Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up

Autor: Martin, J.E., Broen, J.C., Carmona, F.D., Teruel, M., Simeon, C.P., Vonk, M.C., Slot, R. van 't, Rodriguez-Rodriguez, L., Vicente, E., Fonollosa, V., Ortego-Centeno, N., Gonzalez-Gay, M.A., Garcia-Hernandez, F.J., Pena, P.G. de la, Carreira, P., Voskuyl, A.E., Schuerwegh, A.J., Riel, P.L.C.M. van, Kreuter, A., Witte, T., Riemekasten, G., Airo, P., Scorza, R., Lunardi, C., Hunzelmann, N., Distler, J.H.W., Beretta, L., Laar, J. van, Chee, M.M., Worthington, J., Herrick, A., Denton, C., Tan, F.K., Arnett, F.C., Assassi, S., Fonseca, C., Mayes, M.D., Radstake, T.R.D.J., Koeleman, B.P.C., Martin, J., Spanish Schleroderma Grp

Publikováno v: Human Molecular Genetics, 21, 2825-35
Digital.CSIC. Repositorio Institucional del CSIC
instname
Human Molecular Genetics, 21(12), 2825-2835
Human Molecular Genetics, 21, 12, pp. 2825-35
Human Molecular Genetics, 21(12), 2825-2835. Oxford University Press
Martin, J E, Broen, J C, Carmona, F D, Teruel, M, Simeon, C P, Vonk, M C, van't Slot, R, Rodriguez-Rodriguez, L, Vicente, E, Fonollosa, V, Ortego-Centeno, N, Gonzalez-Gay, M A, Garcia-Hernandez, F J, de la Pena, P G, Carreira, P, Voskuyl, A E, Schuerwegh, A J, van Riel, P L C M, Kreuter, A, Witte, T, Riemekasten, G, Airo, P, Scorza, R, Lunardi, C, Hunzelmann, N, Distler, J H W, Beretta, L, van Laar, J, Chee, M M, Worthington, J, Herrick, A, Denton, C, Tan, F K, Arnett, F C, Assassi, S, Fonseca, C, Mayes, M D, Radstake, T R D J, Koeleman, B P C & Martin, J 2012, ' Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up ', Human Molecular Genetics, vol. 21, no. 12, pp. 2825-2835 . https://doi.org/10.1093/hmg/dds099

Systemic sclerosis (SSc) is complex autoimmune disease affecting the connective tissue; influenced by genetic and environmental components. Recently, we performed the first successful genome-wide association study (GWAS) of SSc. Here, we perform a la

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3914a52370dc4faf5d86ae9ffcd775a
https://pubmed.ncbi.nlm.nih.gov/22407130

Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

Autor: Gorlova, O., Martin, J.E., Rueda, B., Koeleman, B.P.C., Ying, J., Teruel, M., Diaz-Gallo, L.M., Broen, J.C., Vonk, M.C., Simeon, C.P., Alizadeh, B.Z., Coenen, M.J.H., Voskuyl, A.E., Schuerwegh, A.J., Riel, P.L.C.M. van, Vanthuyne, M., van't Slot, R., Italiaander, A., Ophoff, R.A., Hunzelmann, N., Fonollosa, V., Ortego-Centeno, N., Gonzalez-Gay, M.A., Garcia-Hernandez, F.J., Gonzalez-Escribano, M.F., Airo, P., Laar, J. van, Worthington, J., Hesselstrand, R., Smith, V., Keyser, F. de, Houssiau, F., Chee, M.M., Madhok, R., Shiels, P.G., Westhovens, R., Kreuter, A., Baere, E. de, Witte, T., Padyukov, L., Nordin, A., Scorza, R., Lunardi, C., Lie, B.A., Hoffmann-Vold, A.M., Palm, O., Pena, P.G. de la, Carreira, P., Varga, J., Hinchcliff, M., Lee, A.T., Gourh, P., Amos, C.I., Wigley, F.M., Hummers, L.K., Hummers, J., Nelson, J.L., Riemekasten, G., Herrick, A., Beretta, L., Fonseca, C., Denton, C.P., Gregersen, P.K., Agarwal, S., Assassi, S., Tan, F.K., Arnett, F.C., Radstake, T.R.D.J., Mayes, M.D., Martin, J., Spanish Scleroderma Grp

Publikováno v: PLoS Genetics, 7(7):e1002178. Public Library of Science
PLOS GENETICS
Dipòsit Digital de la UB
Universidad de Barcelona
ResearcherID
PLoS Genetics, 7(7)
PLoS genetics, 7(7):1002178. PUBLIC LIBRARY SCIENCE
PLoS Genetics
Plos Genetics, 7, 7, pp. e1002178-e1002178
Digital.CSIC. Repositorio Institucional del CSIC
instname
Plos Genetics, 7, e1002178-e1002178
PLoS Genetics, Vol. 7, no. 7, p. e1002178 (2011)
PLoS Genetics; 7(7) (2011)
PLoS Genetics, Vol 7, Iss 7, p e1002178 (2011)
PLoS genetics, vol 7, iss 7
Gorlova, O, Martin, J E, Rueda, B, Koeleman, B P C, Ying, J, Teruel, M, Diaz-Gallo, L M, Broen, J C, Vonk, M C, Simeon, C P, Alizadeh, BZ, Coenen, M J H, Voskuyl, A E, Schuerwegh, A J, van Riel, P L C M, Vanthuyne, M, van't Slot, R, Italiaander, A, Ophoff, R A, Hunzelmann, N, Fonollosa, V, Ortego-Centeno, N, Gonzalez-Gay, M A, Garcia-Hernandez, F J, Gonzalez-Escribano, M F, Airo, P, van Laar, J, Worthington, J, Hesselstrand, R, Smith, V, de Keyser, F, Houssiau, F, Chee, M M, Madhok, R, Shiels, P G, Westhovens, R, Kreuter, A, de Baere, E, Witte, T, Padyukov, L, Nordin, A, Scorza, R, Lunardi, C, Lie, B A, Hoffmann-Vold, A M, Palm, O, de la Pena, P G, Carreira, P, Varga, J, Hinchcliff, M, Lee, A T, Gourh, P, Amos, C I, Wigley, F M, Hummers, L K, Hummers, J, Nelson, J L, Riemekasten, G, Herrick, A, Beretta, L, Fonseca, C, Denton, C P, Gregersen, P K, Agarwal, S, Assassi, S, Tan, F K, Arnett, F C, Radstake, T R D J, Mayes, M D & Martin, J 2011, ' Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy ', PLoS Genetics, vol. 7, no. 7, e1002178 . https://doi.org/10.1371/journal.pgen.1002178

The aim of this study was to determine, through a genome-wide association study (GWAS), the genetic components contributing to different clinical sub-phenotypes of systemic sclerosis (SSc). We considered limited (lcSSc) and diffuse (dcSSc) cutaneous

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd30ce9fd8c210f8b6624f6a424c91f2
https://research.vumc.nl/en/publications/97e8caef-6b62-4301-bdc1-5b79e86e26da

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