Molekulare Humangenetik


Author: Tom Strachan,Andrew P. Read

Publisher: Spektrum Akademischer Verlag

ISBN: 9783827414939

Category: Science

Page: 802

View: 1306

Die vorliegende 3. Auflage der Molekularen Humangenetik ist völlig neu überarbeitet - unter Berücksichtigung der Entdeckungen, die im Zuge und in der Folge des Human Genome Project gemacht wurden. Die einführenden Kapitel (Teil I) beschreiben die Grundlagen wie DNA-Struktur und -Funktion, Chromosomen, Zellen und Entwicklung, Stammbaumanalysen und grundlegende Techniken im Labor. In Teil II werden die verschiedenen Genomsequenzierungsprojekte und die dadurch ermöglichten Einblicke in Organisation, Expression, Variabilität und Evolution des menschlichen Genoms gezeigt. Die Kartierung, Identifizierung und Diagnose der Ursachen von mendelnden und komplexen Krankheiten sowie Krebs ist Schwerpunkt von Teil III. Der letzte Teil gibt Ausblicke auf die funktionelle Genomik und Bioinformatik, auf Tiermodelle und Therapien. Das Buch soll eine Brücke bilden zwischen den grundlegenden Lehrbüchern und der Forschungsliteratur, sodass auch Interessierte mit relativ wenig Hintergrundwissen zum Thema die neuesten Forschungsergebnisse lesen und beurteilen können.

Human Molecular Genetics


Author: Tom Strachan,Andrew Read

Publisher: Garland Science

ISBN: 1136844074

Category: Science

Page: 782

View: 8820

Human Molecular Genetics is an established and class-proven textbook for upper-level undergraduates and graduate students which provides an authoritative and integrated approach to the molecular aspects of human genetics. While maintaining the hallmark features of previous editions, the Fourth Edition has been completely updated. It includes new Key Concepts at the beginning of each chapter and annotated further reading at the conclusion of each chapter, to help readers navigate the wealth of information in this subject. The text has been restructured so genomic technologies are integrated throughout, and next generation sequencing is included. Genetic testing, screening, approaches to therapy, personalized medicine, and disease models have been brought together in one section. Coverage of cell biology including stem cells and cell therapy, studying gene function and structure, comparative genomics, model organisms, noncoding RNAs and their functions, and epigenetics have all been expanded.

Human Molecular Genetics


Author: N.A

Publisher: Academic Press

ISBN: 0080536417

Category: Science

Page: 500

View: 4792

Human Molecular Genetics is a practical guide to the applications of molecular biology and genetics techniques to human cells. A wide range of experimental procedures for investigating human genes and genomes are presented. * * Mutation Detection in Human Genes - chemical mismatch cleavage, DNA mini-sequencing, SSCP method, RT-PCR, electrophoretic mobility shift assay (EMSA), protein truncation test, chromosome deletion analysis. * Gene Mapping, Cloning, Sequencing - gene linkage determination, large-capacity cloning system, cDNA isolation, differential display method, primer-based DNA sequencing. * Transcription: Promoters, Transcription Factors, mRNA, - promotor mutation analysis, transcription factor identification, mRNA-protein interaction characterization. * RNA Editing, Ribozymes, Antisense RNA-mammalian RNA editing assays, ribozymes as genetic tools, antisense RNA technology. * Genome Recombination, Amplification - recombination assays for mammalian cells, gene amplification measurement. * Receptors, Signal Transduction - intra-cellular receptor characterization, analysis of signal transduction genes. * The Mouse as a Model System for Human Molecular Genetics - mouse genome methods (mouse crosses, somatic cell hybrids, YACs), mouse model for cardiovascular disease.

An Introduction to Human Molecular Genetics

Mechanisms of Inherited Diseases


Author: Jack J. Pasternak

Publisher: John Wiley & Sons

ISBN: 047171917X

Category: Science

Page: 656

View: 2520

An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.

Protocols in Human Molecular Genetics


Author: Christopher G. Mathew

Publisher: Springer Science & Business Media

ISBN: 1592594964

Category: Science

Page: 461

View: 1673

Protocols in Human Molecular Genetics highlights the tremendous advances in our ability to work on the human genome that have emerged in the past few years. The latest techniques are set forth in the clear, concise, easy-to-follow format that is the hallmark of Humana's Methods in Molecular Biology series. Nearly two-thirds of the book is devoted to describing practical procedures comprising the widest range of new methodologies in human molecular genetics, with the rest focusing on their specific experimental and clinical applications. An essential tool for everyone - whether novice or seasoned expert - involved in the rapidly growing area of human genome studies.

Human Molecular Genetics


Author: Peter Sudbery

Publisher: Pearson Education

ISBN: 9780130428110

Category: Science

Page: 364

View: 3071

This second edition of Human Molecular Genetics continues to provide a clear introduction to this complex and fast moving field. Now updated and revised throughout, the material covered has been carefully selected and structured to provide a concise overview for students studying the subject as part of a general biology, genetics or medical degree. A milestone in science has been reached through the publication of draft sequences of the human genome and this is reflected in changes to the book. A new chapter details the methodology used, what was revealed about genome structure and evolution and how the genome sequence will be exploited in diagnosing and treating common diseases. The chapter on complex diseases has also been completely rewritten to reflect new strategies for searching for the genes involved in such disorders. Finally, the human genome project has opened up new prospects in population genetics and evolution and these are discussed in a rewritten chapter. Features * Concise, up-to-date introduction to the subject *Newchapters on sequencing and structure of the human genome *Newchapter on complex disorders, including population surveys using SNPs *Fully revisedchapter on human population genetics and evolution * Boxed case studies and techniques * Includes important genetic disorders and genetic counselling * References updated through a linked Web site. The text is aimed at courses in Human Genetics, Human Molecular Genetics and The Molecular Basis of Disease taught within Biology, Biochemistry, Biomolecular Sciences, Biomedical Sciences, Genetics and medical and other health-care degrees. Peter Sudbery is Senior Lecturer in Genetics at the Department of Molecular Biology and Biotechnology at the University of Sheffield. The Cell and Molecular Biology series provides introductions to key, exciting areas of cell and molecular biology, stimulating student's imaginations and initiative to bridge the gap between memorising concepts and the active approach needed for research and literature review projects. This active learning series also introduces students to experimental design and information retrieval and analysis, including exploration of the World Wide Web.

Human Molecular Genetics

Biology, Genetics


Author: CTI Reviews

Publisher: Cram101 Textbook Reviews

ISBN: 1478404175

Category: Education

Page: 292

View: 7883

Facts101 is your complete guide to Human Molecular Genetics. In this book, you will learn topics such as as those in your book plus much more. With key features such as key terms, people and places, Facts101 gives you all the information you need to prepare for your next exam. Our practice tests are specific to the textbook and we have designed tools to make the most of your limited study time.

Problems and Solutions for Strachan and Read's Human Molecular Genetics


Author: David Matthes

Publisher: Wiley-Liss

ISBN: 9780471384144

Category: Science

Page: 160

View: 5322

This problems and solutions book, covering the molecular aspects of human genetics, will serve as a companion to the second edition of Strachan and Read's Human Molecular Genetics. There will be 22 chapters divided into seven parts (Fundamentals of genes and chromosomes, Fundamentals of DNA technology, Features of the human genome, Mapping the human genome, Comparative genomics, Human genetic diseases, Dissecting and manipulating genes). Within each chapter, there will be 5 - 10 multi-part open-ended problems, 5-10 review questions, 10 multiple choice questions. Where appropriate bioinformatics questions will also be included. The book will be heavily illustrated consisting of approximately 100 black and white photos and 200 black and white line drawings that will be designed and formatted similarly to its companion textbook. While the problems book is intended as a companion to Human Molecular Genetics it can also be used independently from the textbook by both students and instructors. Where most problems books are priced for students we envision that the book will be purchased most frequently by instructors and thus have priced it accordingly. However it still remains within reach for students who can purchase the textbook and problems book for under $100.00.

Human Molecular Biology

An Introduction to the Molecular Basis of Health and Disease


Author: R. J. Epstein

Publisher: Cambridge University Press

ISBN: 9780521644815

Category: Medical

Page: 623

View: 594

Human Molecular Biology is an introduction to the language of health and disease for the new generation of life scientists and medical students. By integrating cutting-edge molecular genetics and biochemistry with the latest clinical information, the book weaves a pattern which unifies biology with syndromes, genetic pathways with developmental phenotypes, and protein function with drug action. From the origins of life to the present day, a narrative is traced through the workings of genomes, cells and organ systems, culminating in linking of laboratory technologies to future research horizons.

Cracking the Genome

Inside the Race to Unlock Human DNA


Author: Kevin Davies

Publisher: JHU Press

ISBN: 9780801871405

Category: Medical

Page: 327

View: 7400

This newly updated edition sheds light on the secrets of the sequence, highlighting the myriad ways in which genomics will impact human health for generations to come.

Molecular Genetics & Gene Therapy of Cardiovascular Diseases


Author: S. C. Mockrin

Publisher: CRC Press

ISBN: 9780824794088

Category: Science

Page: 616

View: 2778

Provides detailed discussions of the most recent developments in gene mapping and manipulation to improve the diagnosis, detection, prevention, and treatment of various cardiovascular diseases--including hypertension, arrhythmias, inherited cariomyopathies, hyperlipidemia, aortic aneurysms, Marfan syndrome, and myocardial infarction. Written by nearly 50 investigators on the cutting-edge of pioneering research in the field.

Principles of Medical Genetics


Author: Thomas D. Gelehrter,Francis S. Collins,David Ginsburg

Publisher: Lippincott Williams & Wilkins

ISBN: 9780683034455

Category: Medical

Page: 410

View: 1169

Taschenlehrbuch Humangenetik


Author: Jan Diether Murken,Tiemo Grimm,Elke Holinski-Feder,Klaus Zerres

Publisher: Georg Thieme Verlag

ISBN: 3132416894

Category: Medical

Page: 612

View: 448

Ist die Krankheit erblich? Welchem Erbgang folgt sie? In kaum einer anderen Disziplin ist der Entstehungsmechanismus einer Erkrankung für die Betroffenen so wichtig wie in der Humangenetik. In diesem Taschenlehrbuch findest du Antworten auf solche Fragen. - Komplett: Das Buch enthält das gesamte Prüfungswissen im handlichen Taschenbuchformat. Die Schnelllese-Schiene unterstützt dich beim Wiederholen der Inhalte. - Mit starkem Klinikbezug: Die Krankheitsbilder werden zum besseren Verständnis direkt mit den theoretischen Grundlagen beschrieben und sind im Layout hervorgehoben. - Praxisrelevant: Alle wichtigen gentechnischen Methoden sind beschrieben. - Langfristig nützlich: Informationen, die über die reinen Prüfungsinhalte hinausgehen, machen das Buch zu einem ergänzenden Nachschlagewerk für klinische Fächer, z.B. für die Innere Medizin oder die Pädiatrie. Jederzeit zugreifen: Der Inhalt des Buches steht dir ohne weitere Kosten digital in der Wissensplattform eRef zur Verfügung (Zugangscode im Buch). Mit der kostenlosen eRef App hast du zahlreiche Inhalte auch offline immer griffbereit.

Molecular Genetics of Cancer


Author: John Cowell

Publisher: Garland Science

ISBN: 0203450388

Category: Medical

Page: 536

View: 4253

Molecular Genetics of Cancer, Second Edition provides an authoritative and up to date review of the key genes known to be critical in the development or progression of cancer. Throughout the book, scientific advances and their clinical relevance are covered in detail, particularly in the light of findings concerning the inheritance of genes predisposing to tumorigenesis. The book is therefore a valuable source of reference for clinicians and genetic counsellors as well as researchers.

Molecular Genetics of Early Human Development


Author: T. Strachan

Publisher: Bios Scientific Pub Limited


Category: Child development

Page: 265

View: 6172

Aimed at all researchers into human development and the wider medical research audience, this text brings together various strands of the discipline of the molecular genetics of early human development, and provides examples of the approaches being used.

Issues in Genetic Medicine: 2012 Edition


Author: N.A

Publisher: ScholarlyEditions

ISBN: 1481645544

Category: Medical

Page: 678

View: 2595

Issues in Genetic Medicine / 2012 Edition is a ScholarlyEditions™ eBook that delivers timely, authoritative, and comprehensive information about Genetic Research. The editors have built Issues in Genetic Medicine: 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Genetic Research in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Issues in Genetic Medicine: 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at

Molecular Pathology

The Molecular Basis of Human Disease


Author: William B. Coleman,Gregory J. Tsongalis

Publisher: Academic Press

ISBN: 9780123859129

Category: Science

Page: 664

View: 1343

Molecular Pathology: The Molecular Basis of Human Disease provides a current and comprehensive view of the molecular basis and mechanisms of human disease. Combining accepted principles with broader theoretical concepts and with contributions from a group of experts, the book looks into disease processes in the context of traditional pathology and their implications for translational molecular medicine. It also discusses concepts in molecular biology and genetics, recent scientific and technological advances in modern pathology, the concept of ""molecular pathogenesis"" of disease, and how disease evolves from normal cells and tissues due to perturbations in molecular pathways. The book describes the integration of molecular and cellular pathogenesis using a bioinformatics approach and a systems biology approach to disease pathogenesis. It also discusses current and future strategies in molecular diagnosis of human disease, and the impact of molecular diagnosis on treatment decisions and the practice of personalized medicine. This book is a valuable resource for students, biomedical researchers, practicing physician-scientists who undertake disease-related basic science and translational research, and pathology residents and other postdoctoral fellows. * Exam Master® web site will host "Self-assessment" questions that students can use to study for the molecular section of the board exam * Companion Web Site – will host a complete set of PowerPoint slides: to include images from the book and additional images for teaching; course materials; lecture materials * Teaches from the perspective of “integrative systems biology, which encompasses the intersection of all molecular aspects of biology, as applied to understanding human disease * Outlines the principles and practice of molecular pathology * Explains the practice of “molecular medicine and the translational aspects of molecular pathology