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4. Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease. Knowles BC; Roland JT; Krishnan M; Tyska MJ; Lapierre LA; Dickman PS; Goldenring JR; Shub MD J Clin Invest; 2014 Jul; 124(7):2947-62. PubMed ID: 24892806 [TBL] [Abstract][Full Text] [Related]
5. Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. Szperl AM; Golachowska MR; Bruinenberg M; Prekeris R; Thunnissen AM; Karrenbeld A; Dijkstra G; Hoekstra D; Mercer D; Ksiazyk J; Wijmenga C; Wapenaar MC; Rings EH; van IJzendoorn SC J Pediatr Gastroenterol Nutr; 2011 Mar; 52(3):307-13. PubMed ID: 21206382 [TBL] [Abstract][Full Text] [Related]
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7. An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations. van der Velde KJ; Dhekne HS; Swertz MA; Sirigu S; Ropars V; Vinke PC; Rengaw T; van den Akker PC; Rings EH; Houdusse A; van Ijzendoorn SC Hum Mutat; 2013 Dec; 34(12):1597-605. PubMed ID: 24014347 [TBL] [Abstract][Full Text] [Related]
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9. MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease. Girard M; Lacaille F; Verkarre V; Mategot R; Feldmann G; Grodet A; Sauvat F; Irtan S; Davit-Spraul A; Jacquemin E; Ruemmele F; Rainteau D; Goulet O; Colomb V; Chardot C; Henrion-Caude A; Debray D Hepatology; 2014 Jul; 60(1):301-10. PubMed ID: 24375397 [TBL] [Abstract][Full Text] [Related]
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14. Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. Ruemmele FM; Müller T; Schiefermeier N; Ebner HL; Lechner S; Pfaller K; Thöni CE; Goulet O; Lacaille F; Schmitz J; Colomb V; Sauvat F; Revillon Y; Canioni D; Brousse N; de Saint-Basile G; Lefebvre J; Heinz-Erian P; Enninger A; Utermann G; Hess MW; Janecke AR; Huber LA Hum Mutat; 2010 May; 31(5):544-51. PubMed ID: 20186687 [TBL] [Abstract][Full Text] [Related]
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17. Altered MYO5B Function Underlies Microvillus Inclusion Disease: Opportunities for Intervention at a Cellular Level. Bowman DM; Kaji I; Goldenring JR Cell Mol Gastroenterol Hepatol; 2022; 14(3):553-565. PubMed ID: 35660026 [TBL] [Abstract][Full Text] [Related]
18. Glucocorticoids and myosin5b loss of function induce heightened PKA signaling in addition to membrane traffic defects. Forteza R; Ahsan MK; Cartón-García F; Arango D; Ameen NA; Salas PJ Mol Biol Cell; 2019 Dec; 30(26):3076-3089. PubMed ID: 31664880 [TBL] [Abstract][Full Text] [Related]
19. A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy. Li Q; Zhou Z; Sun Y; Sun C; Klappe K; van IJzendoorn SCD Cell Mol Gastroenterol Hepatol; 2022; 14(2):295-310. PubMed ID: 35421597 [TBL] [Abstract][Full Text] [Related]
20. Patient-derived enteroids provide a platform for the development of therapeutic approaches in microvillus inclusion disease. Kalashyan M; Raghunathan K; Oller H; Bayer MT; Jimenez L; Roland JT; Kolobova E; Hagen SJ; Goldsmith JD; Shub MD; Goldenring JR; Kaji I; Thiagarajah JR J Clin Invest; 2023 Oct; 133(20):. PubMed ID: 37643022 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]