Refine
H-BRS Bibliography
- yes (169) (remove)
Departments, institutes and facilities
- Institut für funktionale Gen-Analytik (IFGA) (169) (remove)
Document Type
- Article (112)
- Conference Object (32)
- Part of a Book (23)
- Contribution to a Periodical (1)
- Preprint (1)
Year of publication
Has Fulltext
- no (169) (remove)
Keywords
- CD21 (4)
- Arthritis (3)
- Organic aciduria (3)
- shedding (3)
- Aminoacylase (2)
- B cell activation (2)
- Canavan disease (2)
- Complement receptor (2)
- Complement receptor 2/CD21 (2)
- Content Module (2)
- Enzyme activity (2)
- Fatty acid metabolism (2)
- Fuzzy logic (2)
- GLYCTK (2)
- Inborn error of metabolism (2)
- K/BxN (2)
- Ketoacidosis (2)
- Ketolysis (2)
- Ketone body utilization (2)
- Original Story (2)
- Rheumatoid arthritis (2)
- Shedding (2)
- apoptosis (2)
- cytokine-induced killer cells (2)
- d-Glycerate kinase deficiency (2)
- d-Glyceric aciduria (2)
- edutainment (2)
- hypermedia (2)
- 3-hydroxyisobutyrate dehydrogenase (1)
- 3-hydroxyisobutyric acid dehydrogenase deficiency (1)
- 3-hydroxyisobutyric aciduria (1)
- 3D shape (1)
- 5-Oxoprolinase (1)
- 5-oxoprolinuria (1)
- AMT (1)
- ASIC (1)
- ASPA (1)
- ATF4 (1)
- ATF6 (1)
- Acute lymphoblastic leukemia (1)
- Acylpeptide hydrolase (1)
- Alkane (1)
- Aminoacylase 1 (1)
- Amylose stationary phases (1)
- Ankle thickness (1)
- Antiphospholipid syndrome (APS) (1)
- Apheresis therapy (1)
- Aspartoacylase (1)
- Augmented reality (1)
- Autism (1)
- Autoantibody (1)
- Autophagy induction (1)
- B cells (1)
- B lymphocyte (1)
- B-cell lymphoma (1)
- Background music (1)
- Bactericidal effect (1)
- Basis set (1)
- BcL-2 family (1)
- Bcl-2 (1)
- Beta-ketothiolase deficiency (1)
- Bicycle Simulator (1)
- Biomarkers stability (1)
- Biosignatures (1)
- CD146 (1)
- CD40 (1)
- CIBERSORT (1)
- CR2 (1)
- CREBBP (1)
- Carbapenem (1)
- Carboxy-terminal fragments (1)
- Cell activation (1)
- Cellulose stationary phases (1)
- Chalcogenide glass sensor (1)
- Chiral stationary phases (1)
- Chromatogramm (1)
- Chronic lymphocytic leukemia (1)
- Cognition (1)
- Collision induced dissociation (1)
- Color/Spot-Test (1)
- Complement (1)
- Complement receptor 2 (1)
- Complement receptor 2 /CD21 (1)
- Confocal microscopy (1)
- Container Structure (1)
- Cross-sensitivity (1)
- Cytokine (1)
- Cytokine-induced killer (CIK) cells (1)
- DIDMOAD (1)
- DNA (1)
- DNA typing (1)
- Daptomycin (1)
- Degraded DNA (1)
- Dehydrogenase (1)
- Diaminphenylderivat (1)
- Digital Storytelling (1)
- Diselenide bridge (1)
- Drug resistance (1)
- Dystonia (1)
- EEG (1)
- ENaC (1)
- Ectodomain shedding (1)
- Electronic tongue (1)
- Enantioselective gas chromatography (1)
- Endoplasmatic reticulum (1)
- Endothelial cells (1)
- Enzyme activity assays (1)
- Epilepsy (1)
- Ewing´s Sarcoma Family of Tumors (1)
- ExoMars (1)
- FGR (1)
- FOXP3 (1)
- Fibroblast-like synoviocytes (FLS) (1)
- Forensic genomics (1)
- Fructose (1)
- Gesamt-Exom-Sequenzierung (1)
- Glutathione (1)
- Glutathione synthetase (1)
- Glycerate (1)
- Glyceric aciduria (1)
- Glycine N-Acyltransferase (GLYAT) (1)
- Glycine conjugation (1)
- Glycogen storage disease type (1)
- Glycopeptides (1)
- HCI (1)
- HDAC inhibitor (1)
- HIBADH (1)
- HIBADH deficiency (1)
- HIF1α (1)
- HPLC Optimierung (1)
- HSD10 (1)
- Head-Mounted Displays (1)
- Health care policy (1)
- High hyperdiploidy (1)
- High performance liquid chromatography (1)
- IRE1 (1)
- Ikaros (1)
- Immersive Virtual Environments (1)
- Immersive Visualization Environment (1)
- Immunoadsorption (1)
- Inborn errors of metabolism (1)
- Inherited metabolic disorders (1)
- Ion mobility (1)
- Ionizing radiation (1)
- Isoleucine degradation (1)
- Isovaleric acidemia (1)
- Juvenile arthritis (JA) (1)
- K/BxN mouse model (1)
- K/B×N model (1)
- Ketoasidoz (1)
- Ketogenesis (1)
- Ketogenic diet (1)
- Ketone body (1)
- Ketone body synthesis (1)
- Kozak-sequence (1)
- Kriminaltechnik (1)
- Leucine degradation (1)
- Linezolid (1)
- Locomotion (1)
- Lysosome (1)
- MALDI QIT TOF MS (1)
- MOCS1 (1)
- MP2.5 (1)
- MRPP (1)
- MS/MS peptide sequencing (1)
- Macrophage (1)
- Macrophage migration inhibitory factor (1)
- Macrophages (1)
- Magnetic resonance imaging (MRI) (1)
- Mars (1)
- Mars exploration (1)
- Mast cells (1)
- Matrix metalloproteases (1)
- Media in education (1)
- Memory (1)
- Metabolic acidosis (1)
- Metabolic decompensation (1)
- Methyltransferase (1)
- Micromanipulation (1)
- Mitochondrial apoptogens (1)
- Mitochondrial outer membrane permeabilization (MOMP) (1)
- Mitochondrial tRNA (1)
- Moco deficiency (1)
- Molybdenum cofactor (1)
- Monocarboxylate transporter 1 (1)
- Motion tracking (1)
- Movement disorder (1)
- Multi-component heavy metal solution (1)
- N-acetylaspartic acid (1)
- N-acylated amino acids (1)
- Narration Module (1)
- Native mass spectrometry (1)
- Neugeborenenscreening (1)
- Neurometabolic disease (1)
- Neuropilin (1)
- Next Generation Sequencing (NGS) (1)
- Next generation sequencing (1)
- Nitrogruppe (1)
- Nonketotic hyperglycinemia (1)
- OXCT1 (1)
- Organic acids (1)
- Organische Säuren (1)
- PERK (1)
- Pain Reduction (1)
- Partikeltechnologie (1)
- Pervanadate (1)
- Pharmacogenetics (1)
- Phase II reaction (1)
- Physical exercising game platform (1)
- Polymorphism (1)
- Pregnancy (1)
- Probabilistic methods (1)
- Programmed cell death (1)
- Proteasome (1)
- Proteasome maturation (1)
- Protein-protein interaction (1)
- Pyroglutamic aciduria (1)
- Quasi equilibrium conditions (1)
- RAS (1)
- Raman and FTIR spectroscopies (1)
- Redox potential (1)
- Relapse (1)
- Restorative Virtual Environments (1)
- S-sulfocysteine (1)
- SAHA (1)
- SARS-COV-2 virus (1)
- SOS-LC (1)
- Scalable Vector Graphic (1)
- Schmauchspur (1)
- Schusswaffe (1)
- Selektives Screening (1)
- Selenocysteine (1)
- Serine (1)
- Sexual assault (1)
- Short tandem repeat (STR) (1)
- Single sperm cells (1)
- Soluble CD21 (1)
- Soluble CD23 (1)
- Splicing (1)
- Star Trek (1)
- Story Element (1)
- Stress Management (1)
- Sulfite oxidase (1)
- Survey (1)
- Synovial fluid (1)
- Systemic lupus erythomatosus (SLE) (1)
- TP53 (1)
- Tandem-Massenspektrometrie (1)
- Telemedicine (1)
- Telogen hair (1)
- Tetramerisation (1)
- Thiol antioxidants (1)
- Time–kill methodology (1)
- Transgenic mice (1)
- UI design (1)
- UPR signaling (1)
- Urea cycle defect (1)
- Urinary organic acids (1)
- Urine organic acid analysis (1)
- Urothione (1)
- User-Centered Approach (1)
- Valproic acid (1)
- Vascular permeability (1)
- Virtual Environment (1)
- Virtual Memory Palace (1)
- Virtual Reality (1)
- Virtual reality (1)
- Vitamin A acetate isomers (1)
- Western blot (1)
- Whole genome amplification (1)
- Wnt/β-catenin (1)
- Wolframin (1)
- XBP1 (1)
- acute (1)
- adaptive filters (1)
- adoptive cell transfer (1)
- affective computing (1)
- albuminuria (1)
- alkaline phosphatase (1)
- allopurinol (1)
- anorganische Schmauchspur (1)
- arthritis (1)
- autoimmune disease (1)
- autophagy signaling pathways (1)
- biochemistry (1)
- brain computer interfaces (1)
- brain tumor (1)
- cPMP (1)
- cancer (1)
- caspases (1)
- cell death (1)
- chemical pathology (1)
- chemical sensors (1)
- childhood (1)
- childhood cancer syndrome (1)
- ciclopirox olamine (1)
- colorimetry (1)
- common variable immunodeficiency (1)
- compensation (1)
- complete basis set limit (1)
- constitutional mismatch repair syndrome (1)
- cyanide (1)
- cytokine-induced killer (CIK) cells (1)
- digital storytelling (1)
- disabled people (1)
- distributed authoring (1)
- electrochemical sensor (1)
- electroretinography (1)
- emotion computing (1)
- endocytosis (1)
- endoplasmic reticulum stress (1)
- epithelial transport (1)
- erbliche Krebssyndrome (1)
- ethacrynic acid (1)
- evolution (1)
- extra column band broadening (1)
- fish gill (1)
- flow cytometry (1)
- fuel (1)
- fuzzy logic (1)
- genes (1)
- genetic testing (1)
- genetics (1)
- genetische Testung (1)
- glycerol (1)
- growth hormone (1)
- heat shock proteins (1)
- heat shock response (1)
- heavy metal (1)
- hepatocellular carcinoma (1)
- heterozygous ALPL mutation (1)
- high-performance liquid chromatography (1)
- histamine receptor (1)
- histamine receptor antagonist (1)
- histidine decarboxylase (1)
- hydrocarbon (1)
- hypermedia applications (1)
- hypogammaglobulinemia (1)
- hypophosphatasia (1)
- immunhistochemistry (1)
- immunology (1)
- immunotherapy (1)
- inorganic pyrophosphate (1)
- interferon γ (1)
- intrinsic pathway (1)
- ion-selective electrodes (1)
- isoleucine metabolism (1)
- ketogenesis defects (1)
- ketogenez defektleri (1)
- ketoliz defektleri (1)
- ketolysis (1)
- ketolysis defects (1)
- keton bodies (1)
- leukemia (1)
- life-detection (1)
- linguistic variable (1)
- linguistic variables (1)
- lipid (1)
- liquid chromatography (1)
- lung cancer (1)
- lymphocytic (1)
- mTOR (1)
- major histocompatibility complex class I polypeptide-related sequence A (MICA) (1)
- member D (NKG2D) (1)
- metabolic acidosis (1)
- metabolic effects (1)
- microdialysis (1)
- mixed-mode chromatography (1)
- momentary frequency (1)
- mp2 (1)
- multiple myeloma (MM) (1)
- mutation (1)
- natural killer group 2 (1)
- nonlinear storytelling (1)
- nucleic acids (1)
- octane (1)
- organische Schmauchspur (1)
- paediatric clinical genetics & dysmorphology (1)
- paediatric endocrinology (1)
- paediatric intensive & critical care (1)
- pharmacokinetics (1)
- phenylketonuria (1)
- phosphoethanolamine (1)
- photometry (1)
- pigments (1)
- porphyria (1)
- propan-2-ol (1)
- proteomics (1)
- proximal tubule (1)
- pyridoxal phosphate (1)
- qPCR (1)
- quantum mechanics (1)
- real-time PCR (1)
- recurrent ketoacidotic episodes (1)
- retinal degeneration (1)
- rheumatoid arthritis (1)
- sCD21 (1)
- screening (1)
- see-through display (1)
- selectivity tuning (1)
- sensitize (1)
- skin cancer (1)
- stationary phase (1)
- story authoring (1)
- superficially porous particles (1)
- surface topography (1)
- system optimization (1)
- tRNA processing (1)
- temporomandibular joint (1)
- tiglyglycine (1)
- time series processing (1)
- tumor microenvironment (1)
- tumor-infiltrating immune cells (1)
- unfolded protein response (1)
- valine catabolic pathway (1)
- van Deemter curve (1)
- water dimer (1)
- water-to-land transition (1)
- whole-exome sequencing (1)
- µCT (1)
- β-cells (1)
- γ-glutamyl cycle (1)
ENaC channels
(2023)
The Covid-19 pandemic has challenged educators across the world to move their teaching and mentoring from in-person to remote. During nonpandemic semesters at their institutes (e.g. universities), educators can directly provide students the software environment needed to support their learning - either in specialized computer laboratories (e.g. computational chemistry labs) or shared computer spaces. These labs are often supported by staff that maintains the operating systems (OS) and software. But how does one provide a specialized software environment for remote teaching? One solution is to provide students a customized operating system (e.g., Linux) that includes open-source software for supporting your teaching goals. However, such a solution should not require students to install the OS alongside their existing one (i.e. dual/multi-booting) or be used as a complete replacement. Such approaches are risky because of a) the students' possible lack of software expertise, b) the possible disruption of an existing software workflow that is needed in other classes or by other family members, and c) the importance of maintaining a working computer when isolated (e.g. societal restrictions). To illustrate possible solutions, we discuss our approach that used a customized Linux OS and a Docker container in a course that teaches computational chemistry and Python3.
Polymerase Chain Reaction
(2021)
DNA Sequencing
(2021)
Isolation of DNA and RNA
(2021)
Survival of patients with pediatric acute lymphoblastic leukemia (ALL) after allogeneic hematopoietic stem cell transplantation (allo-SCT) is mainly compromised by leukemia relapse, carrying dismal prognosis. As novel individualized therapeutic approaches are urgently needed, we performed whole-exome sequencing of leukemic blasts of 10 children with post–allo-SCT relapses with the aim of thoroughly characterizing the mutational landscape and identifying druggable mutations. We found that post–allo-SCT ALL relapses display highly diverse and mostly patient-individual genetic lesions. Moreover, mutational cluster analysis showed substantial clonal dynamics during leukemia progression from initial diagnosis to relapse after allo-SCT. Only very few alterations stayed constant over time. This dynamic clonality was exemplified by the detection of thiopurine resistance-mediating mutations in the nucleotidase NT5C2 in 3 patients’ first relapses, which disappeared in the post–allo-SCT relapses on relief of selective pressure of maintenance chemotherapy. Moreover, we identified TP53 mutations in 4 of 10 patients after allo-SCT, reflecting acquired chemoresistance associated with selective pressure of prior antineoplastic treatment. Finally, in 9 of 10 children’s post–allo-SCT relapse, we found alterations in genes for which targeted therapies with novel agents are readily available. We could show efficient targeting of leukemic blasts by APR-246 in 2 patients carrying TP53 mutations. Our findings shed light on the genetic basis of post–allo-SCT relapse and may pave the way for unraveling novel therapeutic strategies in this challenging situation.
Dysregulation of IL12 Signaling As a Novel Cause of an Autoimmune Lymphoproliferative like Syndrome
(2014)
Once aberrantly activated, the Wnt/βcatenin pathway may result in uncontrolled proliferation and eventually cancer. Efforts to counter and inhibit this pathway are mainly directed against βcatenin, as it serves a role on the cytoplasm and the nucleus. In addition, speciallygenerated lymphocytes are recruited for the purpose of treating liver cancer. Peripheral blood mononuclear lymphocytes are expanded by the timely addition of interferon γ, interleukin (IL)1β, IL2 and anticluster of differentiation 3 antibody. The resulting cells are called cytokineinduced killer (CIK) cells. The present study utilised these cells and combine them with drugs inhibiting the Wnt pathway in order to examine whether this resulted in an improvement in the killing ability of CIK cells against liver cancer cells. Drugs including ethacrynic acid (EA) and ciclopirox olamine (CPX) were determined to be suitable candidates, as determined by previous studies. Drugs were administered on their own and combined with CIK cells and then a cell viability assay was performed. These results suggest that EAtreated cells demonstrated apoptosis and were significantly affected compared with untreated cells. Unlike EA, CPX killed normal and cancerous cells even at low concentrations. Subsequent to combining EA with CIK cells, the potency of killing was increased and a greater number of cells died, which proves a synergistic action. In summary, EA may be used as an antihepatocellular carcinoma drug, while CPX possesses a high toxicity to cancerous as well as to normal cells. It was proposed that EA should be integrated into present therapeutic methods for cancer.
Amaç: Keton cisim oluşumu (ketogenez) bozuklukları; mitokondriyel 3-hidroksi-3metil glutaril CoA sentaz (Mhs) ve 3-hidroksi-3-metil glutaril CoA liyaz (HL) enzim eksiklikleri sonucu oluşur. Keton cisim yıkımı (ketoliz) bozuklukları ise suksinil CoA: 3 oksoasit CoA transferaz (SCOT) ve asetoasetil CoA thiolaz-beta ketotiolaz (MAT) enzim eksiklikleri sonucu oluşmaktadır. Keton metabolizma bozukluğu tanısıyla izlenen hastaların klinik ve laboratuvar bulguları ile değerlendirilmesi amaçlandı.
Yöntem: Keton metabolizması bozukluğu tanısıyla izlenen hasta verileri retrospektif olarak incelendi.
Bulgular: Dört hastada HL eksikliği, 3 hastada MAT eksikliği ve 2 hastada SCOT eksikliği tanısı mevcuttu. Hastaların ortanca yaşı 5 yıl (6 ay-15,5 yıl), ilk metabolik dekompanzasyon atak yaşı ortalama 7,7 ay (22 gün-19 ay) idi. MAT eksikliği olan bir hasta, kardeş taraması ile asemptomatik dönemde tanı aldı. İki hastada spastik tetraparezi gibi ağır nörolojik defisit gelişti. Dekompanzasyon ataklarının beslenememe, kusma ve gastroenterit gibi infeksiyon sonrası geliştiği görüldü.
Sonuç: Açıklanamayan metabolik asidoz atakları durumunda keton metabolizma bozuklukları akılda tutulmalıdır. Akut dekompanzasyon değişik yaşlarda ortaya çıkabilir, klinik şiddeti değişken olabilir. Erken tanı ve uygun tedavi mortalite ve morbidite açısından çok önemlidir.