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This book provides a glimpse into the dynamic process of genetic polymorphism by presenting studies carried out on different kinds of organisms at the DNA level or gene expression level. Chapters address such topics as genetic polymorphism in animals, gametocyte biomarkers, thrombotic disorders, prostate cancer, and more.
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The objective of this Genetic Polymorphisms book is to rehighlight and provide few updates on the role of genetic polymorphisms in medicine and agriculture, which void emerging opinion on ""full death"" of genetic polymorphisms as useful genetic markers. Chapters presented here demonstrate the future benefit of SNPs in many genetic studies as well as prognosis disease and diagnosis.
Genetics. --- Genetic polymorphisms. --- Polymorphisms, Genetic --- Population genetics --- Biology --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Chromosomes --- Heredity --- Mutation (Biology) --- Variation (Biology) --- Medicine --- Medical Genetics --- Molecular Genetics --- Health Sciences
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Pharmacogenomics is one of the emerging approaches to precision medicine, tailoring drug selection and dosing to the patient’s genetic features. In recent years, several pharmacogenetic guidelines have been published by international scientific consortia, but the uptake in clinical practice is still poor. Many coordinated international efforts are ongoing in order to overcome the existing barriers to pharmacogenomic implementation. On the other hand, existing validated pharmacogenomic markers can explain only a minor part of the observed clinical variability in the therapeutic outcome. New investigational approaches are warranted, including a study of the pharmacogenomic role of the immune system genetics and of previously neglected rare genetic variants, reported to account for a large part of inter-individual variability in drug metabolism. In this book, we have collected a series of articles covering many aspects of pharmacogenomics. These include clinical implementation of pharmacogenomics in clinical practice, development of tools or infrastructures to support this process, research of new pharmacogenomics markers to increase drug efficacy and safety, and the impact of rare genetic variants in pharmacogenomics.
CYP2C9 --- VKORC1 --- warfarin --- warfarin initiation phase of therapy --- INR --- pharmacogenetics study --- pharmacogenomics --- pharmacogenetics --- genotype --- phenotype --- alleles --- precision medicine --- pharmacotranscriptomics --- high-throughput analysis --- childhood acute lymphoblastic leukemia --- clopidogrel --- acenocoumarol --- CDSS --- implementation --- azathioprine --- inflammatory bowel disease --- glutathione-S transferase --- pharmacokinetics --- nucleoside analogs --- microRNAs --- gene expression --- drug resistance --- AML --- cisplatin --- nephrotoxicity --- kidney injury --- genetic polymorphisms --- pre-emptive --- panel --- breast cancer subtype --- miRNA --- pathway --- crosstalk network --- precision drugs --- ovarian cancer --- platinum resistance --- focal copy number alterations --- whole exome sequencing --- personalized medicine --- human genetics --- pharmacology
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Many researchers around the world have demonstrated that the expression of miRNAs is dysregulated in different tumors. Such dysregulation is caused by multiple mechanisms, and exposure to different carcinogens causes dysregulated epigenetic changes and defects in the miRNA biogenesis machinery. Cancer cells with abnormal miRNA expression evolve the capability to sustain proliferative signaling, evade growth suppressors, resist cell death, activate invasion and metastasis, and induce angiogenesis. Genome-wide profiling demonstrates that miRNA expression signatures are associated with tumor type, tumor grade and clinical outcomes, so miRNAs could be potential candidates for diagnostic biomarkers, prognostic biomarkers, therapeutic targets and preventive screening programs. Although miRNAs have multiple targets, their function in tumorigenesis is due to their regulation of a few specific targets. After the first detection of altered miRNA in leukemia, microRNAs have been demonstrated to be constantly altered in all cancer. More recently, microRNA has been shown to be altered by exposure to environmental carcinogens, thus driving the whole process of carcinogenesis. Our aim is to provide a rigorous peer review and publish cutting-edge research on the role of microRNA in cancer prevention therapy to educate and inspire the scientific community worldwide.
breast cancer --- miRNAs --- liquid biopsy --- angiogenesis --- biomarkers --- early diagnosis --- air pollution --- biomarker --- exposure --- human --- lung cancer --- miRNA --- carcinogenesis --- microRNA --- asbestos exposure --- oral squamous cell carcinoma --- diagnosis --- prognosis --- saliva --- neuroblastoma --- MYCN amplification --- metastases --- chemoresistance --- public health genomics --- genetic polymorphisms --- epigenetic modulations --- genetic and microbiome markers --- health technology assessment --- early disease prevention --- nonsmokers lung cancer --- environmental risk factors --- oncogenes --- mutations --- glioblastoma --- microRNAs --- cancer --- qPCR --- cancer stem cells --- plasticizers --- in vitro study --- PRISMA --- no-smokers lung cancer --- DNA adducts --- mesothelioma --- extracellular vesicles --- miR-625 --- fluoro-edenite --- asbestos --- malignant mesothelioma --- cancer prevention --- microbiota --- epigenetics --- environmental pollutants --- cutaneous tissues --- ozone exposure --- n/a
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This book focuses of the neurotransmission phenomenon. By definition, neurotransmitters are chemicals that enable communication, i.e., the flow of nerve impulses between nerve cells or between nerve cells and muscles and glands. Recently, one can distinguish excitatory and inhibitory mediators, both of which are endo–exogenous compounds that control the function of the whole organism. From a chemical point of view, neurotransmitters belong to many different structural groups, such as amino acids (such as glycine), peptides (such as substance P, somatostatin), monoamines (such as noradrenaline or dopamine), purine derivatives (such as adenosine), gases (such as nitrogen, NO, carbon monoxide CO), and acetylcholine. From a medical point of view, disturbances in the concentration of neurotransmitters in the body result in the occurrence of mental disorders and diseases (such as depression, schizophrenia, Parkinson’s disease) and contribute to the occurrence of dementia (including Alzheimer’s disease), among other diseases. However, the problem is much wider. These disorders can lead to a number of cardiovascular diseases and can lead to the development of vascular diseases of the brain as well as in many other organs. Therefore, pharmacological intervention is a therapy that tries to interfere with regulatory processes year after year. Such treatments improve survival, reduce the frequency of readmission, and improve patients' quality of life.
white matter hyperintensities --- dysautonomia --- genetic polymorphisms --- dementia --- levodopa --- renin-angiotensin system --- orthostatic hypotension --- reserpine-induced fibromyalgia model --- vortioxetine --- ropinirole --- serotonin and dopamine in fibromyalgia --- mouse --- dopamine --- acetylcholine --- glutamate --- BDNF --- serotonin --- neurotransmitters --- statins --- neurodegenerative diseases --- stroke --- depression --- androgenetic alopecia --- 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors --- mixed dyslipidemia --- risk factors --- halogenated pyrazolines --- monoamine oxidase inhibitors --- kinetics --- reversibility --- molecular dynamics --- guanylate cyclase (GC) --- chronic heart failure (CHF) --- pulmonary arterial hypertension (PAH) --- tiagabine --- cardiac voltage-gated ion channels --- molecular modeling --- ECG study --- SGLT2i --- sodium-glucose cotransporter 2 inhibitors --- neuroprotection --- atheroprotection --- mTOR --- type 2 diabetes mellitus --- cognitive impairment --- inflammation --- oxidative stress --- antibiotics --- neurotoxicity --- adverse drug reaction --- neurotransmission --- 5-HT receptors --- gastrointestinal tract
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Membrane transporters are of vital importance for cells. They mediate the flux of many substances through the plasma membrane. In this book, the transporters for organic cations, a special class of membrane transporters, are presented. Transporters belonging to this class are important because they allow many neurotransmitters (e.g., histamine and serotonin) and many drugs (e.g., trospium and tofacitinib) to permeate the plasma membrane. Therefore, transporters for organic cations can modulate the action of neurotransmitters and drugs, having in this way important physiological and pharmacological implications. These aspects are illustrated in original works and reviews presented in this book. Using a system biology approach, the global significance of different transporters working together has been illustrated. Regulation mechanisms determining their expression in specific organs and modulating their function are also described in this book, also concerning their role for special drug toxicities. Such an aspect is also discussed in relationship to mutations (single nucleotide polymorphisms) of transporters for organic cations. Finally, the translational value of studies performed in flies, mice, and rats is discussed. Therefore, this book offers integrative information on transporters for organic cations, which may be of interest to beginners and specialized scientists in this field.
transporters --- endogenous metabolism --- functional subgroups --- SLC22 --- remote sensing and signaling --- drug transporters --- gut microbiome --- chronic kidney disease --- solute carrier 22 (SLC22) --- Remote Sensing and Signaling Theory --- interorgan communication --- organic anion transporter --- organic cation transporter --- SLC22A15 --- SLC22A16 --- SLC22A18 --- kidney --- Malpighian tubule --- TCGA --- human pathology atlas --- gene ontology --- organic cations --- transport --- kidneys --- regulation --- Nuclear receptor --- renal excretion --- bile acids --- organic cation transporters --- drug disposition --- genetic polymorphisms --- drug-induced kidney injury --- nephrotoxicity --- RA --- Tofacitinib --- Baricitinib --- MATE1 --- solute carrier (SLC) family --- OCT1 --- SLC22A1 --- species differences --- drugs --- pesticides --- cisplatin nephrotoxicity --- PPAR-alpha --- organic transporters --- serotonin transporter --- plasma membrane monoamine transporter --- ketamine --- isoflurane --- serotonin clearance --- antidepressant-like activity --- chronoamperometry --- tail suspension test --- forced swim test --- hepatotoxicity --- solute carrier --- pulmonary drug delivery --- SLC22A1–5 --- lung epithelium --- drug uptake --- β2-agonists --- chronic lung diseases --- anticholinergics --- trospium --- OCT --- MATE --- drug excretion --- drug transport --- n/a --- SLC22A1-5
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This book, "Cytochromes P450: Drug Metabolism, Bioactivation and Biodiversity", presents five papers on human cytochrome P450 (CYP) and P450 reductase, three reviews on the role of CYPs in humans and their use as biomarkers, six papers on CYPs in microorganisms, and one study on CYP in insects. The first paper reports the in silico modeling of human CYP3A4 access channels. The second uses structural methods to explain the mechanism-based inactivation of CYP3A4 by mibefradil, 6,7-dihydroxy-bergamottin, and azamulin. The third article compares electron transfer in CYP2C9 and CYP2C19 using structural and biochemical methods, and the fourth uses kinetic methods to study electron transfer to CYP2C8 allelic mutants. The fifth article characterizes electron transfer between the reductase and CYP using in silico and in vitro methods, focusing on the conformations of the reductase. Then, two reviews describe clinical implications in cardiology and oncology and the role of fatty acid metabolism in cardiology and skin diseases. The second review is on the potential use of circulating extracellular vesicles as biomarkers. Five papers analyze the CYPomes of diverse microorganisms: the Bacillus genus, Mycobacteria, the fungi Tremellomycetes, Cyanobacteria, and Streptomyces. The sixth focuses on a specific Mycobacterium CYP, CYP128, and its importance in M. tuberculosis. The subject of the last paper is CYP in Sogatella furcifera, a plant pest, and its resistance to the insecticide sulfoxaflor.
Antibiotics --- Bacillus --- biosynthetic gene clusters --- comparative analysis --- cytochrome P450 monooxygenase --- Mycobacterium --- P450 diversity percentage --- P450 profiling --- secondary metabolites --- NADPH-cytochrome P450 reductase (CPR) --- microsomal cytochrome P450 (CYP) --- Cytochrome b5 (CYB5) --- protein dynamics --- electron-transfer (ET) --- protein–protein interaction --- cytochromes P450 --- CYP3A4 --- active site access channels --- cavities boundaries --- minimal cost paths --- CYP139A1 --- genome data mining --- host metabolism --- Mycobacterium tuberculosis --- polyketides --- tuberculosis --- cryptococcus --- cryptococcus neoformans --- CYP51 --- fungal pathogens --- genome data-mining --- human pathogens --- CYP diversity analysis --- tremellomycetes --- trichosporon --- mechanism-based inhibitor --- crystal structure --- CYP4 genes --- genetic polymorphisms --- 20-HETE --- fatty acid --- arachidonic acid --- SNPs --- molecular functionality --- metabolism --- lamellar ichthyosis --- Bietti’s crystalline dystrophy --- cytochrome P450 --- isoform --- membrane protein --- protein-membrane interactions --- enzyme substrate specificity --- mutagenesis --- molecular dynamics simulation --- Sogatella furcifera --- sulfoxaflor --- transcriptome --- RNA interference --- CYP2C8 --- polymorphisms --- reactive oxygen species --- paclitaxel --- cytochrome P450 reductase --- electron transfer --- extracellular vesicles --- exosomes --- extrahepatic tissues --- plasma --- circulatory CYPs --- CYP450 --- drug metabolism --- precision Cardio-Oncology --- precision medicine --- systems medicine --- cytochromes P450 monooxygenases --- Cyanobacteria --- gene-cluster diversity percentage --- mathematical formula --- phylogenetic analysis --- Streptomyces --- cytochrome P450 monooxygenases --- terpenes --- P450 blooming --- non-ribosomal peptides --- cytochrome P450 monooxygenenases --- CYP128A1 --- Mycobacterium tuberculosis H37Rv --- molecular dynamic simulations --- azole drugs --- menaquinone
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In recent years, artificial intelligence has increasingly been playing an essential role in diverse areas in medicine, assisting clinicians in patient management. In nephrology and transplantation, artificial intelligence can be utilized to enhance clinical care, such as through hemodialysis prescriptions and the follow-up of kidney transplant patients. Furthermore, there are rapidly expanding applications and validations of comprehensive, computerized medical records and related databases, including national registries, health insurance, and drug prescriptions. For this Special Issue, we made a call to action to stimulate researchers and clinicians to submit their invaluable works and present, here, a collection of articles covering original clinical research (single- or multi-center), database studies from registries, meta-analyses, and artificial intelligence research in nephrology including acute kidney injury, electrolytes and acid–base, chronic kidney disease, glomerular disease, dialysis, and transplantation that will provide additional knowledge and skills in the field of nephrology and transplantation toward improving patient outcomes.
tacrolimus --- C/D ratio --- tacrolimus metabolism --- everolimus --- conversion --- kidney transplantation --- gut microbiome --- renal transplant recipient --- diarrhea --- immunosuppressive medication --- gut microbiota --- 16S rRNA sequencing --- butyrate-producing bacteria --- Proteobacteria --- torquetenovirus --- immunosuppression --- transplantation --- immunosuppressed host --- outcome --- renal transplantation --- Goodpasture syndrome --- anti-GBM disease --- epidemiology --- hospitalization --- outcomes --- acute kidney injury --- risk prediction --- artificial intelligence --- patent ductus arteriosus --- conservative management --- blood pressure --- eradication --- interferon-free regimen --- hepatitis C infection --- kidney transplant --- allograft steatosis --- lipopeliosis --- transplant numbers --- live donors --- public awareness --- Google TrendsTM --- machine learning --- big data --- nephrology --- chronic kidney disease --- NLR --- PLR --- RPGN --- predictive value --- hemodialysis --- withdrawal --- cellular crescent --- global sclerosis --- procurement kidney biopsy --- glomerulosclerosis --- minimally-invasive donor nephrectomy --- robot-assisted surgery --- laparoscopic surgery --- organ donation --- living kidney donation --- MeltDose® --- LCPT --- renal function --- liver transplantation --- metabolism --- erythropoietin --- fibroblast growth factor 23 --- death --- weekend effect --- in-hospital mortality --- comorbidity --- dialysis --- elderly --- klotho --- α-Klotho --- FGF-23 --- kidney donor --- Nephrology --- CKD-MBD --- CKD-Mineral and Bone Disorder --- deceased donor --- Eurotransplant Senior Program --- risk stratification --- intensive care --- kidney transplant recipients --- long-term outcomes --- graft failure --- cardiovascular mortality --- lifestyle --- inflammation --- vascular calcification --- bone mineral density --- dual-energy X-ray absorptiometry --- living donation --- repeated kidney transplantation --- graft survival --- prolonged ischaemic time --- patient survival --- pre-emptive transplantation --- metabolomics --- urine --- acute rejection --- allograft --- cystatin C --- hyperfiltration --- kidney injury molecule (KIM)-1 --- tubular damage --- genetic polymorphisms --- (cardiac) surgery --- inflammatory cytokines --- clinical studies --- chronic kidney disease (CKD) --- no known kidney disease (NKD) --- ICD-10 billing codes --- phenotyping --- electronic health record (EHR) --- estimated glomerular filtration rate (eGFR) --- machine learning (ML) --- generalized linear model network (GLMnet) --- random forest (RF) --- artificial neural network (ANN), clinical natural language processing (clinical NLP) --- discharge summaries --- laboratory values --- area under the receiver operating characteristic (AUROC) --- area under the precision-recall curve (AUCPR) --- fibrosis --- extracellular matrix --- collagen type VI --- living-donor kidney transplantation --- ethnic disparity
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