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Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.
Boel, Annekatrien; Burger, Joyce; Vanhomwegen, Marine; Beyens, Aude; Renard, Marjolijn; Barnhoorn, Sander; Casteleyn, Christophe; Reinhardt, Dieter P; Descamps, Benedicte; Vanhove, Christian; van der Pluijm, Ingrid; Coucke, Paul; Willaert, Andy; Essers, Jeroen; Callewaert, Bert.
Affiliation
  • Boel A; Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.
  • Burger J; Ghent-Fertility and Stem cell Team, Department for Reproductive Medicine, Ghent University Hospital, 9000 Ghent, Belgium.
  • Vanhomwegen M; Department of Molecular Genetics, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands.
  • Beyens A; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands.
  • Renard M; Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.
  • Barnhoorn S; Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.
  • Casteleyn C; Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium.
  • Reinhardt DP; Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.
  • Descamps B; Department of Molecular Genetics, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands.
  • Vanhove C; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands.
  • van der Pluijm I; Department of Morphology, Faculty of Veterinary Medicine, Ghent University, 9820 Merelbeke, Belgium.
  • Coucke P; Department of Anatomy and Cell Biology, Faculty of Medicine, Faculty of Dentistry, McGill University, H3A 0C7 Montreal, Quebec, Canada.
  • Willaert A; Infinity (IBiTech-MEDISIP), Department of Electronics and Information Systems, Ghent University, 9000 Ghent, Belgium.
  • Essers J; Infinity (IBiTech-MEDISIP), Department of Electronics and Information Systems, Ghent University, 9000 Ghent, Belgium.
  • Callewaert B; Department of Molecular Genetics, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands.
Hum Mol Genet ; 29(9): 1476-1488, 2020 06 03.
Article in En | MEDLINE | ID: mdl-32307537
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arteries / Ascorbic Acid Deficiency / Skin Diseases, Genetic / L-Gulonolactone Oxidase / Glucose Transport Proteins, Facilitative / Vascular Malformations / Joint Instability Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arteries / Ascorbic Acid Deficiency / Skin Diseases, Genetic / L-Gulonolactone Oxidase / Glucose Transport Proteins, Facilitative / Vascular Malformations / Joint Instability Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Country of publication: