A5040304418- Trace Elements in Health
- Environmental Toxicology and Ecotoxicology
- Heavy Metal Exposure and Toxicity
- Chromosomal and Genetic Variations
- Genomic variations and chromosomal abnormalities
- Iron Metabolism and Disorders
- Mercury impact and mitigation studies
- Prenatal Screening and Diagnostics
- Genomics and Chromatin Dynamics
- Parasites and Host Interactions
- Parasite Biology and Host Interactions
- Vitamin C and Antioxidants Research
- Epigenetics and DNA Methylation
- Insect Utilization and Effects
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Pharmaceutical and Antibiotic Environmental Impacts
- Aquaculture Nutrition and Growth
- Marine Biology and Environmental Chemistry
- Insect Resistance and Genetics
- Cancer-related gene regulation
- Air Quality and Health Impacts
- Nanoparticles: synthesis and applications
- DNA and Nucleic Acid Chemistry
- Aquaculture disease management and microbiota
- Cancer Genomics and Diagnostics
Universität Innsbruck
2015-2024
King's College London
2011-2015
Innsbruck Medical University
2008-2012
Hôpital l'Archet
2010
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...
Abstract β-Catenin has two major functions conserved across metazoans. It enables the interaction of classical cadherin with actin and it is main transcription factor activated by canonical Wnt pathway. In these functions, acts in patterning body axis early embroys, cell differentiation proliferation. flatworms, four β-catenin homologs have been identified planarian Schmidtea mediterranea. Functional studies revealed that only Smed-β-catenin1 can transduce signal plays a part defining...
Toxic effects of cadmium (Cd), a common soil pollutant, are still not very well understood, particularly in regard to its epigenetic impact. Therefore, the aim this study was assess DNA methylation changes and their persistence earthworm Lumbricus terrestris upon chronic low dose Cd exposure using sensitive amplification polymorphism (MSAP). Moreover, biomarker response fitness earthworms, as expression detoxification-related genes (metallothionein (MT) phytochelatin synthase (PCS))...
Metallothioneins (MTs) are a family of multifunctional proteins involved, among others, in stress response. The Cadmium (Cd)-MT gene the Roman snail (Helix pomatia), for example, encodes protein induced upon cadmium exposure. While our previous studies have demonstrated that expressed Cd-MT isoform snails assists detoxification cadmium, present work focuses on potential plasticity this response to variety environmental stressors playing crucial role specific ecological niche H. pomatia. Our...
In order to cope with changing environmental conditions, organisms require highly responsive stress mechanisms. Heavy metal is handled by metallothioneins (MTs), the regulation of which evolutionary conserved in insects and vertebrates involves binding transcription factor 1 (MTF-1) elements (MREs) positioned promoter MT genes. However, most invertebrate phyla, transcriptional activation MTs different exact mechanism still unknown. Interestingly, although MREs are typically present also gene...
Metallothioneins (MTs) are multifunctional proteins occurring throughout the animal kingdom. While expression and transcriptional regulation of MTs is well-studied in vertebrates, mechanism MT activation still unknown for most invertebrates. Therefore, we examined wMT-2 gene patterns Lumbricus rubellus L. terrestris. Transcription levels, occupation DNA binding sites, putative regulators, promotor methylation were determined. We found that does not follow a circadian pattern. However,...
Gastropods are able to withstand fluctuating availabilities of nonessential trace elements such as cadmium by induction Cd-specific metallothionein isoform (Cd-MT) expression. As in other species, the mechanism involves binding metal-regulatory transcription factors (MTF-1 or MTF-2) metal responsive (MREs) MT promoter regions. Cd-dependent Cd-MT genes was assessed quantitative real time PCR two helicid gastropods, Helix pomatia and Cantareus aspersus, over a period eight days. The regions...
Over the last years various whole genome amplification (WGA) methods have been established for genetic investigations from a limited number of cells or small quantities DNA but not molecular analysis isolated chromosomes, which is important direct investigation haplotypes rearrangements derivative chromosomes in clinical cytogenetics and oncology. Here, results pilot study GenomePlex Single Cell Kit® linker adapter PCR approach (Sigma-Aldrich, Vienna, Austria) was modified WGA glass needle...
The heavy metal cadmium (Cd) is known to modulate the immune system, challenging soil-dwelling organisms where environmental Cd pollution high. Since earthworms lack adaptive immunity, we determined Cd-related effects on coelomocytes, cellular part of innate which also site detoxification processes. A proteomics approach revealed a set immunity-related proteins as well gene products involved in energy metabolism changing response exposure. Based these results, conducted extracellular flux...
Abstract The phenotype of patients with a ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. Size structure the as well level mosaicism are important factors for clinical phenotype. Here, we report on 25‐year‐old woman short stature, minor scoliosis, fertility, appropriate psychomotor development, dysmorphisms, de novo 6. Conventional karyotyping molecular cytogenetic investigations DUSP22 6p RP1‐191N21.4 6q by new technical...
Grossmann V, Höckner M, Karmous‐Benailly H, Liang D, Puttinger R, Quadrelli Röthlisberger B, Huber A, Wu L, Spreiz Fauth C, Erdel Zschocke J, Utermann G, Kotzot D. Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite‐mediated haplotype analysis. Complex (CCRs) are rare findings in clinical cytogenetics. As a result the high risk unbalanced segregation, familial cases even rarer...
Earthworms are well-established model organisms for testing the effects of heavy metal pollution. How DNA methylation affects cadmium (Cd) detoxification processes such as expression metallothionein 2 (MT2), however, is largely unknown. We therefore exposed Lumbricus terrestris to 200 mg concentrations Cd and 5-aza-2′-deoxycytidine (Aza), a demethylating agent, sampled tissue coelomocytes, cells innate immune system, 48 h. MT2 transcription significantly increased in Cd- Cd-Aza-treated...
De novo cytogenetically balanced reciprocal non-Robertsonian translocations are rare findings in clinical cytogenetics and might be associated with an abnormal phenotype. Knowledge of the parental origin mechanisms formation is still limited. By microdissection derivative chromosomes their normal homologs from metaphases followed by microsatellite-mediated marker analysis we identified 7 cases paternal 3 maternal a cohort 10 patients de translocations. Neither nor group our study age seems...
Abstract Preservation of the soil resources stability is paramount importance for ecosystem, particularly in current era environmental change, which presents a severe pollution burden (e.g. by heavy metals) to ecosystems and its fauna. Gut microbiomes are becoming recognized as important players organism health, with comprehension their perturbations polluted environment offering new insights into nature extent metal effects on health biota. Our aim was therefore evaluate effect...
<title>Abstract</title> β-Catenin has two major functions conserved across metazoans. It enables the interaction of classical cadherin with actin at apical junctional complexes and it is main transcription factor activated by canonical Wnt pathway. In these functions, acts in cell differentiation, proliferation, determining body axis early embryos. 4 β-catenin homologs have been described highly regenerating planarian flatworm <italic>Schmidtea mediterranea</italic>. Among them, only...