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Jarosław Baran on Muck Rack

Jarosław Baran

As seen in: Nature, Canadian Journal of Infectious Diseases & Medical Microbiology
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Articles

Neutrophil extracellular traps formation driven by novel ELANE mutations in cyclic neutropenia patients

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By Magdalena Rutkowska-Zapała, Jacek Plewka, Marzena Lenart, Marta Surman, Karolina Bukowska-Strakova, Monika Rygielska, Izabela Siemińska, Katarzyna Baran, Joanna Cichy, Joanna Skrzeczynska-Moncznik, Jarosław Baran, Maciej Siedlar, Anna Szaflarska, Adrianna Gałuszka-Bulaga, Anna Kluczewska
| Nature Verified
Abstract Cyclic neutropenia (CyN) is a rare haematological disorder most often caused by mutations in the neutrophil elastase gene (ELANE). We describe three novel ELANE mutations in CyN patients and link them to impaired neutrophil extracellular trap (NET) formation. ELANE sequencing was performed using the Sanger method, and AlphaFold2 was used to visualize the impact of mutations on the structure of neutrophil elastase (NE).
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