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pro vyhledávání: '"Mirena C Astiazaran"'
Autor:
Dominique Bonneau, Luis A Gonzalez-Nieto, Stine Leenskjold, Patrick Callier, Isabelle Thiffault, Katheryn Grand, Pauline Bogaard, Séverine Drunat, Elizabeth J. Bhoj, Hakon Hakonarson, Katherine T. Wild, Elaine H. Zackai, Elena Repnikova, Damien Haye, Irene K Nielsen, Mirena C Astiazaran, Irfan Saadi, Daphné Lehalle, Ida Charlotte Bay Lund, Shivarajan M. Amudhavalli, Annick Toutain, Alain Verloes, Ana Sofia Carvalho, Dong Li, Carol J Saunders, Yoann Vial, Kadri Karaer
Publikováno v:
Eur J Med Genet
Bhoj, E J, Haye, D, Toutain, A, Bonneau, D, Nielsen, I K, Lund, I B, Bogaard, P, Leenskjold, S, Karaer, K, Wild, K T, Grand, K L, Astiazaran, M C, Gonzalez-Nieto, L A, Carvalho, A, Lehalle, D, Amudhavalli, S M, Repnikova, E, Saunders, C, Thiffault, I, Saadi, I, Li, D, Hakonarson, H, Vial, Y, Zackai, E, Callier, P, Drunat, S & Verloes, A 2019, ' Phenotypic spectrum associated with SPECC1L pathogenic variants : new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes ', European Journal of Medical Genetics, vol. 62, no. 12, 103588 . https://doi.org/10.1016/j.ejmg.2018.11.022
Eur J Med Genet, 2019, 62 (12), pp.103588. ⟨10.1016/j.ejmg.2018.11.022⟩
Bhoj, E J, Haye, D, Toutain, A, Bonneau, D, Nielsen, I K, Lund, I B, Bogaard, P, Leenskjold, S, Karaer, K, Wild, K T, Grand, K L, Astiazaran, M C, Gonzalez-Nieto, L A, Carvalho, A, Lehalle, D, Amudhavalli, S M, Repnikova, E, Saunders, C, Thiffault, I, Saadi, I, Li, D, Hakonarson, H, Vial, Y, Zackai, E, Callier, P, Drunat, S & Verloes, A 2019, ' Phenotypic spectrum associated with SPECC1L pathogenic variants : new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes ', European Journal of Medical Genetics, vol. 62, no. 12, 103588 . https://doi.org/10.1016/j.ejmg.2018.11.022
Eur J Med Genet, 2019, 62 (12), pp.103588. ⟨10.1016/j.ejmg.2018.11.022⟩
International audience; The SPECC1L protein plays a role in adherens junctions involved in cell adhesion, actin cytoskeleton organization, microtubule stabilization, spindle organization and cytokinesis. It modulates PI3K-AKT signaling and controls c