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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 electronic resource (242 p.) |
| Soggetto topico |
Medicine
Pharmacology |
| Soggetto non controllato |
standard diagnosis
reference centres clinical presentation cilia primary ciliary dyskinesia alpha-1 antitrypsin deficiency rare respiratory diseases Mycobacterium avium Mycobacterium intracellulare nodular bronchiectasis non-tuberculous mycobacteria pulmonary aspergillosis rare pulmonary disease miRNA expression exhaled breath condensate sputum severity pulmonary exacerbation alpha1 antitrypsin deficiency augmentation therapy replacement therapy rare diseases gene therapy alpha-1-antitrypsin deficit cystic fibrosis neonatal respiratory distress laterality defect orphan diseases PCD immunofluorescence antibody ALI culture bio-resource primary nasal epithelium diagnostics Alpha-1 antitrypsin deficiency liver disease glutamate-oxaloacetate transaminase glutamate-pyruvate transaminase gamma-glutamyl transpeptidase resilience active lifestyle stress levels infection control measure self-quarantine flow cytometry nasal epithelium oxidative stress reactive oxygen species endoplasmic reticulum stress antioxidant therapies idiopathic pulmonary fibrosis chronic obstructive pulmonary disease bronchiectasis asthma emphysema alpha1-antitrypsin deficiency 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 electronic resource (290 p.) |
| Soggetto topico |
Science: general issues
Biology, life sciences |
| Soggetto non controllato |
spermatogenesis
sperm capacitation manchette centriole cilia contraceptive pill piRNA |
| 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 electronic resource (274 p.) |
| Soggetto topico |
Medicine
Physiology |
| Soggetto non controllato |
peroxisome-proliferator activated receptors
tumor angiogenesis tumor progression metastasis formation endothelial cells RNA sequencing PPARs toxicology pharmacology ligand vascular coronary artery lipidomics eicosanoids inflammation CYP450 peroxisome proliferator-activated receptor angiogenesis proliferation metastasis immortality resistance to cell death growth suppressors immune system cellular metabolism PPAR nuclear receptors addiction alcohol nicotine opioids psychostimulants animal models human studies Alzheimer’s risk factors PPARα lipids fatty acids modulators cognition sex therapy hypertrophic adipocytes PPARG isoforms PPARG splicing dominant-negative isoform in vitro adipocytes adipogenesis hypertrophic obesity insulin-resistance peroxisome proliferator-activated receptors (PPARs) synthetic agonists non-alcoholic fatty liver disease (NAFLD) non-alcoholic steatohepatitis (NASH) fibrosis Sirtuin1 peroxisome proliferator-activated receptor-γ coactivator-1α peroxisome proliferator activated receptors obesity metabolic syndrome vitamin B12 folate fetal programming inherited metabolic disorders PGC-1α, disease kidney cancer AKI CKD nephron PKD cilia cystogenesis ligands Alzheimer’s disease (AD) |
| 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 electronic resource (292 p.) |
| Soggetto topico |
Humanities
Social interaction |
| Soggetto non controllato |
deubiquitinase
degradation therapeutic target cancer hematopoiesis hematopoietic stem cells immune response regulation of gene expression ubiquitin system genetic diseases ubiquitin ligase deubiquitinases monoubiquitin signaling vesicular trafficking protein complex formation inflammation inhibitor innate immune interferon LUBAC NF-κB ubiquitin Parkinson’s disease dopa-responsive dystonia tyrosine hydroxylase α-synuclein fatty acid-binding protein 3 ubiquitination proteasomal degradation ubiquitin-proteasome system mitochondria E3 ubiquitin ligase MITOL/MARCH5 salt-sensitive hypertension Nedd4L/Nedd4-2 epithelial sodium channel aldosterone sensitive distal nephron excitation-transcription coupling RNF183 RNF186 RNF182 RNF152 RING finger mTOR endoplasmic reticulum stress osmotic stress ubiquitin code virus infection virus-host interaction tau protein semisynthesis disulfide-coupling polyubiquitin fibrils aggregation neurodegeneration deubiquitination inhibitors protein quality control proteolysis protein stabilization regulatory T cells mesenchymal stem cell cortical bone derived stem cell myocardial infarction blood pressure renal salt reabsorption vascular function ubiquitin proteasome system ubiquitin–proteasome pathway cilia ciliogenesis differentiation proliferation ciliopathy E3s DUBs UPS neurodegenerative disease immune-related diseases |
| 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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