Publications by authors named "Thomas Haeussler"
Background: Patients with lissencephaly typically present with severe psychomotor retardation and drug-resistant seizures. The aim of this study was to characterize the epileptic phenotype in a genotypically and radiologically well-defined patient cohort and to evaluate the response to antiseizure medication (ASM). Therefore, we retrospectively evaluated 47 patients of five genetic forms (, , , , ) using family questionnaires, standardized neuropediatric assessments, and patients' medical reports.
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- Inclusion body myositis (IBM) is a common inflammatory muscle disease in older adults that currently has no effective treatment and presents a mix of inflammatory and degenerative characteristics.
- Researchers used advanced sequencing techniques to analyze muscle biopsies from IBM patients, finding unique patterns of cellular changes compared to other muscle diseases and non-inflammatory muscles.
- Key findings reveal a loss of specific muscle fibers, increased immune cell presence, and markers of cell stress and protein degradation, highlighting potential mechanisms behind muscle degeneration in IBM and pointing to vulnerabilities in type 2 muscle fibers.
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- Reduced levels of the TBX5 transcription factor lead to significant disruptions in gene pathways important for heart development and function during the differentiation of cardiomyocytes from human induced pluripotent stem cells (iPSCs).
- Through spatial transcriptomic mapping, researchers found that many genes influenced by TBX5 exhibit specific expression patterns related to different heart chambers, highlighting the complexity of heart development.
- The study also confirmed a genetic interaction between Tbx5 and Mef2c linked to heart defects in mice, suggesting that understanding TBX5 dosage could help identify potential gene regulatory networks implicated in congenital heart disease (CHD).
Species interactions have long been predicted to increase in intensity toward the tropics and low elevations because of gradients in climate, productivity, or biodiversity. Despite their importance for understanding global ecological and evolutionary processes, plant-animal interaction gradients are particularly difficult to test systematically across large geographic gradients, and evidence from smaller, disparate studies is inconclusive. By systematically measuring postdispersal seed predation using 6995 standardized seed depots along 18 mountains in the Pacific cordillera, we found that seed predation increases by 17% from the Arctic to the Equator and by 17% from 4000 meters above sea level to sea level.
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