@article{GesslerThomasCouillinetal.1989,
author = {Gessler, Manfred and Thomas, G. H. and Couillin, P. and Junien, C. and McGillivray, B. C. and Hayden, M. and Jaschek, G. and Bruns, G. A.},
title = {A deletion map of the WAGR region on chromosome II},
url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-59255},
year = {1989},
abstract = {The WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) region has been assigned to chromosome 11p13 on the basis of overlapping constitutional deletions found in affected individuals. We have utilized 31 DNA probes which map to the WAGR deletion region, together with six reference loci and 13 WAGR-related deletions, to subdivide this area into 16 intervals. Specific intervals have been correlated with phenotypic features, leading to the identification of individual subregions for the aniridia and Wilms tumor loci. Delineation, by specific probes, of multiple intervals above and below the critical region and of five intervals within the overlap area provides a framework map for molecular characterization of WAGR gene loci and of deletion boundary regions.},
subject = {Biochemie},
language = {en}
}
@article{GesslerBruns1989,
author = {Gessler, Manfred and Bruns, G. A. P.},
title = {A physical map around the WAGR complex on the short arm of chromosome 11},
url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-59246},
year = {1989},
abstract = {A long-range restriction map of part of the short arm of ehromosome 11 including the WAGR region has been constructed using pulsed-field gel electrophoresis and a number of infrequently cutting restriction enzymes. A total of 15.4 Mbp has been mapped in detall, extending from proximal 11p14 to the distal part of 11p12. The map localizes 35 different DNA probes and reveals at least nine areas with features eharaeteristle of BTF islands, some of which may be candidates for the different loci underlying the phenotype of the WAGR syndrome. This map will furthermore allow screening of DNA from individuals with WAGR-related phenotypes and from Wilms tumors for associated chromosomal rearrangements.},
subject = {Biochemie},
language = {en}
}
@article{VortkampThiasGessleretal.1991,
author = {Vortkamp, A. and Thias, U. and Gessler, Manfred and Rosenkranz, W. and Kroisel, P. M. and Tommerup, N. and Kruger, G. and Gotz, J. and Pelz, L. and Grzeschik, Karl-Heinz},
title = {A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p},
url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-59217},
year = {1991},
abstract = {No abstract available},
subject = {Biochemie},
language = {en}
}
@article{SchwartzNeveEisenmanetal.1994,
author = {Schwartz, Faina and Neve, Rachel and Eisenman, Robert and Gessler, Manfred and Bruns, Gail},
title = {A WAGR region gene between PAX-6 and FSHB expressed in fetal brain},
url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-59125},
year = {1994},
abstract = {Developmental delay or mental retardation is a frequent component of multi-system anomaly syndromes associated with chromosomal deletions. Isolation of genes involved in the mental dysfunction in these disorders should define loci important in brain formation or function. We have identified a highly conserved locus in the distal part of 11 p 13 that is prominently expressed in fetal brain. Minimal expression is observed in a number of other fetal tissues. The gene maps distal to PAX-6 but proximal to the loci for brain-derived neurotrophic factor (BDNF) and the beta subunit of follicle stimulating hormone (FSHB), within a region previously implicated in the mental retardation component of some WAGR syndrome patients. Within fetal brain, the corresponding transcript is prominent in frontal, motor and primary visual cortex as weil as in the caudate-putamen. The characteristics of this gene, including the striking evolutionary conservation at the locus, suggest that the encoded protein may function in brain development.},
subject = {Biochemie},
language = {en}
}
@article{BarnekowGessler1986,
author = {Barnekow, Angelika and Gessler, Manfred},
title = {Activation of the pp60\(^{c-src}\) kinase during differentiation of monomyelocytic cells in vitro},
url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-59278},
year = {1986},
abstract = {Tbe proto-oncogene c-src, the cellular homolog of the Rous sarcoma virus (RSV) transforming gene v-src, is expressed in a tissue-specific and age-dependent manner. Its physiological function, although still unknown, appears to be more closely related to differentiation processes than to proliferation processes. To obtain more information about the physiological role of the c-src gene in cells, we have studied differentiation-dependent alterations using the human HL-60 leukaemia cell line as a model system. Induction of monocytic and granulocytic differentiation of HL-60 cells by 12-0-tetradecanoylphorbol-13-acetate (TPA) and dimethylsulfoxide (DMSO) is associated with an activation of the pp60c-src tyrosine kinase, but not with increased c-src gene expression. Control experiments exclude an interaction of TPA and DMSO themselves with the pp60c-src kinase.},
subject = {Biochemie},
language = {en}
}
@article{SegererHadamekZundleretal.2016,
author = {Segerer, Gabriela and Hadamek, Kerstin and Zundler, Matthias and Fekete, Agnes and Seifried, Annegrit and Mueller, Martin J. and Koentgen, Frank and Gessler, Manfred and Jeanclos, Elisabeth and Gohla, Antje},
title = {An essential developmental function for murine phosphoglycolate phosphatase in safeguarding cell proliferation},
series = {Scientific Reports},
volume = {6},
journal = {Scientific Reports},
doi = {10.1038/srep35160},
url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-181094},
year = {2016},
abstract = {Mammalian phosphoglycolate phosphatase (PGP) is thought to target phosphoglycolate, a 2-deoxyribose fragment derived from the repair of oxidative DNA lesions. However, the physiological role of this activity and the biological function of the DNA damage product phosphoglycolate is unknown. We now show that knockin replacement of murine Pgp with its phosphatase-inactive Pgp\(^{D34N}\) mutant is embryonically lethal due to intrauterine growth arrest and developmental delay in midgestation. PGP inactivation attenuated triosephosphate isomerase activity, increased triglyceride levels at the expense of the cellular phosphatidylcholine content, and inhibited cell proliferation. These effects were prevented under hypoxic conditions or by blocking phosphoglycolate release from damaged DNA. Thus, PGP is essential to sustain cell proliferation in the presence of oxygen. Collectively, our findings reveal a previously unknown mechanism coupling a DNA damage repair product to the control of intermediary metabolism and cell proliferation.},
language = {en}
}
@article{HigginsSmilinichSaitetal.1994,
author = {Higgins, M. J. and Smilinich, N. J. and Sait, S. and Koenig, A. and Pongratz, J. and Gessler, Manfred and Richard III., C. W. and James, M. R. and Sanford, J. P. and Kim, B.-W. and Cattelane, J. and Nowak, N. J. and Winterpacht, A. and Zabel, B. U. and Munroe, D. J. and Bric, E. and Housman, D. E. and Jones, C. and Nakamura, Y. and Gerhard, D. S. and Shows, T. B.},
title = {An Ordered NotI Fragment Map of Human Chromosome Band 11p15},
url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-45766},
year = {1994},
abstract = {An ordered NotI fragment map containing over 60 loci and encompassing approximately 17 Mb has been constructed for human chromosome band llpl5. Forty-two probes, including 11 NotI-linking cosmids, were subregionaUy mapped to llpl5 using a subset of the Jl-deletion hybrids. These and 23 other probes defining loci previously mapped to 11p15 were hybridized to genomic DNA digested with NotI and 5 other infrequently cleaving restriction enzymes and separated by pulsed-field gel electrophoresis. Thirty-nine distinct NotI fragments were detected encompassing approximately 85\% of the estimated length of llp15. The predicted order of the gene loci used is cenMYODI- PTH-CALCA-ST5-RBTNI-HPX-HBB-RRMlTH/ INS!1GF2-H19-CTSD-MUC2-DRD4-HRAS-RNHtel. This map wiu allow higher resolution mapping of new Ilp15 markers, facilitate positional cloning of disease genes, and provide a framework for the physical mapping of llp15 in clone contigs.},
subject = {Genom / Genkartierung / Genanalyse},
language = {en}
}
@article{SchmittKellerNourkamiTutdibietal.2011,
author = {Schmitt, Jana and Keller, Andreas and Nourkami-Tutdibi, Nasenien and Heisel, Sabrina and Habel, Nunja and Leidinger, Petra and Ludwig, Nicole and Gessler, Manfred and Graf, Norbert and Berthold, Frank and Lenhof, Hans-Peter and Meese, Eckart},
title = {Autoantibody Signature Differentiates Wilms Tumor Patients from Neuroblastoma Patients},
series = {PLoS ONE},
volume = {6},
journal = {PLoS ONE},
number = {12},
doi = {10.1371/journal.pone.0028951},
url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-133794},
pages = {e28951},
year = {2011},
abstract = {Several studies report autoantibody signatures in cancer. The majority of these studies analyzed adult tumors and compared the seroreactivity pattern of tumor patients with the pattern in healthy controls. Here, we compared the autoimmune response in patients with neuroblastoma and patients with Wilms tumor representing two different childhood tumors. We were able to differentiate untreated neuroblastoma patients from untreated Wilms tumor patients with an accuracy of 86.8\%, a sensitivity of 87.0\% and a specificity of 86.7\%. The separation of treated neuroblastoma patients from treated Wilms tumor patients' yielded comparable results with an accuracy of 83.8\%. We furthermore identified the antigens that contribute most to the differentiation between both tumor types. The analysis of these antigens revealed that neuroblastoma was considerably more immunogenic than Wilms tumor. The reported antigens have not been found to be relevant for comparative analyses between other tumors and controls. In summary, neuroblastoma appears as a highly immunogenic tumor as demonstrated by the extended number of antigens that separate this tumor from Wilms tumor.},
language = {en}
}
@article{WelterWagnerFurtwaengleretal.2021,
author = {Welter, Nils and Wagner, Angelo and Furtw{\"a}ngler, Rhoikos and Melchior, Patrick and Kager, Leo and Vokuhl, Christian and Schenk, Jens-Peter and Meier, Clemens Magnus and Siemer, Stefan and Gessler, Manfred and Graf, Norbert},
title = {Characteristics of nephroblastoma/nephroblastomatosis in children with a clinically reported underlying malformation or cancer predisposition syndrome},
series = {Cancers},
volume = {13},
journal = {Cancers},
number = {19},
issn = {2072-6694},
doi = {10.3390/cancers13195016},
url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-248434},
year = {2021},
abstract = {(1) Background: about 10\% of Wilms Tumor (WT) patients have a malformation or cancer predisposition syndrome (CPS) with causative germline genetic or epigenetic variants. Knowledge on CPS is essential for genetic counselling. (2) Methods: this retrospective analysis focused on 2927 consecutive patients with WTs registered between 1989 and 2017 in the SIOP/GPOH studies. (3) Results: Genitourinary malformations (GU, N = 66, 2.3\%), Beckwith-Wiedemann spectrum (BWS, N = 32, 1.1\%), isolated hemihypertrophy (IHH, N = 29, 1.0\%), Denys-Drash syndrome (DDS, N = 24, 0.8\%) and WAGR syndrome (N = 20, 0.7\%) were reported most frequently. Compared to others, these patients were younger at WT diagnosis (median age 24.5 months vs. 39.0 months), had smaller tumors (349.4 mL vs. 487.5 mL), less often metastasis (8.2\% vs. 18\%), but more often nephroblastomatosis (12.9\% vs. 1.9\%). WT with IHH was associated with blastemal WT and DDS with stromal subtype. Bilateral WTs were common in WAGR (30\%), DDS (29\%) and BWS (31\%). Chemotherapy induced reduction in tumor volume was poor in DDS (0.4\% increase) and favorable in BWS (86.9\% reduction). The event-free survival (EFS) of patients with BWS was significantly (p = 0.002) worse than in others. (4) Conclusions: CPS should be considered in WTs with specific clinical features resulting in referral to a geneticist. Their outcome was not always favorable.},
language = {en}
}
@article{LudwigWernerBackesetal.2016,
author = {Ludwig, Nicole and Werner, Tamara V. and Backes, Christina and Trampert, Patrick and Gessler, Manfred and Keller, Andreas and Lenhof, Hans-Peter and Graf, Norbert and Meese, Eckart},
title = {Combining miRNA and mRNA Expression Profiles in Wilms Tumor Subtypes},
series = {International Journal of Mokecular Sciences},
volume = {17},
journal = {International Journal of Mokecular Sciences},
number = {4},
doi = {10.3390/ijms17040475},
url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-165430},
pages = {475},
year = {2016},
abstract = {Wilms tumor (WT) is the most common childhood renal cancer. Recent findings of mutations in microRNA (miRNA) processing proteins suggest a pivotal role of miRNAs in WT genesis. We performed miRNA expression profiling of 36 WTs of different subtypes and four normal kidney tissues using microarrays. Additionally, we determined the gene expression profile of 28 of these tumors to identify potentially correlated target genes and affected pathways. We identified 85 miRNAs and 2107 messenger RNAs (mRNA) differentially expressed in blastemal WT, and 266 miRNAs and 1267 mRNAs differentially expressed in regressive subtype. The hierarchical clustering of the samples, using either the miRNA or mRNA profile, showed the clear separation of WT from normal kidney samples, but the miRNA pattern yielded better separation of WT subtypes. A correlation analysis of the deregulated miRNA and mRNAs identified 13,026 miRNA/mRNA pairs with inversely correlated expression, of which 2844 are potential interactions of miRNA and their predicted mRNA targets. We found significant upregulation of miRNAs-183, -301a/b and -335 for the blastemal subtype, and miRNAs-181b, -223 and -630 for the regressive subtype. We found marked deregulation of miRNAs regulating epithelial to mesenchymal transition, especially in the blastemal subtype, and miRNAs influencing chemosensitivity, especially in regressive subtypes. Further research is needed to assess the influence of preoperative chemotherapy and tumor infiltrating lymphocytes on the miRNA and mRNA patterns in WT},
language = {en}
}