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Molecular genetics, structures, mechanisms, and functions : Principles of gene manipulation and genomics ; Vol.1
Provides an overview of the future of genetic engineering and delves into the role of biotechnology and its applications in genetic engineering. It discusses the tools of recombinant technology, which have brought about revolution in our understanding of various complex biological phenomena. Chapters cover mutagenesis, construction, and sequencing of DNA libraries along with applications of genetic engineering for improving health, preventing genetic diseases, enhancing food resources, managing environmental bioremediation, and more. Topics include genetic engineering tools for restriction enzymes and vectors, gene and cell division, mutation detection and screening in plants, population genetics, sexuality in bacteria, and more. Several chapters focus on the tools of recombinant technology, such as restriction enzymes, vectors, etc., that have paved the way for creating organisms of choice and opened new horizons in the field of medicine, agriculture, and industry for human welfare.
Medicina delletà prenatale : Prevenzione, diagnosi e terapia dei difetti congeniti e delle principali patologie gravidiche = Prenatal medicine: Prevention, diagnosis and therapy of congenital defects and the main pathologies of pregnancy
This text aims to respond to the actual need to bring together in a single and updated reference text notions and data from different backgrounds, all essential for optimal monitoring of pregnancy.
Inherited inborn errors in amino acids metabolism
Proteins are the most abundant organic molecules in animals, playing important roles in all aspects of cell structure and function. Proteins are biopolymers of acids, so named because the amino group is bonded to the carbon atom, next to the carbonyl group.
Homocysteine
Homocysteine is a non-proteinogenic α-amino acid. It is a homologue of the amino acid cysteine, differing by an additional methylene bridge (-CH2-). It is biosynthesized from methionine by the removal of its terminal methyl group. In the body, Homocysteine (HCY) can be recycled into methionine or converted into cysteine with the aid of certain B-vitamins. A high level of Homocysteine in the blood (hyperhomocysteinemia) makes a person more prone to endothelial cell injury, which leads to inflammation in the blood vessels, which in turn may lead to atherogenesis, which can result in ischemic injury. Therefore, hyperhomocysteinemia is a possible risk factor for coronary artery disease (CAD). Coronary artery disease occurs when an atherosclerotic plaque blocks blood flow to the coronary arteries, which supply the heart with oxygenated blood.
La genetica nell’infertilità maschile = Genetics in male infertility
The notable recent cognitive advances in the field of cytogenetics and molecular genetics have made it possible to identify chromosomal anomalies and gene mutations responsible for numerous male infertility, which were completely ignored until recently. The fact is not without relevance, if the principle is valid that the recognition of the causes of a disease is also the first and necessary approach towards its correct therapy. With this publication, the authors wanted to offer specialists working in the field of assisted reproduction an update on this complex subject, dealing with both genetic causes in male infertility and infertility in genetic diseases.
Clinical metabolomics applications in genetic diseases
Helps readers discover the forefront of personalized medicine on clinical metabolomics and its applications in genetic diseases. This comprehensive guide offers a functional relationship map between cell components and genetic variations in various diseases, providing insights that can be applied to personalized medicine. Covers the latest developments in metabolomics for health, with practical guidance for clinical experts looking to advance their laboratory techniques and career. The metabolomics profile is a powerful tool that has revolutionized our understanding of the relationship between genetics, clinical readouts, and disease outcomes. By integrating metabolomics with genomics and clinical phenotypes, the authors have developed diagnostic and prediction models that have vastly improved patient outcomes and deepened the understanding of disease mechanisms.
Alternative Splicing and Disease
Splicing of primary RNA transcript, i.e. removal of introns and joining of exons to produce mature mRNAs competent for translation into proteins, is a quasi-systematic step of gene expression in higher organisms. However, this process is not unequivocal but can follow alternate pathways. Alternative splicing of a given transcript can therefore yield several distinct mRNAs encoding as many different proteins. Its full biological significance has not been appreciated until it was recognized that alternative splicing is so general as to affect about 75% of all human genes. Therefore, alternative splicing not only vastly increases protein diversity but also offers numerous opportunities for aberrant splicing events with pathological consequences.
