Biallelic mutations of the methionyl-tRNA synthetase (MARS) cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island
Hadchouel, Alice, Wieland, Thomas, Griese, Matthias, Baruffini, Enrico, Lorenz-Depiereux, Bettina, Enaud, Laurent, Graf, Elisabeth, Dubus, Jean Christophe, Halioui-Louhaichi, Sonia, Coulomb, Aurore, Delacourt, Christophe, Eckstein, Gertrud, Zarbock, Ralf, Schwarzmayr, Thomas, Cartault, François, Meitinger, Thomas, Lodi, Tiziana, de Blic, Jacques, Strom, Tim M.
Published in American journal of human genetics (07.05.2015)
Published in American journal of human genetics (07.05.2015)
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Journal Article
Cadmium Complexed with β2-Microglubulin, Albumin and Lipocalin-2 rather than Metallothionein Cause Megalin:Cubilin Dependent Toxicity of the Renal Proximal Tubule
Fels, Johannes, Scharner, Bettina, Zarbock, Ralf, Zavala Guevara, Itzel Pamela, Lee, Wing-Kee, Barbier, Olivier C, Thévenod, Frank
Published in International journal of molecular sciences (14.05.2019)
Published in International journal of molecular sciences (14.05.2019)
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Journal Article
Surfactant lipidomics in healthy children and childhood interstitial lung disease
Griese, Matthias, Kirmeier, Hannah G, Liebisch, Gerhard, Rauch, Daniela, Stückler, Ferdinand, Schmitz, Gerd, Zarbock, Ralf
Published in PloS one (18.02.2015)
Published in PloS one (18.02.2015)
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Journal Article
Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3
Wittmann, Thomas, Frixel, Sabrina, Höppner, Stefanie, Schindlbeck, Ulrike, Schams, Andrea, Kappler, Matthias, Hegermann, Jan, Wrede, Christoph, Liebisch, Gerhard, Vierzig, Anne, Zacharasiewicz, Angela, Kopp, Matthias Volkmar, Poets, Christian F, Baden, Winfried, Hartl, Dominik, van Kaam, Anton H, Lohse, Peter, Aslanidis, Charalampos, Zarbock, Ralf, Griese, Matthias
Published in Molecular medicine (Cambridge, Mass.) (01.01.2016)
Published in Molecular medicine (Cambridge, Mass.) (01.01.2016)
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Journal Article
Gene expression profiling of ABC transporters in dermal fibroblasts of pseudoxanthoma elasticum patients identifies new candidates involved in PXE pathogenesis
HENDIG, Doris, LANGMANN, Thomas, KOCKEN, Sarah, ZARBOCK, Ralf, SZLISKA, Christiane, SCHMITZ, Gerd, KLEESIEK, Knut, GÖTTING, Christian
Published in Laboratory investigation (01.12.2008)
Published in Laboratory investigation (01.12.2008)
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Journal Article
Characterization of the ATP-binding cassette transporter gene expression profile in Y79: a retinoblastoma cell line
Hendig, Doris, Langmann, Thomas, Zarbock, Ralf, Schmitz, Gerd, Kleesiek, Knut, Götting, Christian
Published in Molecular and cellular biochemistry (01.08.2009)
Published in Molecular and cellular biochemistry (01.08.2009)
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Journal Article
Elevated circulating levels of matrix metalloproteinases MMP-2 and MMP-9 in pseudoxanthoma elasticum patients
Diekmann, Ulf, Zarbock, Ralf, Hendig, Doris, Szliska, Christiane, Kleesiek, Knut, Götting, Christian
Published in Journal of molecular medicine (Berlin, Germany) (01.10.2009)
Published in Journal of molecular medicine (Berlin, Germany) (01.10.2009)
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Journal Article
The surfactant protein C mutation A116D alters cellular processing, stress tolerance, surfactant lipid composition, and immune cell activation
Zarbock, Ralf, Woischnik, Markus, Sparr, Christiane, Thurm, Tobias, Kern, Sunčana, Kaltenborn, Eva, Hector, Andreas, Hartl, Dominik, Liebisch, Gerhard, Schmitz, Gerd, Griese, Matthias
Published in BMC pulmonary medicine (29.03.2012)
Published in BMC pulmonary medicine (29.03.2012)
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Journal Article
Lung disease caused by ABCA3 mutations
Kröner, Carolin, Wittmann, Thomas, Reu, Simone, Teusch, Veronika, Klemme, Mathias, Rauch, Daniela, Hengst, Meike, Kappler, Matthias, Cobanoglu, Nazan, Sismanlar, Tugba, Aslan, Ayse T, Campo, Ilaria, Proesmans, Marijke, Schaible, Thomas, Terheggen-Lagro, Susanne, Regamey, Nicolas, Eber, Ernst, Seidenberg, Jürgen, Schwerk, Nicolaus, Aslanidis, Charalampos, Lohse, Peter, Brasch, Frank, Zarbock, Ralf, Griese, Matthias
Published in Thorax (01.03.2017)
Published in Thorax (01.03.2017)
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Journal Article
A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant
Campo, Ilaria, Zorzetto, Michele, Mariani, Francesca, Kadija, Zamir, Morbini, Patrizia, Dore, Roberto, Kaltenborn, Eva, Frixel, Sabrina, Zarbock, Ralf, Liebisch, Gerhard, Hegermann, Jan, Wrede, Christoph, Griese, Matthias, Luisetti, Maurizio
Published in Respiratory research (15.04.2014)
Published in Respiratory research (15.04.2014)
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Journal Article
Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients
Kröner, Carolin, Reu, Simone, Teusch, Veronika, Schams, Andrea, Grimmelt, Ann-Christin, Barker, Michael, Brand, Joerg, Gappa, Monika, Kitz, Richard, Kramer, Boris W, Lange, Lars, Lau, Susanne, Pfannenstiel, Claus, Proesmans, Marijke, Seidenberg, Jürgen, Sismanlar, Tugba, Aslan, Ayse Tana, Werner, Claudius, Zielen, Stefan, Zarbock, Ralf, Brasch, Frank, Lohse, Peter, Griese, Matthias
Published in The European respiratory journal (01.07.2015)
Published in The European respiratory journal (01.07.2015)
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Journal Article
Quantification of volume and lipid filling of intracellular vesicles carrying the ABCA3 transporter
Höppner, Stefanie, Kinting, Susanna, Torrano, Adriano A., Schindlbeck, Ulrike, Bräuchle, Christoph, Zarbock, Ralf, Wittmann, Thomas, Griese, Matthias
Published in Biochimica et biophysica acta. Molecular cell research (01.12.2017)
Published in Biochimica et biophysica acta. Molecular cell research (01.12.2017)
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Journal Article
Surfactant proteins in pediatric interstitial lung disease
Griese, Matthias, Lorenz, Elke, Hengst, Meike, Schams, Andrea, Wesselak, Traudl, Rauch, Daniela, Wittmann, Thomas, Kirchberger, Valerie, Escribano, Amparo, Schaible, Thomas, Baden, Winfried, Schulze, Johannes, Krude, Heiko, Aslanidis, Charalampos, Schwerk, Nicolaus, Kappler, Matthias, Hartl, Dominik, Lohse, Peter, Zarbock, Ralf
Published in Pediatric research (01.01.2016)
Published in Pediatric research (01.01.2016)
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Journal Article
Tools to explore ABCA3 mutations causing interstitial lung disease
Wittmann, Thomas, Schindlbeck, Ulrike, Höppner, Stefanie, Kinting, Susanna, Frixel, Sabrina, Kröner, Carolin, Liebisch, Gerhard, Hegermann, Jan, Aslanidis, Charalampos, Brasch, Frank, Reu, Simone, Lasch, Peter, Zarbock, Ralf, Griese, Matthias
Published in Pediatric pulmonology (01.12.2016)
Published in Pediatric pulmonology (01.12.2016)
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Journal Article
GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders
Griese, Matthias, Zarbock, Ralf, Costabel, Ulrich, Hildebrandt, Jenna, Theegarten, Dirk, Albert, Michael, Thiel, Antonia, Schams, Andrea, Lange, Joanna, Krenke, Katazyrna, Wesselak, Traudl, Schön, Carola, Kappler, Matthias, Blum, Helmut, Krebs, Stefan, Jung, Andreas, Kröner, Carolin, Klein, Christoph, Campo, Ilaria, Luisetti, Maurizio, Bonella, Francesco
Published in BMC pulmonary medicine (12.08.2015)
Published in BMC pulmonary medicine (12.08.2015)
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