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39 results on '"Mughal, Sadaf"'

1. Metavert synergises with standard cytotoxics in human PDAC organoids and is associated with transcriptomic signatures of therapeutic response

Author

An, Jingyu, Kurilov, Roma, Peccerella, Teresa, Bergmann, Frank, Edderkaoui, Mouad, Lim, Adrian, Zhou, Xu, Pfütze, Katrin, Schulz, Angela, Wolf, Stephan, Hu, Kai, Springfeld, Christoph, Mughal, Sadaf S., Zezlina, Lenart, Fortunato, Franco, Beyer, Georg, Mayerle, Julia, Roth, Susanne, Hulkkonen, Johannes, Merz, Daniela, Ei, Shigenori, Mehrabi, Arianeb, Loos, Martin, Al-Saeedi, Mohammed, Michalski, Christoph W., Büchler, Markus W., Hackert, Thilo, Brors, Benedikt, Pandol, Stephen J., Bailey, Peter, and Neoptolemos, John P.

Published
2024
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3. Metastatic adult pancreatoblastoma: Multimodal treatment and molecular characterization of a very rare disease

Author

Berger, Anne Katrin, Mughal, Sadaf Shabbir, Allgäuer, Michael, Springfeld, Christoph, Hackert, Thilo, Weber, Tim Frederik, Naumann, Patrick, Hutter, Barbara, Horak, Peter, Jahn, Arne, Schröck, Evelin, Haag, Georg Martin, Apostolidis, Leonidas, Jäger, Dirk, Stenzinger, Albrecht, Fröhling, Stefan, Glimm, Hanno, and Heining, Christoph

Published
2020
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4. Direct excitatory synapses between neurons and tumor cells drive brain metastatic seeding of breast cancer and melanoma

Author

Venkataramani, Varun, primary, Karreman, Matthia Andrea, additional, Nguyen, Linh Cathrin, additional, Tehranian, Cedric, additional, Hebach, Nils, additional, Mayer, Chante, additional, Meyer, Lasse, additional, Mughal, Sadaf, additional, Reifenberger, Guido, additional, Felsberg, Joerg, additional, Koehrer, Karl, additional, Schubert, Marc Cicero, additional, Westphal, Dana, additional, Breckwolt, Michael, additional, Brors, Benedikt, additional, Wick, Wolfgang, additional, Kuner, Thomas, additional, and Winkler, Frank, additional

Published
2024
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5. CNSC-02. GLUTAMATERGIC SYNAPTIC INPUT DRIVES BRAIN METASTASIS OF BREAST CANCER AND MELANOMA

Author

Karreman, Matthia, primary, Venkataramani, Varun, additional, Nguyen, Linh C, additional, Hebach, Nils, additional, Tehranian, Cedric, additional, Mayer, Chanté, additional, Meyer, Lasse, additional, Mughal, Sadaf, additional, Geckeler, Lukas, additional, Westphal, Dana, additional, Breckwoldt, Michael, additional, Wick, Wolfgang, additional, Kuner, Thomas, additional, and Winkler, Frank, additional

Published
2023
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7. Genomic diversity within the "Actinomyces naeslundii" group

Author

Mughal, Sadaf Rasheed, Beighton, David, and Radford, David Robert

Subjects
572.8
Abstract

The aim of the study was to determine whether sub-clusters identified within A. oris and A. naeslundii by Multi locus sequence typing (MLST) of the concatenated sequences of 7 housekeeping genes should be classified as subspecies or distinct species. Determination of whole genome sequences of selected strains of A. oris and A. naeslundii, using Illumina Genome Analyzer IIxe and Roche 454 methods was initiated using paired-end sequencing and single reads respectively. The sequences obtained were aligned using CLC software and annotated using RAST. In preliminary gene-by-gene, analysis a putative Lacto-N-Biose [LNB] gene operon was identified which may mediate growth of A. oris on LNB generated in vivo from the degradation of salivary mucins. The operon were found in all A. oris strains (n=19) but in 18 A. naeslundii strains the operon was dysfunctional with extensive, varied gene loss apparent. Mutants of Actinomyces oris-MG1 were produced with the LNB phosphorylase gene inactivated. All A. oris strains grew on LNB (increase in OD= 0.213 + 0.07 and final pH= 4.99) while none of the A. naeslundii strains (increase in OD=0.09 + 0.05 and final pH=6.3; both p<0.01) or the A. oris mutant did not grow significantly in the presence of LNB. This finding indicated that A. oris strains possess a functional LNB operon and so are better able to utilize LNB generated by the degradation of salivary O-linked glycans. This is the first demonstration of LNB utilization by a member of the oral microbiome and may explain the greater prevalence of A. oris compared to A. naeslundii in oral biofilms. Further the Reverse Transcriptase-PCR (RT-PCR) was carried out to demonstrate the up-regulation of LNBP gene when A. oris-MG1 was grown in LNB. Apart from bio-chemical characterization, comparative genomic analysis was carried out on whole genomic sequences. Digital DNA-DNA homology (DDH) values were obtained using in-silico genome-to-genome comparison and this analysis delivered results consistent with previous traditional classification. Evolutionary analysis using ClonalFrame was also observed. The mutation and recombination events were compared using chi-square test among A. oris and A. naeslundii isolates. A. oris mutation and recombination event were significantly higher than A. naeslundii showing the diversity of A. oris strains in the oral cavity. Seven house keeping genes of publically available strains were included in previous MLST analysis and it was investigated that k20, MG1, c505, OT175 clustered in A. oris group of isolates while OT171, OT170 and A. johnsonii appeared as separate branches in MLST analysis and same was observed in core genome phylogenetic tree. These findings suggest that A. oris forms six distinct groups based on Neighbour-Joining tree analysis, core genome alignment and DDH analysis while A. naeslundii forms a single compact cluster.

Published
2014

8. Supplementary Figure S3 from Targeting Fibroblast Growth Factor Receptor 1 for Treatment of Soft-Tissue Sarcoma

Author

Chudasama, Priya, primary, Renner, Marcus, primary, Straub, Melanie, primary, Mughal, Sadaf S., primary, Hutter, Barbara, primary, Kosaloglu, Zeynep, primary, Schweßinger, Ron, primary, Scheffler, Matthias, primary, Alldinger, Ingo, primary, Schimmack, Simon, primary, Persigehl, Thorsten, primary, Kobe, Carsten, primary, Jäger, Dirk, primary, von Kalle, Christof, primary, Schirmacher, Peter, primary, Beckhaus, Marie-Kristin, primary, Wolf, Stephan, primary, Heining, Christoph, primary, Gröschel, Stefan, primary, Wolf, Jürgen, primary, Brors, Benedikt, primary, Weichert, Wilko, primary, Glimm, Hanno, primary, Scholl, Claudia, primary, Mechtersheimer, Gunhild, primary, Specht, Katja, primary, and Fröhling, Stefan, primary

Published
2023
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9. Supplementary Table 3 from Targeting Fibroblast Growth Factor Receptor 1 for Treatment of Soft-Tissue Sarcoma

Author

Chudasama, Priya, primary, Renner, Marcus, primary, Straub, Melanie, primary, Mughal, Sadaf S., primary, Hutter, Barbara, primary, Kosaloglu, Zeynep, primary, Schweßinger, Ron, primary, Scheffler, Matthias, primary, Alldinger, Ingo, primary, Schimmack, Simon, primary, Persigehl, Thorsten, primary, Kobe, Carsten, primary, Jäger, Dirk, primary, von Kalle, Christof, primary, Schirmacher, Peter, primary, Beckhaus, Marie-Kristin, primary, Wolf, Stephan, primary, Heining, Christoph, primary, Gröschel, Stefan, primary, Wolf, Jürgen, primary, Brors, Benedikt, primary, Weichert, Wilko, primary, Glimm, Hanno, primary, Scholl, Claudia, primary, Mechtersheimer, Gunhild, primary, Specht, Katja, primary, and Fröhling, Stefan, primary

Published
2023
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10. Supplementary Table 4 from Targeting Fibroblast Growth Factor Receptor 1 for Treatment of Soft-Tissue Sarcoma

Author

Chudasama, Priya, primary, Renner, Marcus, primary, Straub, Melanie, primary, Mughal, Sadaf S., primary, Hutter, Barbara, primary, Kosaloglu, Zeynep, primary, Schweßinger, Ron, primary, Scheffler, Matthias, primary, Alldinger, Ingo, primary, Schimmack, Simon, primary, Persigehl, Thorsten, primary, Kobe, Carsten, primary, Jäger, Dirk, primary, von Kalle, Christof, primary, Schirmacher, Peter, primary, Beckhaus, Marie-Kristin, primary, Wolf, Stephan, primary, Heining, Christoph, primary, Gröschel, Stefan, primary, Wolf, Jürgen, primary, Brors, Benedikt, primary, Weichert, Wilko, primary, Glimm, Hanno, primary, Scholl, Claudia, primary, Mechtersheimer, Gunhild, primary, Specht, Katja, primary, and Fröhling, Stefan, primary

Published
2023
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11. Supplementary Table 1 from Targeting Fibroblast Growth Factor Receptor 1 for Treatment of Soft-Tissue Sarcoma

Author

Chudasama, Priya, primary, Renner, Marcus, primary, Straub, Melanie, primary, Mughal, Sadaf S., primary, Hutter, Barbara, primary, Kosaloglu, Zeynep, primary, Schweßinger, Ron, primary, Scheffler, Matthias, primary, Alldinger, Ingo, primary, Schimmack, Simon, primary, Persigehl, Thorsten, primary, Kobe, Carsten, primary, Jäger, Dirk, primary, von Kalle, Christof, primary, Schirmacher, Peter, primary, Beckhaus, Marie-Kristin, primary, Wolf, Stephan, primary, Heining, Christoph, primary, Gröschel, Stefan, primary, Wolf, Jürgen, primary, Brors, Benedikt, primary, Weichert, Wilko, primary, Glimm, Hanno, primary, Scholl, Claudia, primary, Mechtersheimer, Gunhild, primary, Specht, Katja, primary, and Fröhling, Stefan, primary

Published
2023
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12. Supplementary Table 2 from Targeting Fibroblast Growth Factor Receptor 1 for Treatment of Soft-Tissue Sarcoma

Author

Chudasama, Priya, primary, Renner, Marcus, primary, Straub, Melanie, primary, Mughal, Sadaf S., primary, Hutter, Barbara, primary, Kosaloglu, Zeynep, primary, Schweßinger, Ron, primary, Scheffler, Matthias, primary, Alldinger, Ingo, primary, Schimmack, Simon, primary, Persigehl, Thorsten, primary, Kobe, Carsten, primary, Jäger, Dirk, primary, von Kalle, Christof, primary, Schirmacher, Peter, primary, Beckhaus, Marie-Kristin, primary, Wolf, Stephan, primary, Heining, Christoph, primary, Gröschel, Stefan, primary, Wolf, Jürgen, primary, Brors, Benedikt, primary, Weichert, Wilko, primary, Glimm, Hanno, primary, Scholl, Claudia, primary, Mechtersheimer, Gunhild, primary, Specht, Katja, primary, and Fröhling, Stefan, primary

Published
2023
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15. Gene expression-based prediction of pazopanib efficacy in sarcoma

Author

Heilig, Christoph E., primary, Laßmann, Andreas, additional, Mughal, Sadaf S., additional, Mock, Andreas, additional, Pirmann, Sebastian, additional, Teleanu, Veronica, additional, Renner, Marcus, additional, Andresen, Carolin, additional, Köhler, Bruno C., additional, Aybey, Bogac, additional, Bauer, Sebastian, additional, Siveke, Jens T., additional, Hamacher, Rainer, additional, Folprecht, Gunnar, additional, Richter, Stephan, additional, Schröck, Evelin, additional, Brandts, Christian H., additional, Ahrens, Marit, additional, Hohenberger, Peter, additional, Egerer, Gerlinde, additional, Kindler, Thomas, additional, Boerries, Melanie, additional, Illert, Anna L., additional, von Bubnoff, Nikolas, additional, Apostolidis, Leonidas, additional, Jost, Philipp J., additional, Westphalen, C. Benedikt, additional, Weichert, Wilko, additional, Keilholz, Ulrich, additional, Klauschen, Frederick, additional, Beck, Katja, additional, Winter, Ulrike, additional, Richter, Daniela, additional, Möhrmann, Lino, additional, Bitzer, Michael, additional, Schulze-Osthoff, Klaus, additional, Brors, Benedikt, additional, Mechtersheimer, Gunhild, additional, Kreutzfeldt, Simon, additional, Heining, Christoph, additional, Lipka, Daniel B., additional, Stenzinger, Albrecht, additional, Schlenk, Richard F., additional, Horak, Peter, additional, Glimm, Hanno, additional, Hübschmann, Daniel, additional, and Fröhling, Stefan, additional

Published
2022
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16. Comprehensive genomic characterization of refractory multiple myeloma reveals a complex mutational and structural landscape associated with drug resistance [Abstract]

Author

Lehners, Nicola, Toprak, Umut H., Xu, Jing, Paramasivam, Nagarajan, Hübschmann, Daniel, Fröhlich, Martina, Hanafiah, Nur H. Md., Mughal, Sadaf, Mai, Elias K., Jauch, Anna, Hillengass, Jens, Eils, Roland, Müller-Tidow, Carsten, Brors, Benedikt, Goldschmidt, Hartmut, Schlesner, Matthias, and Raab, Marc S.

Subjects
ddc:610
Published
2022

17. Comprehensive genomic analysis of refractory multiple myeloma reveals a complex mutational landscape associated with drug resistance and novel therapeutic vulnerabilities

Author

Giesen, Nicola, primary, Paramasivam, Nagarajan, additional, Toprak, Umut H., additional, Huebschmann, Daniel, additional, Xu, Jing, additional, Uhrig, Sebastian, additional, Samur, Mehmet, additional, Bähr, Stella, additional, Fröhlich, Martina, additional, Mughal, Sadaf S., additional, Mai, Elias K., additional, Jauch, Anna, additional, Müller-Tidow, Carsten, additional, Brors, Benedikt, additional, Munshi, Nikhil, additional, Goldschmidt, Hartmut, additional, Weinhold, Niels, additional, Schlesner, Matthias, additional, and Raab, Marc S., additional

Published
2022
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22. Macrophages/microglia represent the major source of indolamine 2,3-dioxygenase expression in melanoma metastases of the brain

Author

Herrera-Rios, Dayana, Mughal, Sadaf S., Teuber-Hanselmann, Sarah, Pierscianek, Daniela, Sucker, Antje, Jansen, Philipp, Schimming, Tobias, Klode, Joachim, Reifenberger, Julia, Felsberg, Jörg, Keyvani, Kathy, Brors, Benedikt, Sure, Ulrich, Reifenberger, Guido, Schadendorf, Dirk, and Helfrich, Iris

Subjects
Medizinische Fakultät » Universitätsklinikum Essen » Institut für Pathologie und Neuropathologie, tumor-associated macrophages, Immunology, Medizin, Medizinische Fakultät » Universitätsklinikum Essen » Klinik für Dermatologie, immunogenic microenvironment, Medizinische Fakultät » Universitätsklinikum Essen » Westdeutsches Tumorzentrum Essen (WTZ), IDO, immune checkpoint molecules, brain metastases, melanoma, Immunology and Allergy, Medizinische Fakultät » Universitätsklinikum Essen » Klinik für Neurochirurgie Wirbelsäulenchirurgie, ddc:610
Abstract

The manifestation of brain metastases in patients with advanced melanoma is a common event that limits patient's survival and quality of life. The immunosuppressive properties of the brain parenchyma are very different compared to the rest of the body, making it plausible that the current success of cancer immunotherapies is specifically limited here. In melanoma brain metastases, the reciprocal interplay between immunosuppressive mediators such as indoleamine 2, 3-dioxygenase (IDO) or programmed cell death-ligand 1 (PD-L1) in the context of neoplastic transformation are far from being understood. Therefore, we analyzed the immunoreactive infiltrate (CD45, CD3, CD8, Forkhead box P3 [FoxP3], CD11c, CD23, CD123, CD68, Allograft Inflammatory factor 1[AIF-1]) and PD-L1 with respect to IDO expression and localization in melanoma brain metastases but also in matched metastases at extracranial sites to correlate intra- and interpatient data with therapy response and survival. Comparative tissue analysis identified macrophages/microglia as the major source of IDO expression in melanoma brain metastases. In contrast to the tumor infiltrating lymphocytes, melanoma cells per se exhibited low IDO expression levels paralleled by cell surface presentation of PD-L1 in intracranial metastases. Absolute numbers and pattern of IDO-expressing cells in metastases of the brain correlated with recruitment and localization of CD8⁺ T cells, implicating dynamic impact on the regulation of T cell function in the brain parenchyma. However, paired analysis of matched intra- and extracranial metastases identified significantly lower fractions of cytotoxic CD8⁺ T cells in intracranial metastases while all other immune cell populations remain unchanged. In line with the already established clinical benefit for PD-L1 expression in extracranial melanoma metastases, Kaplan-Meier analyses correlated PD-L1 expression in brain metastases with favorable outcome in advanced melanoma patients undergoing immune checkpoint therapy. In summary, our data provide new insights into the landscape of immunosuppressive factors in melanoma brain metastases that may be useful in the implication of novel therapeutic strategies for patients undergoing cancer immunotherapy. OA Förderung 2020

Published
2020

23. Macrophages/Microglia Represent the Major Source of Indolamine 2,3-Dioxygenase Expression in Melanoma Metastases of the Brain

Author

Herrera-Rios, Dayana, primary, Mughal, Sadaf S., additional, Teuber-Hanselmann, Sarah, additional, Pierscianek, Daniela, additional, Sucker, Antje, additional, Jansen, Philipp, additional, Schimming, Tobias, additional, Klode, Joachim, additional, Reifenberger, Julia, additional, Felsberg, Jörg, additional, Keyvani, Kathy, additional, Brors, Benedikt, additional, Sure, Ulrich, additional, Reifenberger, Guido, additional, Schadendorf, Dirk, additional, and Helfrich, Iris, additional

Published
2020
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24. Additional file 1: of TelomereHunter – in silico estimation of telomere content and composition from cancer genomes

Author

Feuerbach, Lars, Sieverling, Lina, Deeg, Katharina, Ginsbach, Philip, Hutter, Barbara, Buchhalter, Ivo, Northcott, Paul, Mughal, Sadaf, Chudasama, Priya, Glimm, Hanno, Scholl, Claudia, Lichter, Peter, Fröhling, Stefan, Pfister, Stefan, Jones, David, Rippe, Karsten, and Brors, Benedikt

Abstract

Figure S1. Distribution of intrachromosomal telomeric reads. Figure S2: C-circle assay and TRF analysis of nine pediatric brain tumor samples and matching controls. Figure S3. Validation and benchmark of software tools for telomere content quantification. Figure S4. Classification of telomeric reads using alignment information. Figure S5. Categorization of bwa-mem alignment scores. Figure S6. Impact of alignment algorithms, extraction and filtering of telomeric reads on telomere content estimations. Figure S7. Impact of reference genomes on telomere content estimations. Figure S8. Influence of the repeat threshold parameter on telomere content estimation. Table S1. Parameters for TelomereHunter. Table S2. Description of TelomereHunter output files. Table S3. Run times and maximum memory usage of TelomereHunter. Table S4. Mean amount of intratelomeric reads. (PDF 453 kb)

Published
2019
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25. Abstract 4336: Integrative genomic and transcriptomic analysis of leiomyosarcoma

Author

Chudasama, Priya, primary, Mughal, Sadaf, additional, Sanders, Mathijs, additional, Hübschmann, Daniel, additional, Chung, Inn, additional, Ernst, Aurélie, additional, Kasper, Bernd, additional, Kopp, Hans-Georg, additional, Bauer, Sebastian, additional, Rippe, Karsten, additional, Brors, Benedikt, additional, Renner, Marcus, additional, Hohenberger, Peter, additional, Scholl, Claudia, additional, and Fröhling, Stefan, additional

Published
2018
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26. Integrative genomic and transcriptomic analysis of leiomyosarcoma

Author

Chudasama, Priya, primary, Mughal, Sadaf S., additional, Sanders, Mathijs A., additional, Hübschmann, Daniel, additional, Chung, Inn, additional, Deeg, Katharina I., additional, Wong, Siao-Han, additional, Rabe, Sophie, additional, Hlevnjak, Mario, additional, Zapatka, Marc, additional, Ernst, Aurélie, additional, Kleinheinz, Kortine, additional, Schlesner, Matthias, additional, Sieverling, Lina, additional, Klink, Barbara, additional, Schröck, Evelin, additional, Hoogenboezem, Remco M., additional, Kasper, Bernd, additional, Heilig, Christoph E., additional, Egerer, Gerlinde, additional, Wolf, Stephan, additional, von Kalle, Christof, additional, Eils, Roland, additional, Stenzinger, Albrecht, additional, Weichert, Wilko, additional, Glimm, Hanno, additional, Gröschel, Stefan, additional, Kopp, Hans-Georg, additional, Omlor, Georg, additional, Lehner, Burkhard, additional, Bauer, Sebastian, additional, Schimmack, Simon, additional, Ulrich, Alexis, additional, Mechtersheimer, Gunhild, additional, Rippe, Karsten, additional, Brors, Benedikt, additional, Hutter, Barbara, additional, Renner, Marcus, additional, Hohenberger, Peter, additional, Scholl, Claudia, additional, and Fröhling, Stefan, additional

Published
2018
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27. Targeting Fibroblast Growth Factor Receptor 1 for Treatment of Soft-Tissue Sarcoma

Author

Chudasama, Priya, Renner, Marcus, Straub, Melanie, Mughal, Sadaf S., Hutter, Barbara, Kosaloglu, Zeynep, Schwessinger, Ron, Scheffler, Matthias, Alldinger, Ingo, Schimmack, Simon, Persigehl, Thorsten, Kobe, Carsten, Jaeger, Dirk, von Kalle, Christof, Schirmacher, Peter, Beckhaus, Marie-Kristin, Wolf, Stephan, Heining, Christoph, Groeschel, Stefan, Wolf, Juergen, Brors, Benedikt, Weichert, Wilko, Glimm, Hanno, Scholl, Claudia, Mechtersheimer, Gunhild, Specht, Katja, Froehling, Stefan, Chudasama, Priya, Renner, Marcus, Straub, Melanie, Mughal, Sadaf S., Hutter, Barbara, Kosaloglu, Zeynep, Schwessinger, Ron, Scheffler, Matthias, Alldinger, Ingo, Schimmack, Simon, Persigehl, Thorsten, Kobe, Carsten, Jaeger, Dirk, von Kalle, Christof, Schirmacher, Peter, Beckhaus, Marie-Kristin, Wolf, Stephan, Heining, Christoph, Groeschel, Stefan, Wolf, Juergen, Brors, Benedikt, Weichert, Wilko, Glimm, Hanno, Scholl, Claudia, Mechtersheimer, Gunhild, Specht, Katja, and Froehling, Stefan

Abstract

Purpose: Altered FGFR1 signaling has emerged as a therapeutic target in epithelial malignancies. In contrast, the role of FGFR1 in soft-tissue sarcoma (STS) has not been established. Prompted by the detection and subsequent therapeutic inhibition of amplified FGFR1 in a patient with metastatic leiomyosarcoma, we investigated the oncogenic properties of FGFR1 and its potential as a drug target in patients with STS. Experimental Design: The frequency of FGFR1 amplification and overexpression, as assessed by FISH, microarray-based comparative genomic hybridization and mRNA expression profiling, SNP array profiling, and RNA sequencing, was determined in three patient cohorts. The sensitivity of STS cell lines with or without FGFR1 alterations to genetic and pharmacologic FGFR1 inhibition and the signaling pathways engaged by FGFR1 were investigated using viability assays, colony formation assays, and biochemical analysis. Results: Increased FGFR1 copy number was detected in 74 of 190 (38.9%; cohort 1), 13 of 79 (16.5%; cohort 2), and 80 of 254 (31.5%; cohort 3) patients. FGFR1 overexpression occurred in 16 of 79 (20.2%, cohort 2) and 39 of 254 (15.4%; cohort 3) patients. Targeting of FGFR1 by RNA interference and small-molecule inhibitors (PD173074, AZD4547, BGJ398) revealed that the requirement for FGFR1 signaling in STS cells is dictated by FGFR1 expression levels, and identified the MAPK-ERK1/2 axis as critical FGFR1 effector pathway. Conclusions: These data identify FGFR1 as a driver gene in multiple STS subtypes and support FGFR1 inhibition, guided by patient selection according to the FGFR1 expression and monitoring of MAPK-ERK1/2 signaling, as a therapeutic option in this challenging group of diseases. (C)2016 AACR.

Published
2017

29. Targeting Fibroblast Growth Factor Receptor 1 for Treatment of Soft-Tissue Sarcoma

Author

Chudasama, Priya, primary, Renner, Marcus, additional, Straub, Melanie, additional, Mughal, Sadaf S., additional, Hutter, Barbara, additional, Kosaloglu, Zeynep, additional, Schweßinger, Ron, additional, Scheffler, Matthias, additional, Alldinger, Ingo, additional, Schimmack, Simon, additional, Persigehl, Thorsten, additional, Kobe, Carsten, additional, Jäger, Dirk, additional, von Kalle, Christof, additional, Schirmacher, Peter, additional, Beckhaus, Marie-Kristin, additional, Wolf, Stephan, additional, Heining, Christoph, additional, Gröschel, Stefan, additional, Wolf, Jürgen, additional, Brors, Benedikt, additional, Weichert, Wilko, additional, Glimm, Hanno, additional, Scholl, Claudia, additional, Mechtersheimer, Gunhild, additional, Specht, Katja, additional, and Fröhling, Stefan, additional

Published
2017
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30. PD-L1 (CD274) copy number gain, expression, and immune cell infiltration as candidate predictors for response to immune checkpoint inhibitors in soft-tissue sarcoma

Author

Budczies, Jan, primary, Mechtersheimer, Gunhild, additional, Denkert, Carsten, additional, Klauschen, Frederick, additional, Mughal, Sadaf S., additional, Chudasama, Priya, additional, Bockmayr, Michael, additional, Jöhrens, Korinna, additional, Endris, Volker, additional, Lier, Amelie, additional, Lasitschka, Felix, additional, Penzel, Roland, additional, Dietel, Manfred, additional, Brors, Benedikt, additional, Gröschel, Stefan, additional, Glimm, Hanno, additional, Schirmacher, Peter, additional, Renner, Marcus, additional, Fröhling, Stefan, additional, and Stenzinger, Albrecht, additional

Published
2017
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31. Abstract 457: FGFR1 overexpression is frequent in adult soft tissue sarcoma and predicts sensitivity to FGFR inhibitors

Author

Chudasama, Priya, primary, Renner, Marcus, additional, Specht, Katja, additional, Mughal, Sadaf, additional, Hutter, Barbara, additional, Alldinger, Ingo, additional, Schimmack, Simon, additional, Jäger, Dirk, additional, von Kalle, Christof, additional, Gröschel, Stefan, additional, Wolf, Stephan, additional, Brors, Benedikt, additional, Weichert, Wilko, additional, Glimm, Hanno, additional, Mechtersheimer, Gunhild, additional, Scholl, Claudia, additional, and Fröhling, Stefan, additional

Published
2016
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33. Comprehensive Genomic Characterization of Refractory Multiple Myeloma Reveals a Complex Mutational and Structural Landscape Associated with Drug Resistance

Author

Lehners, Nicola, Toprak, Umut H, Xu, Jing, Paramasivam, Nagarajan, Hübschmann, Daniel, Fröhlich, Martina, Hanafiah, Nur H Md, Mughal, Sadaf, Mai, Elias K, Jauch, Anna, Hillengass, Jens, Eils, Roland, Müller-Tidow, Carsten, Brors, Benedikt, Goldschmidt, Hartmut, Schlesner, Matthias, and Raab, Marc S

Published
2017
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34. HeterozygousFGF8mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies

Author

Zeidler, Claudia, primary, Woelfle, Joachim, additional, Draaken, Markus, additional, Mughal, Sadaf S., additional, Große, Greta, additional, Hilger, Alina C., additional, Dworschak, Gabriel C., additional, Boemers, Thomas M., additional, Jenetzky, Ekkehart, additional, Zwink, Nadine, additional, Lacher, Martin, additional, Schmidt, Dominik, additional, Schmiedeke, Eberhard, additional, Grasshoff-Derr, Sabine, additional, Märzheuser, Stefanie, additional, Holland-Cunz, Stefan, additional, Schäfer, Mattias, additional, Bartels, Enrika, additional, Keppler, Kathleen, additional, Palta, Markus, additional, Leonhardt, Johannes, additional, Kujath, Christina, additional, Rißmann, Anke, additional, Nöthen, Markus M., additional, Reutter, Heiko, additional, and Ludwig, Michael, additional

Published
2014
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35. Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12

Author

Draaken, Markus, primary, Mughal, Sadaf S., additional, Pennimpede, Tracie, additional, Wolter, Stefanie, additional, Wittler, Lars, additional, Ebert, Anne‐Karoline, additional, Rösch, Wolfgang, additional, Stein, Raimund, additional, Bartels, Enrika, additional, Schmidt, Dominik, additional, Boemers, Thomas M., additional, Schmiedeke, Eberhard, additional, Hoffmann, Per, additional, Moebus, Susanne, additional, Herrmann, Bernhard G., additional, Nöthen, Markus M., additional, Reutter, Heiko, additional, and Ludwig, Michael, additional

Published
2013
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36. Tpbpa-Cre-mediated deletion of TFAP2C leads to deregulation of Cdkn1a, Akt1 and the ERK pathway, causing placental growth arrest.

Author

Sharma, Neha, Kubaczka, Caroline, Kaiser, Stephanie, Nettersheim, Daniel, Mughal, Sadaf S., Riesenberg, Stefanie, Hölzel, Michael, Winterhager, Elke, and Schorle, Hubert

Subjects
PLACENTAL growth factor, PLACENTA development, GLYCOGEN synthesis, TROPHOBLAST, BIOLOGICAL research
Abstract

Loss of TFAP2C in mouse leads to developmental defects in the extra-embryonic compartment with lethality at embryonic day (E)7.5. To investigate the requirement of TFAP2C in later placental development, deletion of TFAP2C was induced throughout extra-embryonic ectoderm at E6.5, leading to severe placental abnormalities caused by reduced trophoblast population and resulting in embryonic retardation by E8.5. Deletion of TFAP2C in TPBPA+ progenitors at E8.5 results in growth arrest of the junctional zone. TFAP2C regulates its target genes Cdkn1a (previously p21) and Dusp6, which are involved in repression of MAPK signaling. Loss of TFAP2C reduces activation of ERK1/2 in the placenta. Downregulation of Akt1 and reduced activation of phosphorylated AKT in the mutant placenta are accompanied by impaired glycogen synthesis. Loss of TFAP2C led to upregulation of imprinted gene H19 and downregulation of Slc38a4 and Ascl2. The placental insufficiency post E16.5 causes fetal growth restriction, with 19% lighter mutant pups. Knockdown of TFAP2C in human trophoblast choriocarcinoma JAr cells inhibited MAPK and AKT signaling. Thus, we present a model where TFAP2C in trophoblasts controls proliferation by repressing Cdkn1a and activating the MAPK pathway, further supporting differentiation of glycogen cells by activating the AKT pathway. [ABSTRACT FROM AUTHOR]

Published
2016
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37. Involvement of the WNT and FGF signaling pathways in non-isolated anorectal malformations: Sequencing analysis of WNT3A, WNT5A, WNT11, DACT1, FGF10, FGFR2 and the T gene

Author

DRAAKEN, MARKUS, primary, PRINS, WIEBKE, additional, ZEIDLER, CLAUDIA, additional, HILGER, ALINA, additional, MUGHAL, SADAF S., additional, LATUS, JEANETTE, additional, BOEMERS, THOMAS M., additional, SCHMIDT, DOMINIK, additional, SCHMIEDEKE, EBERHARD, additional, SPYCHALSKI, NICOLE, additional, BARTELS, ENRIKA, additional, NÖTHEN, MARKUS M., additional, REUTTER, HEIKO, additional, and LUDWIG, MICHAEL, additional

Published
2012
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39. Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.

Author

Zeidler, Claudia, Woelfle, Joachim, Draaken, Markus, Mughal, Sadaf S., Große, Greta, Hilger, Alina C., Dworschak, Gabriel C., Boemers, Thomas M., Jenetzky, Ekkehart, Zwink, Nadine, Lacher, Martin, Schmidt, Dominik, Schmiedeke, Eberhard, Grasshoff‐Derr, Sabine, Märzheuser, Stefanie, Holland‐Cunz, Stefan, Schäfer, Mattias, Bartels, Enrika, Keppler, Kathleen, and Palta, Markus

Abstract

Background The acronym VATER/VACTERL association describes the combination of at least three of the following cardinal features: vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. Although fibroblast growth factor-8 ( FGF8) mutations have mainly found in patients with Kallmann syndrome, mice with a hypomorphic Fgf8 allele or complete gene invalidation display, aside from gonadotropin-releasing hormone deficiency, parts or even the entire spectrum of human VATER/VACTERL association. Methods We performed FGF8 gene analysis in 49 patients with VATER/VACTERL association and 27 patients presenting with a VATER/VACTERL-like phenotype (two cardinal features). Results We identified two heterozygous FGF8 mutations in patients displaying either VATER/VACTERL association (p.Gly29_Arg34dup) or a VATER/VACTERL-like phenotype (p.Pro26Leu) without limb anomalies. Whereas the duplication mutation has not been reported before, p.Pro26Leu was once observed in a Kallmann syndrome patient. Both our patients had additional bilateral cryptorchidism, a key phenotypic feature in males with FGF8 associated Kallmann syndrome. Each mutation was paternally inherited. Besides delayed puberty in both and additional unilateral cryptorchidism in one of the fathers, they were otherwise healthy. Serum hormone levels downstream the gonadotropin-releasing hormone in both patients and their fathers were within normal range. Conclusion Our results suggest FGF8 mutations to contribute to the formation of the VATER/VACTERL association. Further studies are needed to support this observation. Birth Defects Research (Part A) 100:750-759, 2014. © 2014 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Published
2014
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