TY - JOUR
A1 - Wegert, Jenny
A1 - Vokuhl, Christian
A1 - Collord, Grace
A1 - Del Castillo Velasco-Herrera, Martin
A1 - Farndon, Sarah J.
A1 - Guzzo, Charlotte
A1 - Jorgensen, Mette
A1 - Anderson, John
A1 - Slater, Olga
A1 - Duncan, Catriona
A1 - Bausenwein, Sabrina
A1 - Streitenberger, Heike
A1 - Ziegler, Barbara
A1 - Furtwängler, Rhoikos
A1 - Graf, Norbert
A1 - Stratton, Michael R.
A1 - Campbell, Peter J.
A1 - Jones, David TW
A1 - Koelsche, Christian
A1 - Pfister, Stefan M.
A1 - Mifsud, William
A1 - Sebire, Neil
A1 - Sparber-Sauer, Monika
A1 - Koscielniak, Ewa
A1 - Rosenwald, Andreas
A1 - Gessler, Manfred
A1 - Behjati, Sam
T1 - Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants
JF - Nature Communications
N2 - Soft tissue tumors of infancy encompass an overlapping spectrum of diseases that pose unique diagnostic and clinical challenges. We studied genomes and transcriptomes of cryptogenic congenital mesoblastic nephroma (CMN), and extended our findings to five anatomically or histologically related soft tissue tumors: infantile fibrosarcoma (IFS), nephroblastomatosis, Wilms tumor, malignant rhabdoid tumor, and clear cell sarcoma of the kidney. A key finding is recurrent mutation of EGFR in CMN by internal tandem duplication of the kinase domain, thus delineating CMN from other childhood renal tumors. Furthermore, we identify BRAF intragenic rearrangements in CMN and IFS. Collectively these findings reveal novel diagnostic markers and therapeutic strategies and highlight a prominent role of isolated intragenic rearrangements as drivers of infant tumors.
KW - cancer
KW - genetics
Y1 - 2018
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-233446
VL - 9
ER -
TY - JOUR
A1 - Tu, Xiaolin
A1 - Chen, Jianquan
A1 - Lim, Joohyun
A1 - Karner, Courtney M.
A1 - Lee, Seung-Yon
A1 - Heisig, Julia
A1 - Wiese, Cornelia
A1 - Surendran, Kameswaran
A1 - Kopan, Raphael
A1 - Gessler, Manfred
A1 - Long, Fanxin
T1 - Physiological Notch Signaling Maintains Bone Homeostasis via RBPjk and Hey Upstream of NFATc1
JF - PLoS Genetics
N2 - Notch signaling between neighboring cells controls many cell fate decisions in metazoans both during embryogenesis and in postnatal life. Previously, we uncovered a critical role for physiological Notch signaling in suppressing osteoblast differentiation in vivo. However, the contribution of individual Notch receptors and the downstream signaling mechanism have not been elucidated. Here we report that removal of Notch2, but not Notch1, from the embryonic limb mesenchyme markedly increased trabecular bone mass in adolescent mice. Deletion of the transcription factor RBPjk, a mediator of all canonical Notch signaling, in the mesenchymal progenitors but not the more mature osteoblast-lineage cells, caused a dramatic high-bone-mass phenotype characterized by increased osteoblast numbers, diminished bone marrow mesenchymal progenitor pool, and rapid age-dependent bone loss. Moreover, mice deficient in Hey1 and HeyL, two target genes of Notch-RBPjk signaling, exhibited high bone mass. Interestingly, Hey1 bound to and suppressed the NFATc1 promoter, and RBPjk deletion increased NFATc1 expression in bone. Finally, pharmacological inhibition of NFAT alleviated the high-bone-mass phenotype caused by RBPjk deletion. Thus, Notch-RBPjk signaling functions in part through Hey1-mediated inhibition of NFATc1 to suppress osteoblastogenesis, contributing to bone homeostasis in vivo.
KW - expression
KW - axial skeletal defects
KW - transcription factor
KW - alagille syndrome
KW - osteoblast differentiation
KW - human jagged1
KW - aortic-valve
KW - T cells
KW - mutations
KW - mice
Y1 - 2012
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-133490
VL - 8
IS - 3
ER -
TY - JOUR
A1 - Henry, Isabelle
A1 - Hoovers, Jan
A1 - Barichard, Fernande
A1 - Berthéas, Marie-Francoise
A1 - Puech, Anne
A1 - Prieur, Fabienne
A1 - Gessler, Manfred
A1 - Bruns, Gail
A1 - Mannens, Marcel
A1 - Junien, Claudine
T1 - Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family
N2 - The combined use of qualitative and quantitative analysis of I I p I 3 polymorphic markers tagether with chromosomal in situ suppression hybridization (CISS) with biotin labeled probes mapping to I I p allowed us to characterize a complex rearrangement segregating in a family. We detected a pericentric intrachromosomal insertion responsible (or recurrence of del( I I )(p 13p 14) in the family: an insertion of band I I p 13-p 14 carrying the genes for predisposition to Wilms' tumor, WT I, and for aniridia, AN2, into the long arm of chromosome I I in II q 13-q 1<4. Asymptomatic balanced carriers were observed over three generations. Classical cytogenetics had failed to detect this anomaly in the balanced carriers, who were first considered to be somatic mosaics for del( II )(p 13). Two of these women gave birth to children carrying a deleted chromosome II. most likely resulting from the loss of the I I p 13 band inserted in I I q. Although in both cases the deletion encompassed exactly the same maternally inherited markers, there was a wide Variation in clinical expression. One child, with the karyotype 46,XY,del(ll)(pllpl4), presented the full-blown WAGR syndrome with anlridia, mental retardation, Wilms' tumor, and pseudohermaphroditism, but also had proteinuria and glomerular sclerosis reminiscent of Drash syndrome. In contrast, the other one, a girl with the karyotype 46,XX,del( I I )(p I 3), only had aniridia. Although a specific set of mutational sites has been observed in Drash patients, these findings suggest that the loss of one copy of the WTI gene can result in similar genital and kidney abnormalities.
KW - Biochemie
Y1 - 1993
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59157
ER -
TY - JOUR
A1 - Martín, Ovidio Jiménez
A1 - Schlosser, Andreas
A1 - Furtwängler, Rhoikos
A1 - Wegert, Jenny
A1 - Gessler, Manfred
T1 - MYCN and MAX alterations in Wilms tumor and identification of novel N-MYC interaction partners as biomarker candidates
JF - Cancer Cell International
N2 - Background
Wilms tumor (WT) is the most common renal tumor in childhood. Among others, MYCN copy number gain and MYCN P44L and MAX R60Q mutations have been identified in WT. MYCN encodes a transcription factor that requires dimerization with MAX to activate transcription of numerous target genes. MYCN gain has been associated with adverse prognosis in different childhood tumors including WT. The MYCN P44L and MAX R60Q mutations, located in either the transactivating or basic helix-loop-helix domain, respectively, are predicted to be damaging by different pathogenicity prediction tools, but the functional consequences remain to be characterized.
Methods
We screened a large cohort of unselected WTs for MYCN and MAX alterations. Wild-type and mutant protein function were characterized biochemically, and we analyzed the N-MYC protein interactome by mass spectrometric analysis of N-MYC containing protein complexes.
Results
Mutation screening revealed mutation frequencies of 3% for MYCN P44L and 0.9% for MAX R60Q that are associated with a higher risk of relapse. Biochemical characterization identified a reduced transcriptional activation potential for MAX R60Q, while the MYCN P44L mutation did not change activation potential or protein stability. The protein interactome of N-MYC-P44L was likewise not altered as shown by mass spectrometric analyses of purified N-MYC complexes. Nevertheless, we could identify a number of novel N-MYC partner proteins, e.g. PEG10, YEATS2, FOXK1, CBLL1 and MCRS1, whose expression is correlated with MYCN in WT samples and several of these are known for their own oncogenic potential.
Conclusions
The strongly elevated risk of relapse associated with mutant MYCN and MAX or elevated MYCN expression corroborates their role in WT oncogenesis. Together with the newly identified co-expressed interactors they expand the range of potential biomarkers for WT stratification and targeting, especially for high-risk WT.
KW - Wilms tumor
KW - MYCN
KW - MAX
KW - interactome
KW - mutation screening
Y1 - 2021
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-265542
VL - 21
ER -
TY - JOUR
A1 - Williams, Richard D.
A1 - Chagtai, Tasnim
A1 - Alcaide-German, Marisa
A1 - Apps, John
A1 - Wegert, Jenny
A1 - Popov, Sergey
A1 - Vujanic, Gordan
A1 - Van Tinteren, Harm
A1 - Van den Heuvel-Eibrink, Marry M
A1 - Kool, Marcel
A1 - De Kraker, Jan
A1 - Gisselsson, David
A1 - Graf, Norbert
A1 - Gessler, Manfred
A1 - Pritchard-Jones, Kathy
T1 - Multiple mechanisms of MYCN dysregulation in Wilms tumour
JF - Oncotarget
N2 - Genomic gain of the proto-oncogene transcription factor gene MYCN is associated with poor prognosis in several childhood cancers. Here we present a comprehensive copy number analysis of MYCN in Wilms tumour (WT), demonstrating that gain of this gene is associated with anaplasia and with poorer relapse-free and overall survival, independent of histology. Using whole exome and gene-specific sequencing, together with methylation and expression profiling, we show that MYCN is targeted by other mechanisms, including a recurrent somatic mutation, P44L, and specific DNA hypomethylation events associated with MYCN overexpression in tumours with high risk histologies. We describe parallel evolution of genomic copy number gain and point mutation of MYCN in the contralateral tumours of a remarkable bilateral case in which independent contralateral mutations of TP53 also evolve over time. We report a second bilateral case in which MYCN gain is a germline aberration. Our results suggest a significant role for MYCN dysregulation in the molecular biology of Wilms tumour. We conclude that MYCN gain is prognostically significant, and suggest that the novel P44L somatic variant is likely to be an activating mutation.
KW - integrative genomics viewer
KW - oncogene amplification
KW - sequencing data
KW - gene
KW - gain
KW - copy number
KW - somatic mutations
KW - beta-catenin
KW - histology
KW - reveals
KW - Wilms tumour
KW - MYCN
KW - DNA methylation
KW - prognostic marker
Y1 - 2015
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-143471
VL - 6
IS - 9
ER -
TY - JOUR
A1 - Gessler, Manfred
A1 - Bruns, Gail A. P.
T1 - Molecular mapping and cloning of the breakpoints of a chromosome 11p14.1-p13 deletion associated with the AGR syndrome
N2 - Chromosome 11p13 is frequently rearranged in individuals with the WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) or parts of this syndrome. To map the cytogenetic aberrations molecularly, we screened DNA from cell Unes with known WAGR-related chromosome abnormalities for rearrangements with pulsed fleld gel (PFG) analysis using probes deleted from one chromosome 11 homolog of a WAGR patient. The first alteration was detected in a cell line from an individual with aniridia, genitourinary anomalies, mental retardation, and a deletion described as 11p14.1-p13. We have located one breakpoint close to probe HU11-164B and we have cloned both breakpoint sites as well as the junctional fragment. The breakpoints subdivide current intervals on the genetic map, and the probes for both sides will serve as important additional markers for a long-range restriction map of this region. Further characterization and sequencing of the breakpoints may yield insight into the mechanisms by which these deletions occur.
KW - Biochemie
Y1 - 1988
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59264
ER -
TY - JOUR
A1 - Vortkamp, Andrea
A1 - Gessler, Manfred
A1 - Paslier, D. Le
A1 - Elaswarapu, R.
A1 - Smith, S.
A1 - Grzeschik, Karl-Heinz
T1 - Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region
N2 - Disruption of the zinc finger gene GLI3 has been shown to be the cause of Greig cephalopolysyndactyly syndrome (GCPS), at least in some GCPS translocation patients. To characterize this genomic region on human chromosome 7p13, we have isolated a VAC contig of more than 1000 kb including the GLI3 gene. In this contig the gene itself spans at least 200-250 kb. A CpG island is located in the vicinity of the 5' region of the known GLI3 cDNA, implying a potential promoter region.
Y1 - 1994
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-30182
ER -
TY - JOUR
A1 - Gessler, Manfred
A1 - König, A.
A1 - Arden, K.
A1 - Grundy, P.
A1 - Orkin, S. H.
A1 - Sallan, S.
A1 - Peters, C.
A1 - Ruyle, S.
A1 - Mandell, J.
A1 - Li, F.
A1 - Cavenee, W.
A1 - Bruns, G. A.
T1 - Infrequent mutation of the WT1 gene in 77 Wilms' Tumors
N2 - Homozygous deletions in Wilms' tumor DNA have been a key step in the identification and isolation of the WTI gene. Several additional loci are also postulated to contribute to Wilms' tumor formation. To assess the frequency of WTI alterations we have analyzed the WTI locus in a panel of 77 Wilms' tumors. Eight tumors showed evidence for large deletions of several hundred or thousand kilobasepairs of DNA, some of which were also cytogenetically detected. Additional intragenic mutations were detected using more sensitive SSCP analyses to scan all 10 WTI exons. Most of these result in premature stop codons or missense mutations that inactivate the remaining WTI allele. The overall frequency of WTI alterations detected with these methods is less than 15%. While some mutations may not be detectable with the methods employed, our results suggest that direct alterations of the WTI gene are present in only a small fraction of Wilms' tumors. Thus, mutations at other Wilms' tumor loci or disturbance of interactions between these genes likely play an important role in Wilms' tumor development.
KW - Wilms' tumor
KW - WTI
KW - Zinc finger gene
KW - Tumor suppressor gene
KW - Nephroblastoma
KW - Deletion analysis
KW - SSCP analysis
KW - Mutation screening
Y1 - 1994
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-34308
ER -
TY - JOUR
A1 - Wolf, Markus
A1 - Klug, Jörg
A1 - Hackenberg, Reinhard
A1 - Gessler, Manfred
A1 - Grzeschik, Karl-Heinz
A1 - Beato, Miguel
A1 - Suske, Guntram
T1 - Human CC10, the homologue of rabbit uteroglobin: genomic cloning, chromosomal localization and expression in endometrial cell lines
N2 - No abstract available
KW - Biochemie
Y1 - 1992
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59206
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 -
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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 -