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Ocular Transporters in Ophthalmic Diseases and Drug Delivery
This exceptionally important new work represents recent discoveries and advancements in the study of ocular transporters and their roles in ocular physiology, pathology, and drug delivery. Transporters are found on the membranes of cells and play a key role in transmitting signals between cells. In Ocular Transporters in Ophthalmic Diseases and Drug Delivery, a panel of distinguished authors discusses all the latest developments in the study of ocular transporters. Focusing on the molecular characteristics, localization, and substrate specificities in various compartments of the eye, this volume discusses how transporters regulate the clarity of the cornea and lens, the movements of fluids across the ciliary epithelium, and the transport of nutrients across the retinal pigment epithelium. It also provides an in-depth look at how mutations or dysfunction of specific transporters can contribute to various disorders in the eye, including blindness, and provides readers with potential targets and strategies to allow safe passage of therapeutic drugs into the eye.
Novel mouse model for future autism research
Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders characterized by a deficit in social behaviors and nonverbal interactions such as reduced eye contact, facial expression, and body gestures in the first 3 years of life. It is not a single disorder, and it is broadly considered to be a multi-factorial disorder resulting from genetic and non-genetic risk factors and their interaction. Genetic studies of ASD have identified mutations that interfere with typical neurodevelopment in utero through childhood. These complexes of genes have been involved in synaptogenesis and axon motility. Recent developments in neuroimaging studies have provided many important insights into the pathological changes that occur in the brain of patients with ASD in vivo. Especially, the role of amygdala, a major component of the limbic system and the affective loop of the cortico-striatothalamo-cortical circuit, in cognition and ASD has been proved in numerous neuropathological and neuroimaging studies.
New insights in machine learning and deep neural networks
Gatheres ten exemplary papers, each delineating advancements within the spheres of machine learning and deep neural networks. Commencing with a thorough exploration by Figueira and Vaz, readers are introduced to the nuances of synthetic data generation and evaluation, followed closely by Silva and Pedroso's systematic approach to leveraging deep reinforcement learning within the intricate realm of delivery logistics. Kamran et al. contribute an astute methodology for camouflage object segmentation, whereas Pinheiro and collaborators offer a crafted semi-supervised strategy for predicting EGFR mutations via CT images. Subsequent contributions, such as Lee and Yoo's framework for portrait emotion recognition and Balakrishnan et al.'s analytical exploration of transformer models for Twitter disaster detection, further exemplify the depth of research contained herein.
Neuroacanthocytosis Syndromes II
Awareness of neuroacanthocytosis disorders has increased significantly in recent years. There have been a number of important developments in the field since the publication of the first volume, Neuroacanthocytosis Syndromes. This book contains the latest research in this area. Recent advances have identified the range of mutations in the causative genes, shedding light on potential phenotypegenotype correlations. Studies of the proteins affected in these disorders have resulted in increased understanding of their functions and distribution. In vitro studies have identified potential protein interactions, which have important implications for pathophysiology. Work on erythrocyte membranes suggests mechanisms for the generation of acanthocytes. Animal models are being generated which will greatly facilitate understanding the role of gene mutations in humans, and provide the foundation for possible therapeutic interventions. In addition, advances in other neurodegenerative disorders, such as Huntington’s and Parkinson’s diseases, have implications for neuroacanthocytosis.
Inhibitory Regulation of Excitatory Neurotransmission
This book reviews aspects of GABAA receptor function, as well as the properties of a variety of other important inhibitory proteins, such as GABAC receptors, G-protein coupled receptors (specifically, GABAB receptors, metabotropic glutamate receptors and neuropeptide receptors), glycine receptors, GABA transporters and potassium channels. In addition, the consequences of mutations that disrupt the regulation of excitatory neurotransmission, and efforts to target the GABAergic system for therapeutic benefit, are discussed.
Immunology, phenotype first : How mutations have established new principles and pathways in immunology
This monograph deals with the impact of classical genetics in immunology, prov- ing examples of how large immunological questions were solved, and new fields opened to analysis through the study of phenotypes, either spontaneous or induced. As broad as biology has become, there are those who do not fully understand what the genetic approach is, and how it differs fundamentally from most of the methods available to natural scientists.
Immobilisation of DNA on Chips II
DNA chips are gaining increasing importance in different fields ranging from medicine to analytical chemistry with applications in the latter in food safety and food quality issues as well as in environmental protection. In the medical field, DNA chips are frequently used in arrays for gene expression studies to identify diseased cells due to over- or under-expression of certain genes, to follow the response of drug treatments, or to grade cancers), for genotyping of individuals, for the detection of single nucleotide polymorphisms, point mutations, and short tandem reports, or moreover for genome and transcriptome analyses in the quasi post-genomic sequencing era. Furthermore, due to some unique properties of DNA molecules, self-assembled layers of DNA are promising candidates in the field of molecular electronics.the main focus of these two volumes is on the immobilization chemistry, considering the various aspects of the immobilization process itself, since different types of nucleic acids, support materials, surface activation chemistries and patterning tools are of key concern.
Gruppi : Una introduzione a idee e metodi della Teoria dei Gruppi = Groups : An introduction to the ideas and methods of Group Theory
Born from the university courses of Group Theory held by the author for several years, this book deals with the fundamental arguments of the theory: abelian, nilpotent and solvable groups, free groups, permutations, representations and cohomology. After the first notions, Hölder's program for the classification of finite groups is exposed. A long chapter is dedicated to the action of a group on a set and to the permutations, both under the algebraic and combinatorial aspects, with references to the theory of equations. Some questions of a logical nature are also considered, such as the decidability of the word problem for certain classes of groups. An essential aspect of the book is the presence of a great variety of exercises, about 400, mostly solved.
Génetique statistique = Statistical genetics
Presents the main statistical tools useful in genetics: significance tests, analysis methods based on the likelihood function, EM algorithm, modeling, analysis of variance, hierarchical classifications, multiple comparisons, etc. All of them shed light on a number of biological phenomena such as carcinogenesis, population genetics, Hardy-Weinberg equilibrium, natural selection, mutations, heredity, coalescence processes, and even evolution. This book is intended for mathematicians and biologists alike. Written with a great concern for clarity, it is also accessible to non-specialists who will be able, thanks to it, to strengthen their theoretical base and above all to develop their know-how through very concrete applications.
Genetic testing in reproductive medicine
Illustrates the importance and significance of molecular genetic testing in reproductive disorders. The present book covers the genetic testing in various reproductive system anomalies, including disorders of sexual development, male infertility (Y deletions, autosomal mutations, sperm DNA fragmentation), female infertility (PCOS and POF), mitochondrial DNA testing for oocyte quality, recurrent pregnancy loss, pre-term birth, endometrial receptivity, prenatal genetic screening, reproductive carrier screening, preimplantation genetic screening, endometrial cancer, cervical cancer and other related reproductive health disorders. Microbiome testing and its contribution to genetic testing in reproductive medicine are also discussed. Covers ethical, moral and technical challenges in genetic testing in reproductive medicine. The book aims to set up a standard with regard to genetic testing in the reproductive medicine field, encourage further data generation, and provide food for thought in the areas of lacunae.
Gap Junctions in Development and Disease
Starting with a comprehensive review of the various mouse and human genes encoding the channel-forming protein connexin, further chapters describe the most important connexin mutations that lead to diseases such as hereditary deafness and female infertility in humans. Erroneous signaling mediated via connexin-protein interactions, thought to be responsible for disfunction of organs such as heart, muscle, brain, skin, lens, placenta, and endocrine tissue in mice and men, is also addressed.
Free-Radical-Induced DNA Damage and Its Repair : A Chemical Perspective
Understanding of the molecular basis of DNA damage and its repair has increased dramatically in recent years, and substantial knowledge now exists concerning the products arising from free-radical attack on DNA. Free-radical DNA damage may lead to mutations, cancer, and cell death. Free radicals have various sources, notably ionizing radiation and oxidative stress. In radiotherapy for cancer and with some anticancer drugs, use is made of cell death by excessive DNA damage. The mechanisms leading to products of free-radical attack which have been studied in models and with small double-stranded DNA fragments are discussed in detail, and the basics of the underlying free-radical chemistry are dealt with in separate chapters.
Familial mediterranean fever
Familial Mediterranean Fever (FMF), a genetic disorder causing recurrent inflammatory attacks. It delves into various aspects of FMF, including: Definition and historical background of FMF Underlying causes, signs, and symptoms of the disease Modes of transmission through autosomal recessive inheritance Diagnostic methods encompassing genetic, urine, blood, and imaging tests, emphasizing the significance of early diagnosis The link between FMF and amyloidosis, a serious complication...
Employability and Industrial Mutations : Between Individual Trajectories and Organizational Strategic Planning ; Vol.4
Employability and Industrial Mutations presents a definition of employability and the associated challenges for public authorities, organizations and employees: managing unemployment, successful change and employee empowerment. It then examines several worker profiles to better understand what “being employable” means.
Computing Characterizations of Drugs for Ion Channels and Receptors Using Markov Models
Flow of ions through voltage gated channels can be represented theoretically using stochastic differential equations where the gating mechanism is represented by a Markov model. The flow through a channel can be manipulated using various drugs, and the effect of a given drug can be reflected by changing the Markov model. These lecture notes provide an accessible introduction to the mathematical methods needed to deal with these models. They emphasize the use of numerical methods and provide sufficient details for the reader to implement the models and thereby study the effect of various drugs. Examples in the text include stochastic calcium release from internal storage systems in cells, as well as stochastic models of the transmembrane potential. Well known Markov models are studied and a systematic approach to including the effect of mutations is presented.
Combinatorial Stochastic Processes : Ecole d'Eté de Probabilités de Saint-Flour XXXII - 2002
This volume contains the course “Combinatorial stochastic processes” of Professor Pitman. We cordially thank the author for his performance in Saint-Flour and for these notesThere is particular focus on the theory of random combinatorial structures such as partitions, permutations, trees, forests, and mappings, and connections between the asymptotic theory of enumeration of such structures and the theory of stochastic processes like Brownian motion and Poisson processes.
CO-ENZYME Q10
Coenzyme Q10 (CoQ10) is a fat-soluble compound that is synthesized by the body and can be obtained from the diet. Co-Q10 plays a central role in mitochondrial oxidative phosphorylation and the production of adenosine triphosphate (ATP). It also functions as an antioxidant in cell membranes and lipoproteins. Endogenous synthesis and dietary intake provide sufficient C0- Q10 to prevent deficiency in healthy people, although coenzyme Q10 concentrations in tissues decline with age. Oral supplementation of coenzyme Q10 increases coenzyme Q10 concentrations in plasma and lipoproteins. Oral high-dose co- Q10 is usually effective to treat mitochondrial disorders that are caused by mutations in coenzyme Q10 biosynthetic genes.
Low-cost methods for molecular characterization of mutant plants : Tissue desiccation, DNA extraction and mutation discovery : Protocols
Offers low-cost and rapid molecular assays for the characterization of mutant plant germplasm. Detailed protocols are provided for the desiccation of plant tissues; the extraction of high-quality DNA for downstream applications; the extraction of single-strand-specific nucleases for single nucleotide polymorphism; and small insertion/deletion discovery using standard agarose gel electrophoresis. The methods described can be applied in any laboratory equipped for basic molecular biology and do away with the need for expensive freezers and toxic organic compounds.
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.
L’esprit de l’aiguille : L’apport du Yi Jing à la pratique de l’acupuncture = The Spirit of the Needle: The contribution of the Yi Jing to the practice of acupuncture
Acupuncture deciphers and heals human beings in all their mutations. The symbolism of Yi Jing joins the humanism of this Traditional Medicine for a dynamic reading of the changes and transformations at work in human beings. The double reflection generates a global vision of the human being and the approach to patients is changed. After an approach to the state of mind, encountered in these two fields, the author sets out to find the oldest roots of the notions of Yin and Yang. This allows him to identify the main strengths of the constitution of a human being and to deepen its symbolic construction. Three fields of application of this approach are then studied. The Extraordinary Meridians are viewed from a descriptive and behavioral perspective, which makes them extremely lively and familiar. Luo points, human being's relationship points with Reality, are also considered on a practical level using a symbolic reading of the links of Heaven, Earth and Man. Many examples shed light on these aspects. The last application is a detailed and comprehensive presentation of the fundamental and symbolic functions of the twelve main meridians through the hexagrams which correspond to their ancient Shu points. This original book is intended for any practitioner of traditional Chinese medicine curious to broaden their field of investigation. Dr M. Vinogradoff has been practicing acupuncture for 25 years. He is a member of the French Acupuncture Association, the French Acupuncture College and the Ricci Institute. After having published the complete translation of Yi Jing, in 2006 he published a novel, the action of which is set in Ancient China.
