Case Reports
doi: 10.1111/bjh.14439.
Epub 2016 Nov 23.
A new mutation of ANO6 in two familial cases of Scott syndrome
Affiliations
- PMID: 27879994
- DOI: 10.1111/bjh.14439
Item in Clipboard
Case Reports
A new mutation of ANO6 in two familial cases of Scott syndrome
Br J Haematol.
2018 Mar.
Free article
No abstract available
Keywords: ANO6; Anoctamin 6; Scott syndrome; inherited platelet disorder; scramblase.
Similar articles
-
Gene of the issue: ANO6 and Scott Syndrome.Platelets. 2020 Oct 2;31(7):964-967. doi: 10.1080/09537104.2019.1693039. Epub 2019 Nov 20. Platelets. 2020. PMID: 31746257 No abstract available.
-
Survival protein anoctamin-6 controls multiple platelet responses including phospholipid scrambling, swelling, and protein cleavage.FASEB J. 2016 Feb;30(2):727-37. doi: 10.1096/fj.15-280446. Epub 2015 Oct 19. FASEB J. 2016. PMID: 26481309
-
Functional Interdependence of Anoctamins May Influence Conclusions from Overexpression Studies.Int J Mol Sci. 2024 Sep 17;25(18):9998. doi: 10.3390/ijms25189998. Int J Mol Sci. 2024. PMID: 39337485 Free PMC article.
-
Molecular functions of anoctamin 6 (TMEM16F): a chloride channel, cation channel, or phospholipid scramblase?Pflugers Arch. 2014 Mar;466(3):407-14. doi: 10.1007/s00424-013-1305-1. Epub 2013 Jun 8. Pflugers Arch. 2014. PMID: 23748496 Review.
-
Platelet membrane phospholipid asymmetry: from the characterization of a scramblase activity to the identification of an essential protein mutated in Scott syndrome.J Thromb Haemost. 2011 Oct;9(10):1883-91. doi: 10.1111/j.1538-7836.2011.04478.x. J Thromb Haemost. 2011. PMID: 21958383 Review.
Cited by
-
Regulation of phospholipid distribution in the lipid bilayer by flippases and scramblases.Nat Rev Mol Cell Biol. 2023 Aug;24(8):576-596. doi: 10.1038/s41580-023-00604-z. Epub 2023 Apr 27. Nat Rev Mol Cell Biol. 2023. PMID: 37106071 Free PMC article. Review.
-
Simulation-based survey of TMEM16 family reveals that robust lipid scrambling requires an open groove.bioRxiv [Preprint]. 2024 Nov 13:2024.09.25.615027. doi: 10.1101/2024.09.25.615027. bioRxiv. 2024. PMID: 39386458 Free PMC article. Preprint.
-
Procoagulant Phosphatidylserine-Exposing Platelets in vitro and in vivo.Front Cardiovasc Med. 2020 Mar 3;7:15. doi: 10.3389/fcvm.2020.00015. eCollection 2020. Front Cardiovasc Med. 2020. PMID: 32195268 Free PMC article. Review.
-
Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.Haematologica. 2021 Feb 1;106(2):337-350. doi: 10.3324/haematol.2020.248153. Haematologica. 2021. PMID: 33147934 Free PMC article. Review.
-
A major interspecies difference in the ionic selectivity of megakaryocyte Ca2+-activated channels sensitive to the TMEM16F inhibitor CaCCinh-A01.Platelets. 2019;30(8):962-966. doi: 10.1080/09537104.2019.1595560. Epub 2019 Apr 22. Platelets. 2019. PMID: 31008669 Free PMC article.
Publication types
MeSH terms
Substances
Supplementary concepts
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
