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13 results on '"Plaßmann, Dominik"'

1. Dissecting the genetic heterogeneity of gastric cancer

Author

Hess, Timo, Maj, Carlo, Gehlen, Jan, Borisov, Oleg, Haas, Stephan L., Gockel, Ines, Vieth, Michael, Piessen, Guillaume, Alakus, Hakan, Vashist, Yogesh, Pereira, Carina, Knapp, Michael, Schüller, Vitalia, Quaas, Alexander, Grabsch, Heike I., Trautmann, Jessica, Malecka-Wojciesko, Ewa, Mokrowiecka, Anna, Speller, Jan, Mayr, Andreas, Schröder, Julia, Hillmer, Axel M., Heider, Dominik, Lordick, Florian, Pérez-Aísa, Ángeles, Campo, Rafael, Espinel, Jesús, Geijo, Fernando, Thomson, Concha, Bujanda, Luis, Sopeña, Federico, Lanas, Ángel, Pellisé, María, Pauligk, Claudia, Goetze, Thorsten Oliver, Zelck, Carolin, Reingruber, Julian, Hassanin, Emadeldin, Elbe, Peter, Alsabeah, Sandra, Lindblad, Mats, Nilsson, Magnus, Kreuser, Nicole, Thieme, René, Tavano, Francesca, Pastorino, Roberta, Arzani, Dario, Persiani, Roberto, Jung, Jin-On, Nienhüser, Henrik, Ott, Katja, Schumann, Ralf R., Kumpf, Oliver, Burock, Susen, Arndt, Volker, Jakubowska, Anna, Ławniczak, Małgorzta, Moreno, Victor, Martín, Vicente, Kogevinas, Manolis, Pollán, Marina, Dąbrowska, Justyna, Salas, Antonio, Cussenot, Olivier, Boland-Auge, Anne, Daian, Delphine, Deleuze, Jean-Francois, Salvi, Erika, Teder-Laving, Maris, Tomasello, Gianluca, Ratti, Margherita, Senti, Chiara, De Re, Valli, Steffan, Agostino, Hölscher, Arnulf H., Messerle, Katharina, Bruns, Christiane Josephine, Sīviņš, Armands, Bogdanova, Inga, Skieceviciene, Jurgita, Arstikyte, Justina, Moehler, Markus, Lang, Hauke, Grimminger, Peter P., Kruschewski, Martin, Vassos, Nikolaos, Schildberg, Claus, Lingohr, Philipp, Ridwelski, Karsten, Lippert, Hans, Fricker, Nadine, Krawitz, Peter, Hoffmann, Per, Nöthen, Markus M., Veits, Lothar, Izbicki, Jakob R., Mostowska, Adrianna, Martinón-Torres, Federico, Cusi, Daniele, Adolfsson, Rolf, Cancel-Tassin, Geraldine, Höblinger, Aksana, Rodermann, Ernst, Ludwig, Monika, Keller, Gisela, Metspalu, Andres, Brenner, Hermann, Heller, Joerg, Neef, Markus, Schepke, Michael, Dumoulin, Franz Ludwig, Hamann, Lutz, Cannizzaro, Renato, Ghidini, Michele, Plaßmann, Dominik, Geppert, Michael, Malfertheiner, Peter, Gehlen, Olivier, Skoczylas, Tomasz, Majewski, Marek, Lubiński, Jan, Palmieri, Orazio, Boccia, Stefania, Latiano, Anna, Aragones, Nuria, Schmidt, Thomas, Dinis-Ribeiro, Mário, Medeiros, Rui, Al-Batran, Salah-Eddin, Leja, Mārcis, Kupcinskas, Juozas, García-González, María A., Venerito, Marino, and Schumacher, Johannes

Published
2023
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2. The genetic regulation of the gastric transcriptome is associated with metabolic and obesity-related traits and diseases.

Author

Koebbe, Laura L., Hess, Timo, Giel, Ann-Sophie, Bigge, Jessica, Gehlen, Jan, Schueller, Vitalia, Geppert, Michael, Dumoulin, Franz Ludwig, Heller, Joerg, Schepke, Michael, Plaßmann, Dominik, Vieth, Michael, Venerito, Marino, Schumacher, Johannes, and Maj, Carlo

Subjects
GENETIC regulation, GENE expression, LOCUS (Genetics), BODY composition, TRANSCRIPTOMES, PLANT protection
Abstract

Tissue-specific gene expression and gene regulation lead to a better understanding of tissue-specific physiology and pathophysiology. We analyzed the transcriptome and genetic regulatory profiles of two distinct gastric sites, corpus and antrum, to identify tissue-specific gene expression and its regulation. Gastric corpus and antrum mucosa biopsies were collected during routine gastroscopies from up to 431 healthy individuals. We obtained genotype and transcriptome data and performed transcriptome profiling and expression quantitative trait locus (eQTL) studies. We further used data from genome-wide association studies (GWAS) of various diseases and traits to partition their heritability and to perform transcriptome-wide association studies (TWAS). The transcriptome data from corpus and antral mucosa highlights the heterogeneity of gene expression in the stomach. We identified enriched pathways revealing distinct and common physiological processes in gastric corpus and antrum. Furthermore, we found an enrichment of the single nucleotide polymorphism (SNP)-based heritability of metabolic, obesity-related, and cardiovascular traits and diseases by considering corpus- and antrum-specifically expressed genes. Particularly, we could prioritize gastric-specific candidate genes for multiple metabolic traits, like NQO1 which is involved in glucose metabolism, MUC1 which contributes to purine and protein metabolism or RAB27B being a regulator of weight and body composition. Our findings show that gastric corpus and antrum vary in their transcriptome and genetic regulatory profiles indicating physiological differences which are mostly related to digestion and epithelial protection. Moreover, our findings demonstrate that the genetic regulation of the gastric transcriptome is linked to biological mechanisms associated with metabolic, obesity-related, and cardiovascular traits and diseases. [ABSTRACT FROM AUTHOR]

Published
2024
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5. Corrigendum to “Dissecting the genetic heterogeneity of gastric cancer”

Author

Hess, Timo, primary, Maj, Carlo, additional, Gehlen, Jan, additional, Borisov, Oleg, additional, Haas, Stephan L., additional, Gockel, Ines, additional, Vieth, Michael, additional, Piessen, Guillaume, additional, Alakus, Hakan, additional, Vashist, Yogesh, additional, Pereira, Carina, additional, Knapp, Michael, additional, Schüller, Vitalia, additional, Quaas, Alexander, additional, Grabsch, Heike I., additional, Trautmann, Jessica, additional, Malecka-Wojciesko, Ewa, additional, Mokrowiecka, Anna, additional, Speller, Jan, additional, Mayr, Andreas, additional, Schröder, Julia, additional, Hillmer, Axel M., additional, Heider, Dominik, additional, Lordick, Florian, additional, Pérez-Aísa, Ángeles, additional, Campo, Rafael, additional, Espinel, Jesús, additional, Geijo, Fernando, additional, Thomson, Concha, additional, Bujanda, Luis, additional, Sopeña, Federico, additional, Lanas, Ángel, additional, Pellisé, María, additional, Pauligk, Claudia, additional, Goetze, Thorsten Oliver, additional, Zelck, Carolin, additional, Reingruber, Julian, additional, Hassanin, Emadeldin, additional, Elbe, Peter, additional, Alsabeah, Sandra, additional, Lindblad, Mats, additional, Nilsson, Magnus, additional, Kreuser, Nicole, additional, Thieme, René, additional, Tavano, Francesca, additional, Pastorino, Roberta, additional, Arzani, Dario, additional, Persiani, Roberto, additional, Jung, Jin-On, additional, Nienhüser, Henrik, additional, Ott, Katja, additional, Schumann, Ralf R., additional, Kumpf, Oliver, additional, Burock, Susen, additional, Arndt, Volker, additional, Jakubowska, Anna, additional, Ławniczak, Małgorzta, additional, Moreno, Victor, additional, Martín, Vicente, additional, Kogevinas, Manolis, additional, Pollán, Marina, additional, Dąbrowska, Justyna, additional, Salas, Antonio, additional, Cussenot, Olivier, additional, Boland-Auge, Anne, additional, Daian, Delphine, additional, Deleuze, Jean-Francois, additional, Salvi, Erika, additional, Teder-Laving, Maris, additional, Tomasello, Gianluca, additional, Ratti, Margherita, additional, Senti, Chiara, additional, De Re, Valli, additional, Steffan, Agostino, additional, Hölscher, Arnulf H., additional, Messerle, Katharina, additional, Bruns, Christiane Josephine, additional, Sīviņš, Armands, additional, Bogdanova, Inga, additional, Skieceviciene, Jurgita, additional, Arstikyte, Justina, additional, Moehler, Markus, additional, Lang, Hauke, additional, Grimminger, Peter P., additional, Kruschewski, Martin, additional, Vassos, Nikolaos, additional, Schildberg, Claus, additional, Lingohr, Philipp, additional, Ridwelski, Karsten, additional, Lippert, Hans, additional, Fricker, Nadine, additional, Krawitz, Peter, additional, Hoffmann, Per, additional, Nöthen, Markus M., additional, Veits, Lothar, additional, Izbicki, Jakob R., additional, Mostowska, Adrianna, additional, Martinón-Torres, Federico, additional, Cusi, Daniele, additional, Adolfsson, Rolf, additional, Cancel-Tassin, Geraldine, additional, Höblinger, Aksana, additional, Rodermann, Ernst, additional, Ludwig, Monika, additional, Keller, Gisela, additional, Metspalu, Andres, additional, Brenner, Hermann, additional, Heller, Joerg, additional, Neef, Markus, additional, Schepke, Michael, additional, Dumoulin, Franz Ludwig, additional, Hamann, Lutz, additional, Cannizzaro, Renato, additional, Ghidini, Michele, additional, Plaßmann, Dominik, additional, Geppert, Michael, additional, Malfertheiner, Peter, additional, Glehen, Olivier, additional, Skoczylas, Tomasz, additional, Majewski, Marek, additional, Lubiński, Jan, additional, Palmieri, Orazio, additional, Boccia, Stefania, additional, Latiano, Anna, additional, Aragones, Nuria, additional, Schmidt, Thomas, additional, Dinis-Ribeiro, Mário, additional, Medeiros, Rui, additional, Al-Batran, Salah-Eddin, additional, Leja, Mārcis, additional, Kupcinskas, Juozas, additional, García-González, María A., additional, Venerito, Marino, additional, and Schumacher, Johannes, additional

Published
2023
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8. Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: A case control study

Author

Friedrichs Nicolaus, Plassmann Dominik, Schulte-Witte Hildegard, Becker Ursula, Keppeler Hildegard, Lamberti Christoph, Jungck Matthias, Grünhage Frank, Buettner Reinhard, Aretz Stefan, Sauerbruch Tilman, and Lammert Frank

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background The genetics of sporadic and non-syndromic familial colorectal cancer (CRC) is not well defined. However, genetic factors that promote the development of precursor lesions, i.e. adenomas, might also predispose to CRC. Recently, an association of colorectal adenoma with two variants (c.507C>T;p.L169L and c.511G>T;p.A171S) of the ileal sodium dependent bile acid transporter gene (SLC10A2) has been reported. Here, we reconstructed haplotypes of the SLC10A2 gene locus and tested for association with non-syndromic familial and sporadic CRC compared to 'hyper-normal' controls who displayed no colorectal polyps on screening colonoscopy. Methods We included 150 patients with sporadic CRC, 93 patients with familial CRC but exclusion of familial adenomatous polyposis and Lynch's syndrome, and 204 'hyper-normal' controls. Haplotype-tagging SLC10A2 gene variants were identified in the Hapmap database and genotyped using PCR-based 5' exonuclease assays with fluorescent dye-labelled probes. Haplotypes were reconstructed using the PHASE algorithm. Association testing was performed with both SNPs and reconstructed haplotypes. Results Minor allele frequencies of all SLC10A2 polymorphisms are within previously reported ranges, and no deviations from Hardy-Weinberg equilibrium are observed. However, we found no association with any of the SLC10A2 haplotypes with sporadic or familial CRC in our samples (all P values > 0.05). Conclusion Common variants of the SLC10A2 gene are not associated with sporadic or familial CRC. Hence, albeit this gene might be associated with early stages of colorectal neoplasia, it appears not to represent a major risk factor for progression to CRC.

Published
2008
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9. Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: A case control study

Author

Grünhage, Frank, primary, Jungck, Matthias, additional, Lamberti, Christoph, additional, Keppeler, Hildegard, additional, Becker, Ursula, additional, Schulte-Witte, Hildegard, additional, Plassmann, Dominik, additional, Friedrichs, Nicolaus, additional, Buettner, Reinhard, additional, Aretz, Stefan, additional, Sauerbruch, Tilman, additional, and Lammert, Frank, additional

Published
2008
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10. Contribution of common monoallelic MUTYH gene variants in German patients with familial colorectal cancer

Author

Grünhage, Frank, primary, Jungck, Matthias, additional, Lamberti, Christof, additional, Schulte-Witte, Hildegard, additional, Plassmann, Dominik, additional, Becker, Ursula, additional, Rahner, Nils, additional, Aretz, Stefan, additional, Friedrichs, Nicolaus, additional, Buettner, Reinhard, additional, Sauerbruch, Tilman, additional, and Lammert, Frank, additional

Published
2008
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11. Association of familial colorectal cancer with variants in the E-cadherin (CDH1) and cyclin D1 (CCND1) genes

Author

Grünhage, Frank, primary, Jungck, Matthias, additional, Lamberti, Christoph, additional, Berg, Christine, additional, Becker, Ursula, additional, Schulte-Witte, Hildegard, additional, Plassmann, Dominik, additional, Rahner, Nils, additional, Aretz, Stefan, additional, Friedrichs, Nicolaus, additional, Buettner, Reinhard, additional, Sauerbruch, Tilman, additional, and Lammert, Frank, additional

Published
2007
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13. Marked clinical and histologic improvement in a patient with type-1 Gaucher's disease following long-term glucocerebroside substitution. A case report and review of current diagnosis and management.

Author

Heukamp LC, Schröder DW, Plassmann D, Homann J, and Büttner R

Subjects
Bone Marrow pathology, Female, Gaucher Disease physiopathology, Humans, Middle Aged, Gaucher Disease drug therapy, Gaucher Disease pathology, Glucosylceramidase therapeutic use, Liver pathology
Abstract

Type-1 Gaucher's disease represents the most common lysosomal storage disorder. With the introduction of enzyme replacement therapy, many of the clinical manifestations can be controlled. The functional deficiency of the lysosomal beta-glucocerebrosidase leads to deposition of glycosylceramide in the liver, spleen, and bone marrow. We report the clinical and pathologic presentation of a patient with a florid type-1 Gaucher's disease who received long-term enzyme replacement therapy, which led to marked clinical improvement. A repeat liver biopsy performed at the time of a cholecystectomy several years after initiation of enzyme replacement therapy revealed complete resolution of Gaucher cells.

Published
2003
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