المؤلفون: Mingyue Sun, Olena Pylypenko, Zhe Zhou, Mingqian Xu, Qinghong Li, Anne Houdusse, Sven C.D. van IJzendoorn

المصدر: Cellular and Molecular Gastroenterology and Hepatology, Vol 17, Iss 6, Pp 983-1005 (2024)

مصطلحات موضوعية: microvillus inclusion disease, MVID, PFIC10, MYO5B deficiency, cholestasis, MYO5B, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2352345X2400016XTest; https://doaj.org/toc/2352-345XTest

الوصول الحر: https://doaj.org/article/c65a3f8bf8c842dabe04a6095fe2e333Test

المؤلفون: Katharina MC Klee, Michael W Hess, Michael Lohmüller, Sebastian Herzog, Kristian Pfaller, Thomas Müller, Georg F Vogel, Lukas A Huber

المصدر: eLife, Vol 12 (2023)

مصطلحات موضوعية: CRISPR, loss-of-function screen, epithelial polarity, membrane transport, electron microscopy, microvillus inclusion disease, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/80135Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/8df03ae96a5f4605be497b42d8888f95Test

المؤلفون: Weihui Yan, Yongtao Xiao, Yunyi Zhang, Yijing Tao, Yi Cao, Kunhui Liu, Wei Cai, Ying Wang

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)

مصطلحات موضوعية: Microvillus inclusion disease, Congenital chloride diarrhea, Congenital tufting enteropathy, Neonatal-onset diarrhea, Whole-exome sequencing, Monogenetic mutation, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/08068b112e3342bd91cfc4fc1bd78a60Test

المؤلفون: Hong, Sung Noh, Dunn, James CY, Stelzner, Matthias, Martín, Martín G

المصدر: Stem Cells Translational Medicine. 6(2)

مصطلحات موضوعية: Medical Biotechnology, Biomedical and Clinical Sciences, Digestive Diseases, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Stem Cell Research - Nonembryonic - Non-Human, Regenerative Medicine, Transplantation, Stem Cell Research - Induced Pluripotent Stem Cell, Biotechnology, Hematology, Stem Cell Research, Stem Cell Research - Nonembryonic - Human, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, Oral and gastrointestinal, Good Health and Well Being, Animals, CRISPR-Cas Systems, Cell Differentiation, Cell Lineage, Cell Proliferation, Gene Editing, Gene Expression Regulation, Developmental, Humans, Intestines, Recovery of Function, Regeneration, Risk Factors, Short Bowel Syndrome, Signal Transduction, Stem Cell Transplantation, Stem Cells, Treatment Outcome, Intestinal failure, Congenital diarrhea, Microvillus inclusion disease, Congenital tufting enteropathy, Intestinal stem cell, Biochemistry and Cell Biology, Clinical Sciences, Medical biotechnology, Biomedical engineering

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1qr6h03tTest

المؤلفون: Hong, Sung Noh, Dunn, James CY, Stelzner, Matthias, Martín, Martín G

المصدر: Stem cells translational medicine. 6(2)

مصطلحات موضوعية: Congenital diarrhea, Congenital tufting enteropathy, Intestinal failure, Intestinal stem cell, Microvillus inclusion disease, Animals, CRISPR-Cas Systems, Cell Differentiation, Cell Lineage, Cell Proliferation, Gene Editing, Gene Expression Regulation, Developmental, Humans, Intestines, Recovery of Function, Regeneration, Risk Factors, Short Bowel Syndrome, Signal Transduction, Stem Cell Transplantation, Stem Cells, Treatment Outcome, Biochemistry and Cell Biology, Medical Biotechnology, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1qr6h03tTest

المؤلفون: Amy C. Engevik, Evan S. Krystofiak, Izumi Kaji, Anne R. Meyer, Victoria G. Weis, Anna Goldstein, Alexander W. Coutts, Tamene Melkamu, Milena Saqui-Salces, James R. Goldenring

المصدر: Cellular and Molecular Gastroenterology and Hepatology, Vol 12, Iss 1, Pp 59-80 (2021)

مصطلحات موضوعية: Microvillus Inclusion Disease (MVID), Myosin Vb, Polarity, Tight Junctions, Inclusions, Apical Bulk Endocytosis, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2352345X2100028XTest; https://doaj.org/toc/2352-345XTest

الوصول الحر: https://doaj.org/article/096b00d5a11947cb81542a35ba8593cdTest

المؤلفون: Bidaud-Meynard, Aurélien, Nicolle, Ophélie, Bourdais, Anne, Duclos, Maela, Saleh, Jad, Ruemmele, Frank, Farin, Henner, F, Delacour, Delphine, Moshous, Despina, Michaux, Grégoire

المساهمون: Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), École des Hautes Études en Santé Publique EHESP (EHESP), Université de Rennes (UR), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Service d'immuno-hématologie pédiatrique CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Institute for Tumor Biology and Experimental Therapy Frankfurt, Germany, German Cancer Consortium Heidelberg (DKTK), Goethe University Frankfurt

المصدر: ISSN: 2692-8205 ; BioRxiv ; https://hal.science/hal-03854108Test ; BioRxiv, 2022, ⟨10.1101/2022.11.04.515188⟩.

مصطلحات موضوعية: MVID, microvillus inclusion disease, MVI, microvillus inclusion, [SDV]Life Sciences [q-bio]

العلاقة: hal-03854108; https://hal.science/hal-03854108Test; https://hal.science/hal-03854108/documentTest; https://hal.science/hal-03854108/file/2022.11.04.515188v1.full.pdfTest

الإتاحة: https://doi.org/10.1101/2022.11.04.515188Test
https://hal.science/hal-03854108Test
https://hal.science/hal-03854108/documentTest
https://hal.science/hal-03854108/file/2022.11.04.515188v1.full.pdfTest

المؤلفون: Yue Sun, Changsen Leng, Sven C. D. van Ijzendoorn

المصدر: Journal of Clinical Medicine; Volume 11; Issue 15; Pages: 4331

مصطلحات موضوعية: microvillus inclusion disease, prenatal bowel abnormalities, congenital diarrhea

وصف الملف: application/pdf

العلاقة: Gastroenterology & Hepatopancreatobiliary Medicine; https://dx.doi.org/10.3390/jcm11154331Test

الإتاحة: https://doi.org/10.3390/jcm11154331Test

المؤلفون: Aldrian, Denise, Vogel, Georg F., Frey, Teresa K., Ayyıldız Civan, Hasret, Aksu, Aysel Ünlüsoy, Avitzur, Yaron, Ramos Boluda, Esther, Çakır, Murat, Demir, Arzu Meltem, Deppisch, Caroline, Duba, Hans-Christoph, Düker, Gesche, Gerner, Patrick, Hertecant, Jozef, Hornová, Jarmila, Kathemann, Simone, Koeglmeier, Jutta, Koutroumpa, Arsinoi, Lanzersdorfer, Roland, Lev-Tzion, Raffi, Lima, Rosa, Mansour, Sahar, Meissl, Manfred, Melek, Jan, Miqdady, Mohamad, Montoya, Jorge Hernan, Posovszky, Carsten, Rachman, Yelena, Siahanidou, Tania, Tabbers, Merit, Uhlig, Holm H., Ünal, Sevim, Wirth, Stefan, Ruemmele, Frank M., Hess, Michael W., Huber, Lukas A., Müller, Thomas, Sturm, Ekkehard, Janecke, Andreas R.

مصطلحات موضوعية: congenital diarrheal diseases, enteropathy, microvillus inclusion disease, MYO5B, myosin Vb, progressive familial intrahepatic cholestasis, PFIC, genotype–phenotype correlation, lack of protein, tail domain, DDC 610 / Medicine & health, Diarrhea, Cholestasis, Myosins, Kontraktile Proteine, Cholestase, Durchfall, Myosin

وصف الملف: application/pdf

العلاقة: https://www.mdpi.com/2077-0383/10/3/481/s1Test; http://dx.doi.org/10.18725/OPARU-43530Test; https://oparu.uni-ulm.de/xmlui/123456789/43606Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-43606-5Test

الإتاحة: https://doi.org/10.18725/OPARU-43530Test
https://oparu.uni-ulm.de/xmlui/123456789/43606Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-43606-5Test

المؤلفون: Leng, Changsen, Rings, Edmond H. H. M., de Wildt, Saskia N., van IJzendoorn, Sven C. D.

المصدر: Leng , C , Rings , E H H M , de Wildt , S N & van IJzendoorn , S C D 2021 , ' Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease ' , Journal of Clinical Medicine , vol. 10 , no. 1 , 22 . https://doi.org/10.3390/jcm10010022Test

مصطلحات موضوعية: microvillus inclusion disease, MYO5B, myosin Vb, congenital diarrheal disorder, malabsorption, EPIDERMAL-GROWTH-FACTOR, EPITHELIAL-CELLS, CHRONIC DIARRHEA, MUTATIONS, ATROPHY, NHE3, SOMATOSTATIN, MECHANISMS

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/bc660afd-34d0-472e-863d-78225a5cd313Test

الإتاحة: https://doi.org/10.3390/jcm10010022Test
https://hdl.handle.net/11370/bc660afd-34d0-472e-863d-78225a5cd313Test
https://research.rug.nl/en/publications/bc660afd-34d0-472e-863d-78225a5cd313Test
https://pure.rug.nl/ws/files/160009825/Pharmacological_and_Parenteral_Nutrition_Based_Interventions_in_Microvillus_Inclusion_Disease.pdfTest