A5003985566- DNA Repair Mechanisms
- Carcinogens and Genotoxicity Assessment
- CRISPR and Genetic Engineering
- Genomics and Chromatin Dynamics
- Microtubule and mitosis dynamics
- BRCA gene mutations in cancer
- Chromosomal and Genetic Variations
- Lysosomal Storage Disorders Research
- Genomic variations and chromosomal abnormalities
- Ubiquitin and proteasome pathways
- Cancer-related Molecular Pathways
- Genetics and Neurodevelopmental Disorders
- DNA and Nucleic Acid Chemistry
- Hemoglobinopathies and Related Disorders
- Glycosylation and Glycoproteins Research
- Carbohydrate Chemistry and Synthesis
- Epigenetics and DNA Methylation
- Neurological diseases and metabolism
- Immunodeficiency and Autoimmune Disorders
- Protein Tyrosine Phosphatases
- RNA modifications and cancer
- Porphyrin Metabolism and Disorders
- Genetic factors in colorectal cancer
- RNA Research and Splicing
- Acute Myeloid Leukemia Research
University of Würzburg
2014-2024
Praxis für Humangenetik
2005-2020
Apollo Hospitals
2018
Friedrich-Alexander-Universität Erlangen-Nürnberg
2008
University of Groningen
2008
Universitätsklinikum Erlangen
2008
St James's University Hospital
2008
Heinrich Heine University Düsseldorf
2008
University Medical Center Groningen
2008
Rockefeller University
2007
Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) 25 patients. Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to 3-month-old baby, but are near-normal...
The WD40-containing E3 ubiquitin ligase RFWD3 has been recently linked to the repair of DNA damage by homologous recombination (HR). Here we have shown that an mutation within WD40 domain is connected genetic disease Fanconi anemia (FA). An individual presented with congenital abnormalities characteristic FA. Cells from patient carrying compound heterozygous mutations c.205_206dupCC and c.1916T>A in showed increased sensitivity interstrand cross-linking agents terms chromosomal breakage,...
Fanconi anemia (FA) is a rare bone marrow failure and cancer predisposition syndrome resulting from pathogenic mutations in genes encoding proteins participating the repair of DNA interstrand crosslinks (ICLs). Mutations 17 (FANCA-FANCS) have been identified FA patients, defining complementation groups. Here, we describe an individual presenting with typical features who deficient for ubiquitin-conjugating enzyme (E2), UBE2T. UBE2T known to interact FANCL, E3 ubiquitin-ligase component...
Fanconi anemia (FA) is a genetically and phenotypically heterogenous autosomal recessive disease associated with chromosomal instability hypersensitivity to DNA crosslinkers. Prognosis poor due progressive bone marrow failure increased risk of neoplasia, but revertant mosaicism may improve survival. Mechanisms reversion include back mutation, intragenic crossover, gene conversion compensating deletions/insertions. We describe the types reversions found in five mosaic FA patients who are...
Abstract DNA ligase IV (LigIV) deficiency was identified as the molecular basis for a severe form of combined immunodeficiency in two microcephalic siblings with cellular radiosensitivity. In one patient diagnosis made directly after birth, allowing analysis role LigIV development specific immune cells. Absolute numbers B cells were reduced 100-fold and αβ T 10-fold, whereas γδ normal. Spectratyping all three cell populations showed diverse repertoire, but sequencing IgH V(D)J junctions...