المؤلفون: Nielsen, Simone S E, Holst, Mikkel R, Langthaler, Kristine, Christensen, Sarah Christine, Bruun, Elisabeth Helena, Brodin, Birger, Nielsen, Morten S

المصدر: Nielsen, S S E, Holst, M R, Langthaler, K, Bruun, E H, Brodin, B & Nielsen, M S 2023, ' Apicobasal transferrin receptor localization and trafficking in brain capillary endothelial cells ', Fluids and Barriers of the CNS, vol. 20, no. 1, 2 . https://doi.org/10.1186/s12987-022-00404-1
Nielsen, S S E, Holst, M R, Langthaler, K, Christensen, S C, Bruun, E H, Brodin, B & Nielsen, M S 2023, ' Apicobasal transferrin receptor localization and trafficking in brain capillary endothelial cells ', Fluids and Barriers of the CNS, vol. 20, no. 1, 2 . https://doi.org/10.1186/s12987-022-00404-1

مصطلحات موضوعية: Apicobasal polarity, General Medicine, Endothelial Cells/metabolism, Receptors, Transferrin/metabolism, Blood–brain barrier, Cellular and Molecular Neuroscience, Developmental Neuroscience, Neurology, Brain drug delivery, Expansion microscopy, Transferrin receptor (TfR), Brain/metabolism, Brain endothelial cells, Blood-Brain Barrier/metabolism, Iron/metabolism, Intracellular trafficking

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a20208770ed7e5039e7928a39b8cc0b
https://curis.ku.dk/ws/files/332687129/Fulltext.pdf

المؤلفون: Christian Erikstrup, Jon K. Sigurdsson, Dragana Vuckovic, Isleifur Olafsson, Daniel F. Gudbjartsson, Vinicius Tragante, Steven Bell, Stephen Kaptoge, Andreas S. Rigas, Snaedis Kristmundsdottir, Khoa Manh Dinh, Hreinn Stefansson, Helene M. Paarup, Anna Ramond, Kristinn Juliusson, Hannes P. Eggertsson, Pall T. Onundarson, Erik Sørensen, Gudmundur Runarsson, Parsa Akbari, Tao Jiang, Søren Brunak, David J. Roberts, Willem H. Ouwehand, Asmundur Oddsson, Gisli H. Halldorsson, Adam S. Butterworth, James E Peters, Brynjar Vidarsson, Hilma Holm, Magnus I Magnusson, Kari Stefansson, Joanna M. M. Howson, Lise Wegner Thørner, Angela M. Wood, Karina Banasik, Sigrun H. Lund, Henrik Hjalgrim, Olof Sigurdardottir, David Westergaard, Emanuele Di Angelantonio, Unnur Thorsteinsdottir, Henrik Ullum, John Danesh, Gudmar Thorleifsson, Egil Ferkingstad, Michael L. Frigge, Patrick Sulem, Ingileif Jonsdottir, Thomas Hansen, Ole Birger Pedersen, Magnus K. Magnusson, David B. Rye, Dirk S. Paul, Gyda Bjornsdottir, Praveen Surendran, Elias Allara, William J. Astle, Kaspar René Nielsen, Nicole Soranzo, Kristoffer Sølvsten Burgdorf

المساهمون: United Kingdom Research and Innovation

المصدر: Bell, S, Rigas, A S, Magnusson, M K, Ferkingstad, E, Allara, E, Bjornsdottir, G, Ramond, A, Sørensen, E, Halldorsson, G H, Paul, D S, Burgdorf, K S, Eggertsson, H P, Howson, J M M, Thørner, L W, Kristmundsdottir, S, Astle, W J, Erikstrup, C, Sigurdsson, J K, Vuckovic, D, Dinh, K M, Tragante, V, Surendran, P, Pedersen, O B, Vidarsson, B, Jiang, T, Paarup, H M, Onundarson, P T, Akbari, P, Nielsen, K R, Lund, S H, Juliusson, K, Magnusson, M I, Frigge, M L, Oddsson, A, Olafsson, I, Kaptoge, S, Hjalgrim, H, Runarsson, G, Wood, A M, Jonsdottir, I, Hansen, T F, Sigurdardottir, O, Stefansson, H & DBDS Genomic Consortium 2021, ' A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis ', Communications Biology, vol. 4, no. 1, 156 . https://doi.org/10.1038/s42003-020-01575-z
Communications Biology
Bell, S, Rigas, A S, Magnusson, M K, Ferkingstad, E, Allara, E, Bjornsdottir, G, Ramond, A, Sørensen, E, Halldorsson, G H, Paul, D S, Burgdorf, K S, Eggertsson, H P, Howson, J M M, Thørner, L W, Kristmundsdottir, S, Astle, W J, Erikstrup, C, Sigurdsson, J K, Vuckovic, D, Dinh, K M, Tragante, V, Surendran, P, Pedersen, O B, Vidarsson, B, Jiang, T, Paarup, H M, Onundarson, P T, Akbari, P, Nielsen, K R, Lund, S H, Juliusson, K, Magnusson, M I, Frigge, M L, Oddsson, A, Olafsson, I, Kaptoge, S, Hjalgrim, H, Runarsson, G, Wood, A M, Hansen, T F, Burgdorf, K S, Jemec, G, Jennum, P, Nielsen, K R, Petersen, M, Werge, T, Westergaard, D, Banasik, K, Brunak, S, Ullum, H & DBDS Genomic Consortium 2021, ' A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis ', Communications Biology, vol. 4, no. 1, 156 . https://doi.org/10.1038/s42003-020-01575-z
DBDS Genomic Consortium, Westergaard, D, Banasik, K, Brunak, S & Ullum, H 2021, ' A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis ', Communications Biology, vol. 4, no. 1, 156, pp. 156 . https://doi.org/10.1038/s42003-020-01575-z
Bell, S, Rigas, A S, Magnusson, M K, Ferkingstad, E, Allara, E, Bjornsdottir, G, Ramond, A, Sørensen, E, Halldorsson, G H, Paul, D S, Burgdorf, K S, Eggertsson, H P, Howson, J M M, Thørner, L W, Kristmundsdottir, S, Astle, W J, Erikstrup, C, Sigurdsson, J K, Vuckovic, D, Dinh, K M, Tragante, V, Surendran, P, Pedersen, O B, Vidarsson, B, Jiang, T, Paarup, H M, Onundarson, P T, Akbari, P, Nielsen, K R, Lund, S H, Juliusson, K, Magnusson, M I, Frigge, M L, Oddsson, A, Olafsson, I, Kaptoge, S, Hjalgrim, H, Runarsson, G, Wood, A M, Jonsdottir, I, Hansen, T F, Sigurdardottir, O, Stefansson, H, Rye, D, DBDS Genomic Consortium, Peters, J E, Westergaard, D, Holm, H, Soranzo, N, Banasik, K, Thorleifsson, G, Ouwehand, W H, Thorsteinsdottir, U, Roberts, D J, Sulem, P, Butterworth, A S, Gudbjartsson, D F, Danesh, J, Brunak, S, Di Angelantonio, E, Ullum, H, Stefansson, K & Nyegaard, M 2021, ' A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis ', Communications Biology, vol. 4, no. 1, 156 . https://doi.org/10.1038/s42003-020-01575-z
Communications Biology, Vol 4, Iss 1, Pp 1-14 (2021)
communications biology

مصطلحات موضوعية: Life Sciences & Biomedicine - Other Topics, 0301 basic medicine, Denmark, Iceland, Medicine (miscellaneous), Transferrin/metabolism, Genome-wide association study, Anemia, Iron-Deficiency/blood, 0302 clinical medicine, Total iron-binding capacity, Risk Factors, Genetics research, Homeostasis, Biology (General), Genetics, education.field_of_study, medicine.diagnostic_test, biology, Anemia, Iron-Deficiency, Transferrin, Iron deficiency, Multidisciplinary Sciences, Phenotype, 030220 oncology & carcinogenesis, Science & Technology - Other Topics, General Agricultural and Biological Sciences, Life Sciences & Biomedicine, TMPRSS6, Iron Overload, Genotype, QH301-705.5, Iron, Population, Risk Assessment, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, medicine, Humans, education, Iron/blood, Biology, Science & Technology, Transferrin saturation, Ferritins/blood, DBDS Genomic Consortium, Genetic Variation, medicine.disease, United Kingdom, Ferritin, Iron Overload/blood, 030104 developmental biology, Iron-deficiency anemia, Genetic Loci, Ferritins, biology.protein, Biomarkers/blood, Biomarkers, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48454db0daf08828ff58ba5c38fa6a78
https://pure.au.dk/portal/da/publications/a-genomewide-metaanalysis-yields-46-new-loci-associating-with-biomarkers-of-iron-homeostasis(f74a643b-7d4c-4ddc-af3c-42fcad09ef09).html

المؤلفون: Thorsten Marquardt, Monique van Scherpenzeel, John Vissing, Mirian C. H. Janssen, Dirk Lefeber, Francis Bowling, Nurulamin Abu Bakar, Jolanta Sykut-Cegielska, Ellen Crushell, Christian Thiel, Eva Morava, Hana Hansikova, Lars Mørkrid, Nicol C. Voermans

المصدر: Abu Bakar, N, Voermans, N C, Marquardt, T, Thiel, C, Janssen, M C H, Hansikova, H, Crushell, E, Sykut-Cegielska, J, Bowling, F, MØrkrid, L, Vissing, J, Morava, E, van Scherpenzeel, M & Lefeber, D J 2018, ' Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency ', Translational Research, vol. 199, pp. 62-76 . https://doi.org/10.1016/j.trsl.2018.04.008
Translational Research, 199, 62-76
Translational Research, 199, pp. 62-76

مصطلحات موضوعية: 0301 basic medicine, Male, Glycosylation, Transferrin/metabolism, Gastroenterology, Mass Spectrometry, Galactose/therapeutic use, chemistry.chemical_compound, 0302 clinical medicine, Child, Fucosylation, Chromatography, High Pressure Liquid, chemistry.chemical_classification, biology, Transferrin, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Middle Aged, Glycogen Storage Disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Child, Preschool, Female, Adult, medicine.medical_specialty, Glycan, Adolescent, Sensitivity and Specificity, Article, Glycomics, Abnormal glycosylation, 03 medical and health sciences, Young Adult, Physiology (medical), Internal medicine, PGM1, medicine, Humans, Glycogen Storage Disease/blood, Monitoring, Physiologic, business.industry, Biochemistry (medical), Public Health, Environmental and Occupational Health, Galactose, Infant, medicine.disease, carbohydrates (lipids), 030104 developmental biology, Early Diagnosis, chemistry, biology.protein, business, Congenital disorder of glycosylation, Biomarkers, 030217 neurology & neurosurgery, Biomarkers/blood

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cdf2e5692ce72eb7544c8b482b0ed91
https://hdl.handle.net/2066/196117

المؤلفون: Lecat, Sandra, Ouedraogo, Moussa, Cherrier, Thomas, Noulet, Fanny, Ronde, Philippe, Glasser, Nicole, Galzi, Jean-Luc, Mely, Yves, Takeda, Kenneth, Bucher, Bernard

المصدر: Cellular Signalling, 23 (1), 228-38 (2011)

مصطلحات موضوعية: Amino Acid Motifs, Amino Acid Sequence, Amino Acid Substitution, Clathrin/chemistry/metabolism, HEK293 Cells, Humans, Kinetics, Molecular Sequence Data, Mutagenesis, Site-Directed, Neuropeptide Y/pharmacology, RNA Interference, RNA, Small Interfering/metabolism, Receptors, Neuropeptide Y/agonists/genetics/metabolism, Signal Transduction, Transferrin/metabolism, Tyrosine/metabolism, rab5 GTP-Binding Proteins/genetics/metabolism, Life sciences, Biochemistry, biophysics & molecular biology, Sciences du vivant, Biochimie, biophysique & biologie moléculaire

Relation: urn:issn:0898-6568; urn:issn:1873-3913

URL الوصول: https://orbi.uliege.be/handle/2268/140737

المؤلفون: Hälldin, Jonas

مصطلحات موضوعية: Iron -- metabolism, Neuroblastoma -- metabolism, Scrapie -- metabolism, Anti-Infective Agents -- pharmacology, Down-Regulation, Receptors, Transferrin -- metabolism

URL الوصول: http://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-7037

Degree: Diss. (sammanfattning) Stockholm : Stockholms universitet, 2007

المؤلفون: Vinood B. Patel, Kosha J. Mehta, Sebastien Farnaud

المصدر: Mehta, K J, Farnaud, S & Patel, V B 2017, ' HFE mRNA expression is responsive to intracellular and extracellular iron loading : short communication ', Molecular Biology Reports, vol. 44, no. 5, pp. 399-403 . https://doi.org/10.1007/s11033-017-4123-2
Molecular Biology Reports

مصطلحات موضوعية: 0301 basic medicine, Liver/metabolism, RNA, Messenger/genetics, Hemochromatosis Protein/genetics, Histocompatibility Antigens Class I/genetics, Short Communication, Hepcidin, Antigens, CD/metabolism, Transferrin/metabolism, Real-Time Polymerase Chain Reaction, law.invention, Receptors, Transferrin/metabolism, 03 medical and health sciences, 0302 clinical medicine, Downregulation and upregulation, law, Gene expression, Genetics, Extracellular, Homeostasis, Humans, Holotransferrin, Molecular Biology, Cells, Cultured, Hepcidins/genetics, Messenger RNA, biology, Hepatocytes/metabolism, General Medicine, Hep G2 Cells, Molecular biology, Hemochromatosis/genetics, 030104 developmental biology, Biochemistry, Gene Expression Regulation, Recombinant DNA, biology.protein, 030211 gastroenterology & hepatology, HAMP, HFE, Iron/metabolism, Intracellular, Iron-sensing

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12996534ad0041d8187c8002152d1c9b
https://kclpure.kcl.ac.uk/en/publications/50ba6c24-7736-40be-a5c6-27948da77d88

المؤلفون: Christine M. Eng, Reza Maroofian, Anna Rajab, GholamReza Karami Madani, Abolfazl Rad, Magdalena Walkiewicz, Fan Xia, Fatma Al-Jasmi, Stylianos E. Antonarakis, Martin Helmstädter, Marios Kambouris, Sebastian J. Arnold, Zornitza Stark, Miriam Schmidts, Sebastian Lunke, Atteeq U. Rehman, Francesco Vetrini, Maryam Najafi, Federico Santoni, Ehsan Ghayoor Karimiani, Lihadh Al-Gazali, Mari Tokita, Jozef Hertecant, Hanan Hamamy, Weimin He, Pengfei Liu, Periklis Makrythanasis, Hatem El-Shanti, Zeineb Bakey, Jill V. Hunter, Yaping Yang, Christopher M. Richmond, Kaman Wu, Andrea K. Petersen

المصدر: Human Mutation, 40, 3, pp. 267-280
Human Mutation
Human mutation, vol. 40, no. 3, pp. 267-280
Human Mutation, 40, 267-280

مصطلحات موضوعية: early endosome, Adult, Male, 0301 basic medicine, Endosome, Endosomes, storage disease, Biology, Joubert syndrome, Alleles, Child, Child, Preschool, Endocytosis, Endosomes/metabolism, Endosomes/ultrastructure, Female, Fibroblasts/metabolism, Fibroblasts/ultrastructure, Homozygote, Humans, Infant, Infant, Newborn, Loss of Function Mutation/genetics, Myelin Sheath/metabolism, Myelin Sheath/ultrastructure, Neurodevelopmental Disorders/genetics, Neurodevelopmental Disorders/pathology, Pedigree, Phosphoprotein Phosphatases/chemistry, Phosphoprotein Phosphatases/genetics, Syndrome, Transferrin/metabolism, PPP1R21, endo-lysosome, neurodevelopmental syndrome, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Loss of Function Mutation, Phosphoprotein Phosphatases, Genetics, medicine, Allele, Exome, Myelin Sheath, Genetics (clinical), Loss function, Whole genome sequencing, Transferrin, endo‐lysosome, Fibroblasts, medicine.disease, Phenotype, Hypotonia, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Rapid Communications, Neurodevelopmental Disorders, medicine.symptom, Rapid Communication

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d49d758337468ef5222cdd86eccb85e
https://hdl.handle.net/2066/201369

المؤلفون: Thielen, Vinciane, Paquot, Nicolas, Scheen, André

المصدر: Revue Médicale de Liège, 59 (1), 29-31 (2004)

مصطلحات موضوعية: Asthenia/etiology, Biopsy, Blood Glucose/analysis, Diabetic Diet, Diagnosis, Differential, Ferritins/blood, Glucose Tolerance Test, Hemochromatosis/diagnosis/genetics/metabolism/therapy, Humans, Hypoglycemic Agents/therapeutic use, Magnetic Resonance Imaging, Mass Screening/methods, Mutation/genetics, Phenotype, Phlebotomy, Time Factors, Transferrin/metabolism, Human health sciences, Endocrinology, metabolism & nutrition, Sciences de la santé humaine, Endocrinologie, métabolisme & nutrition

Relation: http://www.rmlg.ulg.ac.be; urn:issn:0370-629X; urn:issn:2566-1566

URL الوصول: https://orbi.uliege.be/handle/2268/12506

المؤلفون: Natacha Turck, Alejandra Daruich, Francine Behar-Cohen, Aurélien Thomas, Laura Kowalczuk, Laurent Jonet, Alexandre Moulin, Emilie Picard, Marie-Christine Naud, Jeffrey H Boatright, Jean-Antoine C. Pournaras, Quentin Le Rouzic

المساهمون: Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), Hôpital Ophtalmique Jules-Gonin [Lausanne], Université de Lausanne = University of Lausanne (UNIL)-Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Service d'ophtalmologie [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Emory University [Atlanta, GA], Atlanta Veterans Affairs Medical Center [Decatur, GA, États-Unis], Geneva University Hospital (HUG), Université de Lausanne = University of Lausanne (UNIL), Université de Genève = University of Geneva (UNIGE), Picard, Emilie, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP), Université de Lausanne (UNIL)-Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Université de Lausanne (UNIL), Université de Genève (UNIGE)

المصدر: Science Advances
Science Advances, American Association for the Advancement of Science (AAAS), 2019, 5 (1), pp.eaau9940. ⟨10.1126/sciadv.aau9940⟩
Science advances, vol. 5, no. 1, pp. eaau9940

مصطلحات موضوعية: genetic structures, Apoptosis, Retinal Pigment Epithelium, chemistry.chemical_compound, Mice, 0302 clinical medicine, MESH: Animals, chemistry.chemical_classification, MESH: Aged, 0303 health sciences, MESH: Iron, Multidisciplinary, MESH: Middle Aged, MESH: Retina, Subretinal Fluid, Transferrin, Retinal detachment, Eye Diseases, Hereditary, Middle Aged, MESH: Retinal Pigment Epithelium, Neuroprotection, 3. Good health, medicine.anatomical_structure, Aged, Animals, Apoptosis/drug effects, Disease Models, Animal, Eye Diseases, Hereditary/metabolism, Eye Diseases, Hereditary/surgery, Female, Humans, Iron/metabolism, Iron/pharmacology, Iron/toxicity, Mice, Inbred C57BL, Mice, Transgenic, Necrosis, Photoreceptor Cells, Vertebrate/metabolism, Rats, Rats, Long-Evans, Rats, Wistar, Retina/metabolism, Retinal Detachment/metabolism, Retinal Detachment/surgery, Retinal Pigment Epithelium/metabolism, Subretinal Fluid/metabolism, Transferrin/genetics, Transferrin/metabolism, MESH: Retinal Detachment, MESH: Transferrin, Photoreceptor Cells, Vertebrate, Programmed cell death, MESH: Rats, MESH: Mice, Transgenic, Necroptosis, Iron, MESH: Eye Diseases, Hereditary, Retina, 03 medical and health sciences, MESH: Mice, Inbred C57BL, MESH: Rats, Long-Evans, MESH: Subretinal Fluid, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, MESH: Mice, 030304 developmental biology, MESH: Necrosis, MESH: Neuroprotection, Retinal pigment epithelium, MESH: Humans, business.industry, MESH: Apoptosis, Retinal Detachment, Retinal, MESH: Rats, Wistar, medicine.disease, eye diseases, chemistry, Cancer research, MESH: Photoreceptor Cells, Vertebrate, MESH: Disease Models, Animal, business, MESH: Female, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fe9c3ad1e9397bf2e0403e52debf492
https://pubmed.ncbi.nlm.nih.gov/30662950

المؤلفون: Beguin, Yves

المصدر: Clinica Chimica Acta, 329 (1-2), 9-22 (2003)

مصطلحات موضوعية: Animals, Erythropoiesis/physiology, Humans, Iron/blood, Nutritional Status, Receptors, Transferrin/metabolism, Human health sciences, Hematology, Sciences de la santé humaine, Hématologie

Relation: urn:issn:0009-8981; urn:issn:1873-3492

URL الوصول: https://orbi.uliege.be/handle/2268/6596