The Metabolic & Molecular Bases of Inherited Disease

The Metabolic & Molecular Bases of Inherited Disease PDF Author: Charles R. Scriver
Publisher: New York ; Montreal : McGraw-Hill
ISBN: 9780071363198
Category : Genetic disorders
Languages : en
Pages : 6338

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Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

The Metabolic & Molecular Bases of Inherited Disease

The Metabolic & Molecular Bases of Inherited Disease PDF Author: Charles R. Scriver
Publisher: New York ; Montreal : McGraw-Hill
ISBN: 9780071363198
Category : Genetic disorders
Languages : en
Pages : 6338

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Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Molecular Basis of Health and Disease

Molecular Basis of Health and Disease PDF Author: Undurti N. Das
Publisher: Springer Science & Business Media
ISBN: 940070495X
Category : Medical
Languages : en
Pages : 591

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Book Description
The book describes how the balance between pro- and anti-inflammatory molecules is related to health and disease. It is suggested that many diseases are initiated and their progress is influenced by inflammatory molecules and a decrease in the production and/or action of anti-inflammatory molecules and this imbalance between pro- and anti-inflammatory molecules seems to have been initiated in the perinatal period. This implies that strategies to prevent and manage various adult diseases should start in the perinatal period. An alteration in the metaolism of essential fatty acids and their anti-inflammatory molecules such as lipoxins, resolvins, protecitns, maresins and nitrolipids seems to play a major role in the pathobiology of several adult diseases. Based on these concepts, novel therapeutic approaches in the management of insulin resistance, obesity, type 2 diabetes mellitus, metabolic syndrome, cancer, lupus, rheumatoid arthritis and other auto-immune diseases are presented. Based on all these evidences, a unified concept that several adult diseases are due to an alteration in the balance between pro- and anti-inflammatory molecules is discussed and novel methods of their management are presented.

Molecular Biology of the Cell

Molecular Biology of the Cell PDF Author:
Publisher:
ISBN: 9780815332183
Category : Cells
Languages : en
Pages : 0

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Book Description


Molecular Basis of Membrane-Associated Diseases

Molecular Basis of Membrane-Associated Diseases PDF Author: Angelo Azzi
Publisher: Springer Science & Business Media
ISBN: 364274415X
Category : Science
Languages : en
Pages : 437

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Book Description
Biological membranes are often effected by diseases. Molecular events leading to or arising from pathological changes in the course of different diseases are as yet not clearly understood. This competent study by leading experts covers changes of the cellular environment, membranes and the metabolic functions during tissue growth and differentiation as well as aspects of abnormal organelle function in lysosomal storage diseases, peroxisomal and mitochondrial disorders, enzyme defects and regulatory defects of receptors due to oncogenes.

Molecular Pathology

Molecular Pathology PDF Author: William B. Coleman
Publisher: Academic Press
ISBN: 0128027878
Category : Medical
Languages : en
Pages : 805

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Book Description
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

Essential Concepts in Molecular Pathology

Essential Concepts in Molecular Pathology PDF Author: William B. Coleman
Publisher: Academic Press
ISBN: 0128132582
Category : Medical
Languages : en
Pages : 636

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Book Description
Essential Concepts in Molecular Pathology, Second Edition, offers an introduction to molecular genetics and the "molecular" aspects of human disease. The book illustrates how pathologists harness their understanding of these entities to develop new diagnostics and treatments for various human diseases. This new edition offers pathology, genetics residents, and molecular pathology fellows an advanced understanding of the molecular mechanisms of disease that goes beyond what they learned in medical and graduate school. By bridging molecular concepts of pathogenesis to the clinical expression of disease in cell, tissue and organ, this fully updated, introductory reference provides the background necessary for an understanding of today's advances in pathology and medicine. - Explains the practice of "molecular medicine" and the translational aspects of molecular pathology, including molecular diagnostics, molecular assessment and personalized medicine - Orients non-pathologists on what pathologists look for and how they interpret their observational findings based on histopathology - Provides the reader with what is missing from most targeted introductions to pathology—the cell biology behind pathophysiology

Biochemical and Molecular Basis of Pediatric Disease

Biochemical and Molecular Basis of Pediatric Disease PDF Author: Edward C.C. Wong
Publisher: Academic Press
ISBN: 0128179635
Category : Science
Languages : en
Pages : 1172

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Book Description
Biochemical and Molecular Basis of Pediatric Disease, Fifth Edition has been a well-respected reference in the field for decades. This revision continues the strong focus on understanding the pathogenesis of pediatric disease, emphasizing not only the important role of the clinical laboratory in defining parameters that change with the disease process, but also the molecular basis of many pediatric diseases. - Provides a fully-updated resource with more color illustrations - Focuses on the biochemical and molecular basis of disease as well as the analytical techniques - Defines important differences in the pathophysiology of diseases, comparing childhood with adult

Disorders of Voluntary Muscle

Disorders of Voluntary Muscle PDF Author: George Karpati
Publisher: Cambridge University Press
ISBN: 9780521650625
Category : Medical
Languages : en
Pages : 800

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Book Description
Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.

Cystogenesis

Cystogenesis PDF Author: Jong Hoon Park
Publisher: Springer
ISBN: 9811020418
Category : Medical
Languages : en
Pages : 128

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Book Description
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a highly prevalent hereditary renal disorder in which fluid-filled cysts are appeared in both kidneys. Main causative genes of ADPKD are PKD1 and PKD2, encoding for polycystin-1 (PC1) and polycystin-2 (PC2) respectively. Those proteins are localized on primary cilia and function as mechanosensor in response to the fluid flow, translating mechanistic stimuli into calcium signaling. With mutations either of PKD1 or PKD2, hyper-activated renal tubular epithelial cell proliferation is observed, followed by disrupted calcium homeostasis and aberrant intracellular cyclic AMP (cAMP) accumulation. Increased cell proliferation with fluid secretion leads to the development of thousands of epithelial-lined, fluid-filled cysts in kidneys. It is also accompanied by interstitial inflammation, fibrosis, and finally reaching end-stage renal disease (ESRD). In human ADPKD, the age at which renal failure typically occurs is later in life, however no specific targeted medications are available to cure ADPKD. Recently, potential therapeutic targets or surrogate diagnostic biomarkers for ADPKD are proposed with the advances in the understanding of ADPKD pathogenesis, and some of them were attempted for clinical trials. Herein, we will summarize genetic and epi-genetic molecular mechanisms in ADPKD progression, and overview the currently available biomarkers or potential therapeutic reagents suggested.

An Introduction to Biological Membranes

An Introduction to Biological Membranes PDF Author: William Stillwell
Publisher: Newnes
ISBN: 0080931286
Category : Science
Languages : en
Pages : 379

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Book Description
An Introduction to Biological Membranes: From Bilayers to Rafts covers many aspects of membrane structure/function that bridges membrane biophysics and cell biology. Offering cohesive, foundational information, this publication is valuable for advanced undergraduate students, graduate students and membranologists who seek a broad overview of membrane science. - Brings together different facets of membrane research in a universally understandable manner - Emphasis on the historical development of the field - Topics include membrane sugars, membrane models, membrane isolation methods, and membrane transport