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  • 1
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  79. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie; 20080430-20080504; Bonn; DOC08hnod523 /20080422/
    Publication Date: 2008-04-21
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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  • 2
    Keywords: DISEASE ; VARIANTS ; OVARIAN-CANCER ; BLADDER-CANCER ; LINKAGE DISEQUILIBRIUM ; METAANALYSIS ; GENETIC SUSCEPTIBILITY ; imputation ; RISK LOCI ; RECOMBINATION HOTSPOTS
    Abstract: We performed a multistage genome-wide association study including 7,683 individuals with pancreatic cancer and 14,397 controls of European descent. Four new loci reached genome-wide significance: rs6971499 at 7q32.3 (LINC-PINT, per-allele odds ratio (OR) = 0.79, 95% confidence interval (CI) 0.74-0.84, P = 3.0 x 10(-12)), rs7190458 at 16q23.1 (BCAR1/CTRB1/CTRB2, OR = 1.46, 95% CI 1.30-1.65, P = 1.1 x 10(-10)), rs9581943 at 13q12.2 (PDX1, OR = 1.15, 95% CI 1.10-1.20, P = 2.4 x 10(-9)) and rs16986825 at 22q12.1 (ZNRF3, OR = 1.18, 95% CI 1.12-1.25, P = 1.2 x 10(-8)). We identified an independent signal in exon 2 of TERT at the established region 5p15.33 (rs2736098, OR = 0.80, 95% CI 0.76-0.85, P = 9.8 x 10(-14)). We also identified a locus at 8q24.21 (rs1561927, P = 1.3 x 10(-7)) that approached genome-wide significance located 455 kb telomeric of PVT1. Our study identified multiple new susceptibility alleles for pancreatic cancer that are worthy of follow-up studies.
    Type of Publication: Journal article published
    PubMed ID: 25086665
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  • 3
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  GMS Current Posters in Otorhinolaryngology - Head and Neck Surgery; VOL: 3; DOC25 /20070425/
    Publication Date: 2007-04-26
    Description: Die hereditäre hämorrhagische Teleangiektasie ist eine autosomal dominante Erbkrankheit. Klinisch ist sie durch multisystemische arteriovenöse Malformationen (AVM) im Haut, Schleimhaut und Viszeralbereich gekennzeichnet. Pathogenetisch liegen Mutationen des Endoglin (ENG)- und des aktivin-rezeptor-like Kinase (ALK1)-Gens zugrunde. Die DNA von 18 Patienten mit klinisch vermuteten HHT wurden auf das Vorliegen von ENG- und ALK1-Mutationen untersucht. Hierzu wurden die Exone beider Gene sequenziert und mit dem jeweiligen Phänotyp korreliert. Sechs von 18 Patienten zeigten ENG-Mutationen (HHT-1). Es handelte sich in 4 Fällen um eine Punktmutation, in jeweils einem Fall um eine Insertion bzw. Deletion. Zehn Patienten zeigten ALK1-Mutationen (HHT-2). In 5 Fällen lag eine Punktmutation, in 3 Fällen eine Insertion und in 2 Fällen eine Deletion vor. Bei 2 Patienten lagen Punktmutationen für das ENG-Gen und für das ALK1-Gen vor. Insgesamt konnten 3 neue, noch nicht beschriebene Mutation in beiden Genen nachgewiesen werden. Fünf der 8 HHT-1-Patienten wiesen pulmonale AV-Malformationen auf, 2 Patienten eine Leberbeteiligung und ein Patient eine gastrointestinale Beteiligung. In der HHT-2-Gruppe wies nur eine Patientin neben hepatischen und gastrointestinalen AV-Malformationen eine Lungenmanifestation auf. Weitere 5 Patienten zeigten eine Mitbeteiligung der Leber und des GI-Traktes. Endonasale Teleangiektasien waren in beiden Gruppen in unterschiedlicher Ausprägung vorhanden. Die molekularen Charakterisierung ermöglicht es, die Diagnose der HHT bereits vor dem Auftreten klinischer Befunde zu stellen. Die Phänotyp-Korrelation bestätigte eine häufigere Manifestation von pulmonalen AVM bei Träger von Endoglin-Mutationen als bei Trägern von ALK1-Mutationen.
    Keywords: ddc: 610
    Language: German
    Type: article
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  • 4
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  GMS Current Posters in Otorhinolaryngology - Head and Neck Surgery; VOL: 3; DOC69 /20070425/
    Publication Date: 2007-04-26
    Description: Einleitung: Tissue Engineering von Knorpelgewebe insbesondere unter Nutzung von mesenchymalen Stammzellen (MSC) eröffnet neue Möglichkeiten bei der Herstellung von Transplantaten in der rekonstruktiven Chirurgie. Die Extrazelluläre Matrix spielt eine Schlüsselrolle bei der Kontrolle von Phänotyp und Funktion der eingebetteten Zellen und enthält die Integrine als Adhäsionsrezeptoren, die Zell-Zell- und Zell-Matrix-Interaktionen vermitteln. Methoden: MSC wurden aus Knochenmarksbiopsien, Fettgewebe und Nabelschnurblut isoliert, kultiviert und chondrogen differenziert. Die Expression von Integrinen und deren intrazellulären Signalkomponenten wurde mittels Microarray, RT-PCR und Immunhistochemie direkt nach Isolation, sowie nach 1, 2, 5, 10, 15, 20 und 30 Tagen untersucht.Ergebnisse: Es bestanden keine signifikanten Unterschiede bei den verschiedenen Stammzellarten. Der Fibronektin-Rezeptor wurde von frisch isolierten MSC exprimiert und ab Tag 5 vermehrt exprimiert. Die Komponenten des Vitronectin/Osteopontin Rezeptors wurden bei frisch isolierten MSC nicht gefunden, die Expression begann am Tag 2 und stieg bis zum Tag 10 stark an. Der GPIIb/IIIa Rezeptor wurde nach Isolation exprimiert, bis zum Tag 20 stieg die Expression signifikant an. Die Rezeptoren für Collagene wurden nach Isolation schwach exprimiert, ab Tag 5 vermehrt. Als Vermittler der Signale nach intrazellulär zeigten die Integrin Linked Kinase und CD47 ansteigende Expression während chondrogener Differenzierung. Schlussfolgerung: Die Integrin-vermittelte Signalweitergabe scheint eine Rolle bei Generierung und Aufrechterhaltung des chondrocytären Phänotyps während chondrogener Differenzierung zu spielen. Intrazellulär scheinen diese Signale über ILK und CD47 weitergegeben zu werden.
    Keywords: ddc: 610
    Language: German
    Type: article
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  • 5
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    German Medical Science; Düsseldorf, Köln
    In:  GMS Current Posters in Otorhinolaryngology - Head and Neck Surgery; VOL: 2; DOC120 /20060424/
    Publication Date: 2006-04-24
    Description: Einleitung: Tissue Engineering stellt eine neue Methode zur Herstellung autologer Knorpeltransplantate für die rekonstruktive Chirurgie dar. In der vorliegenden Studie wurde die Expression von Molekülen der Transforming Growth Factor beta (TGFbeta)-Familie sowie deren Rezeptoren während der Dedifferenzierung humaner Chondrocyten (HC) sowie während der chondrogenen Differenzierung von Mesenchymalen Stammzellen (hMSZ) untersucht.Methoden: HC wurden aus Septumknorpel gewonnen und in Zellkultur über 1, 6 und 21 Tage gehalten. hMSZ wurden aus Knochenmarksproben isoliert, in vitro amplifiziert und anschließend zu Knorpelgewebe differenziert. Danach erfolgte die Analyse mittels Immunhistochemie, RT-PCR und Microarrays.Ergebnisse: TGF beta1 und 2 wurden während der Dedifferenzierung der HC konstant exprimiert, die hMSZ aktivierten beide während der chondrogenen Differenzierung. Während der Dedifferenzierung der HC erfolgte die Aktivierung von TGFbeta 3 und 4, während der Differenzierung der hMSZ wurden beide inaktiviert. Die zugehörigen TGFbeta-Rezeptoren (TGFR) 1, 2 und 3 wurden von den HC während Dedifferenzierung konstant exprimiert, von den hMSZ wurde TGFR3 während Differenzierung inaktiviert. HC während Dedifferenzierung aktivierten BMP-5 und 8, BMP-2 und 6 wurden inaktiviert. Die hMSZ exprimierten diese Marker konstant während Differenzierung.Schlussfolgerung: TGFbeta3 und 4 scheinen eine Rolle bei der Dedifferenzierung von HC zu spielen, TGFbeta 1 und 2 nicht, jedoch bei der Differenzierung der hMSZ. Die Signalweitergabe scheint für die Dedifferenzierung bei HC über die TGFR 1, 2 und 3 zu erfolgen, für Differenzierung der hMSZ über TGFR 1 und 2. Die BMPs 2, 5, 6 und 8 scheinen die Dedifferenzierung von HC zu beeinflussen, die Differenzierung der hMSZ nicht.
    Keywords: ddc: 610
    Language: German
    Type: article
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  • 6
    Keywords: ACTIVATION, ASSOCIATION, BRCA2, BREAST, breast cancer, BREAST-CANCER, CANCER, cancer risk, CARCINOGE
    Abstract: Overexpression of the proto-oncogene ERBB2 (HER2/NEU) has been observed in 20-30% of breast cancers involving poor prognosis. Genetic alterations within ERBB2 have been shown to induce carcinogenesis and metastasis. We investigated eight annotated single nucleotide polymorphisms for occurrence in familial breast cancer samples. The confirmed variants Ile654Val, Ile655Val and Ala1170Pro were analysed in subsequent epidemiological studies on familial breast cancer risk. While Ala1170Pro resides within a C-terminally located regulatory domain, the two adjacent polymorphisms Ile654Val and Ile655Val are part of the transmembrane domain. A case-control study analysing a cohort of 348 German familial breast cancer cases and 960 corresponding controls showed no significant association of either Ile655Val (OR = 1.05, 95% CI = 0.82-1.34, P = 0.728) or Ala1170Pro (OR = 0.94, 95% CI = 0.74-1.20, P = 0.632) with familial breast cancer risk. Differences in haplotype frequencies between cases and controls could also not be detected. The ERBB2 variant Ile654Val, however, revealed an increased risk for carriers of the heterozygous Val654 allele (OR = 2.56, 95% CI = 1.08-6.08, P = 0.028). The rare Val654 variant is linked with the more frequent Val655, resulting in two consecutive valine instead of two isoleucine residues within the transmembrane domain. Computational analyses suggest that the Val654-Val655 allele provokes receptor dimerization and activation, thus stimulating kinase activity and cell transformation. We hypothesize that ERBB2 Val654 represents an oncogenic variant which might, in addition, influence clinical outcome and predict a worse prognosis
    Type of Publication: Journal article published
    PubMed ID: 15550452
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  • 7
    Keywords: AGE, APOPTOSIS, ASSOCIATION, BINDING, BINDING PROTEIN-3, BREAST, breast cancer, BREAST-CANCER, CANCE
    Abstract: The regulation of growth hormone 1 (GH1) and insulin-like-growth factor-1 (IGF-1) release is under the influence of three pituitary hormones [growth hormone releasing hormone (GHRH), ghrelin (GHRL) and somatostatin (SST)], which act in an autocrine/paracrine fashion in the breast. By binding to their respective receptors, they control cell proliferation, differentiation and apoptosis in a GH1/IGF-1-dependent manner. We investigated single nucleotide polymorphisms (SNPs) in the GHRH, GHRHR, GHRL, GHSR, SST and SSTR2 gene regions in a Polish and a German cohort of 798 breast cancer cases and 1011 controls. Our study revealed an association of a novel TC repeat polymorphism in the SST promoter with a decreased breast cancer risk in the Polish study population [odds ratio (OR), 0.65; 95% confidence interval (CI), 0.44-0.96]. The closely linked SNP IVS1 A+46G showed the same trend. For both polymorphisms the association was stronger in women above the age of 50 (OR, 0.33; 95% CI, 0.14-0.76 and OR, 0.39; 95% CI, 0.18-0.87, respectively). The protective effect of these polymorphisms was confirmed in a haplotype analysis among women above 50 years of age and carrying the two variant alleles (OR, 0.37; 95% CI, 0.17-0.80). In the independent German population, we observed slightly decreased ORs among women above the age of 50 years. In the SSTR2 gene, carriers of the promoter 21/21 TG repeat genotype were at a decreased breast cancer risk (OR, 0.62; 95% CI, 0.41-0.94) compared to carriers of the other genotypes in the Polish population. Furthermore, we identified a protective effect of the GHRHR C-261T SNP in both populations (joint analysis CT+TT versus CC: OR, 0.80; 95% CI, 0.65-0.99). This effect was carried by a haplotype containing the protective allele. Thus, our study concludes a possible protective influence of distinct polymorphisms in genes involved in GH1 release on breast cancer risk
    Type of Publication: Journal article published
    PubMed ID: 16606630
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  • 8
    Keywords: AGE, AMPLIFICATION, ASSOCIATION, BRCA1, BREAST-CANCER, CANCER, case control studies, case-control st
    Abstract: The mouse double minute 2 (MDM2) oncoprotein promotes cell survival and cell cycle progression by inhibiting the p53 tumor suppressor protein. Further, MDM2 overexpression can inhibit DNA double-strand break repair in a p53-independent manner. Recently, it was shown that a single nucleotide polymorphism (SNP) in the MDM2 promoter was associated with an accelerated tumor formation in individuals with a p53 mutation. The present case-control study investigated the association of this SNP (IVSI+309) with the risk and the age of onset of familial breast cancer in patients with unknown p53 mutation status. Data from 549 women affected by familial breast cancer and 1,065 healthy controls were analyzed. The cases did not carry BRCA1/2 mutations. Cases and controls showed a similar genotype distribution and the SNP did not seem to modify the age of onset of familial breast cancer. The data were also examined taking into account the presence of any additional cancer after breast cancer and the family history of cases; however, no association was found. These results suggest that the SNP IVSI+309 alone affects neither the risk nor the age of onset of heritable breast cancer
    Type of Publication: Journal article published
    PubMed ID: 16423991
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  • 9
    Keywords: CANCER ; Germany ; POPULATION ; RISK ; GENES ; PROTEIN ; PROTEINS ; TRANSDUCTION ; PATIENT ; ACTIVATION ; MECHANISM ; IMPACT ; CARCINOGENESIS ; signal transduction ; ASSOCIATION ; polymorphism ; POLYMORPHISMS ; SUSCEPTIBILITY ; BREAST ; breast cancer ; BREAST-CANCER ; MUTATION ; SIGNAL-TRANSDUCTION ; cancer risk ; ONCOLOGY ; RE ; BRCA2 ; INCREASE ; analysis ; TESTS ; USA ; BINDING DOMAIN ; CANCER-RISK ; EPITHELIAL OVARIAN-CANCER ; KINASE-ANCHORING PROTEINS
    Abstract: Data from several studies have suggested that polymorphisms in A-kinase anchoring proteins (AKAPs), which are key components of signal transduction, contribute to carcinogenesis. To evaluate the impact of AKAP variants on breast cancer risk, we genotyped six nonsynonymous sing le-nucleotide polymorphisms that were predicted to be deleterious and found two (M4631, 1389G〉T and N2792S, 8375A〉G) to be associated with an allele dose-dependent increase in risk of familial breast cancer in a German population. We extended the analysis of AKAP9 M4631, which is in strong linkage disequilibrium with AKAP9 N2792S, to 9523 breast cancer patients and 13770 healthy control subjects from seven independent European and Australian breast cancer studies. All statistical tests were two-sided. The collaborative analysis confirmed the association of M4631 with increased breast cancer risk. Among all breast cancer patients, the combined adjusted odds ratio (OR) of breast cancer for individuals homozygous for the rare allele TT (frequency = 0.19) compared with GG homozygotes was 1.17 (95% confidence interval [CL] = 1.08 to 1.27, P =.0003), and the OR for TT homozygotes plus GT heterozygotes compared with GG homozygotes was 1.10 (95% Cl = 1.04 to 1.17, P=.001). Among the combined subset of 2795 familial breast cancer patients, the respective ORs were 1.27 (95% Cl = 1.12 to 1.45, P =.0003) and 1.16 (95% Cl = 1.06 to 1.27, P =.001)
    Type of Publication: Journal article published
    PubMed ID: 18334708
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  • 10
    Keywords: APOPTOSIS ; CANCER ; Germany ; NEW-YORK ; POPULATION ; RISK ; GENE ; ASSOCIATION ; polymorphism ; SUSCEPTIBILITY ; BREAST ; breast cancer ; BREAST-CANCER ; DELETION ; NO ; PROMOTER ; REDUCED RISK ; cancer risk ; REGION ; case-control studies ; ONCOLOGY ; case-control study ; RE ; VARIANT ; PROMOTER POLYMORPHISM ; USA ; caspases ; PROMOTER REGION ; CANCER-RISK ; COMMON VARIANT ; breast cancer risk ; Sp1 binding site ; CASP8-652 6N del
    Abstract: A recent study on an Asian population reported a six-nucleotide insertion-deletion polymorphism (-652 6N del) in the CASP8 promoter region to be strongly associated with a decreased risk of multiple types of cancer, including breast cancer (BC). Here, we investigate the effect of this deletion in four independent large European BC case-control studies, including data from a total of 7,753 cases and 7,921 controls. The combined per allele odds ratio (OR) was 0.97 (95% confidence interval (CI), 95% CI = 0.93-1.02). The present result indicates that the CASP8 -652 6N del variant has no significant effect on BC risk in Europeans
    Type of Publication: Journal article published
    PubMed ID: 17891485
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