A5086508716- Forensic and Genetic Research
- Molecular Biology Techniques and Applications
- Cleft Lip and Palate Research
- Dental Implant Techniques and Outcomes
- Genomics and Phylogenetic Studies
- RNA modifications and cancer
- Genetic diversity and population structure
- Identification and Quantification in Food
- Genetic Associations and Epidemiology
- Periodontal Regeneration and Treatments
- Reconstructive Surgery and Microvascular Techniques
- Telomeres, Telomerase, and Senescence
- Head and Neck Cancer Studies
- Facial Trauma and Fracture Management
- Mitochondrial Function and Pathology
- Craniofacial Disorders and Treatments
- RNA and protein synthesis mechanisms
- Genomics and Rare Diseases
- Liver Disease Diagnosis and Treatment
- Tracheal and airway disorders
- Forensic Anthropology and Bioarchaeology Studies
- Metabolomics and Mass Spectrometry Studies
- Genomic variations and chromosomal abnormalities
- Yersinia bacterium, plague, ectoparasites research
- Prostate Cancer Treatment and Research
FH Kärnten
2018-2024
University Hospital Leipzig
2021-2022
Innsbruck Medical University
2010-2021
Universität Innsbruck
2003-2021
Leipzig University
2021
RWTH Aachen University
2016-2019
Universitätsklinikum Aachen
2017-2018
University of Cambridge
2010
Krankenhaus Bruneck
2010
Rigshospitalet
2008
Mitochondrial DNA (mtDNA) profiles can be classified into phylogenetic clusters (haplogroups), which is of great relevance for evolutionary, forensic and medical genetics. With the extensive growth underlying tree summarizing published mtDNA sequences, manual process haplogroup classification would too time-consuming. The previously tool HaploGrep provided an automatic way to address this issue. Here, we present completely updated version 2 offering several advanced features, including a...
An ongoing source of controversy in mitochondrial DNA (mtDNA) research is based on the detection numerous errors mtDNA profiles that led to erroneous conclusions and false disease associations. Most these controversies could be avoided if samples' haplogroup status would taken into consideration. Knowing affiliation a critical prerequisite for studying mechanisms human evolution discovering genes involved complex diseases, validating phylogenetic consistency using classification an important...
Telomeres are essential to preserve the integrity of genome. Critically short telomeres lead replicative cell senescence and chromosomal instability may thereby increase cancer risk.To determine association between baseline telomere length incident mortality.Leukocyte was measured by quantitative polymerase chain reaction in 787 participants free at 1995 from prospective, population-based Bruneck Study Italy.Incident mortality over a follow-up period 10 years (1995-2005 with rate 100%).A...
Objective— To determine the association between leukocyte telomere length (TL) and atherosclerosis its clinical sequelae stroke myocardial infarction. Methods Results— Within scope of prospective population-based Bruneck Study, TL was measured by quantitative polymerase chain reaction in 800 women men aged 45 to 84 years (in 1995). The manifestation cardiovascular disease (CVD) (1995–2005) progression (1995–2000) were carefully assessed. shorter than (age-adjusted mean [95% CI], 1.41 [1.33...
Next generation sequencing (NGS) allows investigating mitochondrial DNA (mtDNA) characteristics such as heteroplasmy (i.e. intra-individual sequence variation) to a higher level of detail. While several pipelines for analyzing heteroplasmies exist, issues in usability, accuracy results and interpreting final data limit their usage. Here we present mtDNA-Server, scalable web server the analysis mtDNA studies any size with special focus on usability well reliable identification quantification...
Background Telomeres play a key role in the maintenance of chromosome integrity. Short telomeres are linked to age-associated diseases and cancer. Our aim was determine decrease rate relative telomere length (RTL) over 10 years whether this influenced by age, sex smoking behaviour. Methods We compared RTL 510 sample pairs from longitudinal population-based Bruneck Study, which were collected 1995 recollected 2005, additionally determined 159 participants who died during follow-up....
Large skull defects as a result of craniectomies due to cerebral insults, trauma, or tumors create functional and aesthetic disturbances for the patient. Cranioplasty with implants in these cases are an alternative autogenous bone transplantation. In our clinic, customized titanium optima poly-ether-ether ketone (PEEK) used reconstruct craniectomy defects. To compare two materials we investigated structural changes fixed sintered polyamide model under mechanical stress four simplified...
Abstract Objectives The aim of this study was to compare three‐dimensional alterations following the use autogenous versus allogeneic onlay grafts for augmentation at single tooth defects. Materials and methods Alveolar bone width specific implant sites were assessed using sagittal cross‐sectional CBCT images prior grafting three subsequent time points. Twenty‐one patients received blocks harvested from retromolar region another 21 freeze‐dried cancellous blocks. Results vertical horizontal...
Abstract Background The degree of metal binding specificity in metalloproteins such as metallothioneins (MTs) can be crucial for their functional accuracy. Unlike most other animal species, pulmonate molluscs possess homometallic MT isoforms loaded with Cu + or Cd 2+ . They have, so far, been obtained native metal-MT complexes from snail tissues, where they are involved the metabolism ion species bound to respective isoform. However, it has not yet discerned if specific occupation is result...
To the Editor: Telomeres are nucleoprotein structures that cap ends of chromosomes and confer chromosomal stability. Telomere shortening to a critical length due extensive DNA replication or oxidative stress facilitates genomic mutations may induce malignant transformation.1
Background— High-density lipoprotein cholesterol (HDLC) is a strong risk factor for atherosclerosis and assumed to be under considerable genetic control. We aimed identify gene regions that influence HDLC levels by genome-wide association analysis in the population-based KORA (Cooperative Health Research Region of Augsburg) study. Methods Results— In S3/F3 (n=1643), we analyzed 377 865 quality-checked single-nucleotide polymorphisms (SNPs; 500K, Affymetrix, Santa Clara, Calif), complemented...
High serum uric acid levels lead to gout and have been reported be associated with an increased risk of hypertension, obesity, metabolic syndrome, type 2 diabetes, cardiovascular disease. Recently, the putative fructose transporter SLC2A9 was influence levels. The aim present study examine association four single nucleotide polymorphisms within this gene determine whether is modified by obesity.
Phantom mutations are systematic artifacts generated in the course of sequencing process. Contra common belief these artificial nearly ubiquitous results, albeit at frequencies that may vary dramatically. The amount depends not only on sort automated sequencer and chemistry employed, but also other lab-specific factors. An experimental study executed four samples under various combinations conditions revealed a number phantom occurring same sites mitochondrial DNA (mtDNA) repeatedly. To...
Myanmar is the largest country in mainland Southeast Asia with a population of 55 million people subdivided into more than 100 ethnic groups. Ruled by changing kingdoms and dynasties lying on trade route between India China, was influenced numerous cultures. Since its independence from British occupation, tensions ruling Bamar minorities increased. Our aim to search for genetic footprints Myanmar's geographic, historic sociocultural characteristics contribute picture human colonization...
Background Oral squamous cell carcinoma (OSCC) is mainly caused by smoking and alcohol abuse shows a five-year survival rate of ~50%. We aimed to explore the variation somatic mitochondrial DNA (mtDNA) mutations in primary oral tumors, recurrences metastases. Methods performed an in-depth validation mtDNA next-generation sequencing (NGS) on Illumina HiSeq 2500 platform for its application cancer tissues, with goal detect low-level heteroplasmies avoid artifacts. Therefore we genotyped genome...
ABSTRACT Mycobacterium caprae , a recently defined member of the tuberculosis complex, causes among animals and, to limited extent, in humans several European countries. To characterize M. comparison with other complex members and evaluate genotyping methods for this species, we analyzed 232 isolates by mycobacterial interspersed repetitive unit (MIRU) spoligotyping. The originated from 128 distinct epidemiological settings 10 countries, spanning period 25 years. We found 78 different MIRU...
Abstract Haplogroup H (hg H) includes about 40–50% of the West Eurasian mitochondrial DNA (mtDNA) samples investigated so far. In order to enhance discrimination within this haplogroup we selected 45 coding region SNPs that allow ascribe main phylogenetic branches super hg HV (that embraces and, in particular, sublineages with a much finer resolution than previous studies. SNP selection was carried out using most up‐to‐date available literature on population and forensic genetics extended by...
<h3>Background</h3> Two recent genome-wide association studies identified the liver expressed transmembrane protein adiponutrin to be associated with related phenotypes such as non-alcoholic fatty disease and function enzymes. These associations were not uniformly reported for various ethnicities. The aim of this study was investigate a common non-synonymous variant within (rs738409, exon 3) parameters in three independent West Eurasian populations including total 4290 participants....