Genetic Homeostasis PDF Download

Author: Isadore Michael Lerner
Publisher:
ISBN:
Category : Science
Languages : en
Pages : 160

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Author: I. Michael Lerner
Publisher:
ISBN: 9780844607726
Category :
Languages : en
Pages :

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Author: Angel L. Pey
Publisher: Academic Press
ISBN: 0128191333
Category : Science
Languages : en
Pages : 452

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Book Description
Protein Homeostasis Diseases: Mechanisms and Novel Therapies offers an interdisciplinary examination of the fundamental aspects, biochemistry and molecular biology of protein homeostasis disease, including the use of natural and pharmacological small molecules to treat common and rare protein homeostasis disorders. Contributions from international experts discuss the biochemical and genetic components of protein homeostasis disorders, the mechanisms by which genetic variants may cause loss-of-function and gain-of-toxic-function, and how natural ligands can restore protein function and homeostasis in genetic diseases. Applied chapters provide guidance on employing high throughput sequencing and screening methodologies to develop pharmacological chaperones and repurpose approved drugs to treat protein homeostasis disorders. - Provides an interdisciplinary examination of protein homeostasis disorders, with an emphasis on treatment strategies employing small natural and pharmacological ligands - Offers applied approaches in employing high throughput sequencing and screening to develop pharmacological chaperones to treat protein homeostasis disease - Gathers expertise from a range of international chapter authors who work across various biological methods and disease specific disciplines of relevance

Author: Richard I. Morimoto
Publisher:
ISBN: 9781936113064
Category : Biological transport
Languages : en
Pages : 0

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Proper folding of proteins is crucial for cell function. Chaperones and enzymes that post-translationally modify newly synthesized proteins help ensure that proteins fold correctly, and the unfolded protein response functions as a homeostatic mechanism that removes misfolded proteins when cells are stressed. This book covers the entire spectrum of proteostasis in healthy cells and the diseases that result when control of protein production, protein folding, and protein degradation goes awry.

Author: Barton Childs
Publisher: JHU Press
ISBN: 9780801874420
Category : Medical
Languages : en
Pages : 352

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Childs thus provides a conceptual framework within which to teach and practice a humane medicine.

Author: Kelly Anne Hyndman
Publisher: Springer
ISBN: 1493932136
Category : Science
Languages : en
Pages : 325

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This book presents cutting edge methods that provide insights into the pathways by which salt and water traverse cell membranes and flow in an orchestrated fashion amongst the many compartments of the body. It focuses on a number of molecular, cellular and whole animal studies that involve multiple physiological systems and shows how the internal milieu is regulated by multifactorial gene regulation, molecular signaling, and cell and organ architecture. Topics covered include: water channels, the urinary concentrating mechanism, angiotensin, the endothelin system, miRNAs and MicroRNA in osmoregulation, desert-adapted mammals, the giraffe kidney, mosquito Malpighian tubules, and circadian rhythms. The book highlights how different approaches to explaining the same physiological processes greatly increase our understanding of these fundamental processes. Greater integration of comparative, evolutionary and genetic animal models in basic science and medical science will improve our overall grasp of the mechanisms of sodium and water balance.

Author: Samantha Fowler
Publisher:
ISBN: 9781739015503
Category :
Languages : en
Pages : 0

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Black & white print. Concepts of Biology is designed for the typical introductory biology course for nonmajors, covering standard scope and sequence requirements. The text includes interesting applications and conveys the major themes of biology, with content that is meaningful and easy to understand. The book is designed to demonstrate biology concepts and to promote scientific literacy.

Author: Rajesh V. Thakker
Publisher: Academic Press
ISBN: 0128041986
Category : Science
Languages : en
Pages : 880

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Book Description
Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. - Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments - Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders - Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder

Author: Jen-Tsan Ashley Chi
Publisher: Springer
ISBN: 1493916831
Category : Medical
Languages : en
Pages : 158

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Book Description
Most biological reactions and functions occur within a narrow range of pH. Any changes in the pH have great impacts on the biological functional at every level, including protein folding, enzymatic activities and proliferation and cell death. Therefore, maintain the pH homeostasis at the local or systemic level is one of the highest priorities for all multicellular organisms. Many redundant mechanisms are in place to maintain the pH homeostasis, a topic that is well covered in the scientific literature and medical textbooks. However, when the pH homeostasis is disrupted in various physiological adaptations and pathological situations, resulting acidity may trigger significant pathophysiological events and modulate disease outcomes. Therefore, understanding how various cells sense and react to acidity have broad impact in a wide variety of human diseases, including cancer, stroke, myocardial infarction and diabetes, renal and infectious diseases. In this book, many investigators have summarized the molecular genetics on the detailed mechanisms by which different mammalian cells sense and response acidity. These chapters cover the acidity with broad impact in biological understanding and human diseases and review various sensing mechanism and cellular responses to pH alterations in both physiological (taste, pain) and pathological settings (ischemia and cancers). Furthermore, these authors present a broad spectrum of investigative approaches to cellular response to acidosis in a in wide variety of human diseases.

Author: Joel B. Hagen
Publisher: University Alabama Press
ISBN: 081732089X
Category : Science
Languages : en
Pages : 356

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Book Description
Traces historical developments in scientific conceptions of physiology, ecology, behavior, and evolutionary biology during the mid-twentieth century Life Out of Balance focuses on a period in history when new ideas of self-regulation, adaptation, and fitness became central to a variety of biological disciplines. During the decades surrounding World War II, these ideas developed in several quite different contexts and led to greater debates about the merits of such models as applied to larger systems, including society at large. Particularly in its later cybernetic form, homeostasis seemed to provide new ways of discussing balance and regulation that avoided discredited approaches of earlier champions of vitalism and mechanism. It provided a common perspective and terminology for discussing self-regulating “systems,” whether biological, mechanical, or social. Although enormously fruitful and influential, homeostatic perspectives also generated numerous controversies when critics questioned the degree to which biological systems are characterized by balance and self-regulation. Resolving these controversies continues to be a challenge in modern biology. If natural selection constitutes the first law of biology, scientists who champion homeostasis as a theoretical model claim that it is a second law, equally important and closely related to the first. Such claims notwithstanding, homeostasis has generated a series of controversies since it was formalized by Walter Cannon in the late 1920s. Critics contended that Cannon took a too-optimistic view of life, not only ignoring pathological deviations from normality but also failing to adequately explain the ability of living things to respond adaptively to environmental challenges. Underlying these controversies was the unresolved problem of integrating physiology and other areas of functional biology with the emerging evolutionary synthesis of Mendelian genetics and Darwinian natural selection. The physiological idea of homeostasis as the adaptive “fit” between the organism and its environment and the Darwinian idea of adaptation and fitness in terms of reproductive success might seem to be complementary in an unproblematic way, but historically they have had an uneasy relationship.