RSS-Feed abonnieren
Bitte kopieren Sie die angezeigte URL und fügen sie dann in Ihren RSS-Reader ein.
https://www.thieme-connect.de/rss/thieme/de/10.1055-s-00034925.xml
PDF herunterladen
Hamostaseologie 2017; 37(03): 208-210
DOI: 10.5482/HAMO-16-07-0023
DOI: 10.5482/HAMO-16-07-0023
Highlight
Platelet granules – secretory and secretive
Plättchen-Granula – sekretorisch und geheimnisvollWeitere Informationen
Summary
The article reviews three recent publications addressing physiological and pathological aspects of platelet granules and release as well as limitations of recent screening tests for diagnosis of non-syndromic inherited D-storage pool disease (1-3).
MissingLinkText
Zusammenfassung
Der Beitrag gibt eine Übersicht über drei aktuelle Publikationen zu physiologischen und pathologischen Aspekten von Thrombozyten-Granula und -Freisetzung sowie den Limitationen der Screening-Tests zur Diagnose von nicht-syndromalen erblichen D-StoragePool-Erkrankungen (1-3).
MissingLinkText
MissingLinkText
Conflict of interest
The author declares that there is no conflict of interest.
-
References
- 1 Crescente M, Pluthero FG, Li L. et al. Intracellular trafficking, localization, and mobilization of platelet-borne thiol isomerases. Arterioscler Thromb Vasc Biol 2016; 36: 1164-1173.
- 2 Turro E, Greene D, Wijgaerts A. et al. A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies. Sci Transl Med 2016; 08: 328ra330.
- 3 Simeoni I, Stephens JC, Hu F. et al. A highthroughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. Blood 2016; 127: 2791-2803.
- 4 Golebiewska EM, Poole AW. Platelet secretion: From haemostasis to wound healing and beyond. Blood Rev 2015; 29: 153-162.
- 5 Nurden AT, Nurden P. Inherited disorders of platelet function: selected updates. J Thromb Haemost 2015; 13 (Suppl. 01) S2-9.
- 6 Sandrock-Lang K, Wentzell R, Santoso S. et al. Inherited platelet disorders. Hämostaseologie 2016; 36: 178-186.
- 7 Gunay-Aygun M, Falik-Zaccai TC, Vilboux T. et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. Nat Genet 2011; 43: 732-734.
- 8 Daly ME. Transcription factor defects causing platelet disorders. Blood Rev. 2016 In press.
- 9 Gresele P. Subcommittee on Platelet Physiology of the International Society on Thrombosis and Hemostasis. Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH. J Thromb Haemost 2015; 13: 314-322.
- 10 Stockley J, Morgan NV, Bem D. et al. Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects. Blood 2013; 122: 4090-4093.
Korrespondenzadresse:
PD Dr. rer. nat. Kerstin Jurk
Center for Thrombosis and Hemostasis (CTH)
University Medical Center Mainz Langenbeckstr. 1
55131 Mainz
Germany
-
References
- 1 Crescente M, Pluthero FG, Li L. et al. Intracellular trafficking, localization, and mobilization of platelet-borne thiol isomerases. Arterioscler Thromb Vasc Biol 2016; 36: 1164-1173.
- 2 Turro E, Greene D, Wijgaerts A. et al. A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies. Sci Transl Med 2016; 08: 328ra330.
- 3 Simeoni I, Stephens JC, Hu F. et al. A highthroughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. Blood 2016; 127: 2791-2803.
- 4 Golebiewska EM, Poole AW. Platelet secretion: From haemostasis to wound healing and beyond. Blood Rev 2015; 29: 153-162.
- 5 Nurden AT, Nurden P. Inherited disorders of platelet function: selected updates. J Thromb Haemost 2015; 13 (Suppl. 01) S2-9.
- 6 Sandrock-Lang K, Wentzell R, Santoso S. et al. Inherited platelet disorders. Hämostaseologie 2016; 36: 178-186.
- 7 Gunay-Aygun M, Falik-Zaccai TC, Vilboux T. et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. Nat Genet 2011; 43: 732-734.
- 8 Daly ME. Transcription factor defects causing platelet disorders. Blood Rev. 2016 In press.
- 9 Gresele P. Subcommittee on Platelet Physiology of the International Society on Thrombosis and Hemostasis. Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH. J Thromb Haemost 2015; 13: 314-322.
- 10 Stockley J, Morgan NV, Bem D. et al. Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects. Blood 2013; 122: 4090-4093.