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MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
Dhekne HS, Pylypenko O, Overeem AW, Zibouche M, Ferreira RJ, van der Velde KJ, Rings EHHM, Posovszky C, van der Sluijs P, Swertz MA, Houdusse A, van IJzendoorn SCD. Dhekne HS, et al. Hum Mutat. 2018 Mar;39(3):333-344. doi: 10.1002/humu.23386. Epub 2018 Jan 17. Hum Mutat. 2018. PMID: 29266534 Free PMC article. Review.
Epithelial cell-cell junctions and plasma membrane domains.
Giepmans BN, van Ijzendoorn SC. Giepmans BN, et al. Among authors: van ijzendoorn sc. Biochim Biophys Acta. 2009 Apr;1788(4):820-31. doi: 10.1016/j.bbamem.2008.07.015. Epub 2008 Jul 28. Biochim Biophys Acta. 2009. PMID: 18706883 Free article. Review.
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. Cartón-García F, et al. Among authors: van ijzendoorn sc. Sci Rep. 2015 Jul 23;5:12312. doi: 10.1038/srep12312. Sci Rep. 2015. PMID: 26201991 Free PMC article.
82 results