TY - JOUR
A1 - Gessler, Manfred
A1 - Thomas, G. H.
A1 - Couillin, P.
A1 - Junien, C.
A1 - McGillivray, B. C.
A1 - Hayden, M.
A1 - Jaschek, G.
A1 - Bruns, G. A.
T1 - A deletion map of the WAGR region on chromosome II
N2 - 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.
KW - Biochemie
Y1 - 1989
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59255
ER -
TY - JOUR
A1 - Gessler, Manfred
A1 - Bruns, G. A. P.
T1 - A physical map around the WAGR complex on the short arm of chromosome 11
N2 - 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.
KW - Biochemie
Y1 - 1989
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59246
ER -
TY - JOUR
A1 - Vortkamp, A.
A1 - Thias, U.
A1 - Gessler, Manfred
A1 - Rosenkranz, W.
A1 - Kroisel, P. M.
A1 - Tommerup, N.
A1 - Kruger, G.
A1 - Gotz, J.
A1 - Pelz, L.
A1 - Grzeschik, Karl-Heinz
T1 - A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p
N2 - No abstract available
KW - Biochemie
Y1 - 1991
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59217
ER -
TY - JOUR
A1 - Schwartz, Faina
A1 - Neve, Rachel
A1 - Eisenman, Robert
A1 - Gessler, Manfred
A1 - Bruns, Gail
T1 - A WAGR region gene between PAX-6 and FSHB expressed in fetal brain
N2 - 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.
KW - Biochemie
Y1 - 1994
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59125
ER -
TY - JOUR
A1 - Barnekow, Angelika
A1 - Gessler, Manfred
T1 - Activation of the pp60\(^{c-src}\) kinase during differentiation of monomyelocytic cells in vitro
N2 - 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.
KW - Biochemie
KW - c-src
KW - differentiation
KW - protein tyrosine kinase
KW - protooncogene
Y1 - 1986
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59278
ER -
TY - JOUR
A1 - Higgins, M. J.
A1 - Smilinich, N. J.
A1 - Sait, S.
A1 - Koenig, A.
A1 - Pongratz, J.
A1 - Gessler, Manfred
A1 - Richard III., C. W.
A1 - James, M. R.
A1 - Sanford, J. P.
A1 - Kim, B.-W.
A1 - Cattelane, J.
A1 - Nowak, N. J.
A1 - Winterpacht, A.
A1 - Zabel, B. U.
A1 - Munroe, D. J.
A1 - Bric, E.
A1 - Housman, D. E.
A1 - Jones, C.
A1 - Nakamura, Y.
A1 - Gerhard, D. S.
A1 - Shows, T. B.
T1 - An Ordered NotI Fragment Map of Human Chromosome Band 11p15
N2 - 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.
KW - Genom / Genkartierung / Genanalyse
Y1 - 1994
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-45766
ER -
TY - JOUR
A1 - Schmitt, Jana
A1 - Keller, Andreas
A1 - Nourkami-Tutdibi, Nasenien
A1 - Heisel, Sabrina
A1 - Habel, Nunja
A1 - Leidinger, Petra
A1 - Ludwig, Nicole
A1 - Gessler, Manfred
A1 - Graf, Norbert
A1 - Berthold, Frank
A1 - Lenhof, Hans-Peter
A1 - Meese, Eckart
T1 - Autoantibody Signature Differentiates Wilms Tumor Patients from Neuroblastoma Patients
JF - PLoS ONE
N2 - 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.
KW - Heparan-sulfate
KW - N-Myc
KW - Serum autoantibodies
KW - Suppressors EXT1
KW - Neuro-blastoma
KW - Allelic loss
KW - Lung-cancer
KW - Children
KW - Amplification
KW - Therapy
Y1 - 2011
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-133794
VL - 6
IS - 12
ER -
TY - JOUR
A1 - Welter, Nils
A1 - Wagner, Angelo
A1 - Furtwängler, Rhoikos
A1 - Melchior, Patrick
A1 - Kager, Leo
A1 - Vokuhl, Christian
A1 - Schenk, Jens-Peter
A1 - Meier, Clemens Magnus
A1 - Siemer, Stefan
A1 - Gessler, Manfred
A1 - Graf, Norbert
T1 - Characteristics of nephroblastoma/nephroblastomatosis in children with a clinically reported underlying malformation or cancer predisposition syndrome
JF - Cancers
N2 - (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.
KW - nephroblastoma
KW - clinical malformations
KW - cancer predisposition syndromes
KW - tumor surveillance
KW - outcome
Y1 - 2021
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-248434
SN - 2072-6694
VL - 13
IS - 19
ER -
TY - JOUR
A1 - Schwarz, Klaus
A1 - Hameister, Horst
A1 - Gessler, Manfred
A1 - Grzeschik, Karl-Heinz
A1 - Hansen-Hagge, Thomas E.
A1 - Bartram, Claus R.
T1 - Confirmation of the localization of the human recombination activating gene 1 (RAG1) to chromosome 11p13
N2 - The human recombination activating gene 1 (RAGl) has previously been mapped to chromosomes 14q and 11 p. Here we confirm the chromosome 11 assignment by two independent approaches: autoradiographic and fluorescence in situ hybridization to metaphase spreads and analysis of human-hamster somatic cell hybrid DNA by the polymerase chain reaction (PCR) and Southern blotting. Our results unequivocally localize RAG1 to llp13.
KW - Biochemie
Y1 - 1994
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59136
ER -
TY - JOUR
A1 - Welter, Nils
A1 - Wagner, Angelo
A1 - Furtwängler, Rhoikos
A1 - Melchior, Patrick
A1 - Kager, Leo
A1 - Vokuhl, Christian
A1 - Schenk, Jens-Peter
A1 - Meier, Clemens Magnus
A1 - Siemer, Stefan
A1 - Gessler, Manfred
A1 - Graf, Norbert
T1 - Correction: Welter et al. Characteristics of nephroblastoma/nephroblastomatosis in children with a clinically reported underlying malformation or cancer predisposition syndrome. Cancers 2021, 13, 5016
JF - Cancers
N2 - In the original article [1] there was a mistake in Table 2 as published. Table 2 contains wrong percentages in lines Bilateral disease and Patients with CPS or GU. For this reason the table should be replaced with the correct one as shown below.
KW - nephroblastomatosis
Y1 - 2021
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-250135
SN - 2072-6694
VL - 13
IS - 22
ER -
TY - JOUR
A1 - Vortkamp, Andrea
A1 - Franz, Thomas
A1 - Gessler, Manfred
A1 - Grzeschik, Karl-Heinz
T1 - Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt)
N2 - No abstract available
Y1 - 1992
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-30166
ER -
TY - JOUR
A1 - Gessler, Manfred
A1 - Barnekow, Angelika
T1 - Differential expression of the cellular oncogenes c-src and c-yes in embryonal and adult chicken tissues
N2 - The cellular onc-genes c-src and c-yes are expressed very differently during chicken embryonic development. The c-src mRNA and its translational product are detectable at high levels in brain extracts of chicken embryos and adult chickens, whereas muscle extracts show an age-dependent decrease in the amounts of c-src-specific mRNA and pp60c-src kinase activity. In contrast, the Ievels of c-yes mRNA in brain, heart, and muscle are relatively low in early embryonic stages and increase later on to values comparable to those found for liver, while in adult animals the pattern of c-yes expression is similar to that of the c-src gene. From the close correlation between the Ievels of pp60c-src, its enzymatic activity, and its corresponding mRNA at a given stage of development and in given tissues, it appears that the expression of pp60c-src is primarily controlled at the level of transcription. It is suggested that because of the different patterns of expression, the two cellular oncogenes, c-src and c-yes, play different roles in cell proliferation during early embryonic stages as weil as in ensuing differentiation processes.
KW - Biochemie
Y1 - 1984
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59289
ER -
TY - JOUR
A1 - Poulat, F.
A1 - Morin, D.
A1 - Konig, A.
A1 - Brun, P.
A1 - Giltay, J.
A1 - Sultan, C.
A1 - Dumas, R.
A1 - Gessler, Manfred
A1 - Berta, P.
T1 - Distinct molecular origins for Denys-Drash and Frasier syndromes
N2 - The direct involvment of the Wilm's tumor suppressor gene (WTl) in Denys-Drash syndrome through mutations within exons 8 or 9 has recently been established. The absence of such alterations in three patients with Frasier syndrome provides a molecular basis for distinguishing these two syndromes that are associated with streak gonads, pseudohermaphroditism and renal failure.
KW - Biochemie
Y1 - 1993
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59172
ER -
TY - JOUR
A1 - Konig, Anja
A1 - Jakubiczka, Sybille
A1 - Wieacker, Peter
A1 - Schlösser, Hans W.
A1 - Gessler, Manfred
T1 - Further evidence that imbalance of WT1 isoforms may be involved in Denys-Drash syndrome
N2 - No abstract available
KW - Biochemie
Y1 - 1993
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59167
ER -
TY - JOUR
A1 - Chagtai, Tasnim
A1 - Zill, Christina
A1 - Dainese, Linda
A1 - Wegert, Jenny
A1 - Savola, Suvi
A1 - Popov, Sergey
A1 - Mifsud, William
A1 - Vujanic, Gordan
A1 - Sebire, Neil
A1 - Le Bouc, Yves
A1 - Ambros, Peter F.
A1 - Kager, Leo
A1 - O`Sullivan, Maureen J.
A1 - Blaise, Annick
A1 - Bergeron, Christophe
A1 - Holmquist Mengelbier, Linda
A1 - Gisselsson, David
A1 - Kool, Marcel
A1 - Tytgat, Godelieve A.M.
A1 - van den Heuvel-Eibrink, Marry M.
A1 - Graf, Norbert
A1 - van Tinteren, Harm
A1 - Coulomb, Aurore
A1 - Gessler, Manfred
A1 - Williams, Richard Dafydd
A1 - Pritchard-Jones, Kathy
T1 - Gain of 1q As a Prognostic Biomarker in Wilms Tumors (WTs) Treated With Preoperative Chemotherapy in the International Society of Paediatric Oncology (SIOP) WT 2001 Trial: a SIOP Renal Tumours Biology Consortium Study
JF - Journal of Clinical Oncology
N2 - Purpose
Wilms tumor (WT) is the most common pediatric renal tumor. Treatment planning under International Society of Paediatric Oncology (SIOP) protocols is based on staging and histologic assessment of response to preoperative chemotherapy. Despite high overall survival (OS), many relapses occur in patients without specific risk factors, and many successfully treated patients are exposed to treatments with significant risks of late effects. To investigate whether molecular biomarkers could improve risk stratification, we assessed 1q status and other potential copy number biomarkers in a large WT series.
Materials and Methods
WT nephrectomy samples from 586 SIOP WT 2001 patients were analyzed using a multiplex ligation-dependent probe amplification (MLPA) assay that measured the copy number of 1q and other regions of interest.
Results
One hundred sixty-seven (28%) of 586 WTs had 1q gain. Five-year event-free survival (EFS) was 75.0% in patients with 1q gain (95% CI, 68.5% to 82.0%) and 88.2% in patients without gain (95% CI, 85.0% to 91.4%). OS was 88.4% with gain (95% CI, 83.5% to 93.6%) and 94.4% without gain (95% CI, 92.1% to 96.7%). In univariable analysis, 1q gain was associated with poorer EFS (P<.001; hazard ratio, 2.33) and OS (P=.01; hazard ratio, 2.16). The association of 1q gain with poorer EFS retained significance in multivariable analysis adjusted for 1p and 16q loss, sex, stage, age, and histologic risk group. Gain of 1q remained associated with poorer EFS in tumor subsets limited to either intermediate-risk localized disease or nonanaplastic localized disease. Other notable aberrations associated with poorer EFS included MYCN gain and TP53 loss.
Conclusion
Gain of 1q is a potentially valuable prognostic biomarker in WT, in addition to histologic response to preoperative chemotherapy and tumor stage.
KW - Poor-prognosis
KW - Mutations
KW - Gene
KW - Drosha
KW - MYCN
KW - Mechanisms
KW - Reveals
KW - Event
KW - Relapse
KW - Locus
Y1 - 2016
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-187478
VL - 34
IS - 26
ER -
TY - JOUR
A1 - Stefanovic, Sonia
A1 - Barnett, Phil
A1 - van Duijvenboden, Karel
A1 - Weber, David
A1 - Gessler, Manfred
A1 - Christoffels, Vincent M.
T1 - GATA-dependent regulatory switches establish atrioventricular canal specificity during heart development
JF - Nature Communications
N2 - The embryonic vertebrate heart tube develops an atrioventricular canal that divides the atrial and ventricular chambers, forms atrioventricular conduction tissue and organizes valve development. Here we assess the transcriptional mechanism underlying this localized differentiation process. We show that atrioventricular canal-specific enhancers are GATA-binding site-dependent and act as switches that repress gene activity in the chambers. We find that atrioventricular canal-specific gene loci are enriched in H3K27ac, a marker of active enhancers, in atrioventricular canal tissue and depleted in H3K27ac in chamber tissue. In the atrioventricular canal, Gata4 activates the enhancers in synergy with Bmp2/Smad signalling, leading to H3K27 acetylation. In contrast, in chambers, Gata4 cooperates with pan-cardiac Hdac1 and Hdac2 and chamber-specific Hey1 and Hey2, leading to H3K27 deacetylation and repression. We conclude that atrioventricular canal-specific enhancers are platforms integrating cardiac transcription factors, broadly active histone modification enzymes and localized co-factors to drive atrioventricular canal-specific gene activity.
KW - biological sciences
KW - developmental biology
KW - molecular biology
Y1 - 2014
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-121437
SN - 2041-1723
VL - 5
IS - 3680
ER -
TY - JOUR
A1 - Vortkamp, Andrea
A1 - Gessler, Manfred
A1 - Grzeschik, Karl-Heinz
T1 - GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families
N2 - No abstract available
Y1 - 1991
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-30100
ER -
TY - JOUR
A1 - Salat, Daniela
A1 - Winkler, Anja
A1 - Urlaub, Henning
A1 - Gessler, Manfred
T1 - Hey bHLH Proteins Interact with a FBXO45 Containing SCF Ubiquitin Ligase Complex and Induce Its Translocation into the Nucleus
JF - PLoS One
N2 - The Hey protein family, comprising Hey1, Hey2 and HeyL in mammals, conveys Notch signals in many cell types. The helix-loop-helix (HLH) domain as well as the Orange domain, mediate homo- and heterodimerization of these transcription factors. Although distinct interaction partners have been identified so far, their physiological relevance for Hey functions is still largely unclear. Using a tandem affinity purification approach and mass spectrometry analysis we identified members of an ubiquitin E3-ligase complex consisting of FBXO45, PAM and SKP1 as novel Hey1 associated proteins. There is a direct interaction between Hey1 and FBXO45, whereas FBXO45 is needed to mediate indirect Hey1 binding to SKP1. Expression of Hey1 induces translocation of FBXO45 and PAM into the nucleus. Hey1 is a short-lived protein that is degraded by the proteasome, but there is no evidence for FBXO45-dependent ubiquitination of Hey1. On the contrary, Hey1 mediated nuclear translocation of FBXO45 and its associated ubiquitin ligase complex may extend its spectrum to additional nuclear targets triggering their ubiquitination. This suggests a novel mechanism of action for Hey bHLH factors.
KW - ubiquitination
KW - glycerol
KW - transcription factors
KW - DNA-binding proteins
KW - immunoprecipitation
KW - protein interactions
KW - protein domains
Y1 - 2015
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-125769
VL - 10
IS - 6
ER -
TY - JOUR
A1 - Gessler, Manfred
A1 - Poustka, Annemarie
A1 - Cavenee, Webster
A1 - Neve, Rachael L.
A1 - Orkin, Stuart H.
A1 - Bruns, Gail A.
T1 - Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping
N2 - No abstract available
Y1 - 1990
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-30122
ER -
TY - JOUR
A1 - Gessler, Manfred
A1 - Konig, Anja
A1 - Moore, Jay
A1 - Qualman, Steven
A1 - Arden, Karen
A1 - Cavenee, Webster
A1 - Bruns, Gail
T1 - Homozygous inactivation of WTI in a Wilms' tumor associated with the WAGR syndrome
N2 - Wilms' tumor is a childhood nephroblastoma that is postulated to arise through the inactivation of a tumor suppressor gene by a two-hit mechanism. A candidate II p 13 Wilms' tumor gene, WTI, has been cloned and shown to encode a zinc finger protein. Patients with the WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation) have a high risk of developing Wilms' tumor and they carry constitutional deletions of one chromosome II allele encompassing the WTI gene. Analysis of the remaining WTI allele in a Wilms' tumor from a WAGR patient revealed the deletion of a single nucleotide in exon 7. This mutation likely played a key role in tumor formation, as it prevents translation of the DNA-binding zinc finger domain that is essential for the function of the WTI polypeptide as a transcriptional regulator.
KW - Biochemie
Y1 - 1993
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59146
ER -