OBO ID: DOID:11725

Citations

(13 total)

Term: Cornelia de Lange syndrome

Bottai, D., Spreafico, M., Pistocchi, A., Fazio, G., Adami, R., Grazioli, P., Canu, A., Bragato, C., Rigamonti, S., Parodi, C., Cazzaniga, G., Biondi, A., Cotelli, F., Selicorni, A., Massa, V. (2018) Modeling Cornelia de Lange Syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation. Human molecular genetics. 28(1):64-73

Cukrov, D., Newman, T., Leask, M., Leeke, B., Sarogni, P., Patimo, A., Kline, A.D., Krantz, I.D., Horsfield, J., Musio, A. (2018) Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo. Human molecular genetics. 27(17):3002-3011

Banerji, R., Skibbens, R.V., Iovine, M.K. (2017) How many roads lead to cohesinopathies?. Developmental Dynamics : an official publication of the American Association of Anatomists. 246(11):881-888

Fazio, G., Gaston-Massuet, C., Bettini, L.R., Graziola, F., Scagliotti, V., Cereda, A., Ferrari, L., Mazzola, M., Cazzaniga, G., Giordano, A., Cotelli, F., Bellipanni, G., Biondi, A., Selicorni, A., Pistocchi, A., Massa, V. (2016) CyclinD1 Down Regulation and Increased Apoptosis Are Common Features of Cohesinopathies. Journal of Cellular Physiology. 231(3):613-22

Kawauchi, S., Santos, R., Muto, A., Lopez-Burks, M.E., Schilling, T.F., Lander, A.D., Calof, A.L. (2016) Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome. American journal of medical genetics. Part C, Seminars in medical genetics. 172(2):138-45

Schuster, K., Leeke, B., Meier, M., Wang, Y., Newman, T., Burgess, S., Horsfield, J.A. (2015) A neural crest origin for cohesinopathy heart defects. Human molecular genetics. 24(24):7005-16

Xu, B., Sowa, N., Cardenas, M.E., Gerton, J.L. (2015) L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome. Human molecular genetics. 24(6):1540-55

Muto, A., Ikeda, S., Lopez-Burks, M.E., Kikuchi, Y., Calof, A.L., Lander, A.D., Schilling, T.F. (2014) Nipbl and Mediator Cooperatively Regulate Gene Expression to Control Limb Development. PLoS Genetics. 10:e1004671

Pistocchi, A., Fazio, G., Cereda, A., Ferrari, L., Bettini, L.R., Messina, G., Cotelli, F., Biondi, A., Selicorni, A., and Massa, V. (2013) Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts. Cell Death & Disease. 4:e866

Deardorff, M.A., Wilde, J.J., Albrecht, M., Dickinson, E., Tennstedt, S., Braunholz, D., Mönnich, M., Yan, Y., Xu, W., Gil-Rodríguez, M.C., Clark, D., Hakonarson, H., Halbach, S., Michelis, L.D., Rampuria, A., Rossier, E., Spranger, S., Van Maldergem, L., Lynch, S.A., Gillessen-Kaesbach, G., Lüdecke, H.J., Ramsay, R.G., McKay, M.J., Krantz, I.D., Xu, H., Horsfield, J.A., and Kaiser, F.J. (2012) RAD21 Mutations Cause a Human Cohesinopathy. American journal of human genetics. 90(6):1014-1027

Muto, A., Calof, A.L., Lander, A.D., and Schilling, T.F. (2011) Multifactorial Origins of Heart and Gut Defects in nipbl-Deficient Zebrafish, a Model of Cornelia de Lange Syndrome. PLoS Biology. 9(10):e1001181

Tonkin, E.T., Wang, T.J., Lisgo, S., Bamshad, M.J., and Strachan, T. (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nature Genetics. 36(6):636-641

Smith, M., Herrell, S., Lusher, M., Lako, L., Simpson, C., Wiestner, A., Skoda, R., Ireland, M., and Strachan, T. (1999) Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes. Human genetics. 105(1-2):104-111