A5030347392- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Metabolism and Genetic Disorders
- Amino Acid Enzymes and Metabolism
- Biomedical and Chemical Research
- Porphyrin Metabolism and Disorders
- Chronic Myeloid Leukemia Treatments
- Kruppel-like factors research
- Acute Myeloid Leukemia Research
- Renal function and acid-base balance
- Heme Oxygenase-1 and Carbon Monoxide
- Biotin and Related Studies
- Platelet Disorders and Treatments
- Erythrocyte Function and Pathophysiology
- Eosinophilic Disorders and Syndromes
- Electrolyte and hormonal disorders
- Blood disorders and treatments
- Hemoglobinopathies and Related Disorders
- Hemoglobin structure and function
- Mass Spectrometry Techniques and Applications
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Cancer Genomics and Diagnostics
- Trace Elements in Health
- Glycosylation and Glycoproteins Research
Ludwig-Maximilians-Universität München
2013-2024
Praxis für Hämatologie und Onkologie
2002-2022
European Patent Organisation
2021
Universität Bayern
2020
München Klinik
1975-2015
Praxis (United States)
2007
Humboldt-Universität zu Berlin
1998-2004
Charité - Universitätsmedizin Berlin
1998-2004
Molecular Oncology (United States)
2000
LMU Klinikum
1992-1998
Aquagenic pruritus (AP) is a symptom typical for polycythemia vera, but very little known about its exact frequency, characteristics, influence on quality of life, and proper treatment. Therefore, we investigated these aspects in large cohort German patients with vera using patient directed questionnaire. Our analysis revealed that 301 441 analyzed suffered from AP. In 64.8%, AP occurred average 2.9 years prior to diagnosis vera. Only 15.4% did this lead hematological investigation. occurs...
To further characterize JAK2 exon 12 mutations, we performed molecular screening in 409 patients with polycythemia vera or unclear erythrocytosis unmutated JAK2V617. The frequency of JAK2exon12 mutations was 10/63 (15.9%) PV but only 5/346 (1.4%) the cases. Nine different including four new types (D544-L545del, H538DK539LI540S, H538-K539del, V536-F547dup) were detected. In 2 cases found evidence for presence cells homozygous mutated JAK2exon12. As this case 2/15 (13%) homozygosity seemed to...
Abstract We studied expression and functional characteristics of the insulin‐ insulin‐like‐growth‐factor‐1(IGF‐1) receptors in human renal carcinoma. Ligand‐binding properties tyrosine‐kinase activity both receptors, as well 2 isoforms insulin receptor (HIR‐A ‐B) were analyzed carcinoma normal adjacent kidney tissue 8 adult patients. Partially purified IGF‐I from cell possessed identical affinities for their ligands. Renal carcinoma, however, contained 3‐ to 4‐fold more specific...
Givosiran is a novel approach to treat patients with acute intermittent porphyrias (AIP) by silencing of ∂-ALA-synthase 1, the first enzyme heme biosynthesis in liver. We included two Envision study who responded clinically well this treatment. However, both patients, therapy had be discontinued because severe adverse effects: One patient (A) developed local injection reactions which continued spread all over her body increasing number injections and eventually caused systemic allergic...
Homocysteine is a sulfur-containing amino acid formed in the intermediary metabolism of methionine. Amino and heme biosynthesis pathways are complexly intertwined. Plasma homocysteine elevation, hyperhomocysteinemia (HHcy), has been reported patients with acute hepatic porphyria (AHP), family rare genetic disorders caused by defects biosynthesis.This article summarizes published case series which givosiran, subcutaneously administered small interfering RNA approved for AHP treatment,...
Epidermal growth factor (EGF) has been purified from human milk. The purification was monitored with a placental membrane radioreceptor assay using murine salivary epidermal I (mEGF I) as competitive ligand and achieved exclusively by the use of reverse‐phase liquid chromatography (RPLC). sequential preparative, semipreparative analytical RPLC on an octylsilica support solvent systems different solute selectivity such pyridine formate, triethylammonnium phosphate or perfluorocarbonic acids...
Extracellular vesicles (EVs), e.g., exosomes and microvesicles, are one of the main networks intercellular communication. In myeloproliferative neoplasms, such as polycythemia vera (PV), excess EVs originating from overabundant blood cells can directly contribute to thrombosis through their procoagulant activity. However, proteomic composition these in PV patients has not been investigated before. this work, we examined serum comparison healthy controls. We processed EV-enriched samples...
Abstract: We report on our treatment experience in Germany with anagrelide, a novel platelet lowering agent, 48 patients (27 females, 21 males) essential thrombocythaemia. Their age was between 19 and 79 yr when anagrelide therapy initiated. Sixteen were previously untreated, 15 pretreated hydroxyurea 17 had multiple pretreatments. Forty‐one of the either microvascular, thromboembolic or bleeding complications. About 50% received low dose acetylsalicylic acid as an adjunct. count prior to...
Although a great deal is known about the structure of nerve growth factor (NGF) and its role in development maintenance sensory sympathetic neurons, number significant questions remain to be answered concerning both physiological sources mechanisms actions. Two main approaches first question, identity tissues or cells that produce NGF, have involved specific highly sensitive radioimmunoassays for NGF (Thoenen et al., this volume) isolation cDNA mRNA (Scott al. 1983; Ullrich 1983). It...
Severe hereditary coagulation factor XIII deficiency is a rare homozygous bleeding disorder affecting one person in every two million individuals. In contrast, heterozygous more common, but usually not associated with severe hemorrhage such as intracranial or hemarthrosis. most cases, the disease caused by F13A gene mutations. Causative mutations F13B are rarer.We analyzed ten index patients and three relatives for activity using photometric assay sequenced their genes. Additionally,...
We have characterized and analyzed IGF-I- insulin-stimulated cell growth, receptor binding, autophosphorylation in the human leukemic line HL-60. IGF-I-stimulated growth occurred at low (5 ng/ml) insulin stimulated only high (500 concentrations. Binding of 125I-IGF-I to partially purified plasma membrane proteins followed characteristics IGF-I binding. as determined by chemical cross-linking, a 145-kDa protein. IGF-I, well insulin, 105-kDa band (pp105), but we could not detect 95-kDa...
Hereditary erythrocytosis is a rare hematologic disorder characterized by an excess of red blood cell production. Here we describe European collaborative study involving collection 2,160 patients with sequenced in ten different laboratories. We focused our on the EGLN1 gene and identified 39 germline missense variants including one deletion 47 probands. encodes PHD2 prolyl 4-hydroxylase, major inhibitor hypoxia-inducible factor. performed comprehensive to evaluate causal role variants: (i)...