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The SZT2 Interactome Unravels New Functions of the KICSTOR Complex.
Cattelani C, Lesiak D, Liebscher G, Singer II, Stasyk T, Wallnöfer MH, Heberle AM, Corti C, Hess MW, Pfaller K, Kwiatkowski M, Pramstaller PP, Hicks AA, Thedieck K, Müller T, Huber LA, Eca Guimaraes de Araujo M. Cattelani C, et al. Among authors: muller t. Cells. 2021 Oct 9;10(10):2711. doi: 10.3390/cells10102711. Cells. 2021. PMID: 34685691 Free PMC article.
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. Müller T, et al. Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24. Nat Genet. 2008. PMID: 18724368
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. Wiegerinck CL, et al. Among authors: muller t. Gastroenterology. 2014 Jul;147(1):65-68.e10. doi: 10.1053/j.gastro.2014.04.002. Epub 2014 Apr 12. Gastroenterology. 2014. PMID: 24726755
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. Schneeberger K, et al. Among authors: muller t. Proc Natl Acad Sci U S A. 2015 Oct 6;112(40):12408-13. doi: 10.1073/pnas.1516672112. Epub 2015 Sep 21. Proc Natl Acad Sci U S A. 2015. PMID: 26392529 Free PMC article.
Towards understanding microvillus inclusion disease.
Vogel GF, Hess MW, Pfaller K, Huber LA, Janecke AR, Müller T. Vogel GF, et al. Among authors: muller t. Mol Cell Pediatr. 2016 Dec;3(1):3. doi: 10.1186/s40348-016-0031-0. Epub 2016 Jan 29. Mol Cell Pediatr. 2016. PMID: 26830108 Free PMC article.
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, Krainer I, Huber LA, Hess MW, Frishberg Y, Barash H, Tzur S, Schreyer-Shafir N, Sukenik-Halevy R, Zehavi T, Raas-Rothschild A, Mao C, Müller T. Janecke AR, et al. Among authors: muller t. Hum Mutat. 2017 Apr;38(4):365-372. doi: 10.1002/humu.23192. Epub 2017 Mar 6. Hum Mutat. 2017. PMID: 28181337 Free PMC article.
Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations.
Vogel GF, van Rijn JM, Krainer IM, Janecke AR, Posovszky C, Cohen M, Searle C, Jantchou P, Escher JC, Patey N, Cutz E, Müller T, Middendorp S, Hess MW, Huber LA. Vogel GF, et al. Among authors: muller t. JCI Insight. 2017 Jul 20;2(14):e94564. doi: 10.1172/jci.insight.94564. eCollection 2017 Jul 20. JCI Insight. 2017. PMID: 28724787 Free PMC article.
4,359 results