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A cross-disciplinary approach is offered to consider the challenge of emerging technologies designed to enhance human bodies and minds. Perspectives from philosophy, ethics, law, and policy are applied to a wide variety of enhancements, including integration of technology within human bodies, as well as genetic, biological, and pharmacological modifications. Humans may be permanently or temporarily enhanced with artificial parts by manipulating (or reprogramming) human DNA and through other enhancement techniques (and combinations thereof). We are on the cusp of significantly modifying (and perhaps improving) the human ecosystem. This evolution necessitates a continuing effort to re-evaluate current laws and, if appropriate, to modify such laws or develop new laws that address enhancement technology. A legal, ethical, and policy response to current and future human enhancements should strive to protect the rights of all involved and to recognize the responsibilities of humans to other conscious and living beings, regardless of what they look like or what abilities they have (or lack). A potential ethical approach is outlined in which rights and responsibilities should be respected even if enhanced humans are perceived by non-enhanced (or less-enhanced) humans as “no longer human” at all.
Technology: general issues --- cyborgs --- implants --- posthumans --- Homo technologicus --- Homo sapiens --- human-machine interaction --- cyborg --- enhancement technology --- prosthesis --- brain-computer interface --- new senses --- identity --- neuroprosthesis --- patent law --- copyright law --- cognitive liberty --- international law --- evolution --- cultural technology --- human enhancement --- engineering --- bionics --- biotechnology --- disability --- marketing --- cultural studies --- Disney --- supercrip --- human enhancements --- autonomy --- informed consent --- moral enhancement --- vulnerability --- numeric identity --- military ethics --- human-machine interaction --- upgrading humans --- superhumans --- gene editing --- embryo selection --- CRISPR --- cognitive enhancement --- assisted reproductive technologies (ART) --- public opinion --- in vitro gametogenesis (IVG) --- genome-wide association studies (GWAS) --- brain-computer interface (BCI) --- brain-machine interface (BMI) --- ethical --- legal and social Issues (ELSI) --- neuroethics --- narrative review --- intellectual property --- copyright --- neuropolitics --- brain science --- voting --- human rights --- ethics --- discrimination --- racism --- speciesism --- ableism --- human-robot interaction --- mind --- sense of agency --- alienation --- cyborgs --- implants --- posthumans --- Homo technologicus --- Homo sapiens --- human-machine interaction --- cyborg --- enhancement technology --- prosthesis --- brain-computer interface --- new senses --- identity --- neuroprosthesis --- patent law --- copyright law --- cognitive liberty --- international law --- evolution --- cultural technology --- human enhancement --- engineering --- bionics --- biotechnology --- disability --- marketing --- cultural studies --- Disney --- supercrip --- human enhancements --- autonomy --- informed consent --- moral enhancement --- vulnerability --- numeric identity --- military ethics --- human-machine interaction --- upgrading humans --- superhumans --- gene editing --- embryo selection --- CRISPR --- cognitive enhancement --- assisted reproductive technologies (ART) --- public opinion --- in vitro gametogenesis (IVG) --- genome-wide association studies (GWAS) --- brain-computer interface (BCI) --- brain-machine interface (BMI) --- ethical --- legal and social Issues (ELSI) --- neuroethics --- narrative review --- intellectual property --- copyright --- neuropolitics --- brain science --- voting --- human rights --- ethics --- discrimination --- racism --- speciesism --- ableism --- human-robot interaction --- mind --- sense of agency --- alienation
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A cross-disciplinary approach is offered to consider the challenge of emerging technologies designed to enhance human bodies and minds. Perspectives from philosophy, ethics, law, and policy are applied to a wide variety of enhancements, including integration of technology within human bodies, as well as genetic, biological, and pharmacological modifications. Humans may be permanently or temporarily enhanced with artificial parts by manipulating (or reprogramming) human DNA and through other enhancement techniques (and combinations thereof). We are on the cusp of significantly modifying (and perhaps improving) the human ecosystem. This evolution necessitates a continuing effort to re-evaluate current laws and, if appropriate, to modify such laws or develop new laws that address enhancement technology. A legal, ethical, and policy response to current and future human enhancements should strive to protect the rights of all involved and to recognize the responsibilities of humans to other conscious and living beings, regardless of what they look like or what abilities they have (or lack). A potential ethical approach is outlined in which rights and responsibilities should be respected even if enhanced humans are perceived by non-enhanced (or less-enhanced) humans as “no longer human” at all.
Technology: general issues --- cyborgs --- implants --- posthumans --- Homo technologicus --- Homo sapiens --- human-machine interaction --- cyborg --- enhancement technology --- prosthesis --- brain–computer interface --- new senses --- identity --- neuroprosthesis --- patent law --- copyright law --- cognitive liberty --- international law --- evolution --- cultural technology --- human enhancement --- engineering --- bionics --- biotechnology --- disability --- marketing --- cultural studies --- Disney --- supercrip --- human enhancements --- autonomy --- informed consent --- moral enhancement --- vulnerability --- numeric identity --- military ethics --- human–machine interaction --- upgrading humans --- superhumans --- gene editing --- embryo selection --- CRISPR --- cognitive enhancement --- assisted reproductive technologies (ART) --- public opinion --- in vitro gametogenesis (IVG) --- genome-wide association studies (GWAS) --- brain–computer interface (BCI) --- brain–machine interface (BMI) --- ethical --- legal and social Issues (ELSI) --- neuroethics --- narrative review --- intellectual property --- copyright --- neuropolitics --- brain science --- voting --- human rights --- ethics --- discrimination --- racism --- speciesism --- ableism --- human–robot interaction --- mind --- sense of agency --- alienation --- n/a --- brain-computer interface --- brain-computer interface (BCI) --- brain-machine interface (BMI) --- human-robot interaction
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Arterial hypertension affects about 1 billion people worldwide and it is the strongest modifiable risk factor for cardiovascular disease and related disability. Since the initial discovery of rare monogenic disorders with large effects, the role of genomics has evolved into large genome-wide association studies detecting common variants with a modest effect size. Similarly, pharmacogenomics has emerged as a new tool for understanding variability in drug response, to maximize efficacy and reduce toxicity. This book presents the most recent advances in the field of genetics and genomics of arterial hypertension and their potential impact on clinical management. The book is a useful tool for clinicians but also to the research community and those who want to be updated in the field.
atrial natriuretic peptide --- T2238C variant --- endothelial dysfunction --- smooth muscle cells contraction --- platelet aggregation --- epigenetics --- cardiovascular diseases --- renin --- low-renin --- hypertension --- mineralocorticoid receptor --- genetics --- aldosterone --- essential hypertension --- blood pressure --- genome-wide association studies --- exome microarray --- next-generation sequencing --- rare variants --- rare-variants association testing --- burden test --- sequence kernel association test --- hypokalemia --- low renin hypertension --- monogenic hypertension --- Liddle syndrome --- SCNN1A --- SCNN1B --- SCNN1G --- non-coding RNA --- micro RNA --- primary aldosteronism --- aldosterone-producing adenoma --- transcriptome profiing --- DNA methylation --- histone modifications --- vascular smooth muscle cells --- endothelial cells --- Kruppel-like factor 15 --- left ventricular hypertrophy --- cardiac hypertrophy --- heart failure --- genetics of left ventricular hypertrophy --- fibromuscular dysplasia --- non atherosclerotic vascular stenosis --- PHACTR1 --- genetic association --- cervical artery dissection --- spontaneous coronary arteries dissection --- CRY1 --- CRY2 --- HSD3B1 --- HSD3B2 --- cardio-tonic steroids --- endogenous ouabain --- adducin --- renal damage --- African American --- ARMC5 --- GRK4 --- CACNA1D --- endocrine hypertension
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A cross-disciplinary approach is offered to consider the challenge of emerging technologies designed to enhance human bodies and minds. Perspectives from philosophy, ethics, law, and policy are applied to a wide variety of enhancements, including integration of technology within human bodies, as well as genetic, biological, and pharmacological modifications. Humans may be permanently or temporarily enhanced with artificial parts by manipulating (or reprogramming) human DNA and through other enhancement techniques (and combinations thereof). We are on the cusp of significantly modifying (and perhaps improving) the human ecosystem. This evolution necessitates a continuing effort to re-evaluate current laws and, if appropriate, to modify such laws or develop new laws that address enhancement technology. A legal, ethical, and policy response to current and future human enhancements should strive to protect the rights of all involved and to recognize the responsibilities of humans to other conscious and living beings, regardless of what they look like or what abilities they have (or lack). A potential ethical approach is outlined in which rights and responsibilities should be respected even if enhanced humans are perceived by non-enhanced (or less-enhanced) humans as “no longer human” at all.
cyborgs --- implants --- posthumans --- Homo technologicus --- Homo sapiens --- human-machine interaction --- cyborg --- enhancement technology --- prosthesis --- brain–computer interface --- new senses --- identity --- neuroprosthesis --- patent law --- copyright law --- cognitive liberty --- international law --- evolution --- cultural technology --- human enhancement --- engineering --- bionics --- biotechnology --- disability --- marketing --- cultural studies --- Disney --- supercrip --- human enhancements --- autonomy --- informed consent --- moral enhancement --- vulnerability --- numeric identity --- military ethics --- human–machine interaction --- upgrading humans --- superhumans --- gene editing --- embryo selection --- CRISPR --- cognitive enhancement --- assisted reproductive technologies (ART) --- public opinion --- in vitro gametogenesis (IVG) --- genome-wide association studies (GWAS) --- brain–computer interface (BCI) --- brain–machine interface (BMI) --- ethical --- legal and social Issues (ELSI) --- neuroethics --- narrative review --- intellectual property --- copyright --- neuropolitics --- brain science --- voting --- human rights --- ethics --- discrimination --- racism --- speciesism --- ableism --- human–robot interaction --- mind --- sense of agency --- alienation --- n/a --- brain-computer interface --- brain-computer interface (BCI) --- brain-machine interface (BMI) --- human-robot interaction
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Plant viruses cause many of the most important diseases threatening crops worldwide. Over the last quarter of a century, an increasing number of plant viruses have emerged in various parts of the world, especially in the tropics and subtropics. As is generally observed for plant viruses, most of the emerging viruses are transmitted horizontally by biological vectors, mainly insects. Reverse genetics using infectious clones—available for many plant viruses—has been used for identification of viral determinants involved in virus–host and virus–vector interactions. Although many studies have identified a number of factors involved in disease development and transmission, the precise mechanisms are unknown for most of the virus–plant–vector combinations. In most cases, the diverse outcomes resulting from virus–virus interactions are poorly understood. Although significant advances have been made towards understand the mechanisms involved in plant resistance to viruses, we are far from being able to apply this knowledge to protect cultivated plants from the all viral threats.The aim of this Special Issue was to provide a platform for researchers interested in plant virology to share their recent results. To achieve this, we invited the plant virology community to submit research articles, short communications and reviews related to the various aspects of plant virology: ecology, virus–plant host interactions, virus–vector interactions, virus–virus interactions, and control strategies. This issue contains some of the best current research in plant virology.
whitefly --- begomovirus --- Vta1 --- virus transmission --- coat proteins --- membrane association --- topology --- cilevirus --- movement protein --- p29 capsid protein --- barley yellow dwarf virus --- BYDV --- wheat --- barley --- yield loss --- vectors --- aphids --- persistent virus --- Amalgaviridae --- synergism --- antagonism --- vsiRNAs --- miRNAs --- mixed-infections --- Arabidopsis thaliana --- Cucumber mosaic virus --- genome-wide association studies --- plant–virus interaction --- seed transmission --- virulence --- callose --- coat protein --- plasmodesmata --- triple gene block --- viral suppressor --- virus movement --- virus replication complex --- TYLCD --- TYLCV --- tomato --- Solanum lycopersicum --- disease resistance --- plant breeding --- PAMP-triggered immunity --- effector-triggered immunity --- RNA silencing --- viral suppressors --- NIK1 --- PTI --- ETI --- geminiviruses --- host jumping --- viral evolution --- trade-off --- plant virus --- RNA virus --- potyvirus --- Plum pox virus --- VPg --- eIF4E --- high-throughput sequencing --- bioinformatics --- detection --- discovery --- MinION --- nanopore sequencing --- rolling circle amplification --- viral metagenomics --- CRESS DNA --- capulavirus --- homopolymer --- Begomovirus --- cucumber --- mechanical inoculation --- real-time PCR --- viral load --- QTLs --- resistance --- Geminiviridae --- sweepoviruses --- DNA satellites --- Deltasatellite --- helper virus range --- transreplication --- high-throughput sequencing (HTS) --- virus --- dsRNA --- total RNA --- OLV1 --- LRNV --- ToFBV --- ASGV --- host adaptation --- virus evolution --- n/a --- plant-virus interaction
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Arterial hypertension affects about 1 billion people worldwide and it is the strongest modifiable risk factor for cardiovascular disease and related disability. Since the initial discovery of rare monogenic disorders with large effects, the role of genomics has evolved into large genome-wide association studies detecting common variants with a modest effect size. Similarly, pharmacogenomics has emerged as a new tool for understanding variability in drug response, to maximize efficacy and reduce toxicity. This book presents the most recent advances in the field of genetics and genomics of arterial hypertension and their potential impact on clinical management. The book is a useful tool for clinicians but also to the research community and those who want to be updated in the field.
Research & information: general --- Biology, life sciences --- atrial natriuretic peptide --- T2238C variant --- endothelial dysfunction --- smooth muscle cells contraction --- platelet aggregation --- epigenetics --- cardiovascular diseases --- renin --- low-renin --- hypertension --- mineralocorticoid receptor --- genetics --- aldosterone --- essential hypertension --- blood pressure --- genome-wide association studies --- exome microarray --- next-generation sequencing --- rare variants --- rare-variants association testing --- burden test --- sequence kernel association test --- hypokalemia --- low renin hypertension --- monogenic hypertension --- Liddle syndrome --- SCNN1A --- SCNN1B --- SCNN1G --- non-coding RNA --- micro RNA --- primary aldosteronism --- aldosterone-producing adenoma --- transcriptome profiing --- DNA methylation --- histone modifications --- vascular smooth muscle cells --- endothelial cells --- Kruppel-like factor 15 --- left ventricular hypertrophy --- cardiac hypertrophy --- heart failure --- genetics of left ventricular hypertrophy --- fibromuscular dysplasia --- non atherosclerotic vascular stenosis --- PHACTR1 --- genetic association --- cervical artery dissection --- spontaneous coronary arteries dissection --- CRY1 --- CRY2 --- HSD3B1 --- HSD3B2 --- cardio-tonic steroids --- endogenous ouabain --- adducin --- renal damage --- African American --- ARMC5 --- GRK4 --- CACNA1D --- endocrine hypertension --- atrial natriuretic peptide --- T2238C variant --- endothelial dysfunction --- smooth muscle cells contraction --- platelet aggregation --- epigenetics --- cardiovascular diseases --- renin --- low-renin --- hypertension --- mineralocorticoid receptor --- genetics --- aldosterone --- essential hypertension --- blood pressure --- genome-wide association studies --- exome microarray --- next-generation sequencing --- rare variants --- rare-variants association testing --- burden test --- sequence kernel association test --- hypokalemia --- low renin hypertension --- monogenic hypertension --- Liddle syndrome --- SCNN1A --- SCNN1B --- SCNN1G --- non-coding RNA --- micro RNA --- primary aldosteronism --- aldosterone-producing adenoma --- transcriptome profiing --- DNA methylation --- histone modifications --- vascular smooth muscle cells --- endothelial cells --- Kruppel-like factor 15 --- left ventricular hypertrophy --- cardiac hypertrophy --- heart failure --- genetics of left ventricular hypertrophy --- fibromuscular dysplasia --- non atherosclerotic vascular stenosis --- PHACTR1 --- genetic association --- cervical artery dissection --- spontaneous coronary arteries dissection --- CRY1 --- CRY2 --- HSD3B1 --- HSD3B2 --- cardio-tonic steroids --- endogenous ouabain --- adducin --- renal damage --- African American --- ARMC5 --- GRK4 --- CACNA1D --- endocrine hypertension
Choose an application
Plant viruses cause many of the most important diseases threatening crops worldwide. Over the last quarter of a century, an increasing number of plant viruses have emerged in various parts of the world, especially in the tropics and subtropics. As is generally observed for plant viruses, most of the emerging viruses are transmitted horizontally by biological vectors, mainly insects. Reverse genetics using infectious clones—available for many plant viruses—has been used for identification of viral determinants involved in virus–host and virus–vector interactions. Although many studies have identified a number of factors involved in disease development and transmission, the precise mechanisms are unknown for most of the virus–plant–vector combinations. In most cases, the diverse outcomes resulting from virus–virus interactions are poorly understood. Although significant advances have been made towards understand the mechanisms involved in plant resistance to viruses, we are far from being able to apply this knowledge to protect cultivated plants from the all viral threats.The aim of this Special Issue was to provide a platform for researchers interested in plant virology to share their recent results. To achieve this, we invited the plant virology community to submit research articles, short communications and reviews related to the various aspects of plant virology: ecology, virus–plant host interactions, virus–vector interactions, virus–virus interactions, and control strategies. This issue contains some of the best current research in plant virology.
Research & information: general --- Biology, life sciences --- whitefly --- begomovirus --- Vta1 --- virus transmission --- coat proteins --- membrane association --- topology --- cilevirus --- movement protein --- p29 capsid protein --- barley yellow dwarf virus --- BYDV --- wheat --- barley --- yield loss --- vectors --- aphids --- persistent virus --- Amalgaviridae --- synergism --- antagonism --- vsiRNAs --- miRNAs --- mixed-infections --- Arabidopsis thaliana --- Cucumber mosaic virus --- genome-wide association studies --- plant-virus interaction --- seed transmission --- virulence --- callose --- coat protein --- plasmodesmata --- triple gene block --- viral suppressor --- virus movement --- virus replication complex --- TYLCD --- TYLCV --- tomato --- Solanum lycopersicum --- disease resistance --- plant breeding --- PAMP-triggered immunity --- effector-triggered immunity --- RNA silencing --- viral suppressors --- NIK1 --- PTI --- ETI --- geminiviruses --- host jumping --- viral evolution --- trade-off --- plant virus --- RNA virus --- potyvirus --- Plum pox virus --- VPg --- eIF4E --- high-throughput sequencing --- bioinformatics --- detection --- discovery --- MinION --- nanopore sequencing --- rolling circle amplification --- viral metagenomics --- CRESS DNA --- capulavirus --- homopolymer --- Begomovirus --- cucumber --- mechanical inoculation --- real-time PCR --- viral load --- QTLs --- resistance --- Geminiviridae --- sweepoviruses --- DNA satellites --- Deltasatellite --- helper virus range --- transreplication --- high-throughput sequencing (HTS) --- virus --- dsRNA --- total RNA --- OLV1 --- LRNV --- ToFBV --- ASGV --- host adaptation --- virus evolution --- whitefly --- begomovirus --- Vta1 --- virus transmission --- coat proteins --- membrane association --- topology --- cilevirus --- movement protein --- p29 capsid protein --- barley yellow dwarf virus --- BYDV --- wheat --- barley --- yield loss --- vectors --- aphids --- persistent virus --- Amalgaviridae --- synergism --- antagonism --- vsiRNAs --- miRNAs --- mixed-infections --- Arabidopsis thaliana --- Cucumber mosaic virus --- genome-wide association studies --- plant-virus interaction --- seed transmission --- virulence --- callose --- coat protein --- plasmodesmata --- triple gene block --- viral suppressor --- virus movement --- virus replication complex --- TYLCD --- TYLCV --- tomato --- Solanum lycopersicum --- disease resistance --- plant breeding --- PAMP-triggered immunity --- effector-triggered immunity --- RNA silencing --- viral suppressors --- NIK1 --- PTI --- ETI --- geminiviruses --- host jumping --- viral evolution --- trade-off --- plant virus --- RNA virus --- potyvirus --- Plum pox virus --- VPg --- eIF4E --- high-throughput sequencing --- bioinformatics --- detection --- discovery --- MinION --- nanopore sequencing --- rolling circle amplification --- viral metagenomics --- CRESS DNA --- capulavirus --- homopolymer --- Begomovirus --- cucumber --- mechanical inoculation --- real-time PCR --- viral load --- QTLs --- resistance --- Geminiviridae --- sweepoviruses --- DNA satellites --- Deltasatellite --- helper virus range --- transreplication --- high-throughput sequencing (HTS) --- virus --- dsRNA --- total RNA --- OLV1 --- LRNV --- ToFBV --- ASGV --- host adaptation --- virus evolution
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This compilation focuses on recent advances in the molecular and cellular understandingof neuromuscular biology, and the treatment of neuromuscular disease.These advances are at the forefront of modern molecular methodologies, oftenintegrating across wet-lab cell and tissue models, dry-lab computational approaches,and clinical studies. The continuing development and application ofmultiomics methods offer particular challenges and opportunities in the field,not least in the potential for personalized medicine.
Research & information: general --- LMNA --- Emery-Dreifuss muscular dystrophy --- Omics --- ALS --- MND --- ALS variants --- genotype-phenotype --- ALS genes --- FSHD --- DUX4 --- transcription --- muscle --- regulation --- spinal muscular atrophy --- adult patients --- disease heterogeneity --- Nusinersen --- disease modifiers --- functional outcomes --- biomarkers --- epigenetic changes --- -omics approaches --- oxidative stress --- mitochondria dysfunction --- axonal transport --- autophagy --- endocytosis --- secretion --- excitotoxicity --- RNA metabolism --- Duchenne muscular dystrophy (DMD) --- exon-skipping therapies --- next-generation sequencing (NGS) --- Sanger sequencing --- multiplex ligation probe amplification (MLPA) --- multiplex polymerase chain reaction (PCR) --- comparative genomic hybridization array (CGH) --- viltolarsen --- eteplirsen --- golodirsen --- rheumatoid arthritis --- SNP --- DMARD --- methotrexate --- pharmacogenomics --- Duchenne muscular dystrophy --- pharmacodynamic biomarkers --- prednisone --- deflazacort --- glucocorticoids --- corticosteroids --- safety --- neuromuscular diseases --- translational research --- disease models --- precision medicine --- miRNA --- proteomics --- calprotectin --- dystrophy --- Becker muscular dystrophy --- dystrophinopathy --- genotype-phenotype correlations --- Canadian Neuromuscular Disease Registry --- reading frame rule --- dystrophin --- multiple logistic regression analysis --- exon skipping therapy --- Amyotrophic Lateral Sclerosis --- machine learning --- genome-wide association studies --- GWAS --- genomics --- ALS pathology --- gene prioritization --- AAV --- genetic neuromuscular disorders --- gene therapy --- clinical trials --- toxicity --- SMA --- DMD --- XLMTM --- facioscapulohumeral dystrophy --- TALEN --- CRISPR-Cas9 --- gene editing --- polyadenylation --- D4Z4 --- duchenne muscular dystrophy (DMD) --- becker muscular dystrophy (BMD) --- exon skipping --- skip-equivalent deletions --- LMNA --- Emery-Dreifuss muscular dystrophy --- Omics --- ALS --- MND --- ALS variants --- genotype-phenotype --- ALS genes --- FSHD --- DUX4 --- transcription --- muscle --- regulation --- spinal muscular atrophy --- adult patients --- disease heterogeneity --- Nusinersen --- disease modifiers --- functional outcomes --- biomarkers --- epigenetic changes --- -omics approaches --- oxidative stress --- mitochondria dysfunction --- axonal transport --- autophagy --- endocytosis --- secretion --- excitotoxicity --- RNA metabolism --- Duchenne muscular dystrophy (DMD) --- exon-skipping therapies --- next-generation sequencing (NGS) --- Sanger sequencing --- multiplex ligation probe amplification (MLPA) --- multiplex polymerase chain reaction (PCR) --- comparative genomic hybridization array (CGH) --- viltolarsen --- eteplirsen --- golodirsen --- rheumatoid arthritis --- SNP --- DMARD --- methotrexate --- pharmacogenomics --- Duchenne muscular dystrophy --- pharmacodynamic biomarkers --- prednisone --- deflazacort --- glucocorticoids --- corticosteroids --- safety --- neuromuscular diseases --- translational research --- disease models --- precision medicine --- miRNA --- proteomics --- calprotectin --- dystrophy --- Becker muscular dystrophy --- dystrophinopathy --- genotype-phenotype correlations --- Canadian Neuromuscular Disease Registry --- reading frame rule --- dystrophin --- multiple logistic regression analysis --- exon skipping therapy --- Amyotrophic Lateral Sclerosis --- machine learning --- genome-wide association studies --- GWAS --- genomics --- ALS pathology --- gene prioritization --- AAV --- genetic neuromuscular disorders --- gene therapy --- clinical trials --- toxicity --- SMA --- DMD --- XLMTM --- facioscapulohumeral dystrophy --- TALEN --- CRISPR-Cas9 --- gene editing --- polyadenylation --- D4Z4 --- duchenne muscular dystrophy (DMD) --- becker muscular dystrophy (BMD) --- exon skipping --- skip-equivalent deletions
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In this Special Issue, we present the state of the art in the field of pig genetics and genomics, including the identification of gene candidates linked to important pig traits and to nutritional modifications, with the aim of collecting the most recent advances. The published manuscripts focused on high-throughput methodologies, such as RNA sequencing, ATAC-seq, MACE-seq, chip-seq, and RRBS, and covered other fields of pig genetics. The pig (Sus scrofa) is the most common large mammal in the world. The Sus genus includes domestic pig and wild boar. Since the draft reference genome sequence of S. scrofa was assembled in 2012, the processes of identification of genes related to important phenotypic traits and of search of genetic markers for pig selection have been significantly refined. In addition, the newest wide-range high-throughput techniques, including microarrays, next-generation sequencing, and the recent PacBio sequencing platform providing ultra-long sequencing reads, allow identifying gene mutations and gene candidates throughout the whole genome, transcriptome, or epigenome and estimating quantitative traits important for breeding as well as the genetic backgrounds of inherited diseases.
Research & information: general --- Biology, life sciences --- Zoology & animal sciences --- HMOX1 gene --- promoter --- transcriptional regulation --- Hezuo Tibetan pig --- AQP3 --- pig --- intramuscular fat --- adipogenesis --- proliferation --- litter size --- total number born alive --- SNP (single nucleotide polymorphism) --- GWAS (Genome-Wide Association Studies) --- heat stress --- Duroc --- RNA-Seq --- NMR --- metabolome --- fatness --- obesity --- extracellular matrix --- fat deposition --- lipid metabolism --- NGS --- genetically modified pigs --- genome modifications --- transgenic pigs --- genetic engineering --- disease models --- recombinant proteins --- xenotransplantation --- xenoantigen --- coagulation system dysregulation --- CRISPR/Cas9 system --- non-homologous DNA ends joining (NHEJ) --- TIDE analysis --- off-target --- skeletal muscle fiber --- meat quality --- metabolic diseases --- lncRNA --- RNA-seq --- porcine β-defensin 2 --- CRISPR/Cas9 --- antimicrobial peptide --- disease-resistant animals --- porcine alveolar macrophages --- DNMT3B --- DNA methylation --- isoform --- TNF-α --- pigs --- fatty acids --- 3′quant mRNA-seq --- nutrigenomics --- TRIM26 --- antiviral response --- IFN-β --- poly (I:C) --- VSV --- PRRSV --- seminal plasma --- endometrium --- global gene expression --- microarray --- alternative splicing --- transcript --- protein --- domain --- single nucleotide polymorphism --- hypothalamus --- puberty --- circRNAs --- pubertal genes --- Duroc pigs --- growth traits --- weighted single-step GWAS --- SNP --- gene expression --- congenital defects --- transcriptomics --- swine --- Sus scrofa --- precision medicine --- lymphatic system --- whole-genome sequencing --- SNP array genotyping --- n/a --- 3'quant mRNA-seq
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This compilation focuses on recent advances in the molecular and cellular understandingof neuromuscular biology, and the treatment of neuromuscular disease.These advances are at the forefront of modern molecular methodologies, oftenintegrating across wet-lab cell and tissue models, dry-lab computational approaches,and clinical studies. The continuing development and application ofmultiomics methods offer particular challenges and opportunities in the field,not least in the potential for personalized medicine.
Research & information: general --- LMNA --- Emery–Dreifuss muscular dystrophy --- Omics --- ALS --- MND --- ALS variants --- genotype–phenotype --- ALS genes --- FSHD --- DUX4 --- transcription --- muscle --- regulation --- spinal muscular atrophy --- adult patients --- disease heterogeneity --- Nusinersen --- disease modifiers --- functional outcomes --- biomarkers --- epigenetic changes --- -omics approaches --- oxidative stress --- mitochondria dysfunction --- axonal transport --- autophagy --- endocytosis --- secretion --- excitotoxicity --- RNA metabolism --- Duchenne muscular dystrophy (DMD) --- exon-skipping therapies --- next-generation sequencing (NGS) --- Sanger sequencing --- multiplex ligation probe amplification (MLPA) --- multiplex polymerase chain reaction (PCR) --- comparative genomic hybridization array (CGH) --- viltolarsen --- eteplirsen --- golodirsen --- rheumatoid arthritis --- SNP --- DMARD --- methotrexate --- pharmacogenomics --- Duchenne muscular dystrophy --- pharmacodynamic biomarkers --- prednisone --- deflazacort --- glucocorticoids --- corticosteroids --- safety --- neuromuscular diseases --- translational research --- disease models --- precision medicine --- miRNA --- proteomics --- calprotectin --- dystrophy --- Becker muscular dystrophy --- dystrophinopathy --- genotype-phenotype correlations --- Canadian Neuromuscular Disease Registry --- reading frame rule --- dystrophin --- multiple logistic regression analysis --- exon skipping therapy --- Amyotrophic Lateral Sclerosis --- machine learning --- genome-wide association studies --- GWAS --- genomics --- ALS pathology --- gene prioritization --- AAV --- genetic neuromuscular disorders --- gene therapy --- clinical trials --- toxicity --- SMA --- DMD --- XLMTM --- facioscapulohumeral dystrophy --- TALEN --- CRISPR-Cas9 --- gene editing --- polyadenylation --- D4Z4 --- duchenne muscular dystrophy (DMD) --- becker muscular dystrophy (BMD) --- exon skipping --- skip-equivalent deletions --- n/a --- Emery-Dreifuss muscular dystrophy --- genotype-phenotype
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