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Page 1
Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds.
Arandel L, Polay Espinoza M, Matloka M, Bazinet A, De Dea Diniz D, Naouar N, Rau F, Jollet A, Edom-Vovard F, Mamchaoui K, Tarnopolsky M, Puymirat J, Battail C, Boland A, Deleuze JF, Mouly V, Klein AF, Furling D. Arandel L, et al. Among authors: boland a. Dis Model Mech. 2017 Apr 1;10(4):487-497. doi: 10.1242/dmm.027367. Epub 2017 Feb 10. Dis Model Mech. 2017. PMID: 28188264 Free PMC article.
A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.
Augière C, Mégy S, El Malti R, Boland A, El Zein L, Verrier B, Mégarbané A, Deleuze JF, Bouvagnet P. Augière C, et al. Among authors: boland a. PLoS One. 2015 Jun 10;10(6):e0127903. doi: 10.1371/journal.pone.0127903. eCollection 2015. PLoS One. 2015. PMID: 26061005 Free PMC article.
Rare ACTG1 variants in fetal microlissencephaly.
Poirier K, Martinovic J, Laquerrière A, Cavallin M, Fallet-Bianco C, Desguerre I, Valence S, Grande-Goburghun J, Francannet C, Deleuze JF, Boland A, Chelly J, Bahi-Buisson N. Poirier K, et al. Among authors: boland a. Eur J Med Genet. 2015 Aug;58(8):416-8. doi: 10.1016/j.ejmg.2015.06.006. Epub 2015 Jul 16. Eur J Med Genet. 2015. PMID: 26188271
In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin.
Laustriat D, Gide J, Barrault L, Chautard E, Benoit C, Auboeuf D, Boland A, Battail C, Artiguenave F, Deleuze JF, Bénit P, Rustin P, Franc S, Charpentier G, Furling D, Bassez G, Nissan X, Martinat C, Peschanski M, Baghdoyan S. Laustriat D, et al. Among authors: boland a. Mol Ther Nucleic Acids. 2015 Nov 3;4(11):e262. doi: 10.1038/mtna.2015.35. Mol Ther Nucleic Acids. 2015. PMID: 26528939 Free PMC article.
Bdf1 Bromodomains Are Essential for Meiosis and the Expression of Meiotic-Specific Genes.
García-Oliver E, Ramus C, Perot J, Arlotto M, Champleboux M, Mietton F, Battail C, Boland A, Deleuze JF, Ferro M, Couté Y, Govin J. García-Oliver E, et al. Among authors: boland a. PLoS Genet. 2017 Jan 9;13(1):e1006541. doi: 10.1371/journal.pgen.1006541. eCollection 2017 Jan. PLoS Genet. 2017. PMID: 28068333 Free PMC article.
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.
Saultier P, Vidal L, Canault M, Bernot D, Falaise C, Pouymayou C, Bordet JC, Saut N, Rostan A, Baccini V, Peiretti F, Favier M, Lucca P, Deleuze JF, Olaso R, Boland A, Morange PE, Gachet C, Malergue F, Fauré S, Eckly A, Trégouët DA, Poggi M, Alessi MC. Saultier P, et al. Among authors: boland a. Haematologica. 2017 Jun;102(6):1006-1016. doi: 10.3324/haematol.2016.153577. Epub 2017 Mar 2. Haematologica. 2017. PMID: 28255014 Free PMC article.
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Sanchez E, Laplace-Builhé B, Mau-Them FT, Richard E, Goldenberg A, Toler TL, Guignard T, Gatinois V, Vincent M, Blanchet C, Boland A, Bihoreau MT, Deleuze JF, Olaso R, Nephi W, Lüdecke HJ, Verheij JBGM, Moreau-Lenoir F, Denoyelle F, Rivière JB, Laplanche JL, Willing M, Captier G, Apparailly F, Wieczorek D, Collet C, Djouad F, Geneviève D. Sanchez E, et al. Among authors: boland a. Genet Med. 2020 Mar;22(3):547-556. doi: 10.1038/s41436-019-0669-9. Epub 2019 Oct 24. Genet Med. 2020. PMID: 31649276 Free PMC article.
A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon.
Labrouche-Colomer S, Soukarieh O, Proust C, Mouton C, Huguenin Y, Roux M, Besse C, Boland A, Olaso R, Constans J, Deleuze JF, Morange PE, Jaspard-Vinassa B, Trégouët DA; GenMed Consortium. Labrouche-Colomer S, et al. Among authors: boland a. Clin Sci (Lond). 2020 May 29;134(10):1181-1190. doi: 10.1042/CS20200403. Clin Sci (Lond). 2020. PMID: 32426810 Free article.
560 results