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ABC Transporters in Human Diseases
| ABC Transporters in Human Diseases |
| Autore | Falguières Thomas |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 online resource (494 p.) |
| Soggetto topico |
Biology, life sciences
Research & information: general |
| Soggetto non controllato |
5' untranslated region
AAV ABC ABC (ATP-binding cassette) transporters ABC transporter ABC transporters ABCA subfamily ABCA7 ABCB1 ABCB11 ABCB4 ABCC2 ABCC6 ABCG2 ABCG2 genotype ABCG5 ABCG5/G8 ABCG8 adrenoleukodystrophy Alzheimer's disease amyloid-beta anticancer antifungal resistance atherosclerosis ATP-binding cassette transporter ATP-binding cassette transporter A1 (ABCA1) Aβ peptides BCRP beta-amyloid bile salts bile secretion bioinformatics blood-brain barrier breast cancer BRIC BSEP calcification cAMP cancer cellular ATP efflux chaperones cholesterol cholesterol homeostasis cis-acting elements clinico-genetic analysis competitive allele-specific PCR disease-free survival drug action drug transport dyslipidemia early-onset gout erlotinib ethnic specificity fatty acids functional divergence gall stone gene therapy generalized arterial calcification of infancy genetic variations gout HDL-C homology modeling hyperuricemia intracellular traffic intrahepatic cholestasis invasion MDR3 mechanism mechanism of action membrane protein microparticles migration molecular partners MRP1 MRP4 multidrug resistance multidrug transporter mutagenesis mutations n/a neuron next-generation sequencing NT5E P-glycoprotein peroxisome PET PFIC PFIC2 phagocytosis phosphatidylcholine phytosterol polar relay polymorphisms precision medicine proliferation pseudoxanthoma elasticum Pseudoxanthoma elasticum (PXE) pyrophosphate RAB GTPase rare variant regulatory extension regulatory insertion reverse cholesterol transport Roma serum uric acid single nucleotide polymorphism sitosterolemia SK-N-SH SNP SUA-lowering therapy substrate-binding site tariquidar taxol therapies therapy response TNAP trafficking transport transporter type 2 diabetes urate urate transporter uric acid xenosterol yeast |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910674029103321 |
Falguières Thomas
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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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 |
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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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