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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. Among authors: posovszky c. 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.
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: posovszky c. 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.
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.
Aldrian D, Vogel GF, Frey TK, Ayyıldız Civan H, Aksu AÜ, Avitzur Y, Ramos Boluda E, Çakır M, Demir AM, Deppisch C, Duba HC, Düker G, Gerner P, Hertecant J, Hornová J, Kathemann S, Koeglmeier J, Koutroumpa A, Lanzersdorfer R, Lev-Tzion R, Lima R, Mansour S, Meissl M, Melek J, Miqdady M, Montoya JH, Posovszky C, Rachman Y, Siahanidou T, Tabbers M, Uhlig HH, Ünal S, Wirth S, Ruemmele FM, Hess MW, Huber LA, Müller T, Sturm E, Janecke AR. Aldrian D, et al. Among authors: posovszky c. J Clin Med. 2021 Jan 28;10(3):481. doi: 10.3390/jcm10030481. J Clin Med. 2021. PMID: 33525641 Free PMC article.
81 results