Genetic Variants And Metabolic Diseases Volume Ii

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Genetic variants and metabolic diseases, volume II

Author : Tarunveer Singh Ahluwalia
Publisher : Frontiers Media SA
ISBN 13 : 2832544673
Total Pages : 155 pages
Book Rating : 4.8/5 (325 download)

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Book Synopsis Genetic variants and metabolic diseases, volume II by : Tarunveer Singh Ahluwalia

Download or read book Genetic variants and metabolic diseases, volume II written by Tarunveer Singh Ahluwalia and published by Frontiers Media SA. This book was released on 2024-02-12 with total page 155 pages. Available in PDF, EPUB and Kindle. Book excerpt: Metabolic syndrome (MetS) is a set of co-morbidities that collectively increase an individual’s risk of developing cardiovascular disease, stroke, and type 2 diabetes mellitus (T2D). Per the World Health Organization (WHO), MetS is typically characterized by obesity, insulin resistance, hypertension, and hyperlipidemia. Building on this point, some of the major risk factors for development of MetS include increased weight or an obese phenotype, lack of physical activity, and genetics. Interestingly, the last decade has witnessed a deluge of Genome-Wide Association Studies (GWAS) that have linked hundreds of genomic with both collective MetS traits, as well as individual metabolic disorders sitting within it. Currently, in the post-GWAS era, the focus has shifted to characterization of these novel genomic to establish causality and disease relevance. This is being pursued by way of functional validation such as gain- and loss-of-function studies, investigating resulting metabolic phenotypes, mechanisms and pathways underlying these phenotypes, their prevalence and potential for risk stratification across populations, and finally, identification of therapeutic targets for pharmacological intervention.

The Metabolic & Molecular Bases of Inherited Disease

Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
ISBN 13 : 9780071363198
Total Pages : 6338 pages
Book Rating : 4.3/5 (631 download)

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Book Synopsis The Metabolic & Molecular Bases of Inherited Disease by : Charles R. Scriver

Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Inherited Metabolic Disease in Adults

Author : Carla E. M. Hollak
Publisher : Oxford University Press
ISBN 13 : 0199972133
Total Pages : 657 pages
Book Rating : 4.1/5 (999 download)

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Book Synopsis Inherited Metabolic Disease in Adults by : Carla E. M. Hollak

Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.

Metabolic Diseases

Author : E. Gilbert-Barness
Publisher : IOS Press
ISBN 13 : 1614997187
Total Pages : 960 pages
Book Rating : 4.6/5 (149 download)

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Book Synopsis Metabolic Diseases by : E. Gilbert-Barness

Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.

A Time for Metabolism and Hormones

Author : Paolo Sassone-Corsi
Publisher : Springer
ISBN 13 : 3319270699
Total Pages : 141 pages
Book Rating : 4.3/5 (192 download)

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Book Synopsis A Time for Metabolism and Hormones by : Paolo Sassone-Corsi

Download or read book A Time for Metabolism and Hormones written by Paolo Sassone-Corsi and published by Springer. This book was released on 2016-04-04 with total page 141 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent years have seen spectacular advances in the field of circadian biology. These have attracted the interest of researchers in many fields, including endocrinology, neurosciences, cancer, and behavior. By integrating a circadian view within the fields of endocrinology and metabolism, researchers will be able to reveal many, yet-unsuspected aspects of how organisms cope with changes in the environment and subsequent control of homeostasis. This field is opening new avenues in our understanding of metabolism and endocrinology. A panel of the most distinguished investigators in the field gathered together to discuss the present state and the future of the field. The editors trust that this volume will be of use to those colleagues who will be picking up the challenge to unravel how the circadian clock can be targeted for the future development of specific pharmacological strategies toward a number of pathologies.

Genetic and Metabolic Disease in Pediatrics

Author : June Kathleen Lloyd
Publisher : Butterworth-Heinemann
ISBN 13 :
Total Pages : 344 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Genetic and Metabolic Disease in Pediatrics by : June Kathleen Lloyd

Download or read book Genetic and Metabolic Disease in Pediatrics written by June Kathleen Lloyd and published by Butterworth-Heinemann. This book was released on 1985 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic and Metabolic Disease in Pediatrics ...

The Genetics of Type 2 Diabetes and Related Traits

Author : Jose C. Florez
Publisher : Springer
ISBN 13 : 3319015745
Total Pages : 571 pages
Book Rating : 4.3/5 (19 download)

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Book Synopsis The Genetics of Type 2 Diabetes and Related Traits by : Jose C. Florez

Download or read book The Genetics of Type 2 Diabetes and Related Traits written by Jose C. Florez and published by Springer. This book was released on 2016-04-11 with total page 571 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the state of the art of type 2 diabetes genetics, from the process of genetic discovery to its interpretation and clinical application, and illustrates a model for other complex human phenotypes.The first section explores genome-wide association studies, the extension of this method to less accessible phenotypes and the arrival of next-generation sequencing. A further section goes beyond genetics to illustrate how other data sources can help interpret genetic data, such as leveraging population diversity, the correlation of genetic associations with physiological measurements, gene expression modulation, environmental factors and our microbial commensals. The third section describes advances in elucidating the complex path from association to function using in-depth sequencing and functional studies of the cellular and molecular effects of genes in the loci identified by genetics. The final section links our current understanding with clinically relevant questions, such as prediction, interactions with drugs or nutrients, and disease prevention, and paints a realistic but hopeful vision of the future.

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics

Author : Reed E. Pyeritz
Publisher : Elsevier
ISBN 13 : 0128152354
Total Pages : 1227 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Elsevier. This book was released on 2024-10-23 with total page 1227 pages. Available in PDF, EPUB and Kindle. Book excerpt: For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. · Thoroughly introduces genetic researchers, students, and healthcare professionals to the principles of human developmental genetics · Examines a wide range of developmental disorders, including craniofacial development as well as disorders affecting hearing and vision · Includes color images supporting identification, concept illustration, and method processing · Features contributions by leading international researchers and practitioners of medical genetics

Genes, Behavior, and the Social Environment

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309133815
Total Pages : 384 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Genes, Behavior, and the Social Environment by : Institute of Medicine

Download or read book Genes, Behavior, and the Social Environment written by Institute of Medicine and published by National Academies Press. This book was released on 2006-11-07 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Inborn Metabolic Diseases

Author : K. Tada
Publisher : Springer Science & Business Media
ISBN 13 : 3662031477
Total Pages : 421 pages
Book Rating : 4.6/5 (62 download)

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Book Synopsis Inborn Metabolic Diseases by : K. Tada

Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.

The Genetics of Circadian Rhythms

Author :
Publisher : Academic Press
ISBN 13 : 0123876982
Total Pages : 269 pages
Book Rating : 4.1/5 (238 download)

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Book Synopsis The Genetics of Circadian Rhythms by :

Download or read book The Genetics of Circadian Rhythms written by and published by Academic Press. This book was released on 2011-09-16 with total page 269 pages. Available in PDF, EPUB and Kindle. Book excerpt: This latest volume in Advances in Genetics covers the genetics of Circadian rhythms. With an international group of authors this volume is the latest offering in this widely praised series.

Genes and Obesity

Author :
Publisher : Academic Press
ISBN 13 : 0080962033
Total Pages : 417 pages
Book Rating : 4.0/5 (89 download)

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Book Synopsis Genes and Obesity by :

Download or read book Genes and Obesity written by and published by Academic Press. This book was released on 2010-12-17 with total page 417 pages. Available in PDF, EPUB and Kindle. Book excerpt: A number of genes have been identified that are associated with an increased body mass index (BMI), the standard measurement of obesity. By analyzing these genes, researchers hope to gain a better understanding of what causes obesity and develop ways to tackle the problem. The study of genes and obesity could lead to new treatments. Genes and Obesity reviews the latest developments in the field. - This series provides a forum for discussion of new discoveries, approaches, and ideas - Contributions from leading scholars and industry experts - Reference guide for researchers involved in molecular biology and related fields

Gene therapy for hearing loss: From mechanism to clinic, volume II

Author : Zuhong He
Publisher : Frontiers Media SA
ISBN 13 : 2832549349
Total Pages : 124 pages
Book Rating : 4.8/5 (325 download)

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Book Synopsis Gene therapy for hearing loss: From mechanism to clinic, volume II by : Zuhong He

Download or read book Gene therapy for hearing loss: From mechanism to clinic, volume II written by Zuhong He and published by Frontiers Media SA. This book was released on 2024-05-23 with total page 124 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Insulin Resistance

Author : Gerald M. Reaven
Publisher : Springer Science & Business Media
ISBN 13 : 9780896035881
Total Pages : 388 pages
Book Rating : 4.0/5 (358 download)

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Book Synopsis Insulin Resistance by : Gerald M. Reaven

Download or read book Insulin Resistance written by Gerald M. Reaven and published by Springer Science & Business Media. This book was released on 1999-04 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: In Insulin Resistance: The Metabolic Syndrome X, outstanding investigators thoughtfully summarize our current understanding of how insulin resistance and its compensating hyperinsulinemia (Syndrome X) play a major role in the pathogenesis and clinical course of high blood pressure and cardiovascular disease-the so-called diseases of Western civilization-as well as polycystic ovary disease. Under the aegis of Gerald Reaven, the discoverer of Syndrome X, the distinguished authorities writing here detail for the first time the pathophysiological consequences and the clinical syndromes, excluding Type 2 diabetes, related to insulin resistance. They also examine the genetic and lifestyle factors that contribute to the wide differences in insulin action that exist in the population at large. Each author has been encouraged to present a point of view that reflects their unique insights. The first authoritative book on the subject, Insulin Resistance: The Metabolic Syndrome X illuminates the special importance of insulin resistance as a major cause of hypertension, heart disease, and polycystic ovary syndrome. Its thoughtful and detailed approach will make it an essential reference for basic and clinical researchers seeking to understand these critical phenomena.

Mitochondrial Dysfunction

Author : Lawrence H. Lash
Publisher : Elsevier
ISBN 13 : 1483218619
Total Pages : 527 pages
Book Rating : 4.4/5 (832 download)

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Book Synopsis Mitochondrial Dysfunction by : Lawrence H. Lash

Download or read book Mitochondrial Dysfunction written by Lawrence H. Lash and published by Elsevier. This book was released on 2013-10-22 with total page 527 pages. Available in PDF, EPUB and Kindle. Book excerpt: Methods in Toxicology, Volume 2: Mitochondrial Dysfunction provides a source of methods, techniques, and experimental approaches for studying the role of abnormal mitochondrial function in cell injury. The book discusses the methods for the preparation and basic functional assessment of mitochondria from liver, kidney, muscle, and brain; the methods for assessing mitochondrial dysfunction in vivo and in intact organs; and the structural aspects of mitochondrial dysfunction are addressed. The text also describes chemical detoxification and metabolism as well as specific metabolic reactions that are especially important targets or indicators of damage. The methods for measurement of alterations in fatty acid and phospholipid metabolism and for the analysis and manipulation of oxidative injury and antioxidant systems are also considered. The book further tackles additional methods on mitochondrial energetics and transport processes; approaches for assessing impaired function of mitochondria; and genetic and developmental aspects of mitochondrial disease and toxicology. The text also looks into mitochondrial DNA synthesis, covalent binding to mitochondrial DNA, DNA repair, and mitochondrial dysfunction in the context of developing individuals and cellular differentiation. Microbiologists, toxicologists, biochemists, and molecular pharmacologists will find the book invaluable.

Lipid Transfer in Lipoprotein Metabolism and Cardiovascular Disease

Author : Xian-Cheng Jiang
Publisher : Springer Nature
ISBN 13 : 981156082X
Total Pages : 235 pages
Book Rating : 4.8/5 (115 download)

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Book Synopsis Lipid Transfer in Lipoprotein Metabolism and Cardiovascular Disease by : Xian-Cheng Jiang

Download or read book Lipid Transfer in Lipoprotein Metabolism and Cardiovascular Disease written by Xian-Cheng Jiang and published by Springer Nature. This book was released on 2020-07-23 with total page 235 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an up-to-date review of the fundamentals of lipid metabolism and its role in cardiovascular diseases. Focusing on lipid transfer proteins in the circulation and cells, the role of important lipid transporters, the effect of recently discovered lipid binding proteins, and the link between lipid metabolism disorders and cardiovascular diseases, it covers phospholipid transfer protein, cholesteryl ester transfer protein, lipopolysaccharide binding protein, microsomal triglyceride transfer protein, ABC binding cassette members, and more. The book offers graduate students and researchers a coherent overview of lipid transfer and transport, as well as the limitations of current research in the field, and promotes further studies on cardiovascular diseases, as well as pharmaceutical research on drug discovery based on lipid transfer, transport, and binding.

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Author : Nenad Blau
Publisher : Springer
ISBN 13 : 3642403379
Total Pages : 880 pages
Book Rating : 4.6/5 (424 download)

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Book Synopsis Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by : Nenad Blau

Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.