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Probleemgeoriënteerd denken in de genetica in klinisch en ethisch perspectief : een praktijkboek voor de opleiding en de kliniek.
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ISBN: 9789058981073 Year: 2007 Publisher: Utrecht Tijdstroom

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Modern Topics in the Phototrophic Prokaryotes : Metabolism, Bioenergetics, and Omics
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ISBN: 9783319513652 Year: 2017 Publisher: Cham : Springer International Publishing : Imprint: Springer,

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This book offers authoritative contributions by world experts actively working on different aspects of phototrophic prokaryotes. Providing up-to-date information in this rapidly advancing field, it covers the range of topics that are currently the focus of research with this group of organisms. As essentially single-celled organisms, phototrophic prokaryotes process many environmental signals and use this information to optimize their metabolism, growth rate, DNA replication and cell division. Phototrophic prokaryotes are collectively of great interest for a number of different fundamental and applied perspectives and have long served as models for understanding such basic fundamental biological processes as photosynthesis and respiration. On an ecological/environmental level they are extremely important, being the most abundant photosynthetic organisms on earth and responsible for the majority of the primary productivity in the oceans. They also hold great promise as biotechnological catalysts, being able to couple solar energy conversion through photosynthesis and carbon fixation to the production of biofuels, commodity chemicals and nutraceuticals. The book is recommended to advanced students and scientists dealing with life sciences, especially in genetics, microbiology and molecular biology.


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The Secret Lives of Transcription Factors
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ISBN: 9783031290299 9783031290275 9783031290282 Year: 2023 Publisher: Cham Springer International Publishing :Imprint: Springer

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This SpringerBrief explores unconventional functions of eight different transcription factors and concludes with a discussion of their biological significance and impact, including effects on processes within the cell nucleaus during development and in adult organisms. Chapter One details unconventional functions of the transcription factors GAGA, HP1, Rb, STAT, ATF-2 and NF-kB. Surprisingly, all of these transcription factors can be found in association with heterochromatin as well as euchromatin, and in some cases unconventional functions have been demonstrated for these heterochromatin-associated factors. Chapter Two focuses on the unconventional functions of STAT and HP1 and discusses their roles in the promotion of longevity, and in protection from cancer and DNA damage. Chapter Three explores the biological significance of the findings presented in the first two chapters and considers how global changes in the epigenome brought about by factors such as STAT and HP1 might affect processes within the cell nucleus during development and in adult organisms. This succinct yet thorough SpringerBrief is essential for researchers studying epigenetics, and to instructors of the subject. It should also appeal to people interested in the control of gene transcription and other processes in the cell nucleus, and to those interested in development.


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DNA methyltransferases - role and function
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ISBN: 9783031114540 9783031114533 9783031114557 9783031114564 Year: 2022 Publisher: Cham, Switzerland : Springer,

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This 2nd edition of the book on DNA methyltransferases has been comprehensively updated to reflect many novel research findings regarding the structure, function, and technology of these enzymes that have emerged over the past 6 years. As the previous edition, this 2nd edition explains the biochemical properties of DNA methyltransferases, describing their structures, mechanisms and biological roles in bacteria, humans and plants. It also discusses the biological processes of reading DNA methylation and the mechanisms of DNA demethylation. This volume highlights the newest findings on DNA methyltransferase inhibitors and their use in cancer therapy as well as the latest epigenome editing systems based on these enzymes. Overall, this 2nd edition comprehensively summarizes the current state of research in the field of DNA methylation and DNA methyltransferase and is essential reading for early career and advanced researchers in this exciting field.


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Inborn Metabolic Diseases
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ISBN: 9783662631232 9783662631225 9783662631249 9783662631256 Year: 2022 Publisher: Berlin, Heidelberg Springer Berlin Heidelberg :Imprint: Springer

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This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD. Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers. Contents A clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. Separate, comprehensive sections on IMD classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques. Two new chapters, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking. The Editors Jean-Marie Saudubray, M.D., Senior Editor, is Emeritus Professor of Paediatrics, Paris. Matthias R. Baumgartner, M.D., is Professor of Paediatrics and Inherited Metabolic Diseases, University of Zurich, and Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children's Hospital, Zurich. Angeles García-Cazorla MD, PhD., is Professor of Paediatric Neurology and Head of the Neurometabolic Unit and Director of Research in Neurology at Hospital Sant Joan de Déu, Barcelona. John H. Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Developmental Biology and Medicine, School of Medical Sciences, University of Manchester. .


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Long Noncoding RNA
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ISBN: 9783030920340 9783030920333 9783030920357 9783030920364 Year: 2022 Publisher: Cham Springer International Publishing :Imprint: Springer

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This book brings together what is currently known in terms of basic research in the field of long noncoding RNAs (lncRNAs) and builds on this to delve more deeply in the specific roles that lncRNAs are playing during inflammation. The book provides readers with basic knowledge on lncRNAs: from understanding the complexity of the transcriptome, conservation, structure and the tools used to investigate these aspects, to how we use this information to study lncRNAs in a specific biological context. The volume covers the emerging roles of lncRNAs in the initial stages of inflammation as well as their roles in specific inflammatory diseases including arthritis, lupus, diabetes and cardiovascular disease. The book also shows the emerging interest in using lncRNAs as a therapeutic target and how this could impact our ability to diagnose and treat inflammatory diseases in the future.


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Chemie van de mens voor medisch ondersteunende beroepen
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ISBN: 9789085621447 Year: 2016 Publisher: Houten Prelum

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Chemie van de mens voor medisch ondersteunende beroepen Binnen de geneeskunde vormt, naast de anamnese en het lichamelijk onderzoek, het laboratoriumonderzoek een van de pijlers voor diagnostiek. Artsen worden hierbij ondersteund door andere zorgprofessionals als verpleegkundigen, verpleegkundig specialisten, assistenten en artsen in opleiding. Voor een goed begrip van laboratoriumonderzoek en een goede interpretatie van labuitslagen, is kennis over de chemische processen in de mens onmisbaar. Chemie van de Mens legt op een begrijpelijke, praktijkgerichte en toegankelijke manier uit hoe de mens als chemische fabriek functioneert. Deze fabriek draait meestal zonder problemen. Maar soms treden er storingen op. Dan moet er onderzoek worden gedaan naar de oorzaak en dat gebeurt vaak in het laboratorium. Dit rijk geïllustreerde boek begint met een beknopte inleiding in de scheikunde. Hierna komt aan de hand van de belangrijke voedingsstoff en koolhydraten, eiwitten en vetten, het functioneren en disfunctioneren van de verschillende systemen in het lichaam aan de orde. Er wordt dus ingegaan op verschillende ziektebeelden, waarbij direct wordt toegelicht wat er precies in het laboratorium wordt gemeten, waarom dit wordt gedaan en wat de uitslagen betekenen voor de patiënt. De hoeveelheid ziektebeelden en soorten laboratoriumbepalingen is enorm. De auteur heeft zich daarom beperkt tot het meest voorkomende laboratoriumonderzoek. Natuurlijk ontbreekt een lijst met referentiewaarden niet: gemeten waarden kunnen dan direct vergeleken worden met normaalwaarden. Chemie van de mens is een opleidingsboek en naslagwerk in een. Het mag niet ontbreken in de omgeving van alle zorgprofessionals die regelmatig met laboratoriumonderzoek te maken krijgen. Het biedt houvast bij de interpretatie van onderzoek en geeft kraakheldere uitleg over complexe onderwerpen in de klinische chemie.


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Normative and Pragmatic Dimensions of Genetic Counseling : Negotiating Genetics and Ethics
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ISBN: 9783319449296 Year: 2016 Publisher: Cham : Springer International Publishing : Imprint: Springer,

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This book provides an elaboration and evaluation of the dominant conceptions of genetic counseling as they are accounted for in three different models: the teaching model; the psychotherapeutic model; and the responsibility model. The elaboration of these models involves an identification of the larger traditions, visions and theories of communication that underwrite them; the evaluation entails an assessment of each model’s theses and ultimately a comparison of their adequacy in response to two important concerns in genetic counseling: the contested values of non-directiveness and the recognition of differences across perspectives, with special focus on how religious and spiritual beliefs of patients are coordinated with the networks of meaning in genetics. Several insights are made explicit in this project through the work of Robert Brandom. Brandom’s deontic scorekeeping model demonstrates how dialogue is at the root of grasping a conceptual content. Against this backdrop, professional communications such as genetic counseling can be seen as late developments in linguistic practices that have structural challenges. Brandom’s model reminds us that the professional needs the client’s understanding to grasp conceptual content in a particular context. .


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Advances in precision nutrition, personalization and health aging
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ISBN: 9783031101533 9783031101526 9783031101540 9783031101557 Year: 2022 Publisher: Cham, Switzerland : Springer,

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This book provides an overview on current trends and developments in precision nutrition and personalized health preservation, focussing on a field which is undergoing rapid change. Today, personalized strategies contrast generally accepted guidelines for specified groups and improved health and disease markers are shifting health care toward preventive strategies. At the same time, advances in food additives, nutraceuticals, functional, and medical foods are breaking down the traditional domains of health-related disciplines. This book aims to provide an overview on these processes, discusses arising problems, and provides an outlook on the future of personalized health care and the role of precision nutrition. It covers preliminary thoughts on what has been achieved and focusses on developments in the area of metabolic diseases, aging, and neurology. The book is intended as a primer in the field of precision nutrition and is aimed at researchers, clinicians, and students in health-related disciplines, who would like to get insights into current trends and developments in this area.


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Mosaicism in Human Skin
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ISBN: 9783030899370 9783030899363 9783030899387 9783030899394 Year: 2023 Publisher: Cham Springer International Publishing :Imprint: Springer

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This second edition offers a fully revised and updated work on a rapidly growing field of knowledge, and was prepared by two experts whose goal was to explain the molecular basis of mosaic skin disorders in a language that is accessible for practicing physicians and medical students alike. It presents a timely and comprehensive overview of the strikingly manifold patterns and peculiarities of mosaic skin disorders in a straightforward, reader-friendly way that will help physicians to further improve genetic counseling and treatment outcomes. The first two parts of the book are devoted to the mechanisms and patterns of cutaneous mosaicism, and include an explanation of genomic and epigenetic mosaicism and a description of the archetypical segmental patterns including the lines of Blaschko and the flag-like, phylloid and lateralization pattern, the non-segmental pattern of large congenital melanocytic nevi, and the sash-like arrangement as noted in a particular type of cutis tricolor. The concept of lethal mutations surviving as mosaics has now been confirmed by molecular analysis in many sporadically occurring phenotypes. The difference between monoallelic and biallelic traits has deepened our understanding of hereditary mosaics, especially of multiple benign skin tumors. Moreover, recognition of the fundamental difference between the simple segmental and the superimposed types of mosaicism is important for the purpose of genetic counseling. In the third part, the various mosaic skin disorders are examined in depth, including nevi, didymotic disorders, other binary genodermatoses, mosaic manifestations of autosomal skin disorders, and nevoid skin disorders such as phenotypes reflecting functional X-chromosome mosaicism or a superimposed mosaic manifestation of common skin diseases with a polygenic background. Reader-friendly and clearly structured, Mosaicism in Human Skin will appeal to both experienced dermatologists and residents in training, as well as to medical geneticists and pediatricians. .

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