Chromosome Biology As A Key To Understand Disease Mechanisms Genome Architecture And Evolution
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Chromosome Biology As A Key To Understand Disease Mechanisms Genome Architecture And Evolution
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Author : Anja Weise
language : en
Publisher: Frontiers Media SA
Release Date : 2021-04-16
Chromosome Biology As A Key To Understand Disease Mechanisms Genome Architecture And Evolution written by Anja Weise and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-04-16 with Science categories.
This topic has been realized, and is in collaboration with Dr. Constanze Pentzold, Post Doctoral Researcher at the Institute of Human Genetics, University Hospital Jena.
Genome Chaos
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Author : Henry H. Heng
language : en
Publisher: Academic Press
Release Date : 2019-05-25
Genome Chaos written by Henry H. Heng and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-05-25 with Medical categories.
Genome Chaos: Rethinking Genetics, Evolution, and Molecular Medicine transports readers from Mendelian Genetics to 4D-genomics, building a case for genes and genomes as distinct biological entities, and positing that the genome, rather than individual genes, defines system inheritance and represents a clear unit of selection for macro-evolution. In authoring this thought-provoking text, Dr. Heng invigorates fresh discussions in genome theory and helps readers reevaluate their current understanding of human genetics, evolution, and new pathways for advancing molecular and precision medicine. Bridges basic research and clinical application and provides a foundation for re-examining the results of large-scale omics studies and advancing molecular medicine Gathers the most pressing questions in genomic and cytogenomic research Offers alternative explanations to timely puzzles in the field Contains eight evidence-based chapters that discuss 4d-genomics, genes and genomes as distinct biological entities, genome chaos and macro-cellular evolution, evolutionary cytogenetics and cancer, chromosomal coding and fuzzy inheritance, and more
Benign And Pathological Chromosomal Imbalances
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Author : Thomas Liehr
language : en
Publisher: Academic Press
Release Date : 2013-08-31
Benign And Pathological Chromosomal Imbalances written by Thomas Liehr and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-08-31 with Science categories.
Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques
Molecular Biology Of The Cell
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Author : Bruce Alberts
language : en
Publisher:
Release Date : 2002
Molecular Biology Of The Cell written by Bruce Alberts and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2002 with Cytology categories.
Fluorescence In Situ Hybridization Fish Application Guide
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Author : Thomas Liehr
language : en
Publisher: Springer Science & Business Media
Release Date : 2008-11-26
Fluorescence In Situ Hybridization Fish Application Guide written by Thomas Liehr and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-11-26 with Science categories.
This book is a unique source of information on the present state of the exciting field of molecular cytogenetics and how it can be applied in research and diagnostics. The basic techniques of fluorescence in situ hybridization and primed in situ hybridization (PRINS) are outlined, the multiple approaches and probe sets that are now available for these techniques are described, and applications of them are presented in 36 chapters by authors from ten different countries around the world. The book not only provides the reader with basic and background knowledge on the topic, but also gives detailed protocols that show how molecular cytogenetics is currently performed by specialists in this field. The FISH Application Guide initially provides an overview of the (historical) development of molecular cytogenetics, its basic procedures, the equipment required, and probe generation. The book then describes tips and tricks for making different tissues available for molecular cytogenetic studies. These are followed by chapters on various multicolor FISH probe sets, their availability, and their pot- tial for use in combination with other approaches. The possible applications that are shown encompass the characterization of marker chromosomes, cryptic cytogenetic aberrations and epigenetic changes in humans by interphase and metaphase cyto- netics, studies of nuclear architecture, as well as the application of molecular cytogenetics to zoology, botany and microbiology.
Mechanisms Driving Karyotype Evolution And Genomic Architecture
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Author : Aurora Ruiz-Herrera
language : en
Publisher: MDPI
Release Date : 2021-08-31
Mechanisms Driving Karyotype Evolution And Genomic Architecture written by Aurora Ruiz-Herrera and has been published by MDPI this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-08-31 with Science categories.
Understanding of the origin of species and their adaptability to new environments is one of the main questions in biology. This is fueled by the ongoing debate on species concepts and facilitated by the availability of an unprecedented large number of genomic resources. Genomes are organized into chromosomes, where significant variations in number and morphology are observed among species due to large-scale structural variants such as inversions, translocations, fusions, and fissions. This genomic reshuffling provides, in the long term, new chromosomal forms on which natural selection can act upon, contributing to the origin of biodiversity. This book contains mainly articles, reviews, and an opinion piece that explore numerous aspects of genome plasticity among taxa that will help in understanding the dynamics of genome composition, the evolutionary relationships between species and, in the long run, speciation.
Evolutionary Genomics
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Author : Maria Anisimova
language : en
Publisher:
Release Date : 2012
Evolutionary Genomics written by Maria Anisimova and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012 with Evolutionary genetics categories.
Genes Behavior And The Social Environment
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Author : Institute of Medicine
language : en
Publisher: National Academies Press
Release Date : 2006-12-07
Genes Behavior And The Social Environment written by Institute of Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006-12-07 with Social Science categories.
Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.
Molecular Pathology
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Author : William B. Coleman
language : en
Publisher: Academic Press
Release Date : 2017-11-09
Molecular Pathology written by William B. Coleman and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-11-09 with Medical categories.
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
Uniparental Disomy Upd In Clinical Genetics
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Author : Thomas Liehr
language : en
Publisher: Springer
Release Date : 2014-06-26
Uniparental Disomy Upd In Clinical Genetics written by Thomas Liehr and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-06-26 with Medical categories.
This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.