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Page 1
Disrupted filamin A/αIIbβ3 interaction induces macrothrombocytopenia by increasing RhoA activity.
Donada A, Balayn N, Sliwa D, Lordier L, Ceglia V, Baschieri F, Goizet C, Favier R, Tosca L, Tachdjian G, Denis CV, Plo I, Vainchenker W, Debili N, Rosa JP, Bryckaert M, Raslova H. Donada A, et al. Among authors: goizet c. Blood. 2019 Apr 18;133(16):1778-1788. doi: 10.1182/blood-2018-07-861427. Epub 2019 Jan 2. Blood. 2019. PMID: 30602618 Free PMC article.
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: goizet c. 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.
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: goizet c. 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
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: goizet c. 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
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
Billon C, Adham S, Hernandez Poblete N, Legrand A, Frank M, Chiche L, Zuily S, Benistan K, Savale L, Zaafrane-Khachnaoui K, Brehin AC, Bal L, Busa T, Fradin M, Quelin C, Chesneau B, Wahl D, Fergelot P, Goizet C, Mirault T, Jeunemaitre X, Albuisson J; Bordeaux-cohort collaborators. Billon C, et al. Among authors: goizet c. Orphanet J Rare Dis. 2021 Dec 4;16(1):504. doi: 10.1186/s13023-021-02128-1. Orphanet J Rare Dis. 2021. PMID: 34863227 Free PMC article.
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.
Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, Kennedy D, Smith G, Khong TY, Solé G, Guerineau E, Coupry I, Huet F, Robertson S, Faivre L. Masurel-Paulet A, et al. Among authors: goizet c. Eur J Med Genet. 2011 Jan-Feb;54(1):25-8. doi: 10.1016/j.ejmg.2010.09.010. Epub 2010 Oct 1. Eur J Med Genet. 2011. PMID: 20888935
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.
Solé G, Coupry I, Rooryck C, Guérineau E, Martins F, Devés S, Hubert C, Souakri N, Boute O, Marchal C, Faivre L, Landré E, Debruxelles S, Dieux-Coeslier A, Boulay C, Chassagnon S, Michel V, Routon MC, Toutain A, Philip N, Lacombe D, Villard L, Arveiler B, Goizet C. Solé G, et al. Among authors: goizet c. J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1394-8. doi: 10.1136/jnnp.2008.162263. J Neurol Neurosurg Psychiatry. 2009. PMID: 19917821
Fetal phenotypes in otopalatodigital spectrum disorders.
Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier MP, Delezoide AL, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P. Naudion S, et al. Among authors: goizet c. Clin Genet. 2016 Mar;89(3):371-7. doi: 10.1111/cge.12679. Epub 2015 Oct 29. Clin Genet. 2016. PMID: 26404489
246 results