about
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valineAlterations of the cytoskeleton in human cells in space proved by life-cell imaging.Identification of the BRD1 interaction network and its impact on mental disorder riskA Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing ImpairmentMutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationshipThe ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular levelClear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.Quantitative proteomics reveals cellular targets of celastrolSNAP-25-associated Hrs-2 protein colocalizes with AQP2 in rat kidney collecting duct principal cells.Protein misfolding and degradation in genetic diseases.A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.Adeno-associated virus-delivered polycistronic microRNA-clusters for knockdown of vascular endothelial growth factor in vivo.Reduction of choroidal neovascularization in mice by adeno-associated virus-delivered anti-vascular endothelial growth factor short hairpin RNA.Expression of the RAI gene is conducive to apoptosis: studies of induction and interference.Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate dispositionCommon Effects on Cancer Cells Exerted by a Random Positioning Machine and a 2D Clinostat.Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel.Robust Lentiviral Gene Delivery But Limited Transduction Capacity of Commonly Used Adeno-Associated Viral Serotypes in Xenotransplanted Human Skin.The Importance of Caveolin-1 as Key-Regulator of Three-Dimensional Growth in Thyroid Cancer Cells Cultured under Real and Simulated Microgravity Conditions.Pathways Regulating Spheroid Formation of Human Follicular Thyroid Cancer Cells under Simulated Microgravity Conditions: A Genetic Approach.Identifications of novel mechanisms in breast cancer cells involving duct-like multicellular spheroid formation after exposure to the Random Positioning MachineEffects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.DNA transposition by protein transduction of the piggyBac transposase from lentiviral Gag precursorsUpdate on the keratoconus genetics.Antiangiogenic Eye Gene Therapy.Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene.The impact of microgravity on bone in humans.Mechanisms of three-dimensional growth of thyroid cells during long-term simulated microgravity.Identification of proteins involved in inhibition of spheroid formation under microgravity.Differential gene expression of human chondrocytes cultured under short-term altered gravity conditions during parabolic flight maneuvers.An eEF1A1 truncation encoded by PTI-1 exerts its oncogenic effect inside the nucleus.A cell model to study different degrees of Hsp60 deficiency in HEK293 cells.Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206.Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus.Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation.The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.LDL receptor-GFP fusion proteins: new tools for the characterisation of disease-causing mutations in the LDL receptor gene.Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation.Multigenic lentiviral vectors for combined and tissue-specific expression of miRNA- and protein-based antiangiogenic factors
P50
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P50
description
hulumtues
@sq
researcher
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wetenschapper
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հետազոտող
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name
Thomas Juhl Corydon
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Thomas Juhl Corydon
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Thomas Juhl Corydon
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Thomas Juhl Corydon
@nl
Thomas Juhl Corydon
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type
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Thomas Juhl Corydon
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Thomas Juhl Corydon
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Thomas Juhl Corydon
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Thomas Juhl Corydon
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Thomas Juhl Corydon
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prefLabel
Thomas Juhl Corydon
@ast
Thomas Juhl Corydon
@en
Thomas Juhl Corydon
@es
Thomas Juhl Corydon
@nl
Thomas Juhl Corydon
@sl
P106
P21
P31
P496
0000-0003-3588-6350