Genomics of Rare Diseases

Genomics of Rare Diseases
Author: Claudia Gonzaga-Jauregui
Publisher: Academic Press
Total Pages: 318
Release: 2021-06-12
Genre: Medical
ISBN: 0128204362

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians

Conformation of Biological Molecules

Conformation of Biological Molecules
Author: G. Govil
Publisher: Springer Science & Business Media
Total Pages: 226
Release: 2012-12-06
Genre: Science
ISBN: 3642680976

The determination of the three-dimensional structure of a biological molecule is the starting point in the understanding of molecular mechanisms involved in its complex biochemical reactions. The molecular architecture of multimolecular systems such as membranes and chromosomes provides the key to the fascinating field of molecular biology. Stereochemical details of biological macromolecules and their interactions with pharmacological agents form the basis for drug design. Naturally, the study of the structure and function of biological molecules has aroused tremendous interest and investigations in this area are being carried out in a large number of laboratories. The techniques used for this purpose include both experimental methods (X-ray and neutron diffraction measurements, study of NMR, ESR, vibrational and electronic spectra, ORD, CD and dipole moment measurements, biochemical modifications etc. ) and the oretical methods (quantum mechanical and classical potential energy calculations, Monte Carlo simulations and molecular graphics). F or several years now, X-ray diffraction [1] has served as our only source of infor mation on the three-dimensional arrangements of atoms in biopolymers. Fiber-diffrac tion of DNA led to the proposal of the DNA double helix. Fibers of long~hain polymers show ordering in the direction of the fibre-axis but not in the transverse plane. Accurate estimates of the dimensions of helical structures can be made using techniques on the basis of which models of biopolymers can be constructed.

Proceedings of 10th Edition of International Conference on Structural Biology 2018

Proceedings of 10th Edition of International Conference on Structural Biology 2018
Author: EuroScicon
Publisher: EuroScicon
Total Pages: 80
Release: 2018-03-09
Genre: Science
ISBN:

March 15-16, 2018 Barcelona, Spain Key Topics : Structural Biology, Analytical Techniques, 3D Structure Determination, Computational Methods & Biology, Hybrid Approaches For Structural Prediction, Structural Biology Complexity Arena, Frontiers In Structural Biology, Structural Virology, Multiscale Modeling, Simulation & Molecular Graphics, Sequence Analysis, Databases, Cell Signaling Biology, Bionanotechnology, Genome Informatics, Structural Bioinformatics, Advancements In Structural Biology,

Magnetic Resonance in Biological Systems

Magnetic Resonance in Biological Systems
Author: A. Ehrenberg
Publisher: Elsevier
Total Pages: 441
Release: 2013-09-24
Genre: Science
ISBN: 148322676X

Magnetic Resonance in Biological Systems, Volume 9 is a collection of manuscripts presented at the Second International Conference on Magnetic Resonance in Biological Systems, held in Wenner-Gren Center, Stockholm, Sweden on June 1966. The conference is sponsored by International Union of Biochemistry Swedish Medical Research Council Swedish Natural Science Research Council Wenner-Gren Center Foundation for Scientific Research. This book contains 51 chapters, and begins with reviews of NMR investigations of biological macromolecules, including proteins, amino acids, and glycylglycine copper (II). Considerable chapters are devoted to numerous biological studies using the electronic paramagnetic resonance (EPR), thus introducing the branch of science called submolecular biology. This book also explores other applications of NMR and EPR, with special emphasis on blood component analysis and protein-metal complexes. The final chapters survey the principles and applications of Mössbauer spectroscopy. This book will prove useful to analytical chemists and biologists.

Advances in Protein Molecular and Structural Biology Methods

Advances in Protein Molecular and Structural Biology Methods
Author: Timir Tripathi
Publisher: Academic Press
Total Pages: 716
Release: 2022-01-14
Genre: Science
ISBN: 0323902650

Advances in Protein Molecular and Structural Biology Methods offers a complete overview of the latest tools and methods applicable to the study of proteins at the molecular and structural level. The book begins with sections exploring tools to optimize recombinant protein expression and biophysical techniques such as fluorescence spectroscopy, NMR, mass spectrometry, cryo-electron microscopy, and X-ray crystallography. It then moves towards computational approaches, considering structural bioinformatics, molecular dynamics simulations, and deep machine learning technologies. The book also covers methods applied to intrinsically disordered proteins (IDPs)followed by chapters on protein interaction networks, protein function, and protein design and engineering. It provides researchers with an extensive toolkit of methods and techniques to draw from when conducting their own experimental work, taking them from foundational concepts to practical application. - Presents a thorough overview of the latest and emerging methods and technologies for protein study - Explores biophysical techniques, including nuclear magnetic resonance, X-ray crystallography, and cryo-electron microscopy - Includes computational and machine learning methods - Features a section dedicated to tools and techniques specific to studying intrinsically disordered proteins

Cell Culture Engineering

Cell Culture Engineering
Author: Wei-Shu Hu
Publisher: Springer
Total Pages: 179
Release: 2006-08-16
Genre: Science
ISBN: 3540340076

Since the introduction of recombinant human growth hormone and insulin a quarter century ago, protein therapeutics has greatly broadened the ho- zon of health care. Many patients suffering with life-threatening diseases or chronic dysfunctions, which were medically untreatable not long ago, can attest to the wonder these drugs have achieved. Although the ?rst generation of p- tein therapeutics was produced in recombinant Escherichia coli, most recent products use mammalian cells as production hosts. Not long after the ?rst p- duction of recombinant proteins in E. coli, it was realized that the complex tasks of most post-translational modi?cations on proteins could only be ef?ciently carried out in mammalian cells. In the 1990s, we witnessed a rapid expansion of mammalian-cell-derived protein therapeutics, chie?y antibodies. In fact, it has been nearly a decade since the market value of mammalian-cell-derived protein therapeutics surpassed that of those produced from E. coli. A common characteristic of recent antibody products is the relatively large dose required for effective therapy, demanding larger quantities for the treatment of a given disease. This, coupled with the broadening repertoire of protein drugs, has rapidly expanded the quantity needed for clinical applications. The increasing demand for protein therapeutics has not been met exclusively by construction of new manufacturing plants and increasing total volume capacity. More - portantly the productivity of cell culture processes has been driven upward by an order of magnitude in the past decade.

High-School Biology Today and Tomorrow

High-School Biology Today and Tomorrow
Author: National Research Council
Publisher: National Academies
Total Pages: 361
Release: 1989-02-01
Genre: Education
ISBN: 0309040280

Biology is where many of science's most exciting and relevant advances are taking place. Yet, many students leave school without having learned basic biology principles, and few are excited enough to continue in the sciences. Why is biology education failing? How can reform be accomplished? This book presents information and expert views from curriculum developers, teachers, and others, offering suggestions about major issues in biology education: what should we teach in biology and how should it be taught? How can we measure results? How should teachers be educated and certified? What obstacles are blocking reform?

Biological Information--new Perspectives

Biological Information--new Perspectives
Author: Robert Jackson Marks (II)
Publisher: World Scientific Publishing Company Incorporated
Total Pages: 563
Release: 2013
Genre: Computers
ISBN: 9789814508711

In the spring of 2011, a diverse group of scientists gathered at Cornell University to discuss their research into the nature and origin of biological information. This symposium brought together experts in information theory, computer science, numerical simulation, thermodynamics, evolutionary theory, whole organism biology, developmental biology, molecular biology, genetics, physics, biophysics, mathematics, and linguistics. This volume presents new research by those invited to speak at the conference. The contributors to this volume use their wide-ranging expertise in the area of biological information to bring fresh insights into the explanatory difficulties that biological information raises. Going beyond the conventional scientific wisdom, which attempts to explain biological information reductionistically via chemical, genetic, and natural selective determinants, the work represented here develops novel non-reductionist approaches to biological information, looking notably to telic and self-organizational processes. Several clear themes emerged from these research papers: 1) Information is indispensable to our understanding of what life is. 2) Biological information is more than the material structures that embody it. 3) Conventional chemical and evolutionary mechanisms seem insufficient to fully explain the labyrinth of information that is life. By exploring new perspectives on biological information, this volume seeks to expand, encourage, and enrich research on the nature and origin of biological information.

Bioinspiration, Biomimetics, and Bioreplication

Bioinspiration, Biomimetics, and Bioreplication
Author: Raúl J. Martín-Palma
Publisher:
Total Pages: 310
Release: 2011
Genre: Biomedical engineering
ISBN: 9780819485373

Proceedings of SPIE present the original research papers presented at SPIE conferences and other high-quality conferences in the broad-ranging fields of optics and photonics. These books provide prompt access to the latest innovations in research and technology in their respective fields. Proceedings of SPIE are among the most cited references in patent literature.

Algorithms for Computational Biology

Algorithms for Computational Biology
Author: Carlos Martín Vide
Publisher:
Total Pages: 173
Release: 2021
Genre: Bioinformatics
ISBN: 9783030744335

This book constitutes the proceedings of the 8th International Conference on Algorithms for Computational Biology, AlCoB 2020, was planned to be held in Missoula, MT, USA in June 2021. Due to the Covid-19 pandemic, AlCoB 2020 and AlCoB 2021 were merged and held on these dates together. AlCoB 2020 proceedings were published as LNBI 12099. The 12 full papers included in this volume were carefully reviewed and selected from 22 submissions. They were organized in topical sections on genomics, phylogenetics, and RNA-Seq and other biological processes. The scope of AlCoB includes topics of either theoretical or applied interest, namely: sequence analysis; sequence alignment; sequence assembly; genome rearrangement; regulatory motif finding; phylogeny reconstruction; phylogeny comparison; structure prediction; compressive genomics; proteomics: molecular pathways, interaction networks, mass spectrometry analysis; transcriptomics: splicing variants, isoform inference and quantification, differential analysis; next-generation sequencing: population genomics, metagenomics, metatranscriptomics, epigenomics; genome CD architecture; microbiome analysis; cancer computational biology; and systems biology.