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Platelet JNK1 is involved in secretion and thrombus formation.
Adam F, Kauskot A, Nurden P, Sulpice E, Hoylaerts MF, Davis RJ, Rosa JP, Bryckaert M. Adam F, et al. Among authors: nurden p. Blood. 2010 May 20;115(20):4083-92. doi: 10.1182/blood-2009-07-233932. Epub 2010 Mar 15. Blood. 2010. PMID: 20231429 Free article.
Heterogeneity of platelet functional alterations in patients with filamin A mutations.
Berrou E, Adam F, Lebret M, Fergelot P, Kauskot A, Coupry I, Jandrot-Perrus M, Nurden A, Favier R, Rosa JP, Goizet C, Nurden P, Bryckaert M. Berrou E, et al. Among authors: nurden a, nurden p. Arterioscler Thromb Vasc Biol. 2013 Jan;33(1):e11-8. doi: 10.1161/ATVBAHA.112.300603. Epub 2012 Nov 1. Arterioscler Thromb Vasc Biol. 2013. PMID: 23117662
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: nurden p, nurden at. 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.
Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation.
Berrou E, Adam F, Lebret M, Planche V, Fergelot P, Issertial O, Coupry I, Bordet JC, Nurden P, Bonneau D, Colin E, Goizet C, Rosa JP, Bryckaert M. Berrou E, et al. Among authors: nurden p. Arterioscler Thromb Vasc Biol. 2017 Jun;37(6):1087-1097. doi: 10.1161/ATVBAHA.117.309337. Epub 2017 Apr 20. Arterioscler Thromb Vasc Biol. 2017. PMID: 28428218
A novel missense mutation in a leucine-rich repeat of GPIbα in a Bernard-Soulier variant reduces shear-dependent adherence on von Willebrand factor.
Proulle V, Strassel C, Perrault C, Baas MJ, Moog S, Mangin P, Nurden P, Nurden A, Adam F, Bryckaert M, Kauskot A, Li R, Lanza F. Proulle V, et al. Among authors: nurden a, nurden p. Br J Haematol. 2019 Sep;186(6):e184-e187. doi: 10.1111/bjh.16068. Epub 2019 Jul 1. Br J Haematol. 2019. PMID: 31257572 Free article. No abstract available.
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
Nurden P, Debili N, Coupry I, Bryckaert M, Youlyouz-Marfak I, Solé G, Pons AC, Berrou E, Adam F, Kauskot A, Lamazière JM, Rameau P, Fergelot P, Rooryck C, Cailley D, Arveiler B, Lacombe D, Vainchenker W, Nurden A, Goizet C. Nurden P, et al. Among authors: nurden a. Blood. 2011 Nov 24;118(22):5928-37. doi: 10.1182/blood-2011-07-365601. Epub 2011 Sep 29. Blood. 2011. PMID: 21960593 Free article.
216 results