Kategoria BISAC: Medical >> Genetics

Alongside the standard cadre of molecular and clinical underpinnings, this volume includes coverage of newborn screenings and an overarching treatment of IEMs as complex diseases -- how basic alterations can lead to complex secondary and tertiary effects in...

This book is being planned as a tribute to Dr. Victor A. McKusick (1921-2008), who is well known as the "father of medical genetics." He was long associated with the Johns Hopkins University School of Medicine, first as a student in the 1940s, and later as a faculty member, becoming the Chairman of the Department of Medicine at Johns Hopkins. He was a co-founder of GENOMICS and founder and lifelong editor of Mendelian Inheritance in Man, a massive compendium of human syndromes and genetic variants. Dr. McKusick made distinguished contributions to all branches of medical genetics. He...

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...

Bacterial genomics is a mature research interdisciplinary field, which is approached by ecologists, geneticists, bacteriologists, molecular biologists and evolutionary biologists working in medical, industrial and basic science. Thanks to the large diffusion of bacterial genome analysis, Bacterial Pangenomics: Methods and Protocols is able to provide the most recent methodologies about the study of bacterial pangenomes by covering the three major areas: the experimental methods for approaching bacterial pangenomics, the bio informatic pipelines for analysis and annotation of...

Principles of Translational Science in Medicine: From Bench to Bedside, Second Edition, provides an update on major achievements in the translation of research into medically relevant results and therapeutics.

The book presents a thorough discussion of biomarkers, early human trials, and networking models, and includes institutional and industrial support systems. It also covers algorithms that have influenced all major areas of biomedical research in recent years, resulting in an increasing numbers of new chemical/biological entities (NCEs or NBEs) as shown in FDA...

Translating Regenerative Medicine to the Clinic reviews the current methodological tools and experimental approaches used by leading translational researchers, discussing the uses of regenerative medicine for different disease treatment areas, including cardiovascular disease, muscle regeneration, and regeneration of the bone and skin.

Pedagogically, the book concentrates on the latest knowledge, laboratory techniques, and experimental approaches used by translational research leaders in this field. It promotes cross-disciplinary communication between the sub-specialties of...

In this volume" "expert researchers in the field detail many of the methods which are now commonly used to study RNA. These methods are presented as a guidebook to scientists who are experienced with RNA research and want to brush up on a new technique. Written in the highly successful "Methods in Molecular Biology" series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls.
Thorough and intuitive, "RNA-RNA...

This volume presents a valuable and readily reproducible collection of established and emerging techniques on modern genetic analyses. Chapters focus on statistical or data mining analyses, genetic architecture, the burden of multiple testing, genetic variance, measuring epistasis, multifactor dimensionality reduction, and ReliefF. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on...