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Role of CD14+ monocyte-derived oxidised mitochondrial DNA in the inflammatory interferon type 1 signature in juvenile dermatomyositis.

Autor: L. I. Wilkinson, Meredyth G., Moulding, Dale, McDonnell, Thomas C. R., Orford, Michael, Wincup, Chris, Ting, Joanna Y. J., Otto, Georg W., Restuadi, Restuadi, Kelberman, Daniel, Papadopoulou, Charalampia, Castellano, Sergi, Eaton, Simon, Deakin, Claire T., Rosser, Elizabeth C., Wedderburn, Lucy R.

Publikováno v: Annals of the Rheumatic Diseases; May2023, Vol. 82 Issue 5, p658-669, 12p

Analysis of common IL-6 promoter SNP variants and the AnTn tract in humans and primates and effects on plasma IL-6 levels following coronary artery bypass graft surgery

Autor: Kelberman, Daniel, Fife, Mark, Rockman, Matthew V., Brull, David J., Woo, Patricia, Humphries, Steve E. ^*

Publikováno v: In BBA - Molecular Basis of Disease 2004 1688(2):160-167

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Mutation of SALL2 causes recessive ocular coloboma in humans and mice

Autor: Kelberman, Daniel, Islam, Lily, Lakowski, Jörn, Bacchelli, Chiara, Chanudet, Estelle, Lescai, Francesco, Patel, Aara, Stupka, Elia, Buck, Anja, Wolf, Stephan, Beales, Philip L, Jacques, Thomas S, Bitner-Glindzicz, Maria, Liasis, Alki, Lehmann, Ordan J, Kohlhase, Jürgen, Nischal, Ken K, Sowden, Jane C

Publikováno v: Kelberman, D, Islam, L, Lakowski, J, Bacchelli, C, Chanudet, E, Lescai, F, Patel, A, Stupka, E, Buck, A, Wolf, S, Beales, P L, Jacques, T S, Bitner-Glindzicz, M, Liasis, A, Lehmann, O J, Kohlhase, J, Nischal, K K & Sowden, J C 2014, ' Mutation of SALL2 causes recessive ocular coloboma in humans and mice ', Human Molecular Genetics, vol. 23, no. 10, ddt643, pp. 2511-2526 . https://doi.org/10.1093/hmg/ddt643
Kelberman, D, Islam, L, Lakowski, J, Bacchelli, C, Chanudet, E, Lescai, F, Patel, A, Stupka, E, Buck, A, Wolf, S, Beales, P L, Jacques, T S, Bitner-Glindzicz, M, Liasis, A, Lehmann, O J, Kohlhase, J, Nischal, K K & Sowden, J C 2014, ' Mutation of SALL2 causes recessive ocular coloboma in humans and mice ', Human Molecular Genetics . https://doi.org/10.1093/hmg/ddt643

Ocular coloboma is a congenital defect resulting from failure of normal closure of the optic fissure during embryonic eye development. This birth defect causes childhood blindness worldwide, yet the genetic etiology is poorly understood. Here, we ide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::50ee864e4bdcfc953c8575a8c102ab32
https://pure.au.dk/portal/da/publications/mutation-of-sall2-causes-recessive-ocular-coloboma-in-humans-and-mice(95c230fa-efe8-4211-ada6-b639b88e61e8).html