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Biomedical subjects

E Bartnik

Publications and source records attributed to E Bartnik.

57 records · Page 4Linked to original sources

Unusual evolutionary conservation of 5S rRNA pseudogenes in Aspergillus nidulans: similarity of the DNA sequence associated with the pseudogenes with the mouse immunoglobulin switch region.

All Aspergillus nidulans 5S rRNA pseudogenes known so far are the result of integration of an approx. 0.2-kbp-long DNA sequence into the 5S rRNA genes. This sequence, called block C, is present in at least five copies in the A. nidulans genome and seems to be associated either with 5S rRNA genes or pseudogenes. In contrast to the 78% sequence conservation of the C-block in pseudogenes, the truncated 5' halves of the pseudogenes are very highly conserved (96.9-100%). We postulate that the 5S rRNA pseudogenes are still a subject of concerted evolution. The C-block sequence shows similarity to the switch region of the mouse heavy chain immunoglobulin gene. A characteristic motif GGGTGAG is repeated several times in both sequences; the sequence conservation is 63%.

Animals↗

[cDNA-microarrays in cartilage research - functional genomics of osteoarthritis].

Functional genomics represents a new challenging approach in order to analyze complex diseases such as osteoarthritis on a molecular level. The characterization of the molecular changes of the cartilage cells, the chondrocytes, enables a better understanding of the pathomechanisms of the disease. In particular, the identification and characterization of new target molecules for therapeutic intervention is of interest. Also, potential molecular markers for diagnosis and monitoring of osteoarthritis contribute to a more appropriate patient management. The DNA-microarray technology complements (but does not replace) biochemical and biological research in new disease-relevant genes. Large-scale functional genomics will identify molecular networks such as yet identified players in the anabolic-catabolic balance of articular cartilage as well as disease-relevant intracellular signaling cascades so far rather unknown in articular chondrocytes. However, at the moment it is also important to recognize the limitations of the microarray technology in order to avoid over-interpretation of the results. This might lead to misleading results and prevent to a significant extent a proper use of the potential of this technology in the field of osteoarthritis.

Cartilage↗

[Mitochondrial diseases--causes and diagnosis].

Increasing numbers of diseases due to disturbances in mitochondrial DNA (mtDNA) are being discovered. Mutations in mtDNA mainly cause malfunctioning of muscle and nerve cells. The most common diseases and their molecular diagnosis are briefly described.

DNA, Mitochondrial↗