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المؤلفون: van Vugt AHM; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht (UMCU), Utrecht University (UU), Utrecht, the Netherlands.; Regenerative Medicine Center, UMCU, UU, Utrecht, the Netherlands., Bijvelds MJC; Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., de Jonge HR; Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Meijsen KF; Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Restin T; Newborn Research Zürich, Department of Neonatology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.; Institute of Physiology, University of Zurich, Zurich, Switzerland., Bryant MB; Newborn Research Zürich, Department of Neonatology, University Hospital Zurich and University of Zurich, Zurich, Switzerland., Ballauff A; Kinder- und Jugendmedizin, Helios Klinikum, Krefeld, Germany., Koot B; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Pediatric Gastroenterology, Amsterdam, the Netherlands., Müller T; Department of Pediatrics I, Medical University Innsbruck, Innsbruck, Austria., Houwen RHJ; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht (UMCU), Utrecht University (UU), Utrecht, the Netherlands., Janecke AR; Department of Pediatrics I, Medical University Innsbruck, Innsbruck, Austria.; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Middendorp S; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht (UMCU), Utrecht University (UU), Utrecht, the Netherlands.; Regenerative Medicine Center, UMCU, UU, Utrecht, the Netherlands.; Current affiliation: Gadeta BV, Utrecht, the Netherlands.

المصدر: Clinical and translational gastroenterology [Clin Transl Gastroenterol] 2021 Nov 18; Vol. 12 (11), pp. e00427. Date of Electronic Publication: 2021 Nov 18.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 101532142 Publication Model: Electronic Cited Medium: Internet ISSN: 2155-384X (Electronic) Linking ISSN: 2155384X NLM ISO Abbreviation: Clin Transl Gastroenterol Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*drug therapy , Abnormalities, Multiple/*genetics , Diarrhea/*congenital , Metabolism, Inborn Errors/*drug therapy , Metabolism, Inborn Errors/*genetics , Receptors, Enterotoxin/*antagonists & inhibitors, Abnormalities, Multiple/metabolism ; Cyclic GMP/metabolism ; Diarrhea/drug therapy ; Diarrhea/genetics ; Diarrhea/metabolism ; Gain of Function Mutation ; Heterocyclic Compounds, 4 or More Rings/therapeutic use ; Humans ; Metabolism, Inborn Errors/metabolism ; Receptors, Enterotoxin/genetics

SCR Disease Name: Diarrhea 3, Secretory Sodium, Congenital

المؤلفون: van Rijn JM, van Hoesel M, de Heus C, van Vugt AHM, Klumperman J, Nieuwenhuis EES, Houwen RHJ, Middendorp S

المصدر: Journal of lipid research [J Lipid Res] 2021; Vol. 62, pp. 100126. Date of Electronic Publication: 2021 Oct 06.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0376606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-7262 (Electronic) Linking ISSN: 00222275 NLM ISO Abbreviation: J Lipid Res Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Schene IF; Division of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584, EA, Utrecht, the Netherlands.; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584, EA, Utrecht, the Netherlands.; Regenerative Medicine Center Utrecht, Uppsalalaan 8, 3584, CT, Utrecht, the Netherlands., Joore IP; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584, EA, Utrecht, the Netherlands.; Regenerative Medicine Center Utrecht, Uppsalalaan 8, 3584, CT, Utrecht, the Netherlands., Oka R; Princess Maxima Center, 3584, CS, Utrecht, the Netherlands.; Oncode Institute, Princess Maxima Center, 3584, CS, Utrecht, the Netherlands., Mokry M; Division of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584, EA, Utrecht, the Netherlands., van Vugt AHM; Division of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584, EA, Utrecht, the Netherlands.; Regenerative Medicine Center Utrecht, Uppsalalaan 8, 3584, CT, Utrecht, the Netherlands., van Boxtel R; Princess Maxima Center, 3584, CS, Utrecht, the Netherlands.; Oncode Institute, Princess Maxima Center, 3584, CS, Utrecht, the Netherlands., van der Doef HPJ; Department of Pediatric Gastroenterology, University Medical Center Groningen, Hanzeplein 1, 9713, GZ, Groningen, the Netherlands., van der Laan LJW; Department of Surgery, Erasmus MC-University Medical Center Rotterdam, Doctor Molewaterplein 40, 3015, GD, Rotterdam, the Netherlands., Verstegen MMA; Department of Surgery, Erasmus MC-University Medical Center Rotterdam, Doctor Molewaterplein 40, 3015, GD, Rotterdam, the Netherlands., van Hasselt PM; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584, EA, Utrecht, the Netherlands., Nieuwenhuis EES; Division of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584, EA, Utrecht, the Netherlands.; Department of Sciences, University College Roosevelt, Lange Noordstraat 1, 4331, CB, Middelburg, the Netherlands., Fuchs SA; Division of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584, EA, Utrecht, the Netherlands. s.fuchs@umcutrecht.nl.; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584, EA, Utrecht, the Netherlands. s.fuchs@umcutrecht.nl.; Regenerative Medicine Center Utrecht, Uppsalalaan 8, 3584, CT, Utrecht, the Netherlands. s.fuchs@umcutrecht.nl.

المصدر: Nature communications [Nat Commun] 2020 Oct 23; Vol. 11 (1), pp. 5352. Date of Electronic Publication: 2020 Oct 23.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Gene Editing/*methods , Organoids/*metabolism , beta Catenin/*genetics, CRISPR-Cas Systems ; Cell Line ; Cell Proliferation ; Copper-Transporting ATPases/genetics ; Deoxyribonuclease I/metabolism ; Diacylglycerol O-Acyltransferase/genetics ; HEK293 Cells ; Hepatolenticular Degeneration/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Recombinational DNA Repair ; Stem Cells ; Targeted Gene Repair/methods

المؤلفون: van Rijn JM; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Hoesel M; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., de Heus C; Department of Cell Biology, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Vugt AHM; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Regenerative Medicine Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Klumperman J; Department of Cell Biology, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Nieuwenhuis EES; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Houwen RHJ; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Middendorp S; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands s.middendorp@umcutrecht.nl.; Regenerative Medicine Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

المصدر: Journal of lipid research [J Lipid Res] 2019 Oct; Vol. 60 (10), pp. 1787-1800. Date of Electronic Publication: 2019 Jul 17.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0376606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-7262 (Electronic) Linking ISSN: 00222275 NLM ISO Abbreviation: J Lipid Res Subsets: MEDLINE

مواضيع طبية MeSH: Diacylglycerol O-Acyltransferase/*deficiency , Diacylglycerol O-Acyltransferase/*metabolism , Endoplasmic Reticulum Stress/*drug effects , Intestines/*cytology , Lipids/*adverse effects , Stem Cells/*drug effects , Stem Cells/*metabolism, Child, Preschool ; Female ; Humans ; Lipid Droplets/drug effects ; Lipid Droplets/metabolism ; Male