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MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation.
Kauskot A, Mallebranche C, Bruneel A, Fenaille F, Solarz J, Viellard T, Feng M, Repérant C, Bordet JC, Cholet S, Denis CV, McCluskey G, Latour S, Martin E, Pellier I, Lasne D, Borgel D, Kracker S, Ziegler A, Tuffigo M, Fournier B, Miot C, Adam F. Kauskot A, et al. Among authors: feng m. J Thromb Haemost. 2023 Nov;21(11):3268-3278. doi: 10.1016/j.jtha.2023.05.007. Epub 2023 May 18. J Thromb Haemost. 2023. PMID: 37207862
ADP receptor P2Y12 is the capstone of the cross-talk between Ca2+ mobilization pathways dependent on Ca2+ ATPases sarcoplasmic/endoplasmic reticulum type 3 and type 2b in platelets.
Feng M, Hechler B, Adam F, Gachet C, Eckly A, Kauskot A, Denis CV, Bryckaert M, Bobe R, Rosa JP. Feng M, et al. Res Pract Thromb Haemost. 2022 Nov 29;7(1):100004. doi: 10.1016/j.rpth.2022.100004. eCollection 2023 Jan. Res Pract Thromb Haemost. 2022. PMID: 36970741 Free PMC article.
A mutation of the human EPHB2 gene leads to a major platelet functional defect.
Berrou E, Soukaseum C, Favier R, Adam F, Elaib Z, Kauskot A, Bordet JC, Ballerini P, Loyau S, Feng M, Dias K, Muheidli A, Girault S, Nurden AT, Turro E, Ouwehand WH, Denis CV, Jandrot-Perrus M, Rosa JP, Nurden P, Bryckaert M. Berrou E, et al. Among authors: feng m. Blood. 2018 Nov 8;132(19):2067-2077. doi: 10.1182/blood-2018-04-845644. Epub 2018 Sep 13. Blood. 2018. PMID: 30213874 Free article.
4,543 results