Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses

by Carsten Bergmann, Carsten Bergmann
Published 2018-02-01

Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation

by Friederike Petzold, Anette Bachmann, Carsten Bergmann, Udo Helmchen, Jan Halbritter
Published 2019-09-01

Kif21a deficiency leads to impaired glomerular filtration barrier function

by Hanna Riedmann, Séverine Kayser, Martin Helmstädter, Daniel Epting, Carsten Bergmann
Published 2023-11-01

Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome

by Ria Schönauer, Anna Seidel, Maik Grohmann, Tom H. Lindner, Carsten Bergmann, Jan Halbritter
Published 2019-05-01

Nephrolithiasis Associated with Nephrocalcinosis Is Primarily Composed of Carbonate Apatite

by Teresa Antonia Kiener, Elena Moré, Michael Franzen, Janne Cadamuro, Christoph Schwarz, Carsten Bergmann, Hermann Salmhofer
Published 2024-03-01

Treating C3 glomerulopathy with eculizumab

by Thomas Welte, Frederic Arnold, Julia Kappes, Maximilian Seidl, Karsten Häffner, Carsten Bergmann, Gerd Walz, Elke Neumann-Haefelin
Published 2018-01-01

Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic <i>DNAJC3</i> Variants

by Alena Welters, Oliver Nortmann, Laura Wörmeyer, Clemens Freiberg, Daniel Eberhard, Nadine Bachmann, Carsten Bergmann, Ertan Mayatepek, Thomas Meissner, Sebastian Kummer
Published 2024-01-01

Hyperinsulinemic Hypoglycemia Associated with a Ca_V1.2 Variant with Mixed Gain- and Loss-of-Function Effects

by Sebastian Kummer, Susanne Rinné, Gunnar Seemann, Nadine Bachmann, Katherine Timothy, Paul S. Thornton, Frank Pillekamp, Ertan Mayatepek, Carsten Bergmann, Thomas Meissner, Niels Decher
Published 2022-07-01

A novel role for the chloride intracellular channel protein Clic5 in ciliary function

by Elisabeth Ott, Sylvia Hoff, Lara Indorf, Franck Anicet Ditengou, Julius Müller, Gina Renschler, Soeren S. Lienkamp, Albrecht Kramer-Zucker, Carsten Bergmann, Daniel Epting
Published 2023-10-01

Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis

by Dana Sierks, Ria Schönauer, Anja Friedrich, Elena Hantmann, Jonathan de Fallois, Nikolas Linder, Janett Fischer, Adam Herber, Carsten Bergmann, Thomas Berg, Jan Halbritter
Published 2022-11-01

Genetic characteristics of the human hepatic stellate cell line LX-2.

by Ralf Weiskirchen, Jörg Weimer, Steffen K Meurer, Anja Kron, Barbara Seipel, Inga Vater, Norbert Arnold, Reiner Siebert, Lieming Xu, Scott L Friedman, Carsten Bergmann
Published 2013-01-01

An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia

by Alena Welters, Sarah M Leiter, Nadine Bachmann, Carsten Bergmann, Henrike Hoermann, Eckhard Korsch, Thomas Meissner, Felicity Payne, Rachel Williams, Khalid Hussain, Robert K. Semple, Sebastian Kummer
Published 2023-11-01

Clinicians' attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease.

by Stéphanie De Rechter, Jonathan Kringen, Peter Janssens, Max Christoph Liebau, Koenraad Devriendt, Elena Levtchenko, Carsten Bergmann, François Jouret, Bert Bammens, Pascal Borry, Franz Schaefer, Djalila Mekahli
Published 2017-01-01

Molecular based newborn screening in Germany: Follow-up for cystinosis

by Katharina Hohenfellner, Carsten Bergmann, Tobias Fleige, Nils Janzen, Siegfried Burggraf, Bernd Olgemöller, William A. Gahl, Ludwig Czibere, Sonja Froschauer, Wulf Röschinger, Katharina Vill, Erik Harms, Uta Nennstiel
Published 2019-12-01

An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

by Tobias Eisenberger, Christian Decker, Milan Hiersche, Ruben C Hamann, Eva Decker, Steffen Neuber, Valeska Frank, Hanno J Bolz, Henry Fehrenbach, Lars Pape, Burkhard Toenshoff, Christoph Mache, Kay Latta, Carsten Bergmann
Published 2015-01-01

Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases

by Wolfgang H. Ziegler, Sarah Lüdiger, Fatima Hassan, Margarita E. Georgiadis, Kathrin Swolana, Amrit Khera, Arne Mertens, Doris Franke, Kai Wohlgemuth, Mareike Dahmer-Heath, Jens König, Claudia Dafinger, Max C. Liebau, Metin Cetiner, Carsten Bergmann, Birga Soetje, Dieter Haffner
Published 2022-03-01

Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy

by Hande Aypek, Christoph Krisp, Shun Lu, Shuya Liu, Dominik Kylies, Oliver Kretz, Guochao Wu, Manuela Moritz, Kerstin Amann, Kerstin Benz, Ping Tong, Zheng-mao Hu, Sulaiman M. Alsulaiman, Arif O. Khan, Maik Grohmann, Timo Wagner, Janina Müller-Deile, Hartmut Schlüter, Victor G. Puelles, Carsten Bergmann, Tobias B. Huber, Florian Grahammer
Published 2022-05-01

A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes

by Markus M. Rinschen, Markus Gödel, Florian Grahammer, Stefan Zschiedrich, Martin Helmstädter, Oliver Kretz, Mostafa Zarei, Daniela A. Braun, Sebastian Dittrich, Caroline Pahmeyer, Patricia Schroder, Carolin Teetzen, HeonYung Gee, Ghaleb Daouk, Martin Pohl, Elisa Kuhn, Bernhard Schermer, Victoria Küttner, Melanie Boerries, Hauke Busch, Mario Schiffer, Carsten Bergmann, Marcus Krüger, Friedhelm Hildebrandt, Joern Dengjel, Thomas Benzing, Tobias B. Huber
Published 2018-05-01

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

by Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Christoph Friedburg, Anika Bieg, Martin Gliem, Peter Charbel Issa, Frank G Holz, Shahid M Baig, Yorck Hellenbroich, Alberto Galvez, Konrad Platzer, Bernd Wollnik, Nadja Laddach, Saeed Reza Ghaffari, Maryam Rafati, Elke Botzenhart, Sigrid Tinschert, Doris Börger, Axel Bohring, Julia Schreml, Stefani Körtge-Jung, Chayim Schell-Apacik, Khadijah Bakur, Jumana Y Al-Aama, Teresa Neuhann, Peter Herkenrath, Gudrun Nürnberg, Peter Nürnberg, John S Davis, Andreas Gal, Carsten Bergmann, Birgit Lorenz, Hanno J Bolz
Published 2013-01-01

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

by Mathilda Bedin, Olivia Boyer, Aude Servais, Yong Li, Laure Villoing-Gaudé, Marie-Josephe Tête, Alexandra Cambier, Julien Hogan, Veronique Baudouin, Saoussen Krid, Albert Bensman, Florie Lammens, Ferielle Louillet, Bruno Ranchin, Cecile Vigneau, Iseline Bouteau, Corinne Isnard-Bagnis, Christoph J. Mache, Tobias Schäfer, Lars Pape, Markus Gödel, Tobias B. Huber, Marcus Benz, Günter Klaus, Matthias Hansen, Kay Latta, Olivier Gribouval, Vincent Morinière, Carole Tournant, Maik Grohmann, Elisa Kuhn, Timo Wagner, Christine Bole-Feysot, Fabienne Jabot-Hanin, Patrick Nitschké, Tarunveer S. Ahluwalia, Anna Köttgen, Christian Brix Folsted Andersen, Carsten Bergmann, Corinne Antignac, Matias Simons
Published 2022-06-01