A5103106405- Colorectal Cancer Treatments and Studies
- Cancer Immunotherapy and Biomarkers
- Immunotherapy and Immune Responses
- Gastric Cancer Management and Outcomes
- Genetic factors in colorectal cancer
- CAR-T cell therapy research
- Muscle Physiology and Disorders
- Cancer Treatment and Pharmacology
- Hepatocellular Carcinoma Treatment and Prognosis
- Colorectal Cancer Surgical Treatments
- Pancreatic and Hepatic Oncology Research
- Cancer Cells and Metastasis
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Genetic Neurodegenerative Diseases
- Photosynthetic Processes and Mechanisms
- Neuroblastoma Research and Treatments
- HER2/EGFR in Cancer Research
- Atherosclerosis and Cardiovascular Diseases
- RNA Research and Splicing
- Cancer Genomics and Diagnostics
- Algal biology and biofuel production
- S100 Proteins and Annexins
- Pancreatitis Pathology and Treatment
- Molecular Biology Techniques and Applications
Austrian Breast & Colorectal Cancer Study Group
2024
Landeskrankenhaus Feldkirch
2011-2024
University of Zurich
2021-2024
Invitae (United States)
2015-2020
University Hospital of Zurich
2014-2018
Vorarlberg Institute for Vascular Investigation and Treatment
2011-2017
Marshfield Clinic
2014
Paracelsus Medical University
2014
University of Southern California
2010-2012
Private University in the Principality of Liechtenstein
2011
Interleukin-8 (IL-8), a chemokine with defining CXC amino acid motif, is known to possess tumorigenic and proangiogenic properties. Overexpression of IL-8 has been detected in many human tumors, including colorectal cancer (CRC), associated poor prognosis. The goal our study was determine the role overexpression CRC cells vitro vivo. We stably transfected cDNA into two colon cell lines, HCT116 Caco2, selected IL-8-secreting transfectants. Real-time RT-PCR confirmed that mRNA overexpressed...
Tertiary lymphoid structures (TLS) are associated with favorable outcome in non-metastatic colorectal carcinoma (nmCRC), but the dynamics of TLS maturation and its association effective anti-tumor immune surveillance nmCRC unclear. Here, we hypothesized that not only number also their composition harbors information on recurrence risk nmCRC. In a comprehensive molecular, tissue, laboratory, clinical analysis 109 patients stage II/III nmCRC, assessed numbers degree surgical specimens by...
The ACTA1 gene encodes skeletal muscle alpha-actin, which is the predominant actin isoform in sarcomeric thin filaments of adult muscle, and essential, along with myosin, for contraction. disease-causing mutations were first described 1999, when a total 15 known. In this article we describe 177 different mutations, including 85 that have not been before. result five overlapping congenital myopathies: nemaline myopathy; intranuclear rod filament aggregate fiber type disproportion; myopathy...
Limb-girdle muscular dystrophy (LGMD) has been linked to 15 chromosomal loci, 7 autosomal-dominant (LGMD1A E) and 10 autosomal-recessive (LGMD2A J). To determine the distribution of subtypes among patients in United States, 6 medical centers evaluated with a referral diagnosis LGMD. Muscle biopsies provided histopathology immunodiagnostic testing, their protein abnormalities along clinical parameters directed mutation screening. The 23 was disorder other than Of remaining 289 unrelated...
Mutations in the oncogenes KRAS and BRAF have been identified as prognostic factors patients with colorectal diseases predictors of negative outcome epidermal growth factor receptor-targeted therapies. Therefore, accurate mutation detection both genes, BRAF, is increasing clinical relevance. We aimed at optimizing allele-specific real-time PCR assays for common mutations Val600Glu using primers allelic discrimination probes (TaqMan) quantification. Each reaction mix contains a co-amplified...
Recent evidence suggests that cancer stem cells (CSC) are responsible for key elements of colon progression and recurrence. Germline variants in CSC genes may result altered gene function and/or activity, thereby causing interindividual differences a patient's tumor recurrence capacity chemoresistance. We investigated germline polymorphisms comprehensive panel to predict time (TTR) patients with stage III high-risk II cancer.A total 234 treated 5-fluorouracil-based chemotherapy at the...
There is substantial germline genetic variability within angiogenesis pathway genes, thereby causing interindividual differences in angiogenic capacity and resistance to antiangiogenesis therapy. We investigated polymorphisms genes involved VEGF-dependent -independent pathways predict clinical outcome tumor response metastatic colorectal cancer (mCRC) patients treated with bevacizumab oxaliplatin-based chemotherapy.A total of 132 first-line FOLFOX or XELOX were included this study. Genomic...
Purpose: Combination therapy of adoptively transferred redirected T cells and checkpoint inhibitors aims for higher response rates in tumors poorly responsive to immunotherapy like malignant pleural mesothelioma (MPM). Only most recently the issue an optimally active chimeric antigen receptor (CAR) combination with is starting be addressed.Experimental Design: Fibroblast activation protein (FAP)-specific CARs different costimulatory domains, including CD28, Δ-CD28 (lacking lck binding...
The β-tropomyosin gene encodes a component of the sarcomeric thin filament. Rod-shaped dimers tropomyosin regulate actin-myosin interactions and mutations have been associated with nemaline myopathy, cap Escobar syndrome distal arthrogryposis types 1A 2B. In this study, we expand allelic spectrum β-tropomyosin-related myopathies through identification novel mutation in two clinical contexts not previously β-tropomyosin. first phenotype is core-rod uncovered by whole exome sequencing family...
Iron nutrient deficiency was investigated in leaves of hydroponically grown sugar beets (Beta vulgaris) to determine how ribulose-1,5-bisphosphate carboxylase/oxygenase (Rubisco) gene expression is affected when thylakoid components photosynthesis are diminished. Rubisco polypeptide content reduced by 60% severely iron-stressed leaves, and the reduction directly correlated chlorophyll content. The concentration protein found be regulated availability mRNAs, CO2 fixation from 45 mumol m-2 s-1...
Abstract Purpose: The insulin-like growth factor 1 (IGF1) signaling pathway is an important growth-regulatory pathway, which plays a crucial role in colorectal cancer (CRC) proliferation, differentiation, migration, angiogenesis, and apoptosis. Previous studies showed that hyperactivation of the IGF1 receptor (IGF1R) may result resistance to anti–epidermal receptor–targeted treatment. We tested whether germline variations within are associated with clinical outcome wild-type (wt) KRAS...
Fukutin-related protein ( FKRP; OMIM #606596) is critical for the appropriate glycosylation of α-dystroglycan, a component dystrophin-glycoprotein complex. The 12-kb FKRP gene composed 3 noncoding exons and 1 exon encompassing entire open reading frame.1 Mutations in cause autosomal recessive muscular dystrophy with wide range clinical severity. A common missense mutation, c.826C>A (p.L276I), has been identified. Generally, individuals homozygous this mutation have mild form limb-girdle...
Effective treatment options are still scarce for metastatic triple-negative breast cancers. An increasing interest in the mutational landscape of this disease will facilitate novel therapeutic strategies a variety Here we report case 38-year-old female patient who developed multiple lung metastasis cancer 2 years after completion local therapy. When she progressed two palliative chemotherapy lines and electroporation, next-generation sequencing revealed BRAF V600E mutation which initiated...