Shah, Pranali Nitin

[["dc.bibliographiccitation.firstpage","109"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Immunogenetics"],["dc.bibliographiccitation.lastpage","123"],["dc.bibliographiccitation.volume","68"],["dc.contributor.author","Isernhagen, Antje"],["dc.contributor.author","Schilling, Daniela"],["dc.contributor.author","Monecke, Sebastian"],["dc.contributor.author","Shah, Pranali"],["dc.contributor.author","Elsner, Leslie"],["dc.contributor.author","Walter, Lutz"],["dc.contributor.author","Multhoff, Gabriele"],["dc.contributor.author","Dressel, Ralf"],["dc.date.accessioned","2018-11-07T10:18:55Z"],["dc.date.available","2018-11-07T10:18:55Z"],["dc.date.issued","2016"],["dc.description.abstract","The MHC class I chain-related molecule A (MICA) is a ligand for the activating natural killer (NK) cell receptor NKG2D. A polymorphism causing a valine to methionine exchange at position 129 affects binding to NKG2D, cytotoxicity, interferon-gamma release by NK cells and activation of CD8(+) T cells. It is known that tumors can escape NKG2D-mediated immune surveillance by proteolytic shedding of MICA. Therefore, we investigated whether this polymorphism affects plasma membrane expression (pmMICA) and shedding of MICA. Expression of pmMICA was higher in a panel of tumor (n = 16, P = 0.0699) and melanoma cell lines (n = 13, P = 0.0429) carrying the MICA-129Val/Val genotype. MICA-129Val homozygous melanoma cell lines released more soluble MICA (sMICA) by shedding (P = 0.0015). MICA-129Met or MICA-129Val isoforms differing only in this amino acid were expressed in the MICA-negative melanoma cell line Malme, and clones with similar pmMICA expression intensity were selected. The MICA-129Met clones released more sMICA (P = 0.0006), and a higher proportion of the MICA-129Met than the MICA-129Val variant was retained in intracellular compartments (P = 0.0199). The MICA-129Met clones also expressed more MICA messenger RNA (P = 0.0047). The latter phenotype was also observed in mouse L cells transfected with the MICA expression constructs (P = 0.0212). In conclusion, the MICA-129Met/Val dimorphism affects the expression density of MICA on the plasma membrane. More of the MICA-129Met variants were retained intracellularly. If expressed at the cell surface, the MICA-129Met isoform was more susceptible to shedding. Both processes appear to limit the cell surface expression of MICA-129Met variants that have a high binding avidity to NKG2D."],["dc.identifier.doi","10.1007/s00251-015-0884-8"],["dc.identifier.isi","000369012800002"],["dc.identifier.pmid","26585323"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/12585"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/41550"],["dc.identifier.url","https://sfb1002.med.uni-goettingen.de/production/literature/publications/128"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.relation","SFB 1002: Modulatorische Einheiten bei Herzinsuffizienz"],["dc.relation","SFB 1002 | C05: Bedeutung von zellulären Immunreaktionen für das kardiale Remodeling und die Therapie der Herzinsuffizienz durch Stammzelltransplantation"],["dc.relation.issn","1432-1211"],["dc.relation.issn","0093-7711"],["dc.relation.workinggroup","RG Dressel"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","The MICA-129Met/Val dimorphism affects plasma membrane expression and shedding of the NKG2D ligand MICA"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original_ja"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","241102"],["dc.bibliographiccitation.issue","24"],["dc.bibliographiccitation.journal","Physical Review Letters"],["dc.bibliographiccitation.volume","116"],["dc.contributor.author","Abbott, B. P."],["dc.contributor.author","Abbott, R."],["dc.contributor.author","Abbott, T. D."],["dc.contributor.author","Abernathy, M. R."],["dc.contributor.author","Acernese, F."],["dc.contributor.author","Ackley, K."],["dc.contributor.author","Adams, C."],["dc.contributor.author","Adams, T."],["dc.contributor.author","Addesso, P."],["dc.contributor.author","Adhikari, R. X."],["dc.contributor.author","Chao, S."],["dc.contributor.author","Chen, Y."],["dc.contributor.author","Chung, S."],["dc.contributor.author","Dent, T."],["dc.contributor.author","Franco, S."],["dc.contributor.author","Fricke, T. T."],["dc.contributor.author","Ghosh, S."],["dc.contributor.author","Gras, S."],["dc.contributor.author","Huang, S."],["dc.contributor.author","Karki, S."],["dc.contributor.author","Khan, S."],["dc.contributor.author","Kim, C."],["dc.contributor.author","Munch, J."],["dc.contributor.author","Nguyen, T. T."],["dc.contributor.author","Oliver, M."],["dc.contributor.author","Qin, J."],["dc.contributor.author","Röver, C."],["dc.contributor.author","Schmidt, J."],["dc.contributor.author","Shah, S."],["dc.contributor.author","Singh, A."],["dc.contributor.author","Thomas, M."],["dc.contributor.author","Thomas, P."],["dc.contributor.author","Wang, H."],["dc.contributor.author","Wang, Y."],["dc.contributor.author","Westphal, T."],["dc.contributor.author","Zhang, M."],["dc.contributor.author","Zhang, Y."],["dc.date.accessioned","2016-06-16T20:22:30Z"],["dc.date.accessioned","2021-10-27T13:20:31Z"],["dc.date.available","2016-06-16T20:22:30Z"],["dc.date.available","2021-10-27T13:20:31Z"],["dc.date.issued","2016"],["dc.identifier.doi","10.1103/PhysRevLett.116.241102"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/13362"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/91969"],["dc.language.iso","en"],["dc.notes.intern","Migrated from goescholar"],["dc.relation.issn","1079-7114"],["dc.relation.issn","0031-9007"],["dc.relation.orgunit","Universitätsmedizin Göttingen"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Properties of the Binary Black Hole Merger GW150914"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","UNSP 333"],["dc.bibliographiccitation.journal","Frontiers in Immunology"],["dc.bibliographiccitation.volume","7"],["dc.contributor.author","Boieri, Margherita"],["dc.contributor.author","Shah, Pranali"],["dc.contributor.author","Dressel, Ralf"],["dc.contributor.author","Inngjerdingen, Marit"],["dc.date.accessioned","2018-11-07T10:10:01Z"],["dc.date.available","2018-11-07T10:10:01Z"],["dc.date.issued","2016"],["dc.description.abstract","Bone marrow transplantation (BMT) is the only therapeutic option for many hematological malignancies, but its applicability is limited by life-threatening complications, such as graft-versus-host disease (GvHD). The last decades have seen great advances in the understanding of BMT and its related complications; in particular GvHD. Animal models are beneficial to study complex diseases, as they allow dissecting the contribution of single components in the development of the disease. Most of the current knowledge on the therapeutic mechanisms of BMT derives from studies in animal models. Parallel to BMT, the understanding of the pathophysiology of GvHD, as well as the development of new treatment regimens, has also been supported by studies in animal models. Pre-clinical experimentation is the basis for deep understanding and successful improvements of clinical applications. In this review, we retrace the history of BMT and GvHD by describing how the studies in animal models have paved the way to the many advances in the field. We also describe how animal models contributed to the understanding of GvHD pathophysiology and how they are fundamental for the discovery of new treatments."],["dc.description.sponsorship","European Union grant (CELLEUROPE) [FP7-PEOPLE-2012-ITN-315963]"],["dc.identifier.doi","10.3389/fimmu.2016.00333"],["dc.identifier.isi","000382119100001"],["dc.identifier.pmid","27625651"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/13724"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/39772"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Frontiers Media Sa"],["dc.relation.issn","1664-3224"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","The Role of Animal Models in the Study of Hematopoietic Stem Cell Transplantation and GvHD: A Historical Overview"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","380"],["dc.bibliographiccitation.journal","Frontiers in Immunology"],["dc.bibliographiccitation.volume","8"],["dc.contributor.author","Gam, Rihab"],["dc.contributor.author","Shah, Pranali"],["dc.contributor.author","Crossland, Rachel E."],["dc.contributor.author","Norden, Jean"],["dc.contributor.author","Dickinson, Anne M."],["dc.contributor.author","Dressel, Ralf"],["dc.date.accessioned","2019-07-09T11:43:18Z"],["dc.date.available","2019-07-09T11:43:18Z"],["dc.date.issued","2017"],["dc.description.abstract","The outcome of hematopoietic stem cell transplantation (HSCT) is controlled by genetic factors among which the leukocyte antigen human leukocyte antigen (HLA) matching is most important. In addition, minor histocompatibility antigens and non-HLA gene polymorphisms in genes controlling immune responses are known to contribute to the risks associated with HSCT. Besides single-nucleotide polymorphisms (SNPs) in protein coding genes, SNPs in regulatory elements such as microRNAs (miRNAs) contribute to these genetic risks. However, genetic risks require for their realization the expression of the respective gene or miRNA. Thus, gene and miRNA expression studies may help to identify genes and SNPs that indeed affect the outcome of HSCT. In this review, we summarize gene expression profiling studies that were performed in recent years in both patients and animal models to identify genes regulated during HSCT. We discuss SNP– mRNA–miRNA regulatory networks and their contribution to the risks associated with HSCT in specific examples, including forkheadbox protein 3 and regulatory T cells, the role of the miR-155 and miR-146a regulatory network for graft-versus-host disease, and the function of MICA and its receptor NKG2D for the outcome of HSCT. These examples demonstrate how SNPs affect expression or function of proteins that modulate the alloimmune response and influence the outcome of HSCT. Specific miRNAs targeting these genes and directly affecting expression of mRNAs are identified. It might be valuable in the future to determine SNPs and to analyze miRNA and mRNA expression in parallel in cohorts of HSCT patients to further elucidate genetic risks of HSCT."],["dc.identifier.doi","10.3389/fimmu.2017.00380"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/14421"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/58858"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.relation","info:eu-repo/grantAgreement/EC/FP7/315963/EU/Improving HSCT By Validation Of Biomarkers & Development Of Novel Cellular Therapies/CELLEUROPE"],["dc.relation.issn","1664-3224"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Genetic Association of Hematopoietic Stem Cell Transplantation Outcome beyond Histocompatibility Genes"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1179"],["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","Journal of Insect Physiology"],["dc.bibliographiccitation.lastpage","1184"],["dc.bibliographiccitation.volume","57"],["dc.contributor.author","Ganter, G. K."],["dc.contributor.author","Panaitiu, A. E."],["dc.contributor.author","Desilets, J. B."],["dc.contributor.author","Davis-Heim, J. A."],["dc.contributor.author","Fisher, E. A."],["dc.contributor.author","Tan, L. C. H."],["dc.contributor.author","Heinrich, Ralf"],["dc.contributor.author","Buchanan, E. B."],["dc.contributor.author","Brooks, K. M."],["dc.contributor.author","Kenney, M. T."],["dc.contributor.author","Verde, M. G."],["dc.contributor.author","Downey, J."],["dc.contributor.author","Adams, A. M."],["dc.contributor.author","Grenier, Julien"],["dc.contributor.author","Maddula, S."],["dc.contributor.author","Shah, Pranali"],["dc.contributor.author","Kincaid, K. M."],["dc.contributor.author","O'Brien, J. R. M."],["dc.date.accessioned","2018-11-07T08:52:07Z"],["dc.date.available","2018-11-07T08:52:07Z"],["dc.date.issued","2011"],["dc.description.abstract","Temperature-dependent induction of ecdysteroid deficiency in the ecdysoneless mutant ecd(1) adult Drosophila melanogaster results in altered courtship behavior in males. Ecdysteroid deficiency brings about significantly elevated male-male courtship behavior including song production resembling that directed toward females. Supplementation with dietary 20-hydroxyecdysone reduces male-male attraction, but does not change motor activity, courtship patterns or attraction to females. These observations support the hypothesis that reduced levels of ecdysteroids increase the probability that male fruit flies will display courtship behaviors to male stimuli. (C) 2011 Elsevier Ltd. All rights reserved."],["dc.identifier.doi","10.1016/j.jinsphys.2011.05.007"],["dc.identifier.isi","000295441700001"],["dc.identifier.pmid","21704633"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/22094"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Pergamon-elsevier Science Ltd"],["dc.relation.issn","0022-1910"],["dc.title","Drosophila male courtship behavior is modulated by ecdysteroids"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","33"],["dc.bibliographiccitation.journal","Experimental Hematology"],["dc.bibliographiccitation.lastpage","45"],["dc.bibliographiccitation.volume","50"],["dc.contributor.author","Boieri, Margherita"],["dc.contributor.author","Shah, Pranali"],["dc.contributor.author","Jalapothu, Dasaradha"],["dc.contributor.author","Zaitseva, Olena"],["dc.contributor.author","Walter, Lutz"],["dc.contributor.author","Rolstad, Bent"],["dc.contributor.author","Naper, Christian"],["dc.contributor.author","Dressel, Ralf"],["dc.contributor.author","Inngjerdingen, Marit"],["dc.date.accessioned","2018-11-07T10:23:07Z"],["dc.date.available","2018-11-07T10:23:07Z"],["dc.date.issued","2017"],["dc.description.abstract","Acute graft-versus-host disease (aGvHD) remains a significant hurdle to successful treatment of many hematological disorders. The disease is caused by infiltration of alloactivated donor T cells primarily into the gastrointestinal tract and skin. Although cytotoxic T cells mediate direct cellular damage, T helper (Th) cells differentially secrete inununoregulatory cytokines. aGvHD is thought to be initiated primarily by Thl cells but a consensus is still lacking regarding the role of Th2 and Th17 cells. The aim of this study was to determine the contribution of distinct T-cell subsets to aGvHD in the rat. aGvHD was induced by transplanting irradiated rats with T-cell depleted major histocompatibility complex-mismatched bone marrow, followed 2 weeks later by donor lymphocyte infusion. Near complete donor T-cell chimerism was achieved in the blood and lymphatic tissues, in contrast to mixed chimerism in the skin and gut. Skin and gut donor T cells were predominantly CD4(+), in contrast to T cells in the blood and lymphatic tissues. Genes associated with Th1 cells were upregulated in gut, liver, lung, and skin tissues affected by aGvHD. Increased serum levels of CXCL10 and IL-18 preceded symptoms of aGvHD, accompanied by increased responsiveness to CXCL10 by blood CD4(+) T cells. No changes in the expression of Th2- or Th17-associated genes were observed, indicating that aGvHD in this rat model is mainly Thl driven. The rat model of aGvHD could be instrumental for further investigations of donor T-cell subsets in the skin and gut and for exploring therapeutic options to ameliorate symptoms of aGvHD. Copyright (C) 2017 ISEH - International Society for Experimental Hematology. Published by Elsevier Inc."],["dc.description.sponsorship","European Union [FP7-PEOPLE-2012-ITN-315963]"],["dc.identifier.doi","10.1016/j.exphem.2017.02.002"],["dc.identifier.isi","000403302300005"],["dc.identifier.pmid","28238806"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/42397"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Elsevier Science Inc"],["dc.relation.issn","1873-2399"],["dc.relation.issn","0301-472X"],["dc.title","Rat acute GvHD is Th1 driven and characterized by predominant donor CD4(+) T-cell infiltration of skin and gut"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","361"],["dc.bibliographiccitation.journal","Frontiers in Immunology"],["dc.bibliographiccitation.volume","7"],["dc.contributor.author","Jalapothu, Dasaradha"],["dc.contributor.author","Boieri, Margherita"],["dc.contributor.author","Crossland, Rachel E."],["dc.contributor.author","Shah, Pranali"],["dc.contributor.author","Butt, Isha A."],["dc.contributor.author","Norden, Jean"],["dc.contributor.author","Dressel, Ralf"],["dc.contributor.author","Dickinson, Anne M."],["dc.contributor.author","Inngjerdingen, Marit"],["dc.date.accessioned","2018-11-07T10:08:30Z"],["dc.date.available","2018-11-07T10:08:30Z"],["dc.date.issued","2016"],["dc.description.abstract","MicroRNAs (miRNA) have emerged as central regulators of diverse biological processes and contribute to driving pathology in several diseases. Acute graft-versus-host disease (aGvHD) represents a major complication after allogeneic hematopoietic stem cell transplantation, caused by alloreactive donor T cells attacking host tissues leading to inflammation and tissue destruction. Changes in miRNA expression patterns occur during aGvHD, and we hypothesized that we could identify miRNA signatures in target tissues of aGvHD that may potentially help understand the underlying molecular pathology of the disease. We utilized a rat model of aGvHD with transplantation of fully MHC-mismatched T cell depleted bone marrow, followed by infusion of donor T cells. The expression pattern of 423 rat miRNAs was investigated in skin, gut, and lung tissues and intestinal T cells with the NanoString hybridization platform, in combination with validation by quantitative PCR. MHC-matched transplanted rats were included as controls. In the skin, upregulation of miR-34b and downregulation of miR-326 was observed, while in the intestines, we detected downregulation of miR-743b and a trend toward downregulation of miR-345-5p. Thus, tissue-specific expression patterns of miRNAs were observed. Neither miR-326 nor miR-743b has previously been associated with aGvHD. Moreover, we identified upregulation of miR-146a and miR-155 in skin tissue of rats suffering from aGvHD. Analysis of intestinal T cells indicated 23 miRNAs differentially regulated between aGvHD and controls. Two of these miRNAs were differentially expressed either in skin (miR-326) or in intestinal (miR-345-5p) tissue. Comparison of intestinal and peripheral blood T cells indicated common dysregulated expression of miR-99a, miR-223, miR-326, and miR-345-5p. Analysis of predicted gene targets for these miRNAs indicated potential targeting of an inflammatory network both in skin and in the intestines that may further regulate inflammatory cytokine production. In conclusion, comprehensive miRNA profiling in rats suffering from aGvHD demonstrate tissue-specific differences in the expression patterns of miRNA that may not be detected by profiling of peripheral blood T cells alone. These tissue-specific miRNAs may contribute to distinct pathologic mechanisms and could represent potential targets for therapy."],["dc.description.sponsorship","European Union [FP7-PEOPLE-2012-ITN-315963]"],["dc.identifier.doi","10.3389/fimmu.2016.00361"],["dc.identifier.isi","000383320200001"],["dc.identifier.pmid","27695455"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/13746"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/39474"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Frontiers Media Sa"],["dc.relation.issn","1664-3224"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Tissue-specific expression Patterns of Microrna during acute graft-versus-host Disease in the rat"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","1028850"],["dc.bibliographiccitation.journal","Frontiers in Immunology"],["dc.bibliographiccitation.volume","13"],["dc.contributor.author","Matos, Carina"],["dc.contributor.author","Mamilos, Andreas"],["dc.contributor.author","Shah, Pranali N."],["dc.contributor.author","Meedt, Elisabeth"],["dc.contributor.author","Weber, Daniela"],["dc.contributor.author","Ghimire, Saroj"],["dc.contributor.author","Hiergeist, Andreas"],["dc.contributor.author","Gessner, André"],["dc.contributor.author","Dickinson, Anne"],["dc.contributor.author","Dressel, Ralf"],["dc.contributor.author","Ghimire, Sakhila"],["dc.date.accessioned","2022-12-01T08:31:31Z"],["dc.date.available","2022-12-01T08:31:31Z"],["dc.date.issued","2022"],["dc.description.abstract","The vitamin D receptor (VDR) is critical in regulating intestinal homeostasis and emerging evidence demonstrates that VDR deficiency is a critical factor in inflammatory bowel disease pathology. However, no clinical data exist regarding the intestinal expression of VDR in patients after allogeneic haematopoietic stem cell transplantation (HSCT). Analyzing intestinal biopsies from 90 patients undergoing HSCT with mortality follow-up, we demonstrated that patients with severe acute gastrointestinal graft versus host disease (GI-GvHD) showed significant downregulation of VDR gene expression compared to mild or no acute GI-GvHD patients (p = 0.007). Reduced VDR expression was already detectable at acute GI-GvHD onset compared to GvHD-free patients (p = 0.01). These results were confirmed by immunohistochemistry (IHC) where patients with severe acute GI-GvHD showed fewer VDR+ cells (p = 0.03) and a reduced VDR staining score (p = 0.02) as compared to mild or no acute GI-GvHD patients. Accordingly, low VDR gene expression was associated with a higher cumulative incidence of treatment-related mortality (TRM) (p = 1.6x10-6) but not with relapse-related mortality (RRM). A multivariate Cox regression analysis identified low VDR as an independent risk factor for TRM (p = 0.001, hazard ratio 4.14, 95% CI 1.78-9.63). Furthermore, VDR gene expression significantly correlated with anti-microbial peptides (AMPs) gene expression (DEFA5: r = 0.637, p = 7x10-5, DEFA6: r 0 0.546, p = 0.001). In conclusion, our findings suggest an essential role of the VDR in the pathogenesis of gut GvHD and the prognosis of patients undergoing HSCT."],["dc.identifier.doi","10.3389/fimmu.2022.1028850"],["dc.identifier.pmid","36341397"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/118189"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-621"],["dc.relation.eissn","1664-3224"],["dc.relation.issn","1664-3224"],["dc.relation.orgunit","Deutsches Primatenzentrum"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0/"],["dc.title","Downregulation of the vitamin D receptor expression during acute gastrointestinal graft versus host disease is associated with poor outcome after allogeneic stem cell transplantation"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","195"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","199"],["dc.bibliographiccitation.volume","140A"],["dc.contributor.author","Mueller, A."],["dc.contributor.author","Schackert, Hans K."],["dc.contributor.author","Lange, B."],["dc.contributor.author","Ruschoff, J."],["dc.contributor.author","Fuzesi, Laszlo"],["dc.contributor.author","Willert, J."],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Shah, Pranali"],["dc.contributor.author","Becker, H."],["dc.contributor.author","Epplen, J. T."],["dc.contributor.author","Stemmler, S."],["dc.date.accessioned","2018-11-07T10:19:50Z"],["dc.date.available","2018-11-07T10:19:50Z"],["dc.date.issued","2006"],["dc.description.abstract","Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is caused by heterozygous germline mutations in DNA mismatch repair genes (MMR), (MSH2, MLH1, MSH6. and PMS2) and it is inherited in an autosomal dominant pattern with high penetrance. Several patients have been reported carrying bi-allelic MMR gene mutations and whose phenotype resembled a syndrome with childhood malignancies including hematological malignancies, brain, and colorectal tumors. This phenotype is similar to the tumor spectrum of MMR knockout mice. Herein we describe two brothers of healthy consanguineous parents from Pakistan, who had developed two and three colorectal cancers at the ages of 11 and 12 years, respectively, and less than 30 polyps. Tumor specimens were microsatellite instable (MSI-H), and expression of MSH2 and MSH6 was lost. Mutation analyses of DNA samples from both patients revealed a novel homozygous c.2006-5T > A mutation in intron 12 of the MSH2 gene. This phenotype of the brothers is unusual as they neither develop hematological malignancies nor brain tumors at an older age of presentation than other patients with homozygous MSH2 mutations. The milder phenotype may be due to the expression of low amounts of MSH2 protein with reduced activity. (c) 2005 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/ajmg.a.31070"],["dc.identifier.isi","000235264400001"],["dc.identifier.pmid","16372347"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/41747"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1552-4825"],["dc.title","A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]