2020
| Dahmer-Heath M, Schriever V, Kollmann S, Schleithoff C, Titieni A, Cetiner M, Patzer L, Tönshoff B, Hansen M, Pennekamp P, Gerß J, Konrad M,König J. Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies. J Med Genet. 2020 Sep 11: jmedgenet-2020-107192. doi: 10.1136/jmedgenet-2020-107192. |
| AkarkachA, Burgmaier K, Sander A, Hooman N, Sever L, CanoF, Zambrano P, Bilge I, Flynn JT, Yavascan O, Vallés PG, Munarriz RL, PatelHP, Serdaroglu E, Koch VH, del Carmen Suarez A, Galanti M, Gonzalez Celedon C, Rébori A, KariJA, Wong CJ, Elenberg E, Rojas LF, Warady BA, Liebau MC*, Schaefer F* for the IPPN registry *geteilte Letztautorenschaft; „Chronic peritoneal dialysis in children with autosomal recessive polycystic kidney disease”, American Journal of Kidney Disease, 2020 Jan 23. pii: S0272-6386(19)31123-0. doi: 10.1053/j.ajkd.2019.10.009. [Epub ahead of print] |
| Soetje, B., Fuellekrug, J., Haffner, D., Ziegler W.H. Application and Comparison of Supervised Learning Strategies to Classify Polarity of Epithelial Cell Spheroids in 3D Culture Front. Genet. (2020), 11: 248; doi = 10.3389/fgene.2020.00248 |
| Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M. Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function. J Clin Invest 130(1):335-344, 2020. |
| Gimpel C, Bergmann C, Brinkert F, Cetiner M, Gembruch U, Haffner D, Kemper M, König J, Liebau M, Maier RF, Oh J, Pape L, Riechardt S, Rolle U, Rossi R, Stegmann J, Vester U, Kaisenberg CV, Weber S, Schaefer F. Nierenzysten und zystische Nierenerkrankungen bei Kindern (AWMF S2k-Leitlinie) / Kidney cysts and cystic nephropathies in children – a consensus guideline by 10 German medical societies“ Klin Padiatr. 2020 Jul 13. |
| Burgmaier K, Ariceta G, Bald M, Buescher AK, Burgmaier M, Erger F, Gessner M, Gokce I, König J, Kowalewska C, Massella L, Mastrangelo A, Mekahli D, Pape L, Patzer L, Potemkina A, Schalk G, Schild R, Shroff R, Szczepanska M, Taranta-Janusz K, Tkaczyk M, Weber LT, Wühl E, Wurm D, Wygoda S, Zagozdzon I, Dötsch J, Oh J, Schaefer F, Liebau MC; ARegPKD consortium. Severe neurological outcomes after very early bilateral nephrectomies in patients with ARPKD. Sci Rep. 2020 Sep 29;10(1):16025 |
2019
| Gimpel C, Avni EF, Breysem L, Burgmaier K, Caroli A, Cetiner M, Haffner D, Hartung EA, Franke D, König J, Liebau MC, Mekahli D, Ong ACM, Pape L, Titieni A, Torra R, Winyard PJD, Schaefer F. Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement. Radiology. 2019 Mar;290(3):769-782. |
| Ricci P, Magalhães P, Krochmal M, Pejchinovski M, Daina E, Caruso MR, Goea L, Belczacka I, Remuzzi G, Umbhauer M, Drube J, Pape L, Mischak H, Decramer S, Schaefer F, Schanstra JP, Cereghini S, Zürbig P. Urinary proteome signature of Renal Cysts and Diabetes syndrome in children. Sci Rep. 2019 Feb 18;9(1):2225. |
| Liebau MC. „Translationale Forschungsansätze zu Zystennierenerkrankungen im Kindesalter“; Nieren- und Hochdruckkrankheiten 2019; 48 (01): 39-41 |
| J. König, S.Habbig, M.C.Liebau; Management von Ziliopathien im Kindes- und Jugendalter. Der Nephrologe 2019. doi.org/10.1007/s11560-019-0312-4. |
| Okorn C, Goertz A, Vester U, Beck BB, Bergmann C, Habbig S, König J, Konrad M, Müller D, Oh J, Ortiz-Brüchle N, Patzer L, Schild R, Seeman T, Staude H, Thumfart J, Tönshoff B, Walden U, Weber L, Zaniew M, Zappel H, Hoyer PF, Weber S. HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry. Pediatr Nephrol. 2019 Jun;34(6):1065-1075. |
| Burgmaier K, Kilian S, Bammens B, Benzing T, Billing H, Büscher A, Galiano M, Grundmann F, Klaus G, Mekahli D, Michel-Calemard L, Milosevski-Lomic G, Ranchin B, Sauerstein K, Schaefer S, Shroff R, Sterenborg R, Verbeeck S, Weber LT, Wicher D, Wühl E, Dötsch J, Schaefer F, Liebau MC. Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD). Sci Rep. 2019 May 28;9(1):7919. |
| De Rechter S, Bockenhauer D, Guay-Woodford LM, Liu I, Mallett AJ, Soliman NA, Sylvestre LC, Schaefer F, Liebau MC, Mekahli D; ADPedKD Consortium. ADPedKD: A Global Online Platform on the Management of Children With ADPKD. Kidney Int Rep. 2019 May 29;4(9):1271-1284. |
| Kampf LL, Schneider R, Gerstner L, Thünauer R, Chen M, Helmstädter M, Amar A, Onuchic-Whitford AC, Loza Munarriz R, Berdeli A, Müller D, Schrezenmeier E, Budde K, Mane S, Laricchia KM, Rehm HL, MacArthur DG, Lifton RP, Walz G, Römer W, Bergmann C, Hildebrandt F, Hermle T. TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome. J Am Soc Nephrol. 2019 Dec;30(12):2338-2353. |
| Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai M, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris P, König J, Liebau M, Marlais M, Mekahli D, Metcalfe A, Oh J, Perrone R, Sinha M, Titieni A, Torra R, Weber S, Winyard P, Schaefer F. International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nature Rev Nephrol 15(11):713-726, 2019. |
| Schrezenmeier E, Budde K, Bergmann C. Diagnostic yield of NGS-based panel testing among waitlisted patients. N Engl J Med 2019 May 23;380(21):2078. |
| Ottlewski I, Münch J, Wagner T, Schönauer R, Bachmann A, Weimann A, Hentschel J, Lindner TH, Seehofer D, Bergmann C, Jamra RA, Halbritter J. Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease. Kidney Int 96(1):222-230, 2019. |
| Bergmann C. Early and Severe Polycystic Kidney Disease and Related Ciliopathies: An Emerging Field of Interest. Nephron. 2019;141(1):50-60. |
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) |