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Page 1
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ. Beck BB, et al. Among authors: pannes a. Hum Mutat. 2014 Oct;35(10):1153-62. doi: 10.1002/humu.22618. Epub 2014 Aug 11. Hum Mutat. 2014. PMID: 25044745 Free PMC article.
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.
Ekici AB, Hackenbeck T, Morinière V, Pannes A, Buettner M, Uebe S, Janka R, Wiesener A, Hermann I, Grupp S, Hornberger M, Huber TB, Isbel N, Mangos G, McGinn S, Soreth-Rieke D, Beck BB, Uder M, Amann K, Antignac C, Reis A, Eckardt KU, Wiesener MS. Ekici AB, et al. Among authors: pannes a. Kidney Int. 2014 Sep;86(3):589-99. doi: 10.1038/ki.2014.72. Epub 2014 Mar 26. Kidney Int. 2014. PMID: 24670410 Free article.
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.
Wenzel A, Altmueller J, Ekici AB, Popp B, Stueber K, Thiele H, Pannes A, Staubach S, Salido E, Nuernberg P, Reinhardt R, Reis A, Rump P, Hanisch FG, Wolf MTF, Wiesener M, Huettel B, Beck BB. Wenzel A, et al. Among authors: pannes a. Sci Rep. 2018 Mar 8;8(1):4170. doi: 10.1038/s41598-018-22428-0. Sci Rep. 2018. PMID: 29520014 Free PMC article.