List of works - Thomas Juhl Corydon

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

scientific journal article

A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing

scientific article published on 27 June 2018

A cell model to study different degrees of Hsp60 deficiency in HEK293 cells.

scientific article published on 30 June 2011

A human homologue of Escherichia coli ClpP caseinolytic protease: recombinant expression, intracellular processing and subcellular localization ⬇️

scientific article published on April 1, 1998

A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus

scientific article published on 17 January 2012

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.

scientific article

Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation

scientific article

Adeno-associated virus-delivered polycistronic microRNA-clusters for knockdown of vascular endothelial growth factor in vivo.

scientific article

Alterations of the cytoskeleton in human cells in space proved by life-cell imaging

scientific article

An eEF1A1 truncation encoded by PTI-1 exerts its oncogenic effect inside the nucleus.

scientific article published on 26 February 2014

An inventory of interactors of the human HSP60/HSP10 chaperonin in the mitochondrial matrix space

scientific article published on 14 February 2020

Antiangiogenic Eye Gene Therapy

scientific article published on 29 July 2015

Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders

scientific article published on 25 September 2015

Associations between the Complement System and Choroidal Neovascularization in Wet Age-Related Macular Degeneration

scientific article published on 21 December 2020

Augmenting cancer cell proteomics with cellular images - A semantic approach to understand focal adhesion

scientific article published on 24 October 2019

Brain volumetric alterations accompanied with loss of striatal medium-sized spiny neurons and cortical parvalbumin expressing interneurons in Brd1 mice

scientific article published in Scientific Reports

CRISPR Gene Therapy of the Eye: Targeted Knockout of Vegfa in Mouse Retina by Lentiviral Delivery

scientific article published on 01 January 2019

Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts

scientific article published on 3 April 2014

Changes in Human Foetal Osteoblasts Exposed to the Random Positioning Machine and Bone Construct Tissue Engineering ⬇️

scientific article published on 18 March 2019

Characteristics of human infant primary fibroblast cultures from Achilles tendons removed post-mortem

scientific article

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

scientific article

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

scientific article published on August 1999

Common Effects on Cancer Cells Exerted by a Random Positioning Machine and a 2D Clinostat.

scientific article published on 14 August 2015

Current knowledge about the impact of microgravity on the proteome

scientific article published on 29 November 2018

DNA transposition by protein transduction of the piggyBac transposase from lentiviral Gag precursors

scientific article

Decreased E-Cadherin in MCF7 Human Breast Cancer Cells Forming Multicellular Spheroids Exposed to Simulated Microgravity.

scientific article

Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).

scientific article

Development of Multigenic Lentiviral Vectors for Cell-Specific Expression of Antiangiogenic miRNAs and Protein Factors

scientific article published in January 2018

Dexamethasone Inhibits Spheroid Formation of Thyroid Cancer Cells Exposed to Simulated Microgravity

scientific article published on 05 February 2020

Differential gene expression of human chondrocytes cultured under short-term altered gravity conditions during parabolic flight maneuvers.

scientific article published on 20 March 2015

Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus

scientific article published on 7 October 2009

Dominant negative SERPING1 variants cause intracellular retention of C1-inhibitor in hereditary angioedema

scientific article published on 10 December 2018

Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.

scientific article published on 07 October 2016

Efficient Knockdown and Lack of Passenger Strand Activity by Dicer-Independent shRNAs Expressed from Pol II-Driven MicroRNA Scaffolds

scientific article published on 01 December 2018

Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer

scientific article published in April 2003

Expression of the RAI gene is conducive to apoptosis: studies of induction and interference

scientific article

Further immunohistochemical characterization of BRD1 a new susceptibility gene for schizophrenia and bipolar affective disorder.

scientific article published on 10 September 2009

Growing blood vessels in space: Preparation studies of the SPHEROIDS project using related ground-based studies

scientific article published in 2019

Growth of Endothelial Cells in Space and in Simulated Microgravity - a Comparison on the Secretory Level

scientific article published on 01 January 2019

Grp78 Is Involved in Retention of Mutant Low Density Lipoprotein Receptor Protein in the Endoplasmic Reticulum

scientific article published in Journal of Biological Chemistry

Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice

scientific article

Heat stress and sudden infant death syndrome--stress gene expression after exposure to moderate heat stress.

scientific article

Identification of proteins involved in inhibition of spheroid formation under microgravity

scientific article published on 29 April 2015

Identification of the BRD1 interaction network and its impact on mental disorder risk

scientific journal article

Identifications of novel mechanisms in breast cancer cells involving duct-like multicellular spheroid formation after exposure to the Random Positioning Machine

scientific article published on 27 May 2016

Improved Lentiviral Gene Delivery to Mouse Liver by Hydrodynamic Vector Injection through Tail Vein

article

Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?

scientific article published on 11 February 2020

Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene.

scientific article

Influence of Microgravity on Apoptosis in Cells, Tissues, and Other Systems In Vivo and In Vitro

scientific article published on 09 December 2020

In Vivo Knockout of the Vegfa Gene by Lentiviral Delivery of CRISPR/Cas9 in Mouse Retinal Pigment Epithelium Cells.

scientific article published on 21 September 2017

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 [...]

scientific article

LDL receptor-GFP fusion proteins: new tools for the characterisation of disease-causing mutations in the LDL receptor gene

scientific article published on November 2001

Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice

scientific article published on 4 March 2013

Mechanisms of three-dimensional growth of thyroid cells during long-term simulated microgravity.

scientific article published on 18 November 2015

Microgravity Affects Thyroid Cancer Cells during the TEXUS-53 Mission Stronger than Hypergravity ⬇️

scientific article published on 12 December 2018

Mitochondrial fatty acid oxidation defects--remaining challenges.

scientific article published on 7 October 2008

Moderate alterations of the cytoskeleton in human chondrocytes after short-term microgravity produced by parabolic flight maneuvers could be prevented by up-regulation of BMP-2 and SOX-9.

scientific article published on 13 February 2015

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

scientific article published on 18 May 2012

Morphological and Molecular Changes in Juvenile Normal Human Fibroblasts Exposed to Simulated Microgravity

scientific article published on 15 August 2019

Multigenic lentiviral vectors for combined and tissue-specific expression of miRNA- and protein-based antiangiogenic factors

scientific article published on 28 January 2015

Mutant epidermal growth factor receptor in benign, borderline, and malignant ovarian tumors

scientific article published on 01 June 2008

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

scientific article (publication date: September 2001)

Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules ⬇️

scientific article published on November 11, 2011

OATP1B1 Polymorphism as a Determinant of Erythromycin Disposition ⬇️

scientific article published on September 19, 2012

Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel

scientific article published on 29 December 2015

Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.

scientific article published on 17 October 2007

Pathways Regulating Spheroid Formation of Human Follicular Thyroid Cancer Cells under Simulated Microgravity Conditions: A Genetic Approach

scientific article published on 8 April 2016

Preparation of A Spaceflight: Apoptosis Search in Sutured Wound Healing Models

scientific article published on 3 December 2017

Protein misfolding and degradation in genetic diseases.

scientific article

Quantitative proteomics reveals cellular targets of celastrol

scientific article

Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition

scientific article published on 6 December 2011

Real Microgravity Influences the Cytoskeleton and Focal Adhesions in Human Breast Cancer Cells

scientific article published on 28 June 2019

Reduced Expression of Cytoskeletal and Extracellular Matrix Genes in Human Adult Retinal Pigment Epithelium Cells Exposed to Simulated Microgravity.

scientific article published on 14 November 2016

Reduction of choroidal neovascularization in mice by adeno-associated virus-delivered anti-vascular endothelial growth factor short hairpin RNA.

scientific article

Retinal gene therapy: an eye-opener of the 21st century

scientific article published on 19 June 2020

Robust Lentiviral Gene Delivery But Limited Transduction Capacity of Commonly Used Adeno-Associated Viral Serotypes in Xenotransplanted Human Skin.

scientific article

SNAP-25-associated Hrs-2 protein colocalizes with AQP2 in rat kidney collecting duct principal cells.

scientific article

Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206.

scientific article published on 11 July 2016

Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.

scientific article

Short-Term Microgravity Influences Cell Adhesion in Human Breast Cancer Cells

scientific article published on 15 November 2019

Simulated Microgravity Influences VEGF, MAPK, and PAM Signaling in Prostate Cancer Cells

scientific article published on 13 February 2020

Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.

scientific article published on 12 May 2010

Spatial Distribution of Transgenic Protein After Gene Electrotransfer to Porcine Muscle

article

Subretinal Saline Protects the Neuroretina From Thermic Damage During Laser Induction of Experimental Choroidal Neovascularization in Pigs

scientific article published on 01 June 2021

Suppression of Choroidal Neovascularization by AAV-Based Dual-Acting Antiangiogenic Gene Therapy

article

Suppression of Choroidal Neovascularization in Mice by Subretinal Delivery of Multigenic Lentiviral Vectors Encoding Anti-Angiogenic MicroRNAs

scientific article

The 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 level

scientific article

The CellBox-2 Mission to the International Space Station: Thyroid Cancer Cells in Space

scientific article published in 2021

The Hsp60 folding machinery is crucial for manganese superoxide dismutase folding and function.

scientific article published on 11 November 2013

The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.

scientific article

The Importance of Caveolin-1 as Key-Regulator of Three-Dimensional Growth in Thyroid Cancer Cells Cultured under Real and Simulated Microgravity Conditions

scientific article

The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants

scientific article published on 12 May 2017

The impact of microgravity on bone in humans.

scientific article published on 23 March 2016

The role of NFκB in spheroid formation of human breast cancer cells cultured on the Random Positioning Machine.

scientific article published on 17 January 2018

Three-dimensional growth of human endothelial cells in an automated cell culture experiment container during the SpaceX CRS-8 ISS space mission - The SPHEROIDS project

scientific article published on 7 February 2017

Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase

scientific article published on 18 December 2010

Update on the keratoconus genetics.

scientific article published on 04 April 2012

List of works by Thomas Juhl Corydon

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing

A cell model to study different degrees of Hsp60 deficiency in HEK293 cells.

A human homologue of Escherichia coli ClpP caseinolytic protease: recombinant expression, intracellular processing and subcellular localization ⬇️

A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus

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.

Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation

Adeno-associated virus-delivered polycistronic microRNA-clusters for knockdown of vascular endothelial growth factor in vivo.

Alterations of the cytoskeleton in human cells in space proved by life-cell imaging

An eEF1A1 truncation encoded by PTI-1 exerts its oncogenic effect inside the nucleus.

An inventory of interactors of the human HSP60/HSP10 chaperonin in the mitochondrial matrix space

Antiangiogenic Eye Gene Therapy

Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders

Associations between the Complement System and Choroidal Neovascularization in Wet Age-Related Macular Degeneration

Augmenting cancer cell proteomics with cellular images - A semantic approach to understand focal adhesion

Brain volumetric alterations accompanied with loss of striatal medium-sized spiny neurons and cortical parvalbumin expressing interneurons in Brd1 mice

CRISPR Gene Therapy of the Eye: Targeted Knockout of Vegfa in Mouse Retina by Lentiviral Delivery

Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts

Changes in Human Foetal Osteoblasts Exposed to the Random Positioning Machine and Bone Construct Tissue Engineering ⬇️

Characteristics of human infant primary fibroblast cultures from Achilles tendons removed post-mortem

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

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

Common Effects on Cancer Cells Exerted by a Random Positioning Machine and a 2D Clinostat.

Current knowledge about the impact of microgravity on the proteome

DNA transposition by protein transduction of the piggyBac transposase from lentiviral Gag precursors

Decreased E-Cadherin in MCF7 Human Breast Cancer Cells Forming Multicellular Spheroids Exposed to Simulated Microgravity.

Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).

Development of Multigenic Lentiviral Vectors for Cell-Specific Expression of Antiangiogenic miRNAs and Protein Factors

Dexamethasone Inhibits Spheroid Formation of Thyroid Cancer Cells Exposed to Simulated Microgravity

Differential gene expression of human chondrocytes cultured under short-term altered gravity conditions during parabolic flight maneuvers.

Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus

Dominant negative SERPING1 variants cause intracellular retention of C1-inhibitor in hereditary angioedema

Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.

Efficient Knockdown and Lack of Passenger Strand Activity by Dicer-Independent shRNAs Expressed from Pol II-Driven MicroRNA Scaffolds

Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer

Expression of the RAI gene is conducive to apoptosis: studies of induction and interference

Further immunohistochemical characterization of BRD1 a new susceptibility gene for schizophrenia and bipolar affective disorder.

Growing blood vessels in space: Preparation studies of the SPHEROIDS project using related ground-based studies

Growth of Endothelial Cells in Space and in Simulated Microgravity - a Comparison on the Secretory Level

Grp78 Is Involved in Retention of Mutant Low Density Lipoprotein Receptor Protein in the Endoplasmic Reticulum

Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice

Heat stress and sudden infant death syndrome--stress gene expression after exposure to moderate heat stress.

Identification of proteins involved in inhibition of spheroid formation under microgravity

Identification of the BRD1 interaction network and its impact on mental disorder risk

Identifications of novel mechanisms in breast cancer cells involving duct-like multicellular spheroid formation after exposure to the Random Positioning Machine

Improved Lentiviral Gene Delivery to Mouse Liver by Hydrodynamic Vector Injection through Tail Vein

Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?

Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene.

Influence of Microgravity on Apoptosis in Cells, Tissues, and Other Systems In Vivo and In Vitro

In Vivo Knockout of the Vegfa Gene by Lentiviral Delivery of CRISPR/Cas9 in Mouse Retinal Pigment Epithelium Cells.

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 [...]

LDL receptor-GFP fusion proteins: new tools for the characterisation of disease-causing mutations in the LDL receptor gene

Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice

Mechanisms of three-dimensional growth of thyroid cells during long-term simulated microgravity.

Microgravity Affects Thyroid Cancer Cells during the TEXUS-53 Mission Stronger than Hypergravity ⬇️

Mitochondrial fatty acid oxidation defects--remaining challenges.

Moderate alterations of the cytoskeleton in human chondrocytes after short-term microgravity produced by parabolic flight maneuvers could be prevented by up-regulation of BMP-2 and SOX-9.

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

Morphological and Molecular Changes in Juvenile Normal Human Fibroblasts Exposed to Simulated Microgravity

Multigenic lentiviral vectors for combined and tissue-specific expression of miRNA- and protein-based antiangiogenic factors

Mutant epidermal growth factor receptor in benign, borderline, and malignant ovarian tumors

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules ⬇️

OATP1B1 Polymorphism as a Determinant of Erythromycin Disposition ⬇️

Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel

Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.

Pathways Regulating Spheroid Formation of Human Follicular Thyroid Cancer Cells under Simulated Microgravity Conditions: A Genetic Approach

Preparation of A Spaceflight: Apoptosis Search in Sutured Wound Healing Models

Protein misfolding and degradation in genetic diseases.

Quantitative proteomics reveals cellular targets of celastrol

Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition

Real Microgravity Influences the Cytoskeleton and Focal Adhesions in Human Breast Cancer Cells

Reduced Expression of Cytoskeletal and Extracellular Matrix Genes in Human Adult Retinal Pigment Epithelium Cells Exposed to Simulated Microgravity.

Reduction of choroidal neovascularization in mice by adeno-associated virus-delivered anti-vascular endothelial growth factor short hairpin RNA.

Retinal gene therapy: an eye-opener of the 21st century

Robust Lentiviral Gene Delivery But Limited Transduction Capacity of Commonly Used Adeno-Associated Viral Serotypes in Xenotransplanted Human Skin.

SNAP-25-associated Hrs-2 protein colocalizes with AQP2 in rat kidney collecting duct principal cells.

Schizophrenia risk variants affecting microRNA function and site-specific regulation of NT5C2 by miR-206.

Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.