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Genetic Conditions Affecting the Skeleton : Congenital, Idiopathic Scoliosis and Arthrogryposis
| Genetic Conditions Affecting the Skeleton : Congenital, Idiopathic Scoliosis and Arthrogryposis |
| Autore | Giampietro Philip |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 electronic resource (172 p.) |
| Soggetto topico |
Research & information: general
Biology, life sciences Genetics (non-medical) |
| Soggetto non controllato |
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 |
| ISBN | 3-0365-5976-0 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Genetic Conditions Affecting the Skeleton |
| Record Nr. | UNINA-9910639995403321 |
Giampietro Philip
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Rare Respiratory Diseases: A Personal and a Public Health Problem
| Rare Respiratory Diseases: A Personal and a Public Health Problem |
| Autore | Dasí Francisco |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (242 p.) |
| Soggetto topico |
Medicine and Nursing
Pharmacology |
| Soggetto non controllato |
active lifestyle
ALI culture alpha-1 antitrypsin deficiency Alpha-1 antitrypsin deficiency alpha-1-antitrypsin deficit alpha1 antitrypsin deficiency alpha1-antitrypsin deficiency antibody antioxidant therapies asthma augmentation therapy bio-resource bronchiectasis chronic obstructive pulmonary disease cilia clinical presentation cystic fibrosis diagnostics emphysema endoplasmic reticulum stress exhaled breath condensate flow cytometry gamma-glutamyl transpeptidase gene therapy glutamate-oxaloacetate transaminase glutamate-pyruvate transaminase idiopathic pulmonary fibrosis immunofluorescence infection control measure laterality defect liver disease miRNA expression Mycobacterium avium Mycobacterium intracellulare n/a nasal epithelium neonatal respiratory distress nodular bronchiectasis non-tuberculous mycobacteria orphan diseases oxidative stress PCD primary ciliary dyskinesia primary nasal epithelium pulmonary aspergillosis pulmonary exacerbation rare diseases rare pulmonary disease rare respiratory diseases reactive oxygen species reference centres replacement therapy resilience self-quarantine severity sputum standard diagnosis stress levels transient elastography |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Rare Respiratory Diseases |
| Record Nr. | UNINA-9910566479403321 |
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Dasí Francisco
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Sperm Differentiation and Spermatozoa Function: Mechanisms, Diagnostics, and Treatment
| Sperm Differentiation and Spermatozoa Function: Mechanisms, Diagnostics, and Treatment |
| Autore | Avidor-Reiss Tomer |
| Pubbl/distr/stampa | Frontiers Media SA, 2020 |
| Descrizione fisica | 1 online resource (290 p.) |
| Soggetto topico |
Biology, life sciences
Science: general issues |
| Soggetto non controllato |
capacitation
centriole cilia contraceptive pill manchette piRNA sperm spermatogenesis |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Sperm Differentiation and Spermatozoa Function |
| Record Nr. | UNINA-9910557675203321 |
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Avidor-Reiss Tomer
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| Frontiers Media SA, 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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The Role of PPARs in Disease
| The Role of PPARs in Disease |
| Autore | Wagner Nicole |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (274 p.) |
| Soggetto topico |
Medicine and Nursing
Physiology |
| Soggetto non controllato |
addiction
adipogenesis AKI alcohol Alzheimer's Alzheimer's disease (AD) angiogenesis animal models cancer cellular metabolism cilia CKD cognition coronary artery CYP450 cystogenesis dominant-negative isoform eicosanoids endothelial cells fatty acids fetal programming fibrosis folate growth suppressors human studies hypertrophic adipocytes hypertrophic obesity immortality immune system in vitro adipocytes inflammation inherited metabolic disorders insulin-resistance kidney ligand ligands lipidomics lipids metabolic syndrome metastasis metastasis formation modulators nephron nicotine non-alcoholic fatty liver disease (NAFLD) non-alcoholic steatohepatitis (NASH) nuclear receptors obesity opioids peroxisome proliferator activated receptors peroxisome proliferator-activated receptor peroxisome proliferator-activated receptor-γ coactivator-1α peroxisome proliferator-activated receptors (PPARs) peroxisome-proliferator activated receptors PGC-1α, disease pharmacology PKD PPAR PPARG isoforms PPARG splicing PPARs PPARα proliferation psychostimulants resistance to cell death risk factors RNA sequencing sex Sirtuin1 synthetic agonists therapy toxicology tumor angiogenesis tumor progression vascular vitamin B12 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910566482503321 |
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Wagner Nicole
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Ubiquitination in Health and Diseases
| Ubiquitination in Health and Diseases |
| Autore | Ishigami Tomoaki |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 online resource (292 p.) |
| Soggetto topico |
Humanities
Social interaction |
| Soggetto non controllato |
aggregation
aldosterone sensitive distal nephron blood pressure cancer cilia ciliogenesis ciliopathy cortical bone derived stem cell degradation deubiquitinase deubiquitinases deubiquitination differentiation disulfide-coupling dopa-responsive dystonia DUBs E3 ubiquitin ligase E3s endoplasmic reticulum stress epithelial sodium channel excitation-transcription coupling fatty acid-binding protein 3 fibrils genetic diseases hematopoiesis hematopoietic stem cells immune response immune-related diseases inflammation inhibitor inhibitors innate immune interferon LUBAC mesenchymal stem cell mitochondria MITOL/MARCH5 monoubiquitin signaling mTOR myocardial infarction Nedd4L/Nedd4-2 neurodegeneration neurodegenerative disease NF-κB osmotic stress Parkinson's disease polyubiquitin proliferation proteasomal degradation protein complex formation protein quality control protein stabilization proteolysis regulation of gene expression regulatory T cells renal salt reabsorption RING finger RNF152 RNF182 RNF183 RNF186 salt-sensitive hypertension semisynthesis tau protein therapeutic target tyrosine hydroxylase ubiquitin ubiquitin code ubiquitin ligase ubiquitin proteasome system ubiquitin system ubiquitin-proteasome pathway ubiquitin-proteasome system ubiquitination UPS vascular function vesicular trafficking virus infection virus-host interaction α-synuclein |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557356403321 |
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Ishigami Tomoaki
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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