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 | ||
Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
|
Multi-Omics for the Understanding of Brain Diseases |
Autore | Yoon Jong |
Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
Descrizione fisica | 1 electronic resource (204 p.) |
Soggetto topico | Research & information: general |
Soggetto non controllato |
schizophrenia
abnormal behavior gene set region differentially expressed genes de novo mutation copy number variant SIDS newborn infant genetic polymorphism neurotransmitter epigenetics epigenome zinc finger domain zinc finger motif zinc finger proteins zinc metalloproteins flow infusion analysis chloride adducts ceramides sphingolipids glycerophosphocholines human brain NAD+ nicotinamide ageing plasma biomarker CNV PPI spatiotemporal network chromosome 22q11.21 DGCR8 Orthosiphon stamineus plant-derived proteins neuroprotective SH-SY5Y cell model hydrogen peroxide CSF miRNAs neurological diseases OpenArray morphine withdrawal brain proteomics synaptic plasticity Alzheimer's disease microfluidics lab-on-chip 3D culture organ-on-chip |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | eng |
Record Nr. | UNINA-9910557349303321 |
Yoon Jong | ||
Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
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