A new mutation of ANO 6 in two familial cases of Scott syndrome-Reference-Cited by-同舟云学术

A new mutation of ANO 6 in two familial cases of Scott syndrome

Published:2016-11-23 Issue:5 Volume:180 Page:750-752
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Boisseau Pierre¹,Bene Marie C.²,Besnard Thomas¹,Pachchek Sinthuja¹,Giraud Mathilde¹,Talarmain Patricia¹,Robillard Nelly²,Gourlaouen Marie A.¹,Bezieau Stéphane¹,Fouassier Marc²³

Affiliation:

1. Service de Génétique médicale; CHU de Nantes; Nantes France

2. Service d'Hématologie biologique; CHU de Nantes; Nantes France

3. Centre de Traitement de l'Hémophilie; CHU de Nantes; Nantes France

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.14439/fullpdf

Reference10 articles.

1. Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome;Castoldi;Blood,2011

2. TMEM 16F is required for phosphatidylserine exposure and micropaticules release in activated mouse platelets;Fujii;Proceedings of the National Academy of Sciences,2015

3. Detection of phosphatidyl serine on activated platelets’ surface by flow cytometry in whole blood: a simpler test for the diagnosis of Scott syndrome;Halliez;British Journal of Haematology,2015

4. Chloride channels are necessary for full platelet phosphatidylserine exposure and procoagulant activity;Harper;Cell Death & Disease,2013

5. Role of Ca(2+) in the stability and function of TMEM16F and 16K;Ishihara;Biochemistry,2016

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1. Unexpected bleeding with platelet phosphatidylserine exposure defect: new kindred motivates rethinking Scott syndrome;Journal of Thrombosis and Haemostasis;2024-08

2. Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome;Journal of Thrombosis and Haemostasis;2024-08

3. Generation of human TMEM16F-specific affibodies using purified TMEM16F;Frontiers in Molecular Biosciences;2024-01-11

4. Consensus report on markers to distinguish procoagulant platelets from apoptotic platelets: communication from the Scientific and Standardization Committee of the ISTH;Journal of Thrombosis and Haemostasis;2023-08

5. Regulation of phospholipid distribution in the lipid bilayer by flippases and scramblases;Nature Reviews Molecular Cell Biology;2023-04-27