Publications by authors named "Karolin Kleemann"
Article Synopsis
- * The 8th International RASopathies Symposium highlighted global cooperation in clinical care and research, focusing on building diverse patient groups and sharing discoveries to prepare for future interventional trials.
- * The event included presentations from various stakeholders, including scientists and self-advocates, aimed at bridging knowledge gaps and fostering long-term research and advocacy partnerships to improve health outcomes for those with RASopathies.
Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues.
Saeideh Nakhaei-Rad Fereshteh Haghighi Farhad Bazgir Julia Dahlmann Alexandra Viktoria Busley Karolin Kleemann
Commun Biol
June 2023
Article Synopsis
- Noonan syndrome (NS), a common genetic disorder linked to the RAS-MAPK pathway, is associated with variants like the Ser257Leu substitution in RAF1, which is particularly connected to severe heart disease (HCM).
- Researchers created three-dimensional cardiac models from stem cells of NS patients with specific RAF1 mutations to study the relationship between these genetic changes and heart tissue abnormalities.
- Findings showed that the mutated RAF1 caused changes in heart cell structure, shortening of key protein elements, and impaired heart function, but these issues could partially be reversed by inhibiting the MEK pathway.
Lung adenocarcinoma (LUAD) is the most prevalent subtype of non-small cell lung cancer. Despite the development of novel targeted and immune therapies, the 5-year survival rate is still only 21%, indicating the need for more efficient treatment regimens. Lysine-specific demethylase 1 (LSD1) is an epigenetic eraser that modifies histone 3 methylation status, and is highly overexpressed in LUAD.
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