Rinske van Oorschot from the Van der Reijden group (Laboratory Hematology, Dept Laboratory Medicine), theme Cancer development and immune defense, has published two papers on the transcription factor GFI1B in Haematologica.Earlier work from the Van der Reijden group showed that an inherited GFI1B mutation severely disturbed the formation of megakaryocytes and their production of blood platelets. Together with the Dept of Molecular Biology, Radboud University and Sanquin Blood Supply, Amsterdam, Rinske now shows that mutant GFI1B functions in a dominant-negative manner by squelching the chromatin modifying CoREST complex, making it unavailable for wild type GFI1B1. Proteomics on megakaryocytes generated from patient-derived induced pluripotent stem cells identified a plethora of pathways regulated by GFI1B.
In another study, Rinske shows together with groups from Leuven, Belgium and Cambridge, U.K., the functional effects of new inherited GFI1B variants observed in cases with unexplained bleedings2. This work identifies novel important functional domains in GFI1B. Together, Rinske's studies shed important light on the function of GFI1B in the formation of platelets and bleeding disorders.
- Molecular mechanisms of bleeding disorder-associated GFI1BQ287* mutation and its affected pathways in megakaryocytes and platelets: Van Oorschot R et al, Haematologica, January 2019
- Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses: Van Oorschot R et al, Haematologica, December 2018
Related news items
High school science education program Immunology and Programming23 April 2019
International PhD candidates Joshua Gillard, Dorien Feyaerts and Yessica Rodriguez of the Laboratory of Medical Immunology (LMI), recently developed and implemented an exciting 4-day science challenge to teach vaccinology, immunology, and programming at the Lorenz Lyceum high school in Arnhem.read more
Step-up approach vs open necrosectomy for necrotizing pancreatitis18 April 2019
Another publication of the successful Dutch collaborative group on pancreatitis research with substantial contribution from Radboudumc researchers, Harry van Goor and Kees van Laarhoven.read more
Prophylactic antibiotics reduce hospitalisations and cost in head and neck cancer patients18 April 2019
In European journal of cancer Janneke Ham and colleagues showed that prophylactic antibiotics in locally advanced head and neck cancer patients treated with chemoradiotherapy did not reduce the incidence of (aspiration) pneumonias, but did reduce hospitalisations and tended to be cost-effective.read more
Nontuberculous mycobacteria and fungal co-infections Bonnie and Clyde?18 April 2019
In The European respiratory journal Jakko van Ingen and Sanne Zweijpfenning showed that 40% of patients diagnosed with nontuberculous mycobacterial pulmonary disease also meet diagnostic criteria for chronic pulmonary aspergillosis.read more
ESCMID award for groundbreaking studies on NTM disease18 April 2019
Jakko van Ingen received the ESCMID Young Investigator Award for his groundbreaking work on nontuberculous mycobacterial disease.read more