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6. An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking. Schneeberger K; Vogel GF; Teunissen H; van Ommen DD; Begthel H; El Bouazzaoui L; van Vugt AH; Beekman JM; Klumperman J; Müller T; Janecke A; Gerner P; Huber LA; Hess MW; Clevers H; van Es JH; Nieuwenhuis EE; Middendorp S Proc Natl Acad Sci U S A; 2015 Oct; 112(40):12408-13. PubMed ID: 26392529 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome. Golachowska MR; van Dael CM; Keuning H; Karrenbeld A; Hoekstra D; Gijsbers CF; Benninga MA; Rings EH; van Ijzendoorn SC J Pediatr Gastroenterol Nutr; 2012 Apr; 54(4):491-8. PubMed ID: 22441677 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Lysophosphatidic Acid Increases Maturation of Brush Borders and SGLT1 Activity in MYO5B-deficient Mice, a Model of Microvillus Inclusion Disease. Kaji I; Roland JT; Watanabe M; Engevik AC; Goldstein AE; Hodges CA; Goldenring JR Gastroenterology; 2020 Oct; 159(4):1390-1405.e20. PubMed ID: 32534933 [TBL] [Abstract][Full Text] [Related]
14. Myosin 5b loss of function leads to defects in polarized signaling: implication for microvillus inclusion disease pathogenesis and treatment. Kravtsov D; Mashukova A; Forteza R; Rodriguez MM; Ameen NA; Salas PJ Am J Physiol Gastrointest Liver Physiol; 2014 Nov; 307(10):G992-G1001. PubMed ID: 25258405 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. The localisation of the apical Par/Cdc42 polarity module is specifically affected in microvillus inclusion disease. Michaux G; Massey-Harroche D; Nicolle O; Rabant M; Brousse N; Goulet O; Le Bivic A; Ruemmele FM Biol Cell; 2016 Jan; 108(1):19-28. PubMed ID: 26526116 [TBL] [Abstract][Full Text] [Related]
18. The zebrafish goosepimples/myosin Vb mutant exhibits cellular attributes of human microvillus inclusion disease. Sidhaye J; Pinto CS; Dharap S; Jacob T; Bhargava S; Sonawane M Mech Dev; 2016 Nov; 142():62-74. PubMed ID: 27497746 [TBL] [Abstract][Full Text] [Related]