A5032297413- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
- Prenatal Screening and Diagnostics
- Genomics and Chromatin Dynamics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Acute Myeloid Leukemia Research
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Cancer Genomics and Diagnostics
- Acute Lymphoblastic Leukemia research
- Chronic Myeloid Leukemia Treatments
- Chronic Lymphocytic Leukemia Research
- Animal Genetics and Reproduction
- Genomics and Rare Diseases
- Genetic diversity and population structure
- DNA Repair Mechanisms
- Advanced biosensing and bioanalysis techniques
- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Molecular Biology Techniques and Applications
- Genomics and Phylogenetic Studies
- Fish Biology and Ecology Studies
- CRISPR and Genetic Engineering
- Fish biology, ecology, and behavior
Friedrich Schiller University Jena
2016-2025
Jena University Hospital
2016-2025
Mohammed V University
2024
Institute of Human Genetics
2001-2021
Atomic Energy Commission of Syria
2021
Universidade do Estado do Rio de Janeiro
2020
Universidade Estadual de Ponta Grossa
2014-2019
Washington Center
2018
University of Washington
2018
Instituto Evandro Chagas
2018
The hepatic integration of human adipose tissue derived mesenchymal stem cells (hAT-MSCs) in vivo with or without prior differentiation to hepatocyte-like vitro was investigated.Cells, isolated either from peritoneal subcutaneous tissue, expressed cell surface markers and featured multiple lineage differentiation. Under conditions favouring hepatocyte differentiation, hAT-MSCs gained hepatocytic functions including urea formation, glycogen synthesis, cytochrome P450 enzyme activity,...
In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories the implementation and accreditation of NGS a setting. These mainly focused on Whole Exome (WES) targeted (gene panels) sequencing detecting small germline variants (Single Nucleotide Variants (SNVs) insertions/deletions (indels)). Since then, Genome (WGS) has increasingly introduced diagnosis rare diseases as WGS allows simultaneous detection SNVs,...
Background Understanding the mechanisms underlying generation of neuronal variability and complexity remains central challenge for neuroscience. Structural variation in genome is likely to be one important mechanism diversity brain diseases. Large-scale genomic variations due loss or gain whole chromosomes (aneuploidy) have been described cells normal diseased human brain, which are generated from neural stem during intrauterine period life. However, incidence aneuploidy developing its...
The multicolor-banding (MCB) approach allows the differentiation of chromosome region specific areas at band and sub-band level is based on region-specific microdissection libraries producing changing fluorescence intensity ratios along chromosomes. latter are used to assign different pseudocolors chromosomal regions. We present complete set 138 for entire human genome resulting MCB patterns all chromosomes 450-550 level. In work, creation handling detailed first time. Additionally, unique...
In this study the substantial and in part contradictory data available literature was collected concerning frequency of small supernumerary marker chromosomes (sSMC) human population general, special subpopulations. One hundred thirty-two studies on sSMC were reviewed. summary 1,288,693 cytogenetically studied cases detecting 980 compiled. 132 international surveys there no ethnic effects detected frequency. present 0.075% unselected prenatal but only 0.044% consecutively postnatal ones....
Uniparental disomy (UPD) is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. This review shows that at least one third of UPD cases emerge in connection with due a chromosomal rearrangement. Thus, additional (molecular) cytogenetic characterization essential. Up now > 1,100 detected clinical, non-tumor are reported the literature. Recently, these were summarized regularly updated, freely available online database...
Although the link between brain aging and Alzheimer's disease (AD) is a matter of debate, processes hallmarking cellular tissue senescence have been repeatedly associated with its pathogenesis. Here, we studied X chromosome aneuploidy (a recognized feature aged cell populations) in AD brain.Extended molecular neurocytogenetic analyses 10 female as well age sex matched control postmortem samples was performed by multiprobe/quantitative FISH. Additionally, rate 5 subjects were analyzed...
Abstract Most of snakes exhibit a ZZ/ZW sex chromosome system, with different stages degeneration. However, undifferentiated chromosomes and unique Y sex-linked markers, suggest that an XY system has also evolved in ancestral lineages. Comparative cytogenetic mappings revealed several genes share ancestry among X, Z chromosomes, implying ZW may have undergone transitions during serpent’s evolution. In this study, we performed comparative analysis to identify homologies across (Henophidia)...
Abstract Cytogenetic information on chordomas is rudimentary and restricted to GTG‐banding analysis of 26 cases worldwide. In this study, we present the chromosomal imbalances detected in a series 16 (10 sacrococcyeal, five sphenooccipital, one spinal) from 13 patients using comparative genomic hybridization (CGH) fluorescence situ (FISH). On average, 3.2 losses 4.2 gains were per tumor. The most common DNA copy number alterations arms 3p (50%) 1p (44%). Losses seven primary chordomas....
Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they too small to be characterized for their chromosomal origin by traditional banding techniques, but require molecular cytogenetic techniques identification. Apart from the correlation of about one third sSMC cases with specific picture, i.e. i(18p), der(22), i(12p) (Pallister Killian syndrome) and inv dup(22) (cat-eye) syndromes, most remaining have not yet been correlated syndromes....
Ataxia telangiectasia (AT) is a chromosome instability (CIN) neurological syndrome arising from DNA damage response defects due to ATM gene mutations. The hallmark of AT progressive cerebellar degeneration. However, the intrinsic cause neurodegeneration remains poorly understood. To highlight relationship between CIN and in AT, we monitored aneuploidy interphase breaks (chromosomal biomarkers genomic instability) normal diseased brain. We observed 2-3-fold increase stochastic affecting...