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In this Special Issue of Genes entitled “Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis”, evidence is presented that suggests that congenital, idiopathic scoliosis, and arthrogryposis share similar overlapping, but also distinct, etiopathogenic mechanisms, including connective tissue and neuromuscular mechanisms. Congenital scoliosis (CS) is defined by the presence of an abnormal spinal curvature, due to an underlying vertebral bony malformation (VM). Idiopathic scoliosis (IS) is defined by the presence of an abnormal structural spinal curvature of ≥10 degrees in the sagittal plane, in the absence of an underlying VM. Arthrogryposis is defined by the presence of congenital contractures in two or more joints of the appendicular skeleton. All three conditions have complex genetic causes. This Special Issue highlights the complex nature of these conditions and current concepts in our approach to better understand their genetics.

Research & information: general --- Biology, life sciences --- Genetics (non-medical) --- spinal curvatures --- scoliosis --- idiopathic --- DNA methylation --- pyrosequencing --- estrogen receptor 1 --- ESR1 --- scoliosis progression --- adolescent idiopathic scoliosis --- idiopathic scoliosis --- exome sequencing --- spine --- polygenic --- variants --- musculoskeletal disease --- cytoskeleton --- extracellular matrix --- contracture --- arthrogryposis --- congenital --- POC5 --- cilia --- genetics --- spine deformity --- genetic predisposition --- complex trait --- model animal --- genome wide association study --- genetic linkage study --- Amyoplasia --- DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources) --- CNV (copy number variant) --- DA (distal arthrogryposis) --- IPA (ingenuity pathway analysis) --- HPO (human phenotype ontology) --- akinesia --- MYOD --- IGF2 --- FGFR1 (Fibroblast growth factor receptor 1) --- genetic variations --- congenital scoliosis --- monozygotic twin --- epigenome-wide association study --- bone --- discordant --- curve severity --- differentially methylated region --- congenital vertebral malformation --- copy number variant --- CNV --- CHRNG --- distal arthrogryposis type 8 --- Escobar --- multiple pterygium syndrome --- MYH3 --- protein tyrosine kinase 7 (PTK7) --- whole exome sequencing --- n/a

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The regenerative and immunomodulatory properties of mesenchymal stem cells (MSCs) have made these cells the focus of multiple pre-clinical studies and clinical trials. While the results from these clinical studies have established that MSCs are safe, the efficacy of these cells is not as well-established. In this regard, there have been increased efforts towards generating potentiated/activated MSCs with enhanced therapeutic efficacy. Research on the mechanisms for enhancing MSC potency and efficacy is an area of active study with great potential for translation into clinical settings. The purpose of this book is to bring together recent research from a broad range of topics relating to potentiation strategies for enhancing MSC therapeutic efficacy, including growth factor pre-conditioning, hypoxia, and 3D culture. The research compiled in this book increases the basic understanding of MSC culture techniques and describes some MSC preparations for potential novel therapeutic applications.

cell therapy --- immunomodulation --- polyunsaturated fatty acid --- CD206 --- phagocytosis --- mesenchymal stem cells --- Vadadustat --- AKB-6548 --- preconditioning --- priming --- secretome --- chemotaxis --- Wharton’s jelly mesenchymal stem cells --- umbilical cord --- oxygen conditions --- secretory profile --- neuroprotection --- mesenchymal stromal cells --- 3D culture --- neurospheres --- spheroids --- pluripotency --- neural --- quiescence --- mesothelioma --- malignant pleural mesothelioma (MPM) --- liver cirrhosis --- placenta-derived mesenchymal stem cells --- WKYMVm --- combination therapy --- iPSC-derived MSCs --- iMSC secretome --- pre-conditioning --- angiogenesis --- IFN-γ --- hypoxia --- potentiation of iMSC efficacy --- nanofiber-hydrogel composite --- spinal cord injury --- inflammation --- macrophages --- secondary injury --- astrocytes --- axon growth --- adipose tissue-derived stem cells (ASCs) --- autophagy --- rapamycin --- 3-methyladenine --- immunosuppression --- exosome --- engineered cardiac patches --- adipose-derived stem cell --- paracrine potential --- osteogenic differentiation --- hepatocyte growth factor --- fibroblast growth factor 2

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This Special Issue, entitled "Synthetic Peptides and Peptidomimetics: From Basic Science to Biomedical Applications", has included both reviews and original research contributions focused on the chemical design and biomedical applications of structurally modified bioactive peptides. The papers collected show how successful this class of molecules still is, both as model molecules for studying the structure of proteins and as potential therapeutics and diagnostics, and also as laboratory tools for advanced basic and applied studies. The large scientific community working in this field is in fact very active and productive, and is making the most of the potential and versatility of these molecules to generate increasingly interesting and innovative molecules of therapeutic interest and to understand the fundamental molecular mechanisms of life.

Research & information: general --- Biology, life sciences --- polymers --- peptidomimetics --- AFM --- transfection --- molecular modelling --- peptide --- α-helix --- hydrocarbon stapling --- ring-closing metathesis --- i,i + 1 staple --- X-ray structure --- deferoxamine --- RGD peptides --- integrins --- radiodiagnostics --- PET imaging --- retro-inverso peptides --- anticancer peptides --- drug delivery --- peptide antigens --- Aβ --- IAPP --- antimicrobial peptides --- peptides --- diagnostic --- ELISA --- microarray --- PET --- SPECT --- imaging diagnostic --- non-imaging diagnostic --- amphiphilic peptides --- non-viral gene delivery --- nanocarrier --- peptide self-assemblies --- stimuli responsive --- SARS-CoV-2 --- FRET --- molecular docking --- molecular dynamics --- MM-GBSA --- drug repurposing --- antiviral --- cancer --- cyclic peptide --- integrin --- αvβ3 --- ALOS4 --- melanoma --- fluorescent peptide --- environment-sensitive fluorophore --- peptide labeling --- luciferin --- membrane-binding peptide --- antimicrobial peptide --- antitumor peptide --- RGD peptide --- antiproliferative activity --- chirality --- conformational analysis --- density functional theory (DFT) --- ferrocene --- hydrogen bonds --- peptidomimetic --- X-ray --- protein–protein interactions (PPIs) --- voltage-gated Na+ (Nav) channels --- fibroblast growth factor 14 (FGF14) --- medium spiny neurons (MSNs) --- nucleus accumbens (NAc) --- neurotherapeutics --- cyclophilin A (CypA) --- apoptosis-inducing factor (AIF) --- human neuroblastoma SH-SY5Y cells --- staurosporine-mediated cell death --- AIF(370-394) peptide --- caspase-3 --- PARP --- antifungal --- antibacterial --- peptide-based therapies --- synthetic peptides --- polymers --- peptidomimetics --- AFM --- transfection --- molecular modelling --- peptide --- α-helix --- hydrocarbon stapling --- ring-closing metathesis --- i,i + 1 staple --- X-ray structure --- deferoxamine --- RGD peptides --- integrins --- radiodiagnostics --- PET imaging --- retro-inverso peptides --- anticancer peptides --- drug delivery --- peptide antigens --- Aβ --- IAPP --- antimicrobial peptides --- peptides --- diagnostic --- ELISA --- microarray --- PET --- SPECT --- imaging diagnostic --- non-imaging diagnostic --- amphiphilic peptides --- non-viral gene delivery --- nanocarrier --- peptide self-assemblies --- stimuli responsive --- SARS-CoV-2 --- FRET --- molecular docking --- molecular dynamics --- MM-GBSA --- drug repurposing --- antiviral --- cancer --- cyclic peptide --- integrin --- αvβ3 --- ALOS4 --- melanoma --- fluorescent peptide --- environment-sensitive fluorophore --- peptide labeling --- luciferin --- membrane-binding peptide --- antimicrobial peptide --- antitumor peptide --- RGD peptide --- antiproliferative activity --- chirality --- conformational analysis --- density functional theory (DFT) --- ferrocene --- hydrogen bonds --- peptidomimetic --- X-ray --- protein–protein interactions (PPIs) --- voltage-gated Na+ (Nav) channels --- fibroblast growth factor 14 (FGF14) --- medium spiny neurons (MSNs) --- nucleus accumbens (NAc) --- neurotherapeutics --- cyclophilin A (CypA) --- apoptosis-inducing factor (AIF) --- human neuroblastoma SH-SY5Y cells --- staurosporine-mediated cell death --- AIF(370-394) peptide --- caspase-3 --- PARP --- antifungal --- antibacterial --- peptide-based therapies --- synthetic peptides

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Mounting evidence suggests a bidirectional relationship between metabolism and inflammation. Molecular crosstalk between these processes occurs at different levels with the participation of nuclear receptors, including peroxisome proliferator-activated receptors (PPARs). There are three PPAR isotypes, α, β/δ, and γ, which modulate metabolic and inflammatory pathways, making them key for the control of cellular, organ, and systemic processes. PPAR activity is governed by fatty acids and fatty acid derivatives, and by drugs used in clinics (glitazones and fibrates). The study of PPAR action, also modulated by post-translational modifications, has enabled extraordinary advances in the understanding of the multifaceted roles of these receptors in metabolism, energy homeostasis, and inflammation both in health and disease. This Special Issue of IJMS includes a broad range of basic and translational article, both original research and reviews, focused on the latest developments in the regulation of metabolic and/or inflammatory processes by PPARs in all organs and the microbiomes of different vertebrate species.

Research & information: general --- Biology, life sciences --- Biochemistry --- nuclear receptor --- gene transcription --- inflammation --- molecular docking --- PPARβ/δ --- lung --- pulmonary artery --- GW0742 --- GSK3787 --- docking --- lipopolysaccharide (LPS) --- PPARγ ligand --- coumarin --- fluorescent ligand --- screening --- crystal structure --- PPAR --- atopic dermatitis --- psoriasis --- metabolic reprograming --- glucose --- fatty acids --- mycobacteria --- M. tuberculosis --- M. leprae --- PPARs --- lipid droplets --- metabolic alterations --- hepatic damage --- nuclear factors --- pharmacological targets --- AMPK --- GDF15 --- insulin resistance --- type 2 diabetes mellitus --- peroxisome proliferator-activated receptor gamma (PPARγ) --- real-time PCR --- ELISA --- immunohistochemistry --- signaling pathway --- PPAR gamma --- brain --- neural stem cells --- infection --- neuroinflammation --- HIV --- Zika --- cytomegalovirus --- neurogenesis --- microglia --- liver damage --- toll-like receptor 4 --- P2Y2 receptor --- metabolic syndrome --- resveratrol --- quercetin --- PPARα --- peroxisome --- β-oxidation --- PPRE --- ligand --- coregulator --- micronutrients --- PPARα knockout --- adipose tissue --- browning --- lipid metabolism --- depression --- PPARg --- neuropathology --- corticotropin releasing hormone --- norepinephrine --- subgenual prefrontal cortex --- amygdala --- nucleus accumbens --- common carotid artery occlusion --- electroretinography --- fibroblast growth factor 21 --- pemafibrate --- peroxisome proliferator-activated receptor alpha --- retinal ischemia --- skeletal muscle --- substrate metabolism --- nonalcoholic fatty liver disease (NAFLD) --- sex dimorphism --- lipidomics --- hepatic sex-biased gene expression --- PPARγ --- pulmonary arterial hypertension --- TGFβ --- vascular injury --- proliferation --- kidney fibrosis --- pattern-recognition receptors --- phagocytosis --- nitric oxide synthase --- fenofibrate --- oleoylethanolamide --- palmitoylethanolamide --- cancer --- immunity --- obesity --- diabetes --- miRNA --- DNA methylation --- histone modification --- peroxisome-proliferator-activated receptor --- fatty acid oxidation --- doping control --- regulatory T cells --- exercise --- nuclear receptors --- nutrigenomics --- energy homeostasis --- dairy animals --- non-alcoholic fatty liver disease (NAFLD) --- non-alcoholic steatohepatitis (NASH) --- peroxisome proliferator-activated receptors (PPAR) --- bezafibrate --- fenofibric acid --- peroxisome proliferator-activated receptor --- dual/pan agonist --- X-ray crystallography --- n/a

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Mounting evidence suggests a bidirectional relationship between metabolism and inflammation. Molecular crosstalk between these processes occurs at different levels with the participation of nuclear receptors, including peroxisome proliferator-activated receptors (PPARs). There are three PPAR isotypes, α, β/δ, and γ, which modulate metabolic and inflammatory pathways, making them key for the control of cellular, organ, and systemic processes. PPAR activity is governed by fatty acids and fatty acid derivatives, and by drugs used in clinics (glitazones and fibrates). The study of PPAR action, also modulated by post-translational modifications, has enabled extraordinary advances in the understanding of the multifaceted roles of these receptors in metabolism, energy homeostasis, and inflammation both in health and disease. This Special Issue of IJMS includes a broad range of basic and translational article, both original research and reviews, focused on the latest developments in the regulation of metabolic and/or inflammatory processes by PPARs in all organs and the microbiomes of different vertebrate species.

nuclear receptor --- gene transcription --- inflammation --- molecular docking --- PPARβ/δ --- lung --- pulmonary artery --- GW0742 --- GSK3787 --- docking --- lipopolysaccharide (LPS) --- PPARγ ligand --- coumarin --- fluorescent ligand --- screening --- crystal structure --- PPAR --- atopic dermatitis --- psoriasis --- metabolic reprograming --- glucose --- fatty acids --- mycobacteria --- M. tuberculosis --- M. leprae --- PPARs --- lipid droplets --- metabolic alterations --- hepatic damage --- nuclear factors --- pharmacological targets --- AMPK --- GDF15 --- insulin resistance --- type 2 diabetes mellitus --- peroxisome proliferator-activated receptor gamma (PPARγ) --- real-time PCR --- ELISA --- immunohistochemistry --- signaling pathway --- PPAR gamma --- brain --- neural stem cells --- infection --- neuroinflammation --- HIV --- Zika --- cytomegalovirus --- neurogenesis --- microglia --- liver damage --- toll-like receptor 4 --- P2Y2 receptor --- metabolic syndrome --- resveratrol --- quercetin --- PPARα --- peroxisome --- β-oxidation --- PPRE --- ligand --- coregulator --- micronutrients --- PPARα knockout --- adipose tissue --- browning --- lipid metabolism --- depression --- PPARg --- neuropathology --- corticotropin releasing hormone --- norepinephrine --- subgenual prefrontal cortex --- amygdala --- nucleus accumbens --- common carotid artery occlusion --- electroretinography --- fibroblast growth factor 21 --- pemafibrate --- peroxisome proliferator-activated receptor alpha --- retinal ischemia --- skeletal muscle --- substrate metabolism --- nonalcoholic fatty liver disease (NAFLD) --- sex dimorphism --- lipidomics --- hepatic sex-biased gene expression --- PPARγ --- pulmonary arterial hypertension --- TGFβ --- vascular injury --- proliferation --- kidney fibrosis --- pattern-recognition receptors --- phagocytosis --- nitric oxide synthase --- fenofibrate --- oleoylethanolamide --- palmitoylethanolamide --- cancer --- immunity --- obesity --- diabetes --- miRNA --- DNA methylation --- histone modification --- peroxisome-proliferator-activated receptor --- fatty acid oxidation --- doping control --- regulatory T cells --- exercise --- nuclear receptors --- nutrigenomics --- energy homeostasis --- dairy animals --- non-alcoholic fatty liver disease (NAFLD) --- non-alcoholic steatohepatitis (NASH) --- peroxisome proliferator-activated receptors (PPAR) --- bezafibrate --- fenofibric acid --- peroxisome proliferator-activated receptor --- dual/pan agonist --- X-ray crystallography --- n/a