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Carsten Bergmann
Researcher at University of Freiburg
Publications - 216
Citations - 11135
Carsten Bergmann is an academic researcher from University of Freiburg. The author has contributed to research in topics: Autosomal Recessive Polycystic Kidney Disease & Autosomal dominant polycystic kidney disease. The author has an hindex of 51, co-authored 197 publications receiving 9381 citations. Previous affiliations of Carsten Bergmann include RWTH Aachen University & University Medical Center Freiburg.
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Journal ArticleDOI
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats
Luiz F. Onuchic,Laszlo Furu,Yasuyuki Nagasawa,Xiaoying Hou,Thomas Eggermann,Zhiyong Ren,Carsten Bergmann,Jan Senderek,Ernie L. Esquivel,Raoul Zeltner,Sabine Rudnik-Schöneborn,Michael Mrug,William E. Sweeney,Ellis D. Avner,Klaus Zerres,Lisa M. Guay-Woodford,Stefan Somlo,Gregory G. Germino +17 more
TL;DR: This paper identified PKHD1, the gene mutated in Autosomal recessive polycystic kidney disease (ARPKD), which is characterized by enlarged kidneys and congenital hepatic fibrosis.
Journal ArticleDOI
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
Gillian I. Rice,Teresa Patrick,Rekha Parmar,Claire F Taylor,Alec Aeby,Jean Aicardi,Rafael Artuch,Simon Attard Montalto,Carlos A. Bacino,Bruno Barroso,Peter Baxter,Willam S Benko,Carsten Bergmann,Enrico Bertini,Roberta Biancheri,Edward Blair,Nenad Blau,David T. Bonthron,Tracy A Briggs,Louise Brueton,Han G. Brunner,Christopher J. Burke,Ian M. Carr,Daniel R. Carvalho,Kate Chandler,Hans-Jurgen Christen,Peter Corry,Frances M. Cowan,Helen Cox,Stefano D'Arrigo,John Dean,Corinne De Laet,Claudine De Praeter,Catherine Dery,Colin D. Ferrie,Kim Flintoff,Suzanna G.M. Frints,Angels García-Cazorla,Blanca Gener,Cyril Goizet,Francoise Goutieres,Andrew Green,Agnes Guet,Ben C.J. Hamel,Bruce E. Hayward,Arvid Heiberg,Raoul C.M. Hennekam,Marie Husson,Andrew P. Jackson,Rasieka Jayatunga,Yong-hui Jiang,Sarina G. Kant,Amy Kao,Mary D. King,Helen Kingston,Joerg Klepper,Marjo S. van der Knaap,Andrew J. Kornberg,Dieter Kotzot,Wilfried Kratzer,Didier Lacombe,Lieven Lagae,Pierre Landrieu,Giovanni Lanzi,Andrea Leitch,Ming K. Lim,John H. Livingston,Charles Marques Lourenço,E G Hermione Lyall,Sally Ann Lynch,Michael J. Lyons,Daphna Marom,John P McClure,Robert McWilliam,Serge B. Melançon,Leena D Mewasingh,Marie-Laure Moutard,Ken K. Nischal,John R. Østergaard,Julie S. Prendiville,Magnhild Rasmussen,R. Curtis Rogers,Dominique Roland,Elisabeth Rosser,Kevin Rostasy,Agathe Roubertie,Amparo Sanchis,Raphael Schiffmann,Sabine Scholl-Bürgi,Sunita Seal,Stavit A. Shalev,C Sierra Corcoles,Gyan P Sinha,Doriette Soler,Ronen Spiegel,John B.P. Stephenson,Uta Tacke,Tiong Yang Tan,Marianne Till,John Tolmie,Pam Tomlin,Federica Vagnarelli,Enza Maria Valente,Rudy Van Coster,Nathalie Van der Aa,Adeline Vanderver,Johannes S H Vles,Thomas Voit,Evangeline Wassmer,Bernhard Weschke,Margo L. Whiteford,Michèl A.A.P. Willemsen,Andreas Zankl,Sameer M. Zuberi,Simona Orcesi,Elisa Fazzi,Pierre Lebon,Yanick J. Crow +117 more
TL;DR: The analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder, and indicates that at least one further AGS-causing gene remains to be identified.
Journal ArticleDOI
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Erica E. Davis,Qi Zhang,Qin Liu,Bill H. Diplas,Lisa Davey,Jane Hartley,Corinne Stoetzel,Katarzyna Szymanska,Gokul Ramaswami,Clare V. Logan,Donna M. Muzny,Alice C. Young,David A. Wheeler,Pedro Cruz,Margaret Morgan,Lora Lewis,Praveen F. Cherukuri,Baishali Maskeri,Nancy F. Hansen,James C. Mullikin,Robert W. Blakesley,Gerard G. Bouffard,Gabor Gyapay,Susanne Rieger,Burkhard Tönshoff,Ilse Kern,Neveen A. Soliman,Thomas J. Neuhaus,Kathryn J. Swoboda,Hülya Kayserili,Tomas E. Gallagher,Richard A. Lewis,Carsten Bergmann,Edgar A. Otto,Sophie Saunier,Peter J. Scambler,Philip L. Beales,Joseph G. Gleeson,Eamonn R. Maher,Tania Attié-Bitach,Hélène Dollfus,Colin A. Johnson,Eric D. Green,Richard A. Gibbs,Friedhelm Hildebrandt,Eric A. Pierce,Nicholas Katsanis,Nicholas Katsanis +47 more
TL;DR: It is shown that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy.
Journal ArticleDOI
Polycystic kidney disease.
Carsten Bergmann,Lisa M. Guay-Woodford,Peter C. Harris,Shigeo Horie,Dorien J.M. Peters,Vicente E. Torres +5 more
TL;DR: An overview of the current knowledge of PKD and its treatment can be found in this paper, where the authors provide an overview of existing knowledge about the pathogenesis and treatment of polycystic kidney disease.
Journal ArticleDOI
Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
Jutta Becker,Oliver Semler,Christian Gilissen,Yun Li,Hanno J. Bolz,Cecilia Giunta,Carsten Bergmann,Marianne Rohrbach,Friederike Koerber,Katharina Zimmermann,Petra de Vries,Brunhilde Wirth,Eckhard Schoenau,Bernd Wollnik,Joris A. Veltman,Alexander Hoischen,Christian Netzer +16 more
TL;DR: Next-generation sequencing is applied to analyze the exome of a single individual who has a severe form of OI and whose parents are second cousins to provide genetic evidence for PEDF involvement in human bone homeostasis.