Zobrazeno 1 - 10
of 113
pro vyhledávání: '"Fernanda, Amary"'
Autor:
William Cross, Iben Lyskjær, Tom Lesluyes, Steven Hargreaves, Anna-Christina Strobl, Christopher Davies, Sara Waise, Shadi Hames-Fathi, Dahmane Oukrif, Hongtao Ye, Fernanda Amary, Roberto Tirabosco, Craig Gerrand, Toby Baker, David Barnes, Christopher Steele, Ludmil Alexandrov, Gareth Bond, Genomics England Research Consortium, Paul Cool, Nischalan Pillay, Peter Van Loo, Adrienne M. Flanagan
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)
Abstract Background Central conventional chondrosarcoma (CS) is the most common subtype of primary malignant bone tumour in adults. Treatment options are usually limited to surgery, and prognosis is challenging. These tumours are characterised by the
Externí odkaz:
https://doaj.org/article/ffacb8a0eb7048c79fcc4c60653e1002
Autor:
Hager barakizou, Gannouni Souha, Thouraya Kamoun, Muhammed Mehdi, Fernanda Amary, Zilla Huma, Anne-laure Todeschini, Reiner Veitia, Malcolm Donaldson
Publikováno v:
JCRPE, Vol 14, Iss 1, Pp 107-113 (2022)
Ovarian causes of precocious pseudo-puberty (PPP) include McCune-Albright syndrome (MAS) and juvenile granulosa cell tumour (JGCT). We describe a case of PPP in which bilateral ovarian enlargement with multiple cysts progressed to unilateral JGCT. A
Externí odkaz:
https://doaj.org/article/4316d518cba84646ad07adaa5729732a
Autor:
Solange De Noon, Jannat Ijaz, Tim HH Coorens, Fernanda Amary, Hongtao Ye, Anna Strobl, Iben Lyskjær, Adrienne M Flanagan, Sam Behjati
Publikováno v:
The Journal of Pathology: Clinical Research, Vol 7, Iss 5, Pp 425-431 (2021)
Abstract Osteosarcoma, the most common primary malignant tumour of bone, affects both children and adults. No fundamental biological differences between paediatric and adult osteosarcoma are known. Here, we apply multi‐region whole‐genome sequenc
Externí odkaz:
https://doaj.org/article/16b98de9749b4c9abdc0e03213cd875e
Autor:
Iben Lyskjær, Solange De Noon, Roberto Tirabosco, Ana Maia Rocha, Daniel Lindsay, Fernanda Amary, Hongtao Ye, Daniel Schrimpf, Damian Stichel, Martin Sill, Christian Koelsche, Nischalan Pillay, Andreas Von Deimling, Stephan Beck, Adrienne M Flanagan
Publikováno v:
The Journal of Pathology: Clinical Research, Vol 7, Iss 4, Pp 350-360 (2021)
Abstract Diagnosing bone and soft tissue neoplasms remains challenging because of the large number of subtypes, many of which lack diagnostic biomarkers. DNA methylation profiles have proven to be a reliable basis for the classification of brain tumo
Externí odkaz:
https://doaj.org/article/87eeef613a0246759dc48aec933731e8
Autor:
Sophie C Prendergast, Anna‐Christina Strobl, William Cross, Nischalan Pillay, Sandra J Strauss, Hongtao Ye, Daniel Lindsay, Roberto Tirabosco, Jane Chalker, Shazia S Mahamdallie, Alona Sosinsky, RNOH Pathology Laboratory and Biobank Team, Genomics England Research Consortium, Adrienne M Flanagan, Fernanda Amary
Publikováno v:
The Journal of Pathology: Clinical Research, Vol 6, Iss 4, Pp 297-307 (2020)
Abstract The largest whole genome sequencing (WGS) endeavour involving cancer and rare diseases was initiated in the UK in 2015 and ran for 5 years. Despite its rarity, sarcoma ranked third overall among the number of patients' samples sent for seque
Externí odkaz:
https://doaj.org/article/c5fa0f3501e045e8bd224bb48174ec81
Autor:
Lucia Cottone, Nadia Eden, Inga Usher, Patrick Lombard, Hongtao Ye, Lorena Ligammari, Daniel Lindsay, Sebastian Brandner, Jože Pižem, Nischalan Pillay, Roberto Tirabosco, Fernanda Amary, Adrienne M Flanagan
Publikováno v:
The Journal of Pathology: Clinical Research, Vol 6, Iss 2, Pp 113-123 (2020)
Abstract The expression of p16/CDKN2A, the second most commonly inactivated tumour suppressor gene in cancer, is lost in the majority of chordomas. However, the mechanism(s) leading to its inactivation and contribution to disease progression have onl
Externí odkaz:
https://doaj.org/article/c87f2065efab49d791810ba88b1748ba
Autor:
Matthew W. Fittall, William Mifsud, Nischalan Pillay, Hongtao Ye, Anna-Christina Strobl, Annelien Verfaillie, Jonas Demeulemeester, Lei Zhang, Fitim Berisha, Maxime Tarabichi, Matthew D. Young, Elena Miranda, Patrick S. Tarpey, Roberto Tirabosco, Fernanda Amary, Agamemnon E. Grigoriadis, Michael R. Stratton, Peter Van Loo, Cristina R. Antonescu, Peter J. Campbell, Adrienne M. Flanagan, Sam Behjati
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-6 (2018)
FOS has been linked to bone tumour pathogenesis, and viral homologue v-fos causes osteosarcoma in mice. Here, the authors report rearrangement of FOS and its paralogue FOSB in osteoblastoma and osteoid osteoma, revealing human bone tumours that are d
Externí odkaz:
https://doaj.org/article/e874f5cac91c4dfcb8f739743873d777
Autor:
Daniel Turek, Simon Haefliger, Baptiste Ameline, Ilaria Alborelli, Byron Calgua, Wolfgang Hartmann, Dorothee Harder, Adrienne M. Flanagan, Fernanda Amary, Daniel Baumhoer
Publikováno v:
American Journal of Surgical Pathology. 46:1577-1582
Brown tumors are rare and generally self-limiting mass lesions of bone occurring in the context of hyperparathyroidism. Although commonly regarded as endocrine-driven tumor-like lesions, we detected pathogenic hotspot KRAS mutations in 10/16 brown tu
Autor:
Lucia Cottone, Lorena Ligammari, Hang-Mao Lee, Helen J. Knowles, Stephen Henderson, Sara Bianco, Christopher Davies, Sandra Strauss, Fernanda Amary, Ana Paula Leite, Roberto Tirabosco, Kristian Haendler, Joachim L. Schultze, Javier Herrero, Paul O’Donnell, Agamemnon E. Grigoriadis, Paolo Salomoni, Adrienne M. Flanagan
Publikováno v:
Cell death and differentiation 29(12), 2459-2471 (2022). doi:10.1038/s41418-022-01031-x
Oncohistones represent compelling evidence for a causative role of epigenetic perturbations in cancer. Giant cell tumours of bone (GCTs) are characterised by a mutated histone H3.3 as the sole genetic driver present in bone-forming osteoprogenitor ce
Autor:
Patrick S. Tarpey, Sam Behjati, Matthew D. Young, Inigo Martincorena, Ludmil B. Alexandrov, Sarah J. Farndon, Charlotte Guzzo, Claire Hardy, Calli Latimer, Adam P. Butler, Jon W. Teague, Adam Shlien, P. Andrew Futreal, Sohrab Shah, Ali Bashashati, Farzad Jamshidi, Torsten O. Nielsen, David Huntsman, Daniel Baumhoer, Sebastian Brandner, Jay Wunder, Brendan Dickson, Patricia Cogswell, Josh Sommer, Joanna J. Phillips, M. Fernanda Amary, Roberto Tirabosco, Nischalan Pillay, Stephen Yip, Michael R. Stratton, Adrienne M. Flanagan, Peter J. Campbell
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-6 (2017)
Chordoma is a rare often incurable malignant bone tumour. Here, the authors investigate driver mutations of sporadic chordoma in 104 cases, revealing duplications in notochordal transcription factor brachyury (T), PI3K signalling mutations, and mutat
Externí odkaz:
https://doaj.org/article/208559b87d8a4491810952fc9347c3ba