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Apoptosis and platelet biogenesis: A new piece of information on a debated topic
- Thrombocytopenia 4 (THC4) is an extremely rare form of inherited thrombocytopenia caused by mutations in the gene encoding cytochrome c (CYCS). The mechanism leading to reduced blood platelets remains unclear, although an unrestrained megakaryocyte apoptosis as a consequence of CYCS alterations has been proposed. The report of a TCH4 family with a novel CYCS variant unravels clues on the pathogenesis of this disorder and spotlights back on the still‐discussed role of apoptosis in human platelet and megakaryocyte physiology. Commentary on: Štika et al. A novel thrombocytopenia‐4‐causing CYCS gene variant decreases caspase activity: Three‐generation study. Br J Haematol 2024; 205: 2450‐2458.
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| Author: | Carlo ZaninettiORCiD, Andreas GreinacherORCiD |
|---|---|
| URN: | urn:nbn:de:gbv:9-opus-138923 |
| DOI: | https://doi.org/10.1111/bjh.19794 |
| ISSN: | 0007-1048 |
| Parent Title (English): | British Journal of Haematology |
| Publisher: | Wiley |
| Place of publication: | Hoboken, NJ |
| Document Type: | Article |
| Language: | English |
| Date of Publication (online): | 2024/09/27 |
| Date of first Publication: | 2024/12/12 |
| Release Date: | 2025/10/22 |
| Tag: | molecular analysis; platelet disorders; thrombocytopenia |
| Volume: | 205 |
| Issue: | 6 |
| Page Number: | 3 |
| First Page: | 2139 |
| Last Page: | 2141 |
| Faculties: | Universitätsmedizin / Institut für Transfusionsmedizin |
| Collections: | weitere DFG-förderfähige Artikel |
| Licence (German): |  Creative Commons - Namensnennung-Nicht kommerziell-Keine Bearbeitung 4.0 International |