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Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
Frank V, Habbig S, Bartram MP, Eisenberger T, Veenstra-Knol HE, Decker C, Boorsma RA, Göbel H, Nürnberg G, Griessmann A, Franke M, Borgal L, Kohli P, Völker LA, Dötsch J, Nürnberg P, Benzing T, Bolz HJ, Johnson C, Gerkes EH, Schermer B, Bergmann C. Frank V, et al. Among authors: gobel h. Hum Mol Genet. 2013 Jun 1;22(11):2177-85. doi: 10.1093/hmg/ddt070. Epub 2013 Feb 14. Hum Mol Genet. 2013. PMID: 23418306
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M. Laghmani K, et al. Among authors: gobel h. N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27. N Engl J Med. 2016. PMID: 27120771 Free article.
YAP-mediated mechanotransduction determines the podocyte's response to damage.
Rinschen MM, Grahammer F, Hoppe AK, Kohli P, Hagmann H, Kretz O, Bertsch S, Höhne M, Göbel H, Bartram MP, Gandhirajan RK, Krüger M, Brinkkoetter PT, Huber TB, Kann M, Wickström SA, Benzing T, Schermer B. Rinschen MM, et al. Among authors: gobel h. Sci Signal. 2017 Apr 11;10(474):eaaf8165. doi: 10.1126/scisignal.aaf8165. Sci Signal. 2017. PMID: 28400537
Magnetic resonance T2 mapping and diffusion-weighted imaging for early detection of cystogenesis and response to therapy in a mouse model of polycystic kidney disease.
Franke M, Baeßler B, Vechtel J, Dafinger C, Höhne M, Borgal L, Göbel H, Koerber F, Maintz D, Benzing T, Schermer B, Persigehl T. Franke M, et al. Among authors: gobel h. Kidney Int. 2017 Dec;92(6):1544-1554. doi: 10.1016/j.kint.2017.05.024. Epub 2017 Jul 26. Kidney Int. 2017. PMID: 28754558 Free article.
Single-nephron proteomes connect morphology and function in proteinuric kidney disease.
Höhne M, Frese CK, Grahammer F, Dafinger C, Ciarimboli G, Butt L, Binz J, Hackl MJ, Rahmatollahi M, Kann M, Schneider S, Altintas MM, Schermer B, Reinheckel T, Göbel H, Reiser J, Huber TB, Kramann R, Seeger-Nukpezah T, Liebau MC, Beck BB, Benzing T, Beyer A, Rinschen MM. Höhne M, et al. Among authors: gobel h. Kidney Int. 2018 Jun;93(6):1308-1319. doi: 10.1016/j.kint.2017.12.012. Epub 2018 Mar 9. Kidney Int. 2018. PMID: 29530281 Free article.
Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus.
Dafinger C, Rinschen MM, Borgal L, Ehrenberg C, Basten SG, Franke M, Höhne M, Rauh M, Göbel H, Bloch W, Wunderlich FT, Peters DJM, Tasche D, Mishra T, Habbig S, Dötsch J, Müller RU, Brüning JC, Persigehl T, Giles RH, Benzing T, Schermer B, Liebau MC. Dafinger C, et al. Among authors: gobel h. Exp Mol Med. 2018 Jun 28;50(6):1-17. doi: 10.1038/s12276-018-0108-z. Exp Mol Med. 2018. PMID: 29959317 Free PMC article.
300 results