Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.

Autor: Kirsten A Petrie, Wen Hwa Lee, Alex N Bullock, Jenny J Pointon, Roger Smith, R Graham G Russell, Matthew A Brown, B Paul Wordsworth, James T Triffitt

Publikováno v: PLoS ONE, Vol 4, Iss 3, p e5005 (2009)

Fibrodysplasia Ossificans Progressiva (FOP) is a rare, heritable condition typified by progression of extensive ossification within skeletal muscle, ligament and tendon together with defects in skeletal development. The condition is easily diagnosed

Externí odkaz: https://doaj.org/article/b097e4267c6e4170957da7b1b55e9796

Oral Abstracts 1: Connective Tissue Disease * O1. Long-Term Outcomes of Children Born to Mothers with SLE

Autor: S. Kia, R. Alade, S. Dadoun, C. McConkey, Costantino Pitzalis, S. Yew, Bhaskar Dasgupta, Munther A. Khamashta, R. Zamoyska, Stephan D. Gadola, R. Brownlie, S. Keidel, Heidi J. Siddle, O. Flossmann, M. Gayed, Pravin Patil, B. Parker, S. Mansour, T. Gordon, I. Giles, H. Collier, C. Sanchez-Blanco, A Ridley, L. Klavinskis, Neil McHugh, Peter J. Maddison, P. J. Venables, Ian N. Bruce, D. L. Scott, V. H. Ong, A. Tocheva, K. Bracke, S. Dosanjh, M. Saini, V. Toescu, Mark Lunt, I. McInnes, C. Denton, Esha Abrol, Christopher P. Denton, J. Gray, G. Cornish, Philip S. Helliwell, Christopher Buckley, E. Lugli, Dimitrios Christidis, Simon Kollnberger, M. Urowitz, Anthony C. Redmond, Guy Brusselle, S. Jain, Michele Bombardieri, D. Gladman, N. Navarro-Coy, T. Karaderi, Jacqueline Shaw, J. Adams, Nora Ng, E. Williamson, M. A. Williams, F. Ibrahim, I. Wong, Begonya Alcacer-Pitarch, S Kelly, F. Leone, H. Platten, J. Pointon, David Jayne, J. Lord, D. Walker, Andrew P. Cope, K. Chakravarty, Frances Humby, C. Cooper, Lorraine Loughrey, K. Lundberg, R. Luqmani, Maya H Buch, Lee Suan Teh, G. Burn, S. E. Lamb, F. Birrell, Helen Doll, Richard David Williams, J. Wright, Paul Emery, Paul Wordsworth, Rebecca Hands, Paul Bowness, S. Pavitt, M. H. Al-Mossawi, K. Khan, C. F. Hong, Peter Taylor, R. Suppiah, J. Robson, L Goulston, P. Hoglund, C. Kelly, G. Kingsley, Christopher J Edwards, S. I. Nihtyanova, Mark R. Williams, Stephen J. Thompson, Mohammed Akil, Frances Borg, M. Underwood, P. J. Heine, L. Harper, K. Westman, Chetan Mukhtyar, Caroline Gordon, C. Cohen, L. Svensson, David A. Isenberg, A. Herrick, L. Appleton, C. G. Pulido, T. Adizie, M. Di Cicco

Publikováno v: Rheumatology. 52:i26-i32

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::476761f2da1b2f2f0f4883c3667ba5aa
https://doi.org/10.1093/rheumatology/ket199

Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients

Autor: B. Paul Wordsworth, James T. Triffitt, Matthew A. Brown, J J Pointon, R. Graham G. Russell, Alex N. Bullock, Wen Hwa Lee, Roger Smith, K A Petrie

Publikováno v: PLoS ONE
PLoS ONE, Vol 4, Iss 3, p e5005 (2009)

Fibrodysplasia Ossificans Progressiva (FOP) is a rare, heritable condition typified by progression of extensive ossification within skeletal muscle, ligament and tendon together with defects in skeletal development. The condition is easily diagnosed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ce531d9d0118358e3915b4f8be705b4
https://ora.ox.ac.uk/objects/uuid:d470a3e8-da04-4b28-9ed1-258ca0772f35

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation

Autor: S. R. Phelps, J. Holland, J. Pointon, Angela Barnicoat, H.R. Middleton-Price, Kay E. Davies, L. Campbell, M.E. Pembrey, A. V. Flannery, Ben A. Oostra, Samantha J. L. Knight, Martin Bobrow, Mark C. Hirst, Zoe Christodoulou

We have cloned the fragile site FRAXE and demonstrate that individuals with this fragile site possess amplifications of a GCC repeat adjacent to a CpG island in Xq28 of the human X chromosome. Normal individuals have 6-25 copies of the GCC repeat, wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2071de9963ceb932f1db31e64cb5922
https://doi.org/10.1016/0092-8674(93)90300-f

A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4

Autor: Peter H. Mackie, Antonio Piga, Antonella Roetto, Karen Livesey, Jennifer J. Pointon, Clara Camaschella, Giuliana Barbabietola, Filomena Daraio, Alison T. Merryweather-Clarke, Kathryn J.H. Robson

Hemochromatosis type 4 is an atypical hemochromatosis characterized by dominant inheritance, increased serum ferritin, normal transferrin saturation, and prevalent iron deposition in the reticuloendothelial (RE) cells rather than in hepatocytes. Hete

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c8cfa703011fd5e96c757c18f4d1287
https://doi.org/10.1182/blood-2002-03-0693