Mouse Models of the Nuclear Envelopathies and Related Diseases - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Mouse Models of the Nuclear Envelopathies and Related Diseases write by . This book was released on 2014-06-16. Mouse Models of the Nuclear Envelopathies and Related Diseases available in PDF, EPUB and Kindle. Volume 109 of Current Topics in Developmental Biology covers mouse models of the nuclear envelopathies and related diseases, with contributions from an international board of authors. The chapters provide a comprehensive set of reviews covering such topics as mouse models neurodegenerative diseases including Parkinson’s and dystonia, muscle ageing and sarcopenia, cardiac failure and repair, ageing and prospects lifespan extension, lipodystrophy and the significance in fat regulation, also identifying developmental mutations in mammals and nuclear envelope and LINC complex in disease. Covers the area of mouse models of developmental genetic disease International board of authors Provides a comprehensive set of reviews covering such topics as mouse models neurodegenerative diseases including Parkinson’s, muscle aging, lipodystrophy, and more
Mouse Models of Developmental Genetic Disease
Mouse Models of Developmental Genetic Disease - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Mouse Models of Developmental Genetic Disease write by . This book was released on 2011-09-06. Mouse Models of Developmental Genetic Disease available in PDF, EPUB and Kindle. Approximately three percent of newborn humans have congenital anomalies with significant cosmetic and/or functional consequences. Much of our ability to understand what has gone awry in these birth defects rests with development of animal models for them; the mouse has emerged as the model organism of choice for these studies. This volume reviews mouse models of specific developmental genetic diseases, including neural tube defects; cleft lip and/or palate; congenital heart disease; ciliopathies; hereditary deafness and others to provide conceptual insight into congenital anomalies generally. The interplay between clinical observation and murine model systems is expected to yield deep insight into mammalian developmental processes and the emergence of effective preventive and/or therapeutic strategies. Provides busy clinical and basic science researchers a one-stop overview and synthesis of the latest research findings and contemporary thought in the area Allows researchers to compare and contrast disease models and also to learn about what models have been developed for large-scale distribution Allows researchers to evaluate basic differences in mouse and human biology and propose alternate pathways and possible gene interactions of the disease
Cytogenomics
Cytogenomics - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Cytogenomics write by Thomas Liehr. This book was released on 2021-05-25. Cytogenomics available in PDF, EPUB and Kindle. Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease Features chapter contributions from international leaders in the field
Disorders of Voluntary Muscle
Disorders of Voluntary Muscle - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Disorders of Voluntary Muscle write by George Karpati. This book was released on 2001-07-12. Disorders of Voluntary Muscle available in PDF, EPUB and Kindle. Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.
Pediatric Neurology, Part III
Pediatric Neurology, Part III - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Pediatric Neurology, Part III write by . This book was released on 2013-04-24. Pediatric Neurology, Part III available in PDF, EPUB and Kindle. The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology International list of contributors including the leading workers in the field Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care
