Literature DB >> 27879994

A new mutation of ANO6 in two familial cases of Scott syndrome.

Pierre Boisseau1, Marie C Bene2, Thomas Besnard1, Sinthuja Pachchek1, Mathilde Giraud1, Patricia Talarmain1, Nelly Robillard2, Marie A Gourlaouen1, Stéphane Bezieau1, Marc Fouassier2,3.   

Abstract

Entities:  

Keywords:  ANO6; Anoctamin 6; Scott syndrome; inherited platelet disorder; scramblase

Mesh：

Substances：

Year:  2016        PMID： 27879994     DOI： 10.1111/bjh.14439

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  6 in total

1.  Functional coupling between TRPV4 channel and TMEM16F modulates human trophoblast fusion.

Authors:  Yang Zhang; Pengfei Liang; Liheng Yang; Ke Zoe Shan; Liping Feng; Yong Chen; Wolfgang Liedtke; Carolyn B Coyne; Huanghe Yang
Journal:  Elife       Date:  2022-06-07       Impact factor: 8.713

Review 2.  Known structures and unknown mechanisms of TMEM16 scramblases and channels.

Authors:  Maria E Falzone; Mattia Malvezzi; Byoung-Cheol Lee; Alessio Accardi
Journal:  J Gen Physiol       Date:  2018-06-18       Impact factor: 4.086

3.  Cryo-EM Studies of TMEM16F Calcium-Activated Ion Channel Suggest Features Important for Lipid Scrambling.

Authors:  Shengjie Feng; Shangyu Dang; Tina Wei Han; Wenlei Ye; Peng Jin; Tong Cheng; Junrui Li; Yuh Nung Jan; Lily Yeh Jan; Yifan Cheng
Journal:  Cell Rep       Date:  2019-07-09       Impact factor: 9.423

4.  A major interspecies difference in the ionic selectivity of megakaryocyte Ca2+-activated channels sensitive to the TMEM16F inhibitor CaCCinh-A01.

Authors:  Kirk A Taylor; Martyn P Mahaut-Smith
Journal:  Platelets       Date:  2019-04-22       Impact factor: 3.862

Review 5.  Procoagulant Phosphatidylserine-Exposing Platelets in vitro and in vivo.

Authors:  Emily C Reddy; Margaret L Rand
Journal:  Front Cardiovasc Med       Date:  2020-03-03

Review 6.  Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.

Authors:  Paquita Nurden; Simon Stritt; Remi Favier; Alan T Nurden
Journal:  Haematologica       Date:  2021-02-01       Impact factor: 9.941
  6 in total

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