A5102858212- Acute Lymphoblastic Leukemia research
- Chronic Myeloid Leukemia Treatments
- Acute Myeloid Leukemia Research
- Childhood Cancer Survivors' Quality of Life
- Chronic Lymphocytic Leukemia Research
- Epigenetics and DNA Methylation
- melanin and skin pigmentation
- Neuroblastoma Research and Treatments
- CAR-T cell therapy research
- Hematopoietic Stem Cell Transplantation
- Lymphoma Diagnosis and Treatment
- Immune Cell Function and Interaction
- Cancer Genomics and Diagnostics
- Protein Degradation and Inhibitors
- Retinoids in leukemia and cellular processes
- Genomics and Chromatin Dynamics
- Lung Cancer Research Studies
- Legionella and Acanthamoeba research
- Cancer-related gene regulation
- PI3K/AKT/mTOR signaling in cancer
- DNA Repair Mechanisms
- Glioma Diagnosis and Treatment
- RNA regulation and disease
- Virus-based gene therapy research
- CRISPR and Genetic Engineering
Universität Hamburg
2016-2025
Kinderkrebs-Zentrum Hamburg
2014-2025
University Medical Center Hamburg-Eppendorf
2016-2025
Eppendorf (Germany)
1996-2024
Ruhr University Bochum
2022
Helios Hospital Schwerin
2018
University of Würzburg
2005-2008
Sandia National Laboratories
2008
New York University
2008
Icahn School of Medicine at Mount Sinai
2008
Microphthalmia (Mi) is a bHLHZip transcription factor that essential for melanocyte development and postnatal function. It thought to regulate both differentiated features of melanocytes such as pigmentation well proliferation/survival, based on phenotypes mutant mouse alleles. Mi activity controlled by at least two signaling pathways. Melanocyte-stimulating hormone (MSH) promotes the gene through cAMP elevation, resulting in sustained up-regulation over many hours. c-Kit up-regulates...
The transcription factor Microphthalmia-associated (MITF) is a lineage-determination factor, which modulates melanocyte differentiation and pigmentation. MITF was recently shown to reside downstream of the canonical Wnt pathway during from pluripotent neural crest cells in zebrafish as well mammalian lineage cells. Although expression many melanocytic/pigmentation markers lost human melanoma, remains intact, even unpigmented tumors, suggesting role for beyond its differentiation. A...
Various genetic conditions produce dysfunctional osteoclasts resulting in osteopetrosis or osteosclerosis. These include human pycnodysostosis, an autosomal recessive syndrome caused by cathepsin K mutation, K-deficient mice, and mitf mutant rodent strains. Cathepsin is a highly expressed cysteine protease that plays essential role the degradation of protein components bone matrix. also significant fraction breast cancers where it could contribute to tumor invasiveness. Mitf member...
The pituitary peptide α-melanocyte-stimulating hormone (α-MSH) stimulates melanocytes to up-regulate cAMP, but the downstream targets of cAMP are not well understood mechanistically. One consequence α-MSH stimulation is increased melanization attributable induction pigmentation enzymes, including tyrosinase, which catalyzes a rate-limiting step in melanin synthesis. tyrosinase promoter principle target melanocyte transcription factor Microphthalmia (Mi), for deficiency humans causes...
Acute lymphoblastic leukemia (ALL) is a malignant disease of the white blood cells. The etiology ALL believed to be multifactorial and likely involve an interplay environmental genetic variables. We performed genome-wide association study 355 750 single-nucleotide polymorphisms (SNPs) in 474 controls 419 childhood cases characterized by t(12;21)(p13;q22) — most common chromosomal translocation observed which leads ETV6–RUNX1 gene fusion. eight strongly associated SNPs were followed-up 951...
High hyperdiploidy defines the largest genetic entity of childhood acute lymphoblastic leukemia (ALL). Despite its relatively low recurrence risk, this subgroup generates a high proportion relapses. The cause and origin these relapses remains obscure. We therefore explored mutational landscape in hyperdiploid (HD) ALL with whole-exome (n=19) subsequent targeted deep sequencing 60 genes 100 relapsing 51 non-relapsing cases. identified multiple clones at diagnosis that were primarily defined...
Pediatric acute lymphoblastic leukemia (ALL) is the most common childhood cancer and leading cause of cancer-related mortality in children. T cell ALL (T-ALL) represents about 15% pediatric cases considered a high-risk disease. T-ALL often associated with resistance to treatment, including steroids, which are currently cornerstone for treating ALL; moreover, initial steroid response strongly predicts survival cure. However, cellular mechanisms underlying patients poorly understood. In this...
RAS pathway mutations have been linked to relapse and chemotherapy resistance in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL). However, comprehensive data on the frequency prognostic value of subclonal well-defined subgroups using highly sensitive quantitative methods are lacking. Targeted deep sequencing 13 genes was performed 461 BCP-ALL cases at initial diagnosis 19 diagnosis-relapse pairs. Mutations were present 44.2% patients, with 24.1% carrying a clonal mutation....
To identify children with acute lymphoblastic leukemia (ALL) at initial diagnosis who are risk for inferior response to therapy by using molecular signatures.Gene expression profiles were generated from bone marrow blasts a cohort of 99 National Cancer Institute-defined high-risk ALL treated uniformly on the Children's Oncology Group (COG) 1961 study. For prediction early response, genes that correlated status day 7 identified training set and validated test set. An additional signature was...
Three distinct immature T-cell acute lymphoblastic leukemia entities have been described including cases that express an early precursor immunophenotype or expression profile, MEF2C-dysregulated cluster based on gene analysis (immature cluster) and retain non-rearranged TRG@ loci. Early exclusively overlap with samples the of signature genes, indicating both are featuring a single disease entity. Patients lacking rearrangements represent only 40% cases, but no further evidence was found to...