Protein Dysfunction in Human Genetic Disease PDF Download
Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Protein Dysfunction in Human Genetic Disease PDF full book. Access full book title Protein Dysfunction in Human Genetic Disease by D M Swallow. Download full books in PDF and EPUB format.
Author: D M Swallow
Publisher: Taylor & Francis
ISBN: 104028227X
Category : Medical
Languages : en
Pages : 372
Get Book Here
Book Description
Recent years have seen rapid advances in our understanding of genetic diseases in terms of their molecular origins. The book focuses on DNA mutations which give rise to abnormalities of protein structure and function in genetic disease.
Author: D M Swallow
Publisher: Taylor & Francis
ISBN: 104028227X
Category : Medical
Languages : en
Pages : 372
Get Book Here
Book Description
Recent years have seen rapid advances in our understanding of genetic diseases in terms of their molecular origins. The book focuses on DNA mutations which give rise to abnormalities of protein structure and function in genetic disease.
Author: Richard P. Lifton
Publisher: Academic Press
ISBN: 0080924271
Category : Science
Languages : en
Pages : 895
Get Book Here
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)
![Encyclopedia of Human Genetics and Disease [2 volumes] PDF](https://books.google.com/books/content/images/frontcover/XxfOEAAAQBAJ?fife=w80-h100)
Author: Evelyn B. Kelly
Publisher: Bloomsbury Publishing USA
ISBN: 0313387141
Category : Science
Languages : en
Pages : 993
Get Book Here
Book Description
This two-volume encyclopedia examines the history, characteristics, causes, and treatment of genetic disease, as well as the science of genetics itself. Modern science has unlocked many of the mysteries of genetics, providing a blueprint for understanding the origins behind previously mysterious ailments and conditions, both common and uncommon. A complete understanding remains elusive, however: geneticists are still refining theories about what causes chromosomes to mutate, and genetic diseases remain difficult to diagnose and challenging to treat. This fascinating reference explores the scientific and human aspects of this complex field of science. Encyclopedia of Human Genetics and Disease features nearly 400 entries, including well-known genetic diseases, rare and lesser-known genetic diseases, and the genetic factors that may contribute to common diseases and health conditions, such as breast cancer and obesity. The author presents in-depth discussions of concepts essential to understanding genetic disease in 18 entries that provide background on key topics, such as "Genetics 101," the genome and the foundations of genetics, genetic counseling, and newborn screening. Each of the 355 disorders profiled provides the history of the condition, its prevalence, causes, treatment (if any), and further reading. Interesting sidebars and compelling photos that help inform content accompany many entries.
Author: Dhavendra Kumar
Publisher: Springer Science & Business Media
ISBN: 140202231X
Category : Medical
Languages : en
Pages : 611
Get Book Here
Book Description
The Indian subcontinent is a vast land mass inhabited by over one billion people. Its rich and varied history is reflected by its numerous racial and ethnic groups and its distinct religious, cultural and social characteristics. Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease, for example. Indeed, as we move into the new millennium India has become a land of opposites; on the one hand there is still extensive poverty yet, on the other hand, some of the most remarkable developments in commerce and technology in Asia are taking place, notably in the fields of information technology and biotechnology. India has always fascinated human geneticists and a considerable amount of work has been done towards tracing the origins of its different ethnic groups. In the current excitement generated by the human genome project and the molecular and genetic approach to the study of human disease, there is little doubt that this field will develop and flourish in India in the future. Although so far there are limited data about genetic diseases in India, enough is known already to suggest that this will be an extremely fruitful area of research.
Author: Julian C. Knight
Publisher: OUP Oxford
ISBN: 0191572586
Category : Science
Languages : en
Pages : 501
Get Book Here
Book Description
The secrets of our genetic heritage are finally being unlocked. The massive scientific effort to sequence the human genome is in fact just the beginning of a long journey as the extraordinary genetic diversity that exists between individuals becomes clear. Work in this field promises much: to understand our evolutionary origins, to define us as individuals, to predict our risk of disease and to more effectively understand, treat and prevent illness. Contemporary genetic research is allowing the basis of both rare inherited disorders and common multifactorial diseases like asthma and diabetes to be more clearly defined. Huge investments are being made and great advances have been achieved, but the challenges remain daunting. This book provides an authoritative overview of this topical and very rapidly advancing field of biomedical research. Human Genetic Diversity describes the major classes of genetic variation and their functional consequences. A combination of cutting-edge research and landmark historical studies illustrate developments in the field, the rationale for current studies and likely future directions. Major structural variants at a chromosomal level are described, as well as copy number variation and sequence level genetic diversity. Evidence of selective pressures in human populations and insights into human evolution are illustrated. The book describes the development of linkage analysis and more recently genome-wide association studies to define the genetic basis of disease, current approaches to defining functional causative variants and the emerging fields of pharmacogenomics and individualised medicine.
Author: Aubrey Milunsky
Publisher: Springer Science & Business Media
ISBN: 1468451553
Category : Medical
Languages : en
Pages : 910
Get Book Here
Book Description
About 21 years ago prenatal diagnosis became part of the physician's diagnostic armamentarium against genetic defects. My first monograph in 1973 (The Prenatal Diagnosis of Hereditary Disorders) critically assessed early progress and enunciated basic principles in the systematic approach to prenatal genetic diagnosis. Six years later and under the current title, a subsequent volume provided the first major reference source on this subject. The present second (effectively third) edition, which was urged in view of the excellent reception of the two earlier volumes, reflects the remarkable growth of this new discipline and points to significant and exciting future developments. Notwithstanding these advances, the use of the new tools and techniques for the benefit of at-risk parents has taken many more years than most anticipated. Key factors have been the lack of teaching of human genetics in medical schools in the preceding decades and the difficulty of educating practicing physicians in a new scientific disci pline. Even today the teaching of genetics in medical schools leaves much to be desired and this will further delay the introduction of newer genetic advances to the bedside.
Author: Kenneth M. Weiss
Publisher: Cambridge University Press
ISBN: 9780521336604
Category : Medical
Languages : en
Pages : 384
Get Book Here
Book Description
Recent developments in molecular and computational methods have made it possible to identify the genetic basis of any biological trait, and have led to spectacular advances in the study of human disease. This book provides an overview of the concepts and methods needed to understand the genetic basis of biological traits, including disease, in humans. Using examples of qualitative and quantitative phenotypes, Professor Weiss shows how genetic variation may be quantified, and how relationships between genotype and phenotype may be inferred. This book will appeal to many biologists and biological anthropologists interested in the genetic basis of biological traits, as well as to epidemiologists, biomedical scientists, human geneticists and molecular biologists.
Author: Alan Wright
Publisher: Cambridge University Press
ISBN: 0521833396
Category : Medical
Languages : en
Pages : 525
Get Book Here
Book Description
This book examines the role of genetics in modern medicine, reflecting the strengths and limitations of a genetic perspective.
Author: I. Rasko
Publisher: Springer Science & Business Media
ISBN: 9780412373404
Category : Medical
Languages : en
Pages : 436
Get Book Here
Book Description
This stimulating book bridges the gap between molecular biology and human genetics. Specifically written for medical students and human geneticists, it is a valuable guide to a rapidly moving field.
Author: Rob Elles
Publisher: Springer Science & Business Media
ISBN: 1592594328
Category : Medical
Languages : en
Pages : 392
Get Book Here
Book Description
This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
