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Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.
Janeway KA, Kim SY, Lodish M, Nosé V, Rustin P, Gaal J, Dahia PL, Liegl B, Ball ER, Raygada M, Lai AH, Kelly L, Hornick JL; NIH Pediatric and Wild-Type GIST Clinic; O'Sullivan M, de Krijger RR, Dinjens WN, Demetri GD, Antonescu CR, Fletcher JA, Helman L, Stratakis CA. Janeway KA, et al. Among authors: kim sy. Proc Natl Acad Sci U S A. 2011 Jan 4;108(1):314-8. doi: 10.1073/pnas.1009199108. Epub 2010 Dec 20. Proc Natl Acad Sci U S A. 2011. PMID: 21173220 Free PMC article.
Succinate dehydrogenase mutation underlies global epigenomic divergence in gastrointestinal stromal tumor.
Killian JK, Kim SY, Miettinen M, Smith C, Merino M, Tsokos M, Quezado M, Smith WI Jr, Jahromi MS, Xekouki P, Szarek E, Walker RL, Lasota J, Raffeld M, Klotzle B, Wang Z, Jones L, Zhu Y, Wang Y, Waterfall JJ, O'Sullivan MJ, Bibikova M, Pacak K, Stratakis C, Janeway KA, Schiffman JD, Fan JB, Helman L, Meltzer PS. Killian JK, et al. Among authors: kim sy. Cancer Discov. 2013 Jun;3(6):648-57. doi: 10.1158/2159-8290.CD-13-0092. Epub 2013 Apr 2. Cancer Discov. 2013. PMID: 23550148 Free PMC article.
Post-transcriptional dysregulation by miRNAs is implicated in the pathogenesis of gastrointestinal stromal tumor [GIST].
Kelly L, Bryan K, Kim SY, Janeway KA, Killian JK, Schildhaus HU, Miettinen M, Helman L, Meltzer PS, van de Rijn M, Debiec-Rychter M, O'Sullivan M; NIH Pediatric and Wild-Type GIST Clinic. Kelly L, et al. Among authors: kim sy. PLoS One. 2013 May 24;8(5):e64102. doi: 10.1371/journal.pone.0064102. Print 2013. PLoS One. 2013. PMID: 23717541 Free PMC article.
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.
Boikos SA, Xekouki P, Fumagalli E, Faucz FR, Raygada M, Szarek E, Ball E, Kim SY, Miettinen M, Helman LJ, Carney JA, Pacak K, Stratakis CA. Boikos SA, et al. Among authors: kim sy. Eur J Hum Genet. 2016 Apr;24(4):569-73. doi: 10.1038/ejhg.2015.142. Epub 2015 Jul 15. Eur J Hum Genet. 2016. PMID: 26173966 Free PMC article.
The role of IGF-1R in pediatric malignancies.
Kim SY, Toretsky JA, Scher D, Helman LJ. Kim SY, et al. Oncologist. 2009 Jan;14(1):83-91. doi: 10.1634/theoncologist.2008-0189. Epub 2009 Jan 6. Oncologist. 2009. PMID: 19126579 Free PMC article. Review.
Recurrent epimutation of SDHC in gastrointestinal stromal tumors.
Killian JK, Miettinen M, Walker RL, Wang Y, Zhu YJ, Waterfall JJ, Noyes N, Retnakumar P, Yang Z, Smith WI Jr, Killian MS, Lau CC, Pineda M, Walling J, Stevenson H, Smith C, Wang Z, Lasota J, Kim SY, Boikos SA, Helman LJ, Meltzer PS. Killian JK, et al. Among authors: kim sy. Sci Transl Med. 2014 Dec 24;6(268):268ra177. doi: 10.1126/scitranslmed.3009961. Sci Transl Med. 2014. PMID: 25540324 Free PMC article.
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