Publications by authors named "Gabriele Duetsch"
The rd1 natural mutant is one of the first and probably the most commonly studied mouse model for retinitis pigmentosa (RP), a severe and frequently blinding human retinal degeneration. In several decades of research, the link between the increase in photoreceptor cGMP levels and the extremely rapid cell death gave rise to a number of hypotheses. Here, we provide clear evidence that the presence of cyclic nucleotide gated (CNG) channels in the outer segment membrane is the key to rod photoreceptor loss.
View Article and Find Full Text PDFPurpose: SNPs in chromosomal region 10q26 harboring PLEKHA1, ARMS2, and Htra1 showed the strongest association with age-related macular degeneration. Recent evidence suggests that in patients homozygous for the risk allele, the lack of synthesis of the poorly characterized ARMS2 is causative of this disorder. The present study was undertaken to gain an understanding of the genuine (patho)physiological role of this protein.
View Article and Find Full Text PDFArticle Synopsis
- The STAT6 gene, found on chromosome 12q13-q24, is a promising candidate for asthma and inflammatory diseases, leading to a study on its exons and neighboring regions.
- Researchers identified 13 single nucleotide polymorphisms (SNPs) and a new allele (A5) in a GT repeat but found no link to asthma, though some SNPs showed weak associations with total IgE levels.
- The study concluded that the STAT6 gene likely plays a significant role in eosinophilia and total IgE level changes rather than directly causing asthma.