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Whole-exome analysis in osteosarcoma to identify a personalized therapy.
Chiappetta C, Mancini M, Lessi F, Aretini P, De Gregorio V, Puggioni C, Carletti R, Petrozza V, Civita P, Franceschi S, Naccarato AG, Rocca CD, Mazzanti CM, Di Cristofano C. Chiappetta C, et al. Oncotarget. 2017 Jul 5;8(46):80416-80428. doi: 10.18632/oncotarget.19010. eCollection 2017 Oct 6. Oncotarget. 2017. PMID: 29113313 Free PMC article.
Despite many advances in cancer research, chemotherapy regimens for osteosarcoma are still based on non-selective cytotoxic drugs. It is essential to investigate new specific molecular therapies for osteosarcoma to increase the survival rate of these patients …
Despite many advances in cancer research, chemotherapy regimens for osteosarcoma are still based on non-selective cytotoxic drugs. It …
Analysis of rare driving events in pediatric acute myeloid leukemia.
Noort S, Oosterwijk JV, Ma J, Garfinkle EAR, Nance S, Walsh M, Song G, Reinhardt D, Pigazzi M, Locatelli F, Hasle H, Abrahamsson J, Jarosova M, Kelaidi C, Polychronopoulou S, Van den Heuvel-Eibrink MM, Fornerod M, Gruber TA, Zwaan CM. Noort S, et al. Haematologica. 2023 Jan 1;108(1):48-60. doi: 10.3324/haematol.2021.280250. Haematologica. 2023. PMID: 35899387 Free PMC article.
Samples were analyzed using RNA sequencing (n=152), whole exome (n=135) and/or whole genome sequencing (n=100). In 70 of 156 patients (45%), of whom RNA sequencing or whole genome sequencing was available, rearrangements were detected, 22 of which were novel; five i …
Samples were analyzed using RNA sequencing (n=152), whole exome (n=135) and/or whole genome sequencing (n=100). In 70 of 156 p …
Preliminary Application of Precision Genomic Medicine Detecting Gene Variation in Patients with Multifocal Osteosarcoma.
Zhang HQ, Li MH, Gao P, Lan PH, Fan B, Xiao X, Lu YJ, Chen GJ, Wang Z. Zhang HQ, et al. Orthop Surg. 2016 May;8(2):129-38. doi: 10.1111/os.12249. Orthop Surg. 2016. PMID: 27384721 Free PMC article.
Finally, we aimed to identify particular gene phenotypes and mutations that differentiate MFOS from OS with only one tumor. METHODS: Clinical data of patients with MFOS treated at our center between June 2007 and October 2014 were collected and analyzed retrospectively. Hi …
Finally, we aimed to identify particular gene phenotypes and mutations that differentiate MFOS from OS with only one tumor. METHODS: …
Osteosarcoma 3D patient derived cultures to test genome-informed personalized treatment options: a feasibility study.
Palubeckaitė I, Venneker S, Franceschini N, Wijers-Koster P, Agaser C, Briaire-de Bruijn I, Kruisselbrink AB, van den Akker B, Mei H, Cleton-Jansen AM, Gelderblom H, van de Sande MAJ, Bovée JVMG. Palubeckaitė I, et al. Front Med (Lausanne). 2026 Mar 17;13:1754270. doi: 10.3389/fmed.2026.1754270. eCollection 2026. Front Med (Lausanne). 2026. PMID: 41924733 Free PMC article.
A lack of representative in vitro and in vivo models impedes therapeutic development, therefore we aimed to create 3D in vitro long term culture models directly from patient material. METHODS: Tumour cells from seven osteosarcoma patients were propagated in monolayer or co …
A lack of representative in vitro and in vivo models impedes therapeutic development, therefore we aimed to create 3D in vitro long term cul …
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Kotlarz D, Puchaka J, Krieger JR, Racek T, Kirchner T, Walters TD, Brumell JH, Griffiths AM, Rezaei N, Rashtian P, Najafi M, Monajemzadeh M, Pelsue S, McGovern DP, Uhlig HH, Schadt E, Klein C, Snapper SB, Muise AM. Avitzur Y, et al. Gastroenterology. 2014 Apr;146(4):1028-39. doi: 10.1053/j.gastro.2014.01.015. Epub 2014 Jan 11. Gastroenterology. 2014. PMID: 24417819 Free PMC article.
They have been associated with several gene variants. Our aim was to identify the genes that cause VEOIBD. METHODS: We performed whole exome sequencing of DNA from 1 infant with severe enterocolitis and her parents. ...Functional studies demonstrated that TTC …
They have been associated with several gene variants. Our aim was to identify the genes that cause VEOIBD. METHODS: We performed w …
Deep Sequencing in Conjunction with Expression and Functional Analyses Reveals Activation of FGFR1 in Ewing Sarcoma.
Agelopoulos K, Richter GH, Schmidt E, Dirksen U, von Heyking K, Moser B, Klein HU, Kontny U, Dugas M, Poos K, Korsching E, Buch T, Weckesser M, Schulze I, Besoke R, Witten A, Stoll M, Köhler G, Hartmann W, Wardelmann E, Rossig C, Baumhoer D, Jürgens H, Burdach S, Berdel WE, Müller-Tidow C. Agelopoulos K, et al. Clin Cancer Res. 2015 Nov 1;21(21):4935-46. doi: 10.1158/1078-0432.CCR-14-2744. Epub 2015 Jul 15. Clin Cancer Res. 2015. PMID: 26179511 Free article.
Whole-genome sequencing was performed on two patients with normal, primary, and relapsed tissue. Whole-exome sequencing was performed on 50 Ewing sarcoma and 22 matched normal tissues. ...Transcriptome analysis was performed in a subset of 14 of 50 Ewing sarc …
Whole-genome sequencing was performed on two patients with normal, primary, and relapsed tissue. Whole-exome sequencing was pe …