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