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: Ajit Varki
Publisher: CSHL Press
ISBN: 9780879696818
Category : Medical
Languages : en
Pages : 694
Get Book Here
Book Description
Sugar chains (glycans) are often attached to proteins and lipids and have multiple roles in the organization and function of all organisms. "Essentials of Glycobiology" describes their biogenesis and function and offers a useful gateway to the understanding of glycans.
Author: Edward F. McCarthy
Publisher: Cambridge University Press
ISBN: 1107041236
Category : Medical
Languages : en
Pages : 385
Get Book Here
Book Description
Fully updated new edition covering all aspects of bone and joint diseases in one easily readable volume. Color illustrations throughout.
Author: B.A. Ponder
Publisher: Springer Science & Business Media
ISBN: 9401106770
Category : Medical
Languages : en
Pages : 222
Get Book Here
Book Description
It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.
Author: D.M. Swallow
Publisher:
ISBN: 9780122204449
Category : Medical
Languages : en
Pages : 272
Get Book Here
Book Description
Comprehensive coverage of human genetic disease mechanisms. Describes important models of protein dysfunction in human genetic disease. Many of our genes have now been identified and sequenced, and genetic disease can be described in terms of DNA sequence. Research endeavors are now aimed at understanding the structure and function of the protein products of disease genes. Analysis of protein malfunctions in genetic diseases provides an invaluable approach to this undertaking. Protein Dysfunction in Human Genetic Disease focuses on DNA mutations which give rise to abnormalities in protein structure and function. Authoritative reviews of specific proteins or protein complexes illustrate how mutations which interfere with protein-protein interactions, ligand and substrate binding, secretion, membrane assembly, intracellular localization and transport, or post-translational processing underlie the disease process. Genetic and biochemical perspectives are both emphasized in Protein Dysfunction in Human Genetic Disease. The chapters provide general models for the guidance of researchers who are looking for a function for their disease protein or are seeking to explain a clinical phenotype. This book will also benefit final year and postgraduate students of genetics and biochemistry, and interest all who are curious about protein function. Key Features * Comprehensive coverage of human genetic disease mechanisms * Describes important models of protein dysfunction in human genetic disease
Author: Anthony J. Hannan
Publisher: Springer Science & Business Media
ISBN: 1461454344
Category : Medical
Languages : en
Pages : 223
Get Book Here
Book Description
This book addresses the role of tandem repeat polymorphisms (TRPs) in genetic plasticity, evolution, development, biological processes, neural diversity, brain function, dysfunction and disease. There are hundreds of thousands of unique tandem repeats in the human genome and their polymorphic distributions have the potential to greatly influence functional diversity and disease susceptibility. Recent discoveries in this expanding field are critically reviewed and discussed in a range of subsequent chapters, with a focus on the role of TRPs and their various gene products in evolution, development, diverse molecular and cellular processes, brain function and disease.
Author: Paolo Sassone-Corsi
Publisher: Springer
ISBN: 3319270699
Category : Medical
Languages : en
Pages : 141
Get Book Here
Book Description
Recent years have seen spectacular advances in the field of circadian biology. These have attracted the interest of researchers in many fields, including endocrinology, neurosciences, cancer, and behavior. By integrating a circadian view within the fields of endocrinology and metabolism, researchers will be able to reveal many, yet-unsuspected aspects of how organisms cope with changes in the environment and subsequent control of homeostasis. This field is opening new avenues in our understanding of metabolism and endocrinology. A panel of the most distinguished investigators in the field gathered together to discuss the present state and the future of the field. The editors trust that this volume will be of use to those colleagues who will be picking up the challenge to unravel how the circadian clock can be targeted for the future development of specific pharmacological strategies toward a number of pathologies.
Author: Bruce R. Korf
Publisher: John Wiley & Sons
ISBN: 1118537661
Category : Medical
Languages : en
Pages : 280
Get Book Here
Book Description
This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
Author: Kevin L. Kirk
Publisher: Springer Science & Business Media
ISBN: 9780306478376
Category : Science
Languages : en
Pages : 236
Get Book Here
Book Description
The CFTR chloride channel is one of the most well studied transport proteins in biology. Yet there remain many mysteries about the functional properties and biological roles of this ABC transporter. The Cystic Fibrosis Transmembrane Conductance Regulator addresses a select series of `hot' topics that relate to the function of CFTR, and the links between CFTR dysfunction and human disease (i.e., cystic fibrosis). The timeliness of these topics distinguishes this collection from previous volumes of this type. Given the general interest in CFTR, this collection will appeal to a broad readership with interests in CFTR, cystic fibrosis, ion channels and ABC transporters.
Author:
Publisher: Academic Press
ISBN: 0080923100
Category : Science
Languages : en
Pages : 168
Get Book Here
Book Description
Ion channel dysfunction in humans leads to impairment of the excitable processes necessary for the normal function of several tissues, such as muscle and brain. It follows that an increasing number of human diseases have been associated with malfunctioning ion channels, many of which have a genetic component. This volume of Advances in Genetics presents a broad and comprehensive overview of the inherited channelopathies in humans, including clinical, genetic and molecular aspects of these conditions. Keeping true to the scope of the serial, novel genomic and modeling research approaches and a review of potential therapeutic approaches for each of these conditions are also incorporated.
