Publications by authors named "Till Koenig"
Article Synopsis
- In 2008, guidelines were established for researching autophagy, which has since gained significant interest and new technologies, necessitating regular updates to monitoring methods across various organisms.
- The new guidelines emphasize selecting appropriate techniques to evaluate autophagy while noting that no single method suits all situations; thus, a combination of methods is encouraged.
- The document highlights that key proteins involved in autophagy also impact other cellular processes, suggesting genetic studies should focus on multiple autophagy-related genes to fully understand these pathways.
The original version of this Article contained an error in the spelling of the author Siddharth Banka, which was incorrectly given as Siddhart Banka. This has now been corrected in both the PDF and HTML versions of the Article.
View Article and Find Full Text PDFPurpose: Contiguous gene deletions are known to cause several neurodevelopmental syndromes, many of which are caused by recurrent events on chromosome 16. However, chromosomal microarray studies (CMA) still yield copy-number variants (CNVs) of unknown clinical significance. We sought to characterize eight individuals with overlapping 205-kb to 504-kb 16p13.
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- Ataxia-telangiectasia (A-T) is a rare genetic disorder caused by mutations in the ATM gene, leading to neurological symptoms, increased infections, and higher cancer risk.
- A study of 240 A-T patients in France showed a 20-year survival rate of 53.4%, with patients having total gene loss (null mutations) facing worse outcomes due to earlier cancer onset compared to those with partial mutations (hypomorphic mutations).
- Findings suggest that the patient's ATM genotype affects both morbidity and mortality, highlighting the potential for tailored prognostic and therapeutic approaches.
Candidiasis, aspergillosis and cryptococcosis are the most common fungal infections in transplant recipients. However other fungal infections have been reported. Mucormycosis, Scedosporium infections, fusariosis and trichosporonosis represent the largest part of these rare mycosis.
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