Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Aleksandra Ivovic"'
Autor:
Heeseog Kang, Smita Jha, Zuoming Deng, Nadja Fratzl-Zelman, Wayne A. Cabral, Aleksandra Ivovic, Françoise Meylan, Eric P. Hanson, Eileen Lange, James Katz, Paul Roschger, Klaus Klaushofer, Edward W. Cowen, Richard M. Siegel, Joan C. Marini, Timothy Bhattacharyya
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Melorheostosis is characterized by bone overgrowth and associated with pain and functional impairment. Here, the authors use whole exome sequencing to identify somatic mutations in MAP2K1 in affected bone of melorheostosis patients which is associate
Externí odkaz:
https://doaj.org/article/09b0dd3aa7ac4ad59c6710da313a7a43
Autor:
Matthew Hoare, Stanley W.K. Ng, Philip Robinson, Natalia Brzozowska, Mathijs A. Sanders, Nicholas Williams, Peter J. Campbell, Efterpi Nikitopoulou, Ming Yang, Natalie Birtchnell, Sarah J. Aitken, Lia Chappell, Foad J. Rouhani, Keiran Raine, Beverley Wilson, Christian Frezza, Inigo Martincorena, Simon F. Brunner, Daniel Leongamornlert, Tim H. H. Coorens, Adam Butler, Tim Butler, Jon W. Teague, Susan E. Davies, Aleksandra Ivovic, Michael R. Stratton, Raheleh Rahbari, Federico Abascal, Huw W. Naylor, Luiza Moore, Yvette Hooks
Publikováno v:
Nature, 598(7881), 473-478. Nature Publishing Group
The progression of chronic liver disease to hepatocellular carcinoma is caused by the acquisition of somatic mutations that affect 20–30 cancer genes1–8. Burdens of somatic mutations are higher and clonal expansions larger in chronic liver diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e937c4b992c126b666335b63a112a622
https://doi.org/10.1038/s41586-021-03974-6
https://doi.org/10.1038/s41586-021-03974-6
Autor:
Natalie Birtchnell, Sarah J. Aitken, Stanley W.K. Ng, Inigo Martincorena, Adam Butler, Peter J. Campbell, Daniel Leongamornlert, Keiran Raine, Jon W. Teague, Tim H. H. Coorens, Beverley Wilson, Mathijs A. Sanders, Natalia Brzozowska, Michael R. Stratton, Federico Abascal, Yvette Hooks, Nicholas Williams, Philip Robinson, Aleksandra Ivovic, Simon F. Brunner, Tim Butler, Huw W. Naylor, Susan E. Davies, Matthew Hoare, Luiza Moore
Publikováno v:
Abstracts.
Chronic liver disease is associated with metabolic dysregulation, liver failure and hepatocellular carcinoma. We analysed somatic mutations from 1202 genomes across 32 liver samples, including normal controls, alcohol-related and non-alcoholic fatty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8b8d0bebf63c7104498d8bef9e774350
https://doi.org/10.1136/gutjnl-2020-basl.47
https://doi.org/10.1136/gutjnl-2020-basl.47
Autor:
Joan C. Marini, Heeseog Kang, Timothy Bhattacharyya, Wayne A. Cabral, Smita Jha, Zuoming Deng, Edward W. Cowen, Eric P. Hanson, Klaus Klaushofer, Aleksandra Ivovic, Eileen Lange, Paul Roschger, James D. Katz, Richard M. Siegel, Apratim Mitra, Nadja Fratzl-Zelman, Ryan K. Dale
Publikováno v:
The Journal of Experimental Medicine
Somatic mosaicism for MAP2K1-activating mutations causes radiographical “dripping candle wax” melorheostosis. Kang et al. report somatic mosaicism for SMAD3 mutations in bone lesions of endosteal pattern melorheostosis. The SMAD3 mutations increa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03358c9b64e47668d78d45cd58657181
https://doi.org/10.1084/jem.20191499
https://doi.org/10.1084/jem.20191499
Autor:
Wan-Fai Ng, Peter J. Campbell, Aleksandra Ivovic, David Storey, Matthew Collin, Paul Milne, Emmanuella Traianos, Jessica Tarn, Anastasia Resteu, Richard M. Siegel
Publikováno v:
Abstracts Accepted for Publication.
Background: Primary Sjogren’s Syndrome (PSS) is a common autoimmune disease of unknown aetiology. It is characterised by inflammatory infiltration of exocrine glands, development of a sicca syndrome and a 20-fold increase in the risk of developing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99b876ccee27b41c6c8f04328295489e
https://doi.org/10.1136/annrheumdis-2019-eular.5510
https://doi.org/10.1136/annrheumdis-2019-eular.5510
Autor:
Richard M. Siegel, Kyung-Hyun Park-Min, Aleksandra Ivovic, Sung Ho Park, Lionel B. Ivashkiv, Eugenia G. Giannopoulou, Laura T. Donlin
Publikováno v:
Nature reviews. Rheumatology. 15(6)
Rheumatic diseases have complex aetiologies that are not fully understood, which makes the study of pathogenic mechanisms in these diseases a challenge for researchers. Next-generation sequencing (NGS) and related omics technologies, such as transcri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b37f60f9740780fd8118c2ddc765bbe
https://pubmed.ncbi.nlm.nih.gov/31000790
https://pubmed.ncbi.nlm.nih.gov/31000790
Autor:
Joan C. Marini, Aleksandra Ivovic, James D. Katz, Paul Roschger, Timothy Bhattacharyya, Wayne A. Cabral, Smita Jha, Stéphane Blouin, Heeseog Kang, Richard M. Siegel, Andreas Roschger, Zuoming Deng, Klaus Klaushofer, Peter Fratzl, Nadja Fratzl-Zelman
Publikováno v:
J Bone Miner Res
Melorheostosis is a rare non-hereditary condition characterized by dense hyperostotic lesions with radiographic "dripping candle wax" appearance. Somatic activating mutations in MAP2K1 have recently been identified as a cause of melorheostosis. Howev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::992501ecfa70aab7ff1f9b935e638d0a
https://europepmc.org/articles/PMC8302214/
https://europepmc.org/articles/PMC8302214/
Autor:
Françoise Meylan, Andrew C. Warner, Joan C. Marini, Alison A. McBride, Timothy Bhattacharyya, Elijah F. Edmondson, Heeseog Kang, Aleksandra Ivovic, James D. Katz, Casey A. Rimland, Edward W. Cowen, Eric P. Hanson, Richard M. Siegel, Smita Jha, Eileen Lange
Publikováno v:
J Invest Dermatol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48a6bbfd2c523762f503e1bd9b9fea7a
https://doi.org/10.1016/j.jid.2020.06.036
https://doi.org/10.1016/j.jid.2020.06.036
Autor:
James D. Katz, Zuoming Deng, Georgios Z. Papadakis, Lauren Flynn, Richard M. Siegel, Aleksandra Ivovic, Katharine E. Alter, Nadja Fratzl-Zelman, Markku Miettinen, Joan C. Marini, Klaus Klaushofer, Heeseog Kang, Tanya J. Lehky, Timothy Bhattacharyya, Paul Roschger, Smita Jha, Edward W. Cowen, Eileen Lange, James C. Reynolds, Abhijit Dasgupta
Publikováno v:
J Bone Miner Res
Melorheostosis is a rare hyperostotic disease of the long bones classically characterized by a "dripping candle-wax" radiographic appearance. We recently described somatic activating mutations in MAP2K1 as a cause of melorheostosis. Here, we report d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7909db3c48e129f183debf8a9381679b
https://pubmed.ncbi.nlm.nih.gov/30138550
https://pubmed.ncbi.nlm.nih.gov/30138550
Autor:
Zuoming Deng, Eric P. Hanson, Paul Roschger, James D. Katz, Heeseog Kang, Wayne A. Cabral, Eileen Lange, Edward W. Cowen, Joan C. Marini, Françoise Meylan, Smita Jha, Aleksandra Ivovic, Timothy Bhattacharyya, Richard M. Siegel, Nadja Fratzl-Zelman, Klaus Klaushofer
Publikováno v:
Publons
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Web of Science
Nature Communications
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Web of Science
Nature Communications
Melorheostosis is a sporadic disease of uncertain etiology characterized by asymmetric bone overgrowth and functional impairment. Using whole exome sequencing, we identify somatic mosaic MAP2K1 mutations in affected, but not unaffected, bone of eight
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a3c9d7f441e9801c0fb2663a3357787
https://publons.com/publon/30584994/
https://publons.com/publon/30584994/