Transcription Factors and Human Disease

Transcription Factors and Human Disease PDF Author: Gregg L. Semenza
Publisher: Oxford Monographs on Medical G
ISBN: 9780195112399
Category : Health & Fitness
Languages : en
Pages : 396

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Book Description
Several general principles have emerged from the study of human transcription factors. First, germline mutations in genes encoding transcription factors result in malformation syndromes in which the development of multiple body structures is affected. Second, somatic mutations involving many of the same genes contribute to tumorigenesis. Third, transcriptional regulatory mechanisms demonstrate remarkable evolutionary conservation. Fourth, prenatal development and postnatal physiology are unified by the demonstration that a single transription factor can control the proliferation of progenitor cells during development and the expression within the differentiated cells of gene products that participate in specific physiologic responses. Transcription Factors and Human Disease presents the basic science of transcriptional regulation and then describes inherited human diseases attributable to mutations in DNA sequences encoding transcription factors or their cognate binding sites. The involvement of transcription factors in somatic cell genetic diseases (cancer) and epigenetic disease (teratogenesis) is briefly discussed. The effect of specific mutations on transcription factor activity and the relationship between transcriptional dysregulation, dominant or recessive inheritance patterns, and disease pathogenesis are also explored. This book thus provides a direct connection between molecular defects in transcriptional regulation and human pathophysiology.

Transcription Factors and Human Disease

Transcription Factors and Human Disease PDF Author: Gregg L. Semenza
Publisher: Oxford Monographs on Medical G
ISBN: 9780195112399
Category : Health & Fitness
Languages : en
Pages : 396

Get Book Here

Book Description
Several general principles have emerged from the study of human transcription factors. First, germline mutations in genes encoding transcription factors result in malformation syndromes in which the development of multiple body structures is affected. Second, somatic mutations involving many of the same genes contribute to tumorigenesis. Third, transcriptional regulatory mechanisms demonstrate remarkable evolutionary conservation. Fourth, prenatal development and postnatal physiology are unified by the demonstration that a single transription factor can control the proliferation of progenitor cells during development and the expression within the differentiated cells of gene products that participate in specific physiologic responses. Transcription Factors and Human Disease presents the basic science of transcriptional regulation and then describes inherited human diseases attributable to mutations in DNA sequences encoding transcription factors or their cognate binding sites. The involvement of transcription factors in somatic cell genetic diseases (cancer) and epigenetic disease (teratogenesis) is briefly discussed. The effect of specific mutations on transcription factor activity and the relationship between transcriptional dysregulation, dominant or recessive inheritance patterns, and disease pathogenesis are also explored. This book thus provides a direct connection between molecular defects in transcriptional regulation and human pathophysiology.

Transcription Factors and Human Disease

Transcription Factors and Human Disease PDF Author: Gregg L. Semenza
Publisher:
ISBN: 9780197709115
Category : Carcinogenesis
Languages : en
Pages : 0

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Book Description
This work discusses the basic science of transcriptional regulation, and describes inherited human diseases attributable to mutations in DNA sequences encoding transcription factors or their cognate binding sites.

Gene Regulation in Eukaryotes

Gene Regulation in Eukaryotes PDF Author: Edgar Wingender
Publisher: Wiley-Blackwell
ISBN:
Category : Science
Languages : en
Pages : 452

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Book Description
A much-needed guide through the overwhelming amount of literature in the field. Comprehensive and detailed, this book combines background information with the most recentinsights. It introduces current concepts, emphasizing the transcriptional control of genetic information. Moreover, it links data on the structure of regulatory proteins with basic cellular processes. Both advanced students and experts will find answers to such intriguing questions as: - How are programs of specific gene repertoires activated and controlled? - Which genes drive and control morphogenesis? - Which genes govern tissue-specific tasks? - How do hormones control gene expression in coordinating the activities of different tissues? An abundant number of clearly presented glossary terms facilitates understanding of the biological background. Speacial feature: over 2200 (!) literature references.

Biology of the Mammary Gland

Biology of the Mammary Gland PDF Author: John A. Mol
Publisher: Springer Science & Business Media
ISBN: 0306468328
Category : Science
Languages : en
Pages : 309

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Book Description
Proceedings of the European Cooperation in the Field of Scientific and Technical Research (COST 825) Symposium on Mammary Gland Biology, held September 16-18, 1999, in Tours, France. It is difficult to overstate the evolutionary and functional significance of mammary tissue in biology. Substantial progress has been made by researchers in various disciplines, particularly over the last fifteen years, towards realizing the potential of this tissue to yield powerful experimental models for morphogenesis and tissue development; for cellular differentiation; for the biosynthesis and secretion of proteins, lipids, small molecules and inorganic salts; and for the coordination and regulation of these processes. More recently, the possibility of exploiting the secretory epithelial cells of mammary tissue as `cell factories' has become a reality and the recombinant production by lactating animals of an increasing number of proteins, valuable both in the pharmaceutical and `nutraceutical' fields, is in progress or under development. Also in this sphere of agricultural production, genetic as well as nutritional technologies are under investigation and exploitation to optimize milk composition for various end-uses - for instance in food process and manufacture. The possibilities of deriving health benefit from the bioactive properties of some of the minor constituents of milk are emerging to counter the highly-publicized negative health impact of excessive consumption of saturated animal fats. In human nutrition and medicine, the mammary gland is both a source of nutrition to the neonate and a potential health threat to the adult female - breast cancer remains the major single cause of female mortality in most developed countries. This volume provides a unique glimpse into our understanding, at the cutting edge of a variety of disciplines, of this versatile and extraordinary tissue, at the birth of the twenty-first century.

Transcriptional Control of Neural Crest Development

Transcriptional Control of Neural Crest Development PDF Author: Brian L. Nelms
Publisher: Morgan & Claypool Publishers
ISBN: 161504048X
Category : Science
Languages : en
Pages : 227

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Book Description
The neural crest is a remarkable embryonic population of cells found only in vertebrates and has the potential to give rise to many different cell types contributing throughout the body. These derivatives range from the mesenchymal bone and cartilage comprising the facial skeleton, to neuronal derivatives of the peripheral sensory and autonomic nervous systems, to melanocytes throughout the body, and to smooth muscle of the great arteries of the heart. For these cells to correctly progress from an unspecifi ed, nonmigratory population to a wide array of dynamic, differentiated cell types-some of which retain stem cell characteristics presumably to replenish these derivatives-requires a complex network of molecular switches to control the gene programs giving these cells their defi ning structural, enzymatic, migratory, and signaling capacities. This review will bring together current knowledge of neural crest-specifi c transcription factors governing these progressions throughout the course of development. A more thorough understanding of the mechanisms of transcriptional control in differentiation will aid in strategies designed to push undifferentiated cells toward a particular lineage, and unraveling these processes will help toward reprogramming cells from a differentiated to a more naive state. Table of Contents: Introduction / AP Genes / bHLH Genes / ETS Genes / Fox Genes / Homeobox Genes / Hox Genes / Lim Genes / Pax Genes / POU Domain Genes / RAR/RXR Genes / Smad Genes / Sox Genes / Zinc Finger Genes / Other Miscellaneous Genes / References / Author Biographies

Heritable Human Genome Editing

Heritable Human Genome Editing PDF Author: The Royal Society
Publisher: National Academies Press
ISBN: 0309671132
Category : Medical
Languages : en
Pages : 239

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Book Description
Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.

RNA Polymerase III Transcription

RNA Polymerase III Transcription PDF Author: Robert J. White
Publisher: Springer Science & Business Media
ISBN: 3662035189
Category : Science
Languages : en
Pages : 274

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Book Description
This monograph reviews and summarizes the substantial body of work that has been published on the transcription by polymerase III over the past 5 years. Progress in this field has been very rapid since 1993, and this new edition incorporates all the recent developments and offers the reader a highly detailed analysis of the current state of research on this largest and most complex of the eukaryotic RNA polymerases.

Gene Regulation, Epigenetics and Hormone Signaling

Gene Regulation, Epigenetics and Hormone Signaling PDF Author: Subhrangsu S. Mandal
Publisher: John Wiley & Sons
ISBN: 3527322817
Category : Science
Languages : en
Pages : 678

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Book Description
The first of its kind, this reference gives a comprehensive but concise introduction to epigenetics before covering the many interactions between hormone regulation and epigenetics at all levels. The contents are very well structured with no overlaps between chapters, and each one features supplementary material for use in presentations. Throughout, major emphasis is placed on pathological conditions, aiming at the many physiologists and developmental biologists who are familiar with the importance and mechanisms of hormone regulation but have a limited background in epigenetics.

Gene Control, Second Edition

Gene Control, Second Edition PDF Author: David Latchman
Publisher: Garland Science
ISBN: 131740775X
Category : Science
Languages : en
Pages : 529

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Book Description
The new edition of Gene Control has been updated to include significant advances in the roles of the epigenome and regulatory RNAs in gene regulation. The chapter structure remains the same: the first part consists of pairs of chapters that explain the mechanisms involved and how they regulate gene expression, and the second part deals with specific biological processes (including diseases) and how they are controlled by genes. Coverage of methodology has been strengthened by the inclusion more explanation and diagrams.The significant revision and updating will allow Gene Control to continue to be of value to students, scientists and clinicians interested in the topic of gene control.

Epigenetics in Human Disease

Epigenetics in Human Disease PDF Author: Trygve Tollefsbol
Publisher: Academic Press
ISBN: 0123884160
Category : Medical
Languages : en
Pages : 617

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Book Description
Epigenetics is one of the fastest growing fields of sciences, illuminating studies of human diseases by looking beyond genetic make-up and acknowledging that outside factors play a role in gene expression. The goal of this volume is to highlight those diseases or conditions for which we have advanced knowledge of epigenetic factors such as cancer, autoimmune disorders and aging as well as those that are yielding exciting breakthroughs in epigenetics such as diabetes, neurobiological disorders and cardiovascular disease. Where applicable, attempts are made to not only detail the role of epigenetics in the etiology, progression, diagnosis and prognosis of these diseases, but also novel epigenetic approaches to the treatment of these diseases. Chapters are also presented on human imprinting disorders, respiratory diseases, infectious diseases and gynecological and reproductive diseases. Since epigenetics plays a major role in the aging process, advances in the epigenetics of aging are highly relevant to many age-related human diseases. Therefore, this volume closes with chapters on aging epigenetics and breakthroughs that have been made to delay the aging process through epigenetic approaches. With its translational focus, this book will serve as valuable reference for both basic scientists and clinicians alike. Comprehensive coverage of fundamental and emergent science and clinical usage Side-by-side coverage of the basis of epigenetic diseases and their treatments Evaluation of recent epigenetic clinical breakthroughs