A5007518185- Genomic variations and chromosomal abnormalities
- Ovarian cancer diagnosis and treatment
- Chromosomal and Genetic Variations
- Lymphoma Diagnosis and Treatment
- Chronic Lymphocytic Leukemia Research
- Prenatal Screening and Diagnostics
- Viral-associated cancers and disorders
- Angiogenesis and VEGF in Cancer
- Genomics and Chromatin Dynamics
- Acute Myeloid Leukemia Research
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Glycosylation and Glycoproteins Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cancer Genomics and Diagnostics
- Chronic Myeloid Leukemia Treatments
- Renal and related cancers
- Cell Adhesion Molecules Research
- Sarcoma Diagnosis and Treatment
- Immunodeficiency and Autoimmune Disorders
- Congenital heart defects research
- Immunotherapy and Immune Responses
- Gastrointestinal Tumor Research and Treatment
- Eosinophilic Disorders and Syndromes
- T-cell and B-cell Immunology
AGO Austria
2014-2018
Innsbruck Medical University
2003-2013
Luxembourg School of Business
2012
Ordensklinikum Linz Barmherzige Schwestern
2010-2011
German Cancer Research Center
1988-2010
Heidelberg University
1988-2010
National Center on Birth Defects and Developmental Disabilities
2010
Universität Innsbruck
1999-2009
University Hospital Innsbruck
1997-2007
Institute of Medical Biology
1998-2004
Advanced prostate cancer is treated by androgen ablation and/or receptor (AR) antagonists. In order to investigate the mechanisms relevant development of therapy-resistant tumours, we established a new tumour model which closely resembles situation in patients who receive therapy. Androgen-sensitive LNCaP cells were kept androgen-depleted medium for 87 passages. The cell subline this manner, LNCaP-abl, displayed hypersensitive biphasic proliferative response until passage 75. Maximal...
The Smith–Lemli–Opitz syndrome (SLOS) is an inborn disorder of sterol metabolism with characteristic congenital malformations and dysmorphias. All patients suffer from mental retardation. Here we identify the SLOS gene as a Δ7-sterol reductase ( DHCR7 , EC 1.3.1.21 ) required for de novo biosynthesis cholesterol. human murine genes were characterized assigned to syntenic regions on chromosomes 11q13 7F5 by fluorescense in situ hybridization. Among mutations found SLOS, are missense (P51S,...
Smooth muscle cell (SMC) accumulation in the intima of vessels is a key event pathogenesis transplant atherosclerosis. The traditional hypothesis that SMCs lesion are derived from media donor vessel has been challenged by recent observations, but origin still not well established.Here, we use simplified model artery allografts transgenic mice to clearly identify source Aortic segments donated BALB/c allografted ROSA26 (C57B/6) expressing beta-galactosidase (gal) all tissues showed neointimal...
Smooth muscle cell (SMC) accumulation in the inner layer of vessel wall is a key event pathogenesis atherosclerosis vein grafts, but origin cells these lesions has yet to be shown. Herein, we use animal models grafts transgenic mice clearly identify sources SMCs atherosclerosis. Vena cava segments were isografted carotid arteries between four types mice, including SM-LacZ expressing beta-galactosidase (beta-gal) vascular SMCs, SM-LacZ/apoE(-/-), ROSA26 beta-gal all tissues, and wild-type...
Characterization of novel fusion genes in acute leukemia is important for gaining information about genesis. We describe the characterization a new ETV6 gene myeloid (AML) FAB M0 as result an uncommon translocation involving chromosomes 12 and 15.The locus at 12p13 was shown to be translocated constitute 5' end product by break apart fluorescence situ hybridisation (FISH). To identify partner 3' rapid amplification cDNA-ends with polymerase chain reaction (RACE PCR) performed followed...
Dendritic cells (DC) are professional antigen-presenting specialized in the initiation of primary immune responses. We were interested to know whether mature DC can be grown vitro from peripheral blood mononuclear (PBMC) patients with chronic myelogenous leukemia (CML), and they carry Philadelphia (Ph) translocation. Using a method recently described, generated PBMC precursors 12 CML using GM-CSF, IL-4, monocyte-conditioned medium. exhibited typical morphology thin cytoplasmatic processes...
The semilethal skeletal malformation syndrome campomelic dysplasia (CD) with or without XY sex reversal is caused by mutations within the SOX9 gene on 17q24.3 chromosomal aberrations (translocations, inversions deletions) breakpoints outside coding region. previously published CD translocation upstream of fall into two clusters: a proximal cluster between 50–300 kb and distal 899–932 kb. Here, we present clinical, cytogenetic molecular data from novel cases. Case 1 karyotype...
Mutations in the Y-located testis-determining gene SRY are one cause for XY sex reversal. We have previously identified four mutations a total of 45 sex-reversed females with gonadal dysgenesis (XY GD). In new sample 16 GD cases, three undescribed were identified. Two point that lead to amino acid substitutions HMG domain SRY, M64R, and F67V. The third mutation is single base insertion 5′ box within codon 43, converting this lysine stop (K43X). A 33 so far been described account only 10–15%...
Glucocorticoids (GCs) specifically induce apoptosis in malignant lymphoblasts and are thus pivotal the treatment of acute lymphoblastic leukemia (ALL). However, GC-resistance is a therapeutic problem with an unclear molecular mechanism. We generated approximately 70 GC-resistant sublines from GC-sensitive B- T-ALL cell line investigated their mechanisms resistance. In response to GCs, all subclones analyzed by real-time polymerase chain reaction (PCR) showed deficient up-regulation...
Interferon-α (IFN-α) alone or in combination with cytostatic drugs can induce major and durable cytogenetic responses about 20 to 25% of chronic myeloid leukemia (CML) patients. Since these patients have a significant survival benefit, more frequent follow-up investigations become clinically important but require bone marrow (BM) aspirates. The aim our study was evaluate interphase fluorescence situ hybridization (IPF) on peripheral blood (PB) smears as rapid reliable method quantify...
We describe for the first time a new integral molecular pathway, linking transcription factor E2F3a to epidermal growth receptor (EGFR) activation in ovarian cancer cells. Investigations on role of E2F family members EGFR-mediated mitogenic signaling revealed that was selectively upregulated following EGFR activation, whereas all other remained unaffected. In contrast, EGF treatment healthy surface epithelial and mesothelial cells yielded selective upregulation proliferation-promoting E2F1...
Activation of hepatic stellate cells is considered to be the main step in development liver fibrosis, which characterized by transition quiescent vitamin-A-rich proliferative, fibrogenic and contractile myofibroblasts. The identification regulatory genes during early cell activation transdifferentiation essential extend our knowledge fibrogenesis. In liver, gene CSRP2 exclusively expressed cells, whereas no transcripts are detectable hepatocytes, sinusoidal endothelial or Kupffer cells....
We demonstrated the cysteine proteinase cathepsin B in two human lung tumor cell lines by cytochemical and immunocytochemical methods. The were derived from a squamous carcinoma of (HS-24) metastasis to adrenal gland an adenocarcinoma (SB-3). For comparison control, normal fibroblasts cells (Wi-38) also investigated. Intracellular activity was detected all three lines. SB-3 fibroblast showed almost equal activity, which considerably stronger than that HS-24 cells. Specific inhibitors for...
Activation of hepatic stellate cells is considered to be the main step in development liver fibrosis, which characterized by transition quiescent vitamin-A-rich proliferative, fibrogenic and contractile myofibroblasts. The identification regulatory genes during early cell activation transdifferentiation essential extend our knowledge fibrogenesis. In liver, gene CSRP2 exclusively expressed cells, whereas no transcripts are detectable hepatocytes, sinusoidal endothelial or Kupffer cells....
We report a dysmorphic boy with de novo partial trisomy 1q. The has microcephaly, bilateral cleft lip and palate, low set ears, brain anomalies, pulmonary stenosis, duodenal obstruction, dysplastic kidneys, bifid thumbs. trisomic segment 1q32-qter is duplicated an inverted insertion at 1p36.3. aberration was initially detected amniocentesis confirmed defined by GTG banding, chromosome microdissection, FISH on postnatal blood samples. parents had normal karyotypes. De duplications of 1q have...