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1دورية أكاديمية
المؤلفون: Wendy L van der Woerd, Désirée Y van Haaften-Visser, Stan F J van de Graaf, Claude Férec, Emmanuelle Masson, Janneke M Stapelbroek, Peter Bugert, Heiko Witt, Roderick H J Houwen
المصدر: PLoS ONE, Vol 8, Iss 11, p e80553 (2013)
وصف الملف: electronic resource
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المؤلفون: Emily M.M. Triffaux, Karoline Fiedler, Abdul Elkadri, Ester Rieter, Wigard P. Kloosterman, Paul J. Coffer, Magdalena Harakalova, Mieke M. van Haelst, Joris M. van Montfrans, Aleixo M. Muise, Edward E. S. Nieuwenhuis, Désirée Y. van Haaften-Visser, Peter M. van Hasselt, Roderick H. J. Houwen, Isaac J. Nijman, Enric Mocholi, Edwin Cuppen
المساهمون: Amsterdam Reproduction & Development (AR&D), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics
المصدر: Journal of Biological Chemistry, 292(19), 7904-7920. American Society for Biochemistry and Molecular Biology Inc.
Van Haaften-Visser, D Y, Harakalova, M, Mocholi, E, Van Montfrans, J M, Elkadri, A, Rieter, E, Fiedler, K, Van Hasselt, P M, Triffaux, E M M, Van Haelst, M M, Nijman, I J, Kloosterman, W P, Nieuwenhuis, E E S, Muise, A M, Cuppen, E, Houwen, R H J & Coffer, P J 2017, ' Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease ', Journal of Biological Chemistry, vol. 292, no. 19, pp. 7904-7920 . https://doi.org/10.1074/jbc.M116.772038
Journal of Biological Chemistry, 292(19), 7904. American Society for Biochemistry and Molecular Biology Inc.مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Carrier Proteins/genetics, Apoptosis, Mitochondrion, Compound heterozygosity, medicine.disease_cause, RNA, Small Interfering/metabolism, Biochemistry, Exome, Lymphocytes, RNA, Small Interfering, Age of Onset, Child, Non-U.S. Gov't, Exome sequencing, Genetics, Fibroblasts/metabolism, Inflammatory Bowel Diseases/genetics, Mutation, Tumor, Genome, Research Support, Non-U.S. Gov't, Homozygote, Ankyrin Repeat/genetics, Zinc Fingers, Disease gene identification, Lymphocytes/cytology, Ankyrin Repeat, Mitochondria, Zinc, Phenotype, Child, Preschool, Female, Sequence Analysis, Human, Small Interfering/metabolism, Biology, Research Support, Cell Line, 03 medical and health sciences, Cell Line, Tumor, Mitochondria/metabolism, medicine, Journal Article, Humans, Allele, Preschool, Molecular Biology, Alleles, Inflammation, Genome, Human, Infant, DNA, Sequence Analysis, DNA, Cell Biology, Fibroblasts, Inflammatory Bowel Diseases, Molecular biology, Zinc/chemistry, 030104 developmental biology, HEK293 Cells, RNA, Ankyrin repeat, Carrier Proteins
وصف الملف: image/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b54fa32bce3d49b8dcbea43d871ab81e
https://dspace.library.uu.nl/handle/1874/350453 -
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المؤلفون: Désirée Y. van Haaften–Visser, Peter M. van Hasselt, Marloes M. Ijland, Tom J. de Koning, Nicolaas J. G. Jansen
المصدر: Intensive Care Medicine
Intensive Care Medicine, 37, 6, pp. 1014-20
Intensive Care Medicine, 37, 1014-20
Intensive Care Medicine, 37(6), 1014-1020. SPRINGERمصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Intensive Care Units, Pediatric, Critical Care and Intensive Care Medicine, General surveillance, Cohort Studies, Anesthesiology, Intensive care, Vitamin K deficiency, Journal Article, medicine, Humans, Registries, Netherlands, Pediatric, Pediatric intensive care unit, Intracranial bleeding, Prophylaxis, business.industry, Incidence (epidemiology), Infant, Newborn, Infant, Vitamin K Deficiency Bleeding, Newborn, medicine.disease, Confidence interval, Pathogenesis and modulation of inflammation [N4i 1], Intensive Care Units, Pediatric Intensive Care Evaluation registry, El Niño, Population Surveillance, Pediatric Original, Female, business, Intracranial Hemorrhages, Cohort study
وصف الملف: application/pdf
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المؤلفون: Rico Chandra Ardy, Paul J. Coffer, Klaske D. Lichtenbelt, Henkjan J. Verkade, Edward E. S. Nieuwenhuis, Thomas Müller, Jorik M. van Rijn, Zeren Baris, Edwin C. A. Stigter, Rene Scheenstra, Zarife Kuloğlu, Marini Thian, Hubert P. J. van der Doef, Bettina Härter, Marliek van Hoesel, Dorien Lugtenberg, Figen Özçay, Sabine Middendorp, Aysel Ünlüsoy Aksu, Henricus G.F. Brouwer, Buket Dalgic, Gijs van Haaften, Roderick H. J. Houwen, Peter G. J. Nikkels, Meryem Keçeli Başaran, Andreas R. Janecke, Joke B. G. M. Verheij, Anke H.M. van Vugt, Kaan Boztug, Freddy T. M. Kokke, Aydan Kansu, Maarten P.G. Massink, Renate Kain, Bart Spee, Karen Duran, Neslihan Gurcan Kaya, Désirée Y. van Haaften-Visser, Ana Krolo
المساهمون: Onderzoek, dCSCA RMSC-1, Sub Biomolecular analysis, Center for Liver, Digestive and Metabolic Diseases (CLDM), Lifestyle Medicine (LM)
المصدر: Gastroenterology, 155(1), 130. W.B. Saunders Ltd
Gastroenterology, 155, 130-143.e15
Gastroenterology, 155, 1, pp. 130-143.e15
Gastroenterology
Gastroenterology, 155(1), 130-143. W B SAUNDERS CO-ELSEVIER INCمصطلحات موضوعية: Male, 0301 basic medicine, OBESITY RESISTANCE, DISORDER, 3-D Culture Model, Lipid Metabolism Disorder, Malabsorption, Turkey, PROTEIN-LOSING ENTEROPATHY, Lipid Metabolism Disorders, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], DISEASE, Consanguinity, 0302 clinical medicine, Lipid droplet, DG, diacylglycerol, ABSORPTION, B-LCL, B lymphoblastoid cell line, Child, MUTATION, Netherlands, Caspase 7, Caspase 3, Gastroenterology, High-Throughput Nucleotide Sequencing, HUMANS, Dermis, GI, gastrointestinal, Intestinal epithelium, TG, triacylglycerol, 3. Good health, FAMILY, Organoids, Lipotoxicity, hSI-EM, human small intestine expansion medium, Child, Preschool, Female, 030211 gastroenterology & hepatology, COA-DIACYLGLYCEROL ACYLTRANSFERASE-1, medicine.medical_specialty, Duodenum, DGAT1, diacylglycerol-acyltransferase 1, PLE, Protein-Losing Enteropathies, sgRNA, single-guide RNA, PBS, phosphate-buffered saline, Real-Time Polymerase Chain Reaction, Article, cDNA, complementary DNA, 03 medical and health sciences, PLE, protein-losing enteropathy, All institutes and research themes of the Radboud University Medical Center, Internal medicine, FFA, free fatty acid, medicine, Organoid, Diacylglycerol O-Acyltransferase, CDD, congenital diarrheal disorder, Hepatology, business.industry, OA, oleic acid, Lipid metabolism, Sequence Analysis, DNA, Fibroblasts, medicine.disease, COMBINED IMMUNODEFICIENCY, Phorbols, WT, wild-type, 030104 developmental biology, Endocrinology, SSC, Side Scatter, Case-Control Studies, PB, PiggyBac transposon, Genomic, BSA, bovine serum albumin, Caco-2 Cells, Intestinal Disorder, business, Hypoalbuminemia, CDD
وصف الملف: image/pdf; application/pdf
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المؤلفون: Edward E. S. Nieuwenhuis, Johanna C. Escher, Glen R. Monroe, Lukas A. Huber, Hans Clevers, Peter M. van Hasselt, Isaac J. Nijman, Ernest Cutz, Janneke M. Stapelbroek, Michael W. Hess, Alexander J. Jordan, Caroline L. Wiegerinck, Cornelia E. Thöni, Kristian Pfaller, Rüdiger Adam, Andreas R. Janecke, Georg F. Vogel, Thomas Müller, Cleo Aron Weis, Sabine Middendorp, Gijs van Haaften, Roderick H. J. Houwen, Judith Klumperman, Désirée Y. van Haaften–Visser, Kerstin Schneeberger
المساهمون: Pediatrics, Internal Medicine, Hubrecht Institute for Developmental Biology and Stem Cell Research
المصدر: Gastroenterology, 147(1), 65-U142. W.B. Saunders
Gastroenterology, 147(1), 65-68.e10. W.B. Saunders Ltdمصطلحات موضوعية: Male, Duodenum, Biopsy, Biology, Organ Culture Techniques, Malabsorption Syndromes, Mucolipidoses, Myosin, medicine, Organoid, Humans, Intestinal Mucosa, Epithelial polarity, Hepatology, Microvilli, Qa-SNARE Proteins, Vesicle, Gastroenterology, Lipid bilayer fusion, Infant, Microvillus, Molecular biology, Syntaxin 3, medicine.anatomical_structure, Biochemistry, Caco-2, Mutation, Female, Caco-2 Cells
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المؤلفون: Janneke M. Stapelbroek, Wendy L. van der Woerd, Stan F.J. van de Graaf, Désirée Y. van Haaften-Visser, Heiko Witt, Emmanuelle Masson, Peter Bugert, Roderick H. J. Houwen, Claude Férec
المساهمون: Other departments, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Gastroenterology and Hepatology
المصدر: PLoS ONE
PLoS ONE, Vol 8, Iss 11, p e80553 (2013)
PLoS ONE, 8(11). Public Library of Scienceمصطلحات موضوعية: Genotype, Trypsinogen, Science, Biology, medicine.disease_cause, Bioinformatics, chemistry.chemical_compound, Pancreatitis, Chronic, medicine, Humans, Pancreatitis, chronic, Allele, Allele frequency, Alleles, Adenosine Triphosphatases, Mutation, Multidisciplinary, Case-control study, Exons, medicine.disease, Introns, chemistry, Case-Control Studies, Immunology, Medicine, Pancreatitis, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f1d1cab50dd11fd73382ab7d91283d
https://doi.org/10.1371/journal.pone.0080553
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