J. Schwaeble

Publications38
h-index20
Citations1,739
Highly Influential Citations71
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AML-associated Flt3 kinase domain mutations show signal transduction differences compared with Flt3 ITD mutations.
Activating mutations of Flt3 are found in approximately one third of patients with acute myeloid leukemia (AML) and are an attractive drug target. Two classes of Flt3 mutations occur: internal tandem… Expand
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Flt3-dependent transformation by inactivating c-Cbl mutations in AML.
In acute myeloid leukemia (AML), mutational activation of the receptor tyrosine kinase (RTK) Flt3 is frequently involved in leukemic transformation. However, little is known about a possible role of… Expand
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Constitutive activation of Akt by Flt3 internal tandem duplications is necessary for increased survival, proliferation, and myeloid transformation.
Up to 30% of patients with acute myeloid leukemia (AML) harbor internal tandem duplications (ITD) within the FLT3 gene, encoding a receptor tyrosine kinase. These mutations induce constitutive… Expand
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Identification of metastasis-associated receptor tyrosine kinases in non-small cell lung cancer.
Development of distant metastasis after tumor resection is the leading cause of death in early-stage non-small cell lung cancer (NSCLC). Receptor tyrosine kinases (RTK) are involved in tumorigenesis… Expand
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Gene therapy of chronic granulomatous disease: the engraftment dilemma.
The potential of gene therapy as a curative treatment for monogenetic disorders has been clearly demonstrated in a series of recent Phase I/II clinical trials. Among primary immunodeficiencies, gene… Expand
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Flt3 tandem duplication mutations cooperate with Wnt signaling in leukemic signal transduction.
Activating Flt3 mutations occur in about 30% of patients with acute myeloid leukemia (AML), often as in-frame internal tandem duplication (ITD) at the juxtamembrane domain of the receptor. These… Expand
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The molecular pathogenesis of acute myeloid leukemia.
The description of the molecular pathogenesis of acute myeloid leukemias (AML) has seen dramatic progress over the last years. Two major types of genetic events have been described that are crucial… Expand
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RGS2 is an important target gene of Flt3-ITD mutations in AML and functions in myeloid differentiation and leukemic transformation.
Activating fetal liver tyrosine kinase 3 (Flt3) mutations represent the most common genetic aberrations in acute myeloid leukemia (AML). Most commonly, they occur as internal tandem duplications in… Expand
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Hyperinflammation in patients with chronic granulomatous disease leads to impairment of hematopoietic stem cell functions.
BACKGROUND Defects in phagocytic nicotinamide adenine dinucleotide phosphate oxidase 2 (NOX2) function cause chronic granulomatous disease (CGD), a primary immunodeficiency characterized by… Expand
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Gene therapy with adeno-associated virus vector 5-human factor IX in adults with hemophilia B.
Gene therapy for hemophilia B aims to ameliorate bleeding risk and provide endogenous factor IX (FIX) activity/synthesis through a single treatment, eliminating the requirement for FIX concentrate.… Expand
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