المؤلفون: Mercader-Barceló, Josep, Martín-Medina, Aina, Truyols-Vives, Joan, Escarrer-Garau, Gabriel, Elowsson, Linda, Montes-Worboys, Ana, Río-Bocos, Carlos, Muncunill-Farreny, Josep, Velasco-Roca, Julio, Cederberg, Anna, Kadefors, Måns, Molina-Molina, Maria, Westergren-Thorsson, Gunilla, Sala-Llinàs, Ernest

المصدر: Cells eSSENCE: The e-Science Collaboration. 12(16):1-18

مصطلحات موضوعية: Humans, Idiopathic Pulmonary Fibrosis/genetics, Autophagy, Mesenchymal Stem Cells, Mitochondria, Lung, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Cell- och molekylärbiologi, Medical and Health Sciences, Basic Medicine, Cell and Molecular Biology

الوصول الحر: https://lup.lub.lu.se/record/88553901-9e48-4ead-a8f2-dfabae31b542Test
http://dx.doi.org/10.3390/cells12162084Test

المؤلفون: Lefferts, Juliet W, Kroes, Suzanne, Smith, Matthew B, Niemöller, Paul J, Nieuwenhuijze, Natascha D A, Sonneveld van Kooten, Heleen N, van der Ent, Cornelis K, Beekman, Jeffrey M, van Beuningen, Sam F B

المساهمون: Longziekten onderzoek 2, Cancer, Regenerative Medicine and Stem Cells, Longziekten patientenzorg, Speerpunt Child Health, Child Health, Infection & Immunity, Onderzoek

مصطلحات موضوعية: Cystic Fibrosis Transmembrane Conductance Regulator/genetics, Cystic Fibrosis/genetics, Deep Learning, Humans, Intestines, Organoids, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/451453Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/451453Test

المساهمون: Anna L Peljto, Rachel Z Blumhagen, Avram D Walts, Jonathan Cardwell, Julia Powers, Tamera J Corte, Joanne L Dickinson, Ian Glaspole, Yuben P Moodley, Martina Koziar Vasakova, Elisabeth Bendstrup, Jesper R Davidsen, Raphael Borie, Bruno Crestani, Philippe Dieude, Francesco Bonella, Ulrich Costabel, Gunnar Gudmundsson, Seamas C Donnelly, Jim Egan, Michael T Henry, Michael P Keane, Marcus P Kennedy, Cormac McCarthy, Aoife N McElroy, Joshua A Olaniyi, Katherine M A O'Reilly, Luca Richeldi, Paolo M Leone, Venerino Poletti, Francesco Puppo, Sara Tomassetti, Valentina Luzzi, Nurdan Kokturk, Nesrin Mogulkoc, Christine A Fiddler, Nikhil Hirani, R Gisli Jenkins, Toby M Maher, Philip L Molyneaux, Helen Parfrey, Rebecca Braybrooke, Timothy S Blackwell, Peter D Jackson, Steven D Nathan, Mary K Porteous, Kevin K Brown, Jason D Christie, Harold R Collard, Oliver Eickelberg, Elena E Foster, Kevin F Gibson, Marilyn Glassberg, Daniel J Kass, Jonathan A Kropski, David Lederer, Angela L Linderholm, Jim Loyd, Susan K Mathai, Sydney B Montesi, Imre Noth, Justin M Oldham, Amy J Palmisciano, Cristina A Reichner, Mauricio Rojas, Jesse Roman, Neil Schluger, Barry S Shea, Jeffrey J Swigris, Paul J Wolters, Yingze Zhang, Cecilia M A Prele, Juan I Enghelmayer, Maria Otaola, Christopher J Ryerson, Mauricio Salinas, Martina Sterclova, Tewodros H Gebremariam, Marjukka Myllärniemi, Roberto G Carbone, Haruhiko Furusawa, Masaki Hirose, Yoshikazu Inoue, Yasunari Miyazaki, Ken Ohta, Shin Ohta, Tsukasa Okamoto, Dong Soon Kim, Annie Pardo, Moises Selman, Alvaro U Aranda, Moo Suk Park, Jong Sun Park, Jin Woo Song, Maria Molina-Molina, Lurdes Planas-Cerezales, Gunilla Westergren-Thorsson, Albert V Smith, Ani W Manichaikul, John S Kim

مصطلحات موضوعية: Exome, Humans, Idiopathic Pulmonary Fibrosis* / genetics, Whole Genome Sequencing, TOPMed, genetic association studies, interstitial lung disease, telomerase, whole-genome sequencing

العلاقة: AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE; J00112; OAK-2023-01967; https://ir.ymlib.yonsei.ac.kr/handle/22282913/195520Test; T202303493; AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, Vol.207(9) : 1194-1202, 2023-05

الإتاحة: https://doi.org/10.1164/rccm.202207-1331OCTest
https://ir.ymlib.yonsei.ac.kr/handle/22282913/195520Test

المؤلفون: Rodenburg, Lisa W, Metzemaekers, Mieke, van der Windt, Isabelle S, Smits, Shannon M A, den Hertog-Oosterhoff, Loes A, Kruisselbrink, Evelien, Brunsveld, Jesse E, Michel, Sabine, de Winter-de Groot, Karin M, van der Ent, Cornelis K, Stadhouders, Ralph, Beekman, Jeffrey M, Amatngalim, Gimano D

المساهمون: Longziekten onderzoek 2, Regenerative Medicine and Stem Cells, CTI, Longziekten patientenzorg, Child Health, Speerpunt Child Health, Infection & Immunity, Onderzoek

مصطلحات موضوعية: Cells, Cultured, Cystic Fibrosis Transmembrane Conductance Regulator/metabolism, Cystic Fibrosis/genetics, Epithelial Cells/metabolism, Humans, Nose, Respiratory Mucosa/metabolism, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/450346Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/450346Test

المؤلفون: Uhl, Franziska E, Vanherle, Lotte, Meissner, Anja

المصدر: Frontiers in Immunology. 13

مصطلحات موضوعية: Animals, Cystic Fibrosis/genetics, Cystic Fibrosis Transmembrane Conductance Regulator/genetics, Heart Failure/drug therapy, Humans, Inflammation, Mice, Pneumonia/drug therapy, Quality of Life, Medicin och hälsovetenskap, Hälsovetenskap, Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi, Medical and Health Sciences, Health Sciences, Public Health, Global Health, Social Medicine and Epidemiology, Naturvetenskap, Biologi, Immunologi, Natural Sciences, Biological Sciences, Immunology

الوصول الحر: https://lup.lub.lu.se/record/ce18685f-6e4e-4bea-827e-31f8ab602111Test
http://dx.doi.org/10.3389/fimmu.2022.928300Test

المؤلفون: Amatngalim, Gimano D, Rodenburg, Lisa W, Aalbers, Bente L, Raeven, Henriette Hm, Aarts, Ellen M, Sarhane, Dounia, Spelier, Sacha, Lefferts, Juliet W, Silva, Iris Al, Nijenhuis, Wilco, Vrendenbarg, Sacha, Kruisselbrink, Evelien, Brunsveld, Jesse E, van Drunen, Cornelis M, Michel, Sabine, de Winter-de Groot, Karin M, Heijerman, Harry G, Kapitein, Lukas C, Amaral, Magarida D, van der Ent, Cornelis K, Beekman, Jeffrey M

المساهمون: Longziekten onderzoek 2, Child Health, Arts Assistenten Longziekten, Infection & Immunity, Cancer, CTI, Longziekten patientenzorg, Longziekten, Speerpunt Child Health, Onderzoek, Regenerative Medicine and Stem Cells

مصطلحات موضوعية: Cells, Cultured, Cystic Fibrosis Transmembrane Conductance Regulator/genetics, Cystic Fibrosis/genetics, Epithelial Cells, Humans, Organoids, Journal Article, Research Support, Non-U.S. Gov't

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/446965Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/446965Test

المؤلفون: Bergougnoux, Anne, Billet, A., Ka, C., Heller, M., Degrugillier, F., Vuillaume, M.-L., Thoreau, V., Sasorith, Souphatta, Bareil, C., Thèze, C., Ferec, C., Gac, G. Le, Bienvenu, T., Bieth, E., Gaston, V., Lalau, G., Pagin, A., Malinge, M.-C., Dufernez, F., Lemonnier, L., Koenig, Michel, Fergelot, P., Claustres, Mireille, Taulan, Magali, Kitzis, A., Reboul, M.-P., Becq, F., Fanen, P., Mekki, C., Audrezet, M.-P., Girodon, E., Raynal, Caroline

المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Structures tissulaires et interactions moléculaires (STIM), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Hôpital Cochin AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), CHU de Bordeaux Pellegrin Bordeaux, Unité neurovasculaire et troubles cognitifs (Neuvacod), Université de Poitiers, Service Génétique Médicale CHU Toulouse, Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Lille, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Service Génétique Médicale CHU Poitiers, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Association Vaincre La Mucoviscidose, Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Signalisation et Transports Ioniques Membranaires (STIM), Université de Poitiers-Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS), Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)

المصدر: ISSN: 1569-1993.

مصطلحات موضوعية: MESH: Cystic Fibrosis Transmembrane Conductance Regulator / genetics, MESH: Cystic Fibrosis / drug therapy, MESH: Cystic Fibrosis / genetics, MESH: Exons, MESH: Humans, MESH: Mutation, Missense, MESH: RNA Splicing / genetics, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: hal-03913493; https://hal.science/hal-03913493Test; https://hal.science/hal-03913493/documentTest; https://hal.science/hal-03913493/file/2022%20Bergougnoux%20et%20al.,%20The%20multi.pdfTest

الإتاحة: https://doi.org/10.1016/j.jcf.2022.12.003Test
https://hal.science/hal-03913493Test
https://hal.science/hal-03913493/documentTest
https://hal.science/hal-03913493/file/2022%20Bergougnoux%20et%20al.,%20The%20multi.pdfTest

المؤلفون: Farhat, Raëd, El-Seedy, Ayman, Pasquet, Marie-Claude, Corbani, Sandra, Mégarbané, André, Ladeveze, Veronique, Kitzis, Alain

المساهمون: Unité neurovasculaire et troubles cognitifs EA 3808 (Neuvacod Poitiers ), Université de Poitiers = University of Poitiers (UP), Alexandria University Alexandrie, Service de Génétique Médicale CHU Poitiers, Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Université Saint-Joseph de Beyrouth (USJ), Institut Jérôme Lejeune

المصدر: ISSN: 0145-5680.

مصطلحات موضوعية: CF N1303K Complex alleles hybrid minigene splicing, CF, N1303K, Complex alleles, hybrid minigene, splicing, MESH: Alleles, MESH: Cystic Fibrosis Transmembrane Conductance Regulator* / genetics, MESH: Cystic Fibrosis* / genetics, MESH: HEK293 Cells, MESH: Humans, MESH: Mediterranean Region, MESH: Mutation / genetics, MESH: RNA, Messenger, [SDV]Life Sciences [q-bio], [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: hal-04532060; https://hal.science/hal-04532060Test; https://hal.science/hal-04532060/documentTest; https://hal.science/hal-04532060/file/4363-Article%20Text-10013-10516-10-20220821.pdfTest

الإتاحة: https://doi.org/10.14715/cmb/2022.68.4.7Test
https://hal.science/hal-04532060Test
https://hal.science/hal-04532060/documentTest
https://hal.science/hal-04532060/file/4363-Article%20Text-10013-10516-10-20220821.pdfTest

المؤلفون: Le Goff, Caroline

المصدر: Experimental Physiology, 108 (10), 1257 - 1258 (2023-10)

مصطلحات موضوعية: Galectin-3, cardiac fibrosis, endurance, sport, suppression of tumorigenicity 2, Biomarkers, Galectin 3, IL1RL1 protein, human, Interleukin-1 Receptor-Like 1 Protein, LGALS3 protein, human, Humans, Biomarkers/analysis, Fibrosis/genetics, Fibrosis/pathology, Galectin 3/analysis, Galectin 3/genetics, Heart Diseases/genetics, Heart Diseases/metabolism, Heart Diseases/pathology, Interleukin-1 Receptor-Like 1 Protein/analysis, Interleukin-1 Receptor-Like 1 Protein/genetics, Sports, Fibrosis, Heart Diseases, Physiology, Nutrition and Dietetics, Physiology (medical), Human health sciences, Cardiovascular & respiratory systems, Sciences de la santé humaine, Systèmes cardiovasculaire & respiratoire

العلاقة: urn:issn:0958-0670; urn:issn:1469-445X

الوصول الحر: https://orbi.uliege.be/handle/2268/311817Test

المؤلفون: Bonella, Francesco, Campo, Ilaria, Zorzetto, Michele, Boerner, Eda, Ohshimo, Shinichiro, Theegarten, Dirk, Taube, Christian, Costabel, Ulrich

المصدر: http://lobid.org/resources/99370675069506441Test#!, 16(1):111.

مصطلحات موضوعية: Genetic Predisposition to Disease [MeSH], Disease progression, Polymorphism, Single Nucleotide [MeSH], Humans [MeSH], IPF, Retrospective Studies [MeSH], Rare pulmonary diseases, Intracellular Signaling Peptides and Proteins/genetics [MeSH], Idiopathic Pulmonary Fibrosis/genetics [MeSH], Research, TOLLIP, Genotype [MeSH], MUC5B, Mucin-5B/genetics [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6464767Test; https://doi.org/10.1186/s13023-021-01750-3Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913255Test/

الإتاحة: https://doi.org/10.1186/s13023-021-01750-3Test
https://repository.publisso.de/resource/frl:6464767Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913255Test/