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Items: 1 to 20 of 89

1.

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. doi: 10.1097/MPG.0b013e3181eea177.

2.

Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity.

Thoeni CE, Vogel GF, Tancevski I, Geley S, Lechner S, Pfaller K, Hess MW, Müller T, Janecke AR, Avitzur Y, Muise A, Cutz E, Huber LA.

Traffic. 2014 Jan;15(1):22-42. doi: 10.1111/tra.12131. Epub 2013 Nov 19.

3.

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 15;307(10):G992-G1001. doi: 10.1152/ajpgi.00180.2014. Epub 2014 Sep 25.

4.

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. doi: 10.1097/MPG.0b013e3182353773.

PMID:
22441677
5.

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. doi: 10.1172/JCI71651. Epub 2014 Jun 2.

6.

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. doi: 10.1002/humu.22440. Epub 2013 Oct 16. Review.

PMID:
24014347
7.

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. doi: 10.1002/hep.26974. Epub 2014 May 27.

PMID:
24375397
8.

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 6;112(40):12408-13. doi: 10.1073/pnas.1516672112. Epub 2015 Sep 21.

9.

Identification of intestinal ion transport defects in microvillus inclusion disease.

Kravtsov DV, Ahsan MK, Kumari V, van Ijzendoorn SC, Reyes-Mugica M, Kumar A, Gujral T, Dudeja PK, Ameen NA.

Am J Physiol Gastrointest Liver Physiol. 2016 Jul 1;311(1):G142-55. doi: 10.1152/ajpgi.00041.2016. Epub 2016 May 26.

10.

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. doi: 10.1002/humu.21224.

PMID:
20186687
11.

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. doi: 10.1111/boc.201500034. Epub 2015 Dec 8.

12.

Myosin Vb and Rab11a regulate phosphorylation of ezrin in enterocytes.

Dhekne HS, Hsiao NH, Roelofs P, Kumari M, Slim CL, Rings EH, van Ijzendoorn SC.

J Cell Sci. 2014 Mar 1;127(Pt 5):1007-17. doi: 10.1242/jcs.137273. Epub 2014 Jan 10.

13.

Loss of syntaxin 3 causes variant microvillus inclusion disease.

Wiegerinck CL, Janecke AR, Schneeberger K, Vogel GF, van Haaften-Visser DY, Escher JC, Adam R, Thöni CE, Pfaller K, Jordan AJ, Weis CA, Nijman IJ, Monroe GR, van Hasselt PM, Cutz E, Klumperman J, Clevers H, Nieuwenhuis EE, Houwen RH, van Haaften G, Hess MW, Huber LA, Stapelbroek JM, Müller T, Middendorp S.

Gastroenterology. 2014 Jul;147(1):65-68.e10. doi: 10.1053/j.gastro.2014.04.002. Epub 2014 Apr 12.

PMID:
24726755
14.

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

Müller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, Ponstingl H, Partsch J, Röllinghoff B, Köhler H, Berger T, Lenhartz H, Schlenck B, Houwen RJ, Taylor CJ, Zoller H, Lechner S, Goulet O, Utermann G, Ruemmele FM, Huber LA, Janecke AR.

Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24.

PMID:
18724368
15.

Microvillous atrophy: atypical presentations.

Perry A, Bensallah H, Martinez-Vinson C, Berrebi D, Arbeille B, Salomon J, Goulet O, Marinier E, Drunat S, Samson-Bouma ME, Gérard B, Hugot JP.

J Pediatr Gastroenterol Nutr. 2014 Dec;59(6):779-85. doi: 10.1097/MPG.0000000000000526.

PMID:
25111220
16.

Myo5b knockout mice as a model of microvillus inclusion disease.

Cartón-García F, Overeem AW, Nieto R, Bazzocco S, Dopeso H, Macaya I, Bilic J, Landolfi S, Hernandez-Losa J, Schwartz S Jr, Ramon y Cajal S, van Ijzendoorn SC, Arango D.

Sci Rep. 2015 Jul 23;5:12312. doi: 10.1038/srep12312.

17.

Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3.

Vogel GF, Klee KM, Janecke AR, Müller T, Hess MW, Huber LA.

J Cell Biol. 2015 Nov 9;211(3):587-604. doi: 10.1083/jcb.201506112.

18.

Rab11 is a useful tool for the diagnosis of microvillous inclusion disease.

Talmon G, Holzapfel M, DiMaio DJ, Muirhead D.

Int J Surg Pathol. 2012 Jun;20(3):252-6. doi: 10.1177/1066896911430959. Epub 2011 Dec 14.

PMID:
22169970
19.

[Phenotypic and genetic analysis of a family affected with microvillus inclusion disease].

Mao M, Guo L, Zhang Z, Wang B, Huang S, Song Y, Chen F, Wen W.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Dec 10;33(6):792-796. Chinese.

PMID:
27984607
20.

Extraintestinal manifestations in an infant with microvillus inclusion disease: complications or features of the disease?

Siahanidou T, Koutsounaki E, Skiathitou AV, Stefanaki K, Marinos E, Panajiotou I, Chouliaras G.

Eur J Pediatr. 2013 Sep;172(9):1271-5. doi: 10.1007/s00431-013-1948-0. Epub 2013 Jan 25.

PMID:
23354788

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