
  • Release Date : 2009-02-25
  • Genre: Science
  • Pages : 848
  • ISBN 10 : 0080924271

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Genetic Diseases of the Kidney Excerpt :

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)

The Molecular and Genetic Basis of Neurologic and Psychiatric Disease Book

The Molecular and Genetic Basis of Neurologic and Psychiatric Disease


  • Author : Roger N. Rosenberg
  • Publisher : Lippincott Williams & Wilkins
  • Release Date : 2008
  • Genre: Medical
  • Pages : 882
  • ISBN 10 : 0781769566

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The Molecular and Genetic Basis of Neurologic and Psychiatric Disease Excerpt :

Completely updated for its Fourth Edition, this book is the most comprehensive, current review of the molecular and genetic basis of neurologic and psychiatric diseases. More than 120 leading experts provide a fresh, new assessment of recent molecular, genetic, and genomic advances, offer new insights into disease pathogenesis, describe the newest available therapies, and explore promising areas of therapeutic development. This edition features an updated section on psychiatric disease and expanded, updated chapters on human genomics, gene therapy, and ethical issues. Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. A Neurologic Gene Map describes the chromosome locus of all the genetic diseases and their gene product where known. The fully searchable online text will be available on a companion Website. (www.rosenbergneuroandpsychdisease.com)

Cystogenesis Book

Cystogenesis


  • Author : Jong Hoon Park
  • Publisher : Springer
  • Release Date : 2016-10-12
  • Genre: Medical
  • Pages : 126
  • ISBN 10 : 9789811020414

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Cystogenesis Excerpt :

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.

Genetics of Bone Biology and Skeletal Disease Book

Genetics of Bone Biology and Skeletal Disease


  • Author : Rajesh V. Thakker
  • Publisher : Academic Press
  • Release Date : 2012-12-31
  • Genre: Medical
  • Pages : 634
  • ISBN 10 : 9780123878304

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Genetics of Bone Biology and Skeletal Disease Excerpt :

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.

Kidney Development  Disease  Repair and Regeneration Book

Kidney Development Disease Repair and Regeneration


  • Author : Melissa Helen Little
  • Publisher : Academic Press
  • Release Date : 2015-08-06
  • Genre: Medical
  • Pages : 614
  • ISBN 10 : 9780128004388

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Kidney Development Disease Repair and Regeneration Excerpt :

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 Book

Small Molecule Therapy for Genetic Disease


  • Author : Jess G. Thoene
  • Publisher : Cambridge University Press
  • Release Date : 2010-08-23
  • Genre: Medical
  • Pages : 238
  • ISBN 10 : 9780521517812

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Small Molecule Therapy for Genetic Disease Excerpt :

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 Book

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
  • Publisher : Unknown
  • Release Date : 1993
  • Genre: United States
  • Pages : null
  • ISBN 10 : STANFORD:36105119594690

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

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

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
  • Publisher : Unknown
  • Release Date : 1993
  • Genre: United States
  • Pages : null
  • ISBN 10 : UCR:31210009487883

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

Practical Renal Pathology  A Diagnostic Approach E Book Book

Practical Renal Pathology A Diagnostic Approach E Book


  • Author : Donna J. Lager
  • Publisher : Elsevier Health Sciences
  • Release Date : 2012-11-07
  • Genre: Medical
  • Pages : 400
  • ISBN 10 : 9781455737864

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Practical Renal Pathology A Diagnostic Approach E Book Excerpt :

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.

Genetics for Rheumatologists Book

Genetics for Rheumatologists


  • Author : Matthew A. Brown
  • Publisher : Remedica
  • Release Date : 2002
  • Genre: Medical
  • Pages : 226
  • ISBN 10 : 9781901346312

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Genetics for Rheumatologists Excerpt :

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 Book

Molecular Pathology


  • Author : William B. Coleman
  • Publisher : Academic Press
  • Release Date : 2017-11-09
  • Genre: Medical
  • Pages : 802
  • ISBN 10 : 9780128027875

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Molecular Pathology Excerpt :

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

Absolute Nephrology Review Book

Absolute Nephrology Review


  • Author : Alluru S. Reddi
  • Publisher : Springer Nature
  • Release Date : 2022-01-27
  • Genre: Medical
  • Pages : 622
  • ISBN 10 : 9783030859589

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Absolute Nephrology Review Excerpt :

Written in a succinct question and answer format, this comprehensive book is a resource on all areas of nephrology and common clinical scenarios. The updated volume covers the basic physiology of fluids, electrolytes and acid-base problems, renal disorders and management, chronic kidney disease, hypertension, and other essential subjects. The nearly 1000 detailed questions and answers prepare readers for nephrology and internal medicine boards and provide a better understanding of nephrology as a whole. This new edition of Absolute Nephrology Review features the latest evidence and guidelines needed by nephrology fellows, practicing nephrologists, and clinicians.

Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease Book

Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease


  • Author : Roger N. Rosenberg
  • Publisher : Academic Press
  • Release Date : 2020-06-24
  • Genre: Medical
  • Pages : 1012
  • ISBN 10 : 9780128139561

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Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease Excerpt :

Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Sixth Edition: Volume One, provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Provides a detailed introduction on both the clinical and basic research implications of molecular and genetics surrounding the brain Includes new chapters on molecular genomics, CRISPR and the most recent updates in molecular genetics