2018
| Haumann S, Kathrin Burgmaier K, Bergmann C, Müller R, Liebau M, Erbliche Zystennierenerkrankungen: Autosomal-dominante und autosomal-rezessive polyzystische Nierenerkrankung (ADPKD und ARPKD) medgen, https://doi.org/10.1007/s11825-018-0224-0, 2018. |
| Titieni A, König J, Nephronophthise und assoziierte Ziliopathien medgen, https://doi.org/10.1007/s11825-018-0213-3 Biol Chem, 2018. |
| Hoff S, Epting D, Falk N, Schroda S, Braun DA, Halbritter J, Hildebrandt F, Kramer-Zucker A, Bergmann C, Walz G, Lienkamp SS. The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development. J Biol Chem 293(39):15243-15255, 2018. |
| Pauli S, Altmüller J, Schröder S, Ohlenbusch A, Dreha-Kulaczewski S, Bergmann C, Nürnberg P, Thiele H, Li Y, Wollnik B, Brockmann K. Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J Med Genet 2018. |
| Molinari E, Decker E, Mabillard H, Tellez J, Srivastava S, Raman S, Wood K, Kempf C, Alkanderi S, Ramsbottom SA, Miles CG, Johnson CA, Hildebrandt F, Bergmann C, Sayer JA. Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants. Eur J Hum Genet. 2018 |
| Bergmann C. Early and severe polycystic kidney disease and related ciliopathies: An emerging field of interest. Nephron. 2018. |
| Dafinger C, Rinschen MM, Borgal L, Ehrenberg C, Basten SG, Franke M, Höhne M, Rauh M, Göbel H, 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; Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus; Experimental Molecular Medicine (accepted for publication) |
| Kathrin Burgmaier, Kevin Kunzmann, Gema Ariceta, Carsten Bergmann, Anja Katrin Buescher, Reinhard Buettner, Mathias Burgmaier, Ismail Dursun, Ali Duzova, Loai Akram Eid, Markus Feldkoetter, Matthias Galiano, Michaela Gessner, Ibrahim Goekce, Dieter Haffner, Nakysa Hooman, Bernd Hoppe, Augustina Jankauskiene, Guenter Klaus, Jens König, Mieczyslaw Litwin, Laura Massella, Djalila Mekahli, Engin Melek, Monika Miklaszewska, Sevgi Mir, Lars Pape, Larisa Prikhodina, Bruno Ranchin,Tomas Seeman, Lale Sever, Rukshana Shroff, Neveen A. Soliman, Stella Stabouli, Malgorzata Stanczyk, Yilmaz Tabel, Katarzyna Taranta-Janusz, Sara Testa, Lutz Thorsten Weber, Dorota Wicher, Elke Wuehl,Simone Wygoda, Alev Yilmaz, Ilona Zagozdzon, Klaus Zerres, ESCAPE Study Group, GPN Study Group, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau for the ARegPKD consortium; Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease (ARPKD); J Pediatrics 2018 (accepted for publication) |
| König JC, Titieni A, Konrad M; NEOCYST Consortium. Network for Early Onset Cystic Kidney Diseases-A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood. ;Front Pediatr. 2018 Feb 13;6:24. doi: 10.3389/fped.2018.00024. eCollection 2018. PubMed PMID: 29497606; |
| 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; Individual nephron proteomes connect morphology and function in proteinuric kidney disease ; Kidney International 2018 Mar 9. pii: S0085-2538(18)30056-5. doi: 10.1016/j.kint.2017.12.012. [Epub ahead of print]) |
| König J, Titieni A, Konrad M; Network for Early Onset Cystic Kidney Diseases (NEOCYST) – a comprehensive multidisciplinary approach to hereditary cystic kidney diseases in childhood;Front Pediatr. 2018 Feb 13;6:24. doi: 10.3389 |
| Kakar N, Horn D, Decker E, Sowada N, Kubisch C, Ahmad J, Borck G, Bergmann C. ; Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies ; Am J Med Genet A. 2018 Feb;176(2):438-442. |
| Bergmann C; Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses ; Front Pediatr. 2018 Feb 9;5:221. |
2017
| Bergmann C. Recent advances in the molecular diagnosis of polycystic kidney disease. Expert Rev Mol Diagn. 2017 Dec;17(12):1037-1054. doi: 10.1080/14737159.2017.1386099. Epub 2017 Nov 16. PubMed PMID: 28952822. |
| Kathrin Ebner, Max C. Liebau;No general treatment recommendation for nephrectomy in prenatal suspicion of ARPKD; Der Urologe, 2017 Nov;56,(11), 1465–1466 |
| Gimpel C, Avni FE, Bergmann C, Cetiner M, Habbig S, Haffner D, König J, KonradM, Liebau MC, Pape L, Rellensmann G, Titieni A, von Kaisenberg C, Weber S, Winyard PJD, Schaefer F. Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases: A Clinical Practice Recommendation With Systematic Literature Reviews. JAMA Pediatr. 2017 Nov 27. doi: 10.1001/jamapediatrics.2017.3938. PubMed PMID: 29181500. |
| König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M; Gesellschaft für Pädiatrische Nephrologie (GPN). Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. Clin J Am Soc Nephrol. 2017 Nov 16. pii: CJN.01280217. doi: 10.2215/CJN.01280217. [Epub ahead of print] PubMed PMID: 29146700. |
| De Rechter S, Kringen J, Janssens P, Liebau MC, Devriendt K, Levtchenko E, Bergmann C, Jouret F, Bammens B, Borry P, Schaefer F, Mekahli D. Clinicians’ attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease. PLoS One. 2017 Sep 29;12(9):e0185779. doi: 10.1371/journal.pone.0185779. eCollection 2017. PubMed PMID: 28961265; |
| Kohli P, Höhne M, Jüngst C, Bertsch S, Ebert LK, Schauss AC, Benzing T, Rinschen MM, Schermer B. The ciliary membrane-associated proteome reveals actin-binding proteins as key components of cilia. EMBO Rep. 2017 Sep;18(9):1521-1535. doi: 10.15252/embr.201643846. Epub 2017 Jul 14. PubMed PMID: 28710093; PubMed Central PMCID: PMC5579364. |
| Bergmann C. Advances in renal genetic diagnosis. Cell Tissue Res. 2017 Jul;369(1):93-104. doi: 10.1007/s00441-017-2636-6. Epub 2017 Jun 9. Review. PubMed PMID: 28597138. |
| Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Brüchle N, Hilger N, Metzis V, Hiersche M, Tay SY, Tunningley R, Vij S, Courtney AD, Whittle B, Wühl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D, Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C, Bergmann C. Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nat Genet. 2017 Jul;49(7):1025-1034. doi: 10.1038/ng.3871. Epub 2017 May 22. PubMed PMID: 28530676; |
| Ebner K, Dafinger C, Ortiz-Bruechle N, Koerber F, Schermer B, Benzing T, Dötsch J, Zerres K, Weber LT, Beck BB, Liebau MC. Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations. Pediatr Nephrol. 2017 Jul;32(7):1269-1273. doi: 10.1007/s00467-017-3648-x. |
| Peter Janssens, Caroline Weydert, Stephanie De Rechter, Karl Martin Wissing, Max C. Liebau, Djalila Mekahli; Expanding the role of vasopressin antagonism in polycystic kidney diseases: from adult to children? . Pediatric Nephrology 2017 Mar;33(3):395-40 |
| Ebner K, Reintjes N, Feldkötter M, Körber F, Nagel M, Dötsch J, Hoppe B, Weber LT, Beck BB, Liebau MC. A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome . Clin Nephrol. 2017 May 15. doi: 10.5414/CN109123. |
| 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. YAP-mediated mechanotransduction determines the podocyte’s response to damage. Sci Signal. 2017 Apr 11;10(474). pii: eaaf8165. doi: 0.1126/scisignal.aaf8165. PubMed PMID: 28400537 |
| Janssens P, Weydert C, De Rechter S, Wissing KM, Liebau MC, Mekahli D. Expanding the role of vasopressin antagonism in polycystic kidney diseases: From adults to children? Pediatr Nephrol. 2017 Apr 28. doi: 10.1007/s00467-017-3672-x. [Epub ahead of print] PubMed PMID: 28455745. |
| Ebner K, Schaefer F, Liebau MC; ARegPKD Consortium. Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease. Front Pediatr. 2017 Feb 16;5:18. doi: 10.3389/fped.2017.00018. |
| Liebau MC; Kidney Week 2016: Neues zu Zystennieren; Der Nephrologe 01/2017 |
2016
| K. Ebner1, K. Zerres2 und M.C. Liebau1;Aktuelle Forschung auf dem Gebiet der seltenen Nierenerkrankungen am Beispiel der Autosomal Rezessiven Polyzystischen Nierenerkrankung (ARPKD); Nieren- und Hochdruckkrankheiten, Jahrgang 45, Nr. 11/2016, S. 425-431 |
| Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O. MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. Eur J Med Genet 59(8):386-91, 2016. |
| Buchkapitel:
Polycystic Kidney Disease: ADPKD and ARPKD Chapter January 2016 DOI: 10.1007/978-3-662-52972-0_12 In book: Pediatric Kidney Disease, pp.333-367 (Schaefer, Geary) |