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Sandro Santagata, Ph.D., M.D.

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Overview
overview
Stress Responses in Cancer Development and Progression:
We focus on understanding a fundamental challenge in tumor biology: how tumor cells develop their most aggressive behaviors and the mechanisms that they use to resist even the most sophisticated therapeutic regimens. One biological program that we focus on in this area is a potent adaptive mechanism: what has been classically called the heat shock response. So powerful is this program that it is used by even single cell organisms to survive scorching heat waves and other caustic environmental challenges. Our work has revealed that highly aggressive tumors across a broad range of tumor types co-opt the activity of heat shock factor 1 (HSF1), the dominant transcriptional regulator of this ancient survival program. The HSF1 transcriptional program differs when activated in cancer versus when it is activated in heat shock – how are the programs different, how are the programs regulated, how are tumor adaptive responses conscripted in cancer, how can the HSF1 program be modulated for therapeutic benefit. We use chemical and genetic approaches to address these questions in a range of cancer types including the most aggressive forms of cancer - melanoma and those of the brain, pancreas, ovary, breast and lung.

Molecular Genetics of Brain Tumors:
As molecular pathologists, we are eager to determine the molecular drivers of brain tumors and viable new therapeutic targets. We use genomic tools in our studies and are developing a range of diagnostic, prognostic and therapeutic biomarkers and cell line models of brain tumors. We work on meningioma, low grade pediatric gliomas (such as ganglioglioma and pleomorphic xanthoastrocytoma), craniopharyngioma and brain metastases aiming to spark new clinical trials and to support the characterization of clinical trial with validated biomarker assays.

New Tools for Characterizing Brain Tumors:
We are using high-powered imaging techniques to investigate the function of brain tumors. Along with close collaborators, we are implementing a range of mass spectrometry imaging techniques to investigate the molecular pathology of tumors and to attempt to bring mass spectrometry diagnostics into the operating room to assist with iterative real time tissue characterization. We have strong interests in a range of new ways of imaging and characterizing brain tumors.

Mentoring
completed student projects
The Role of the Ciliogenesis Gene Program in Gliomas
Summer, 02/01/15 - 09/04/15

Research
research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
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  1. R01CA194005 (SANTAGATA, SANDRO) Aug 11, 2016 - Jul 31, 2021
    NIH/NCI
    Investigating the HSF1 Cancer Network
    Role: Principal Investigator
  2. K08NS064168 (SANTAGATA, SANDRO) Sep 1, 2008 - Jul 31, 2013
    NIH/NINDS
    Heat Shock Directed Drug Discovery For The Treatment Of Gliomas
    Role: Principal Investigator

Featured Content

Bibliographic
selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Du Z, Brewster R, Merrill PH, Chmielecki J, Francis J, Aizer A, Abedalthagafi M, Sholl LM, Geffers L, Alexander B, Santagata S. Meningioma transcription factors link cell lineage with systemic metabolic cues. Neuro Oncol. 2018 Apr 12. PMID: 29660031.
    View in: PubMed
  2. Coy S, Rashid R, Lin JR, Du Z, Donson AM, Hankinson TC, Foreman NK, Manley PE, Kieran MW, Reardon DA, Sorger PK, Santagata S. Multiplexed Immunofluorescence Reveals Potential PD-1/PD-L1 Pathway Vulnerabilities in Craniopharyngioma. Neuro Oncol. 2018 Mar 02. PMID: 29509940.
    View in: PubMed
  3. Du Z, Santagata S. Uncovering the links between systemic hormones and oncogenic signaling in the pathogenesis of meningioma. Ann Oncol. 2018 Mar 01; 29(3):537-540. PMID: 29346520.
    View in: PubMed
  4. Mobark NA, Al-Harbi M, Mosleh O, Santagata S, Snuderl M, Abedalthagafi M. A case of molecularly profiled extraneural medulloblastoma metastases in a child. BMC Med Genet. 2018 Jan 17; 19(1):10. PMID: 29343221.
    View in: PubMed
  5. Rasool N, Lefebvre DR, Latina MA, Dunn IF, Santagata S, Freitag SK, Cestari DM. Orbital leiomyosarcoma metastasis presenting prior to diagnosis of the primary tumor. Digit J Ophthalmol. 2017; 23(4):22-26. PMID: 29403338.
    View in: PubMed
  6. Coroller TP, Bi WL, Huynh E, Abedalthagafi M, Aizer AA, Greenwald NF, Parmar C, Narayan V, Wu WW, Miranda de Moura S, Gupta S, Beroukhim R, Wen PY, Al-Mefty O, Dunn IF, Santagata S, Alexander BM, Huang RY, Aerts HJWL. Radiographic prediction of meningioma grade by semantic and radiomic features. PLoS One. 2017; 12(11):e0187908. PMID: 29145421.
    View in: PubMed
  7. Shankar GM, Santagata S. BAP1 mutations in high-grade meningioma: implications for patient care. Neuro Oncol. 2017 Oct 19; 19(11):1447-1456. PMID: 28482042.
    View in: PubMed
  8. Coy S, Dubuc AM, Dahiya S, Ligon KL, Vasiljevic A, Santagata S. Nuclear CRX and FOXJ1 Expression Differentiates Non-Germ Cell Pineal Region Tumors and Supports the Ependymal Differentiation of Papillary Tumor of the Pineal Region. Am J Surg Pathol. 2017 Oct; 41(10):1410-1421. PMID: 28719464.
    View in: PubMed
  9. Mei Y, Du Z, Hu C, Greenwald NF, Abedalthagafi M, Agar NYR, Dunn GP, Bi WL, Santagata S, Dunn IF. Osteoglycin promotes meningioma development through downregulation of NF2 and activation of mTOR signaling. Cell Commun Signal. 2017 09 18; 15(1):34. PMID: 28923059.
    View in: PubMed
  10. Bi WL, Greenwald NF, Abedalthagafi M, Wala J, Gibson WJ, Agarwalla PK, Horowitz P, Schumacher SE, Esaulova E, Mei Y, Chevalier A, A Ducar M, Thorner AR, van Hummelen P, O Stemmer-Rachamimov A, Artyomov M, Al-Mefty O, Dunn GP, Santagata S, Dunn IF, Beroukhim R. Erratum: Genomic landscape of high-grade meningiomas. NPJ Genom Med. 2017; 2:26. PMID: 29263836.
    View in: PubMed
  11. Bi WL, Greenwald NF, Ramkissoon SH, Abedalthagafi M, Coy SM, Ligon KL, Mei Y, MacConaill L, Ducar M, Min L, Santagata S, Kaiser UB, Beroukhim R, Laws ER, Dunn IF. Clinical Identification of Oncogenic Drivers and Copy-Number Alterations in Pituitary Tumors. Endocrinology. 2017 07 01; 158(7):2284-2291. PMID: 28486603.
    View in: PubMed
  12. Ramkissoon SH, Bandopadhayay P, Hwang J, Ramkissoon LA, Greenwald NF, Schumacher SE, O'Rourke R, Pinches N, Ho P, Malkin H, Sinai C, Filbin M, Plant A, Bi WL, Chang MS, Yang E, Wright KD, Manley PE, Ducar M, Alexandrescu S, Lidov H, Delalle I, Goumnerova LC, Church AJ, Janeway KA, Harris MH, MacConaill LE, Folkerth RD, Lindeman NI, Stiles CD, Kieran MW, Ligon AH, Santagata S, Dubuc AM, Chi SN, Beroukhim R, Ligon KL. Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors. Neuro Oncol. 2017 Jul 01; 19(7):986-996. PMID: 28104717.
    View in: PubMed
  13. Bi WL, Greenwald NF, Abedalthagafi M, Wala J, Gibson WJ, Agarwalla PK, Horowitz P, Schumacher SE, Esaulova E, Mei Y, Chevalier A, Ducar M, Thorner AR, van Hummelen P, Stemmer-Rachamimov A, Artyomov M, Al-Mefty O, Dunn GP, Santagata S, Dunn IF, Beroukhim R. Genomic landscape of high-grade meningiomas. NPJ Genom Med. 2017; 2. PMID: 28713588.
    View in: PubMed
  14. Shankar GM, Abedalthagafi M, Vaubel RA, Merrill PH, Nayyar N, Gill CM, Brewster R, Bi WL, Agarwalla PK, Thorner AR, Reardon DA, Al-Mefty O, Wen PY, Alexander BM, van Hummelen P, Batchelor TT, Ligon KL, Ligon AH, Meyerson M, Dunn IF, Beroukhim R, Louis DN, Perry A, Carter SL, Giannini C, Curry WT, Cahill DP, Barker FG, Brastianos PK, Santagata S. Germline and somatic BAP1 mutations in high-grade rhabdoid meningiomas. Neuro Oncol. 2017 04 01; 19(4):535-545. PMID: 28170043.
    View in: PubMed
  15. Alvarez-Breckenridge C, Miller JJ, Nayyar N, Gill CM, Kaneb A, D'Andrea M, Le LP, Lee J, Cheng J, Zheng Z, Butler WE, Multani P, Chow Maneval E, Ha Paek S, Toyota BD, Dias-Santagata D, Santagata S, Romero J, Shaw AT, Farago AF, Yip S, Cahill DP, Batchelor TT, Iafrate AJ, Brastianos PK. Clinical and radiographic response following targeting of BCAN-NTRK1 fusion in glioneuronal tumor. NPJ Precis Oncol. 2017; 1(1):5. PMID: 29872694.
    View in: PubMed
  16. Solomon IH, Ciarlini PDSC, Santagata S, Ahmed AA, De Girolami U, Prasad S, Mukerji SS. Fatal Eastern Equine Encephalitis in a Patient on Maintenance Rituximab: A Case Report. Open Forum Infect Dis. 2017; 4(1):ofx021. PMID: 28480291.
    View in: PubMed
  17. Huang KT, Ludy S, Calligaris D, Dunn IF, Laws E, Santagata S, Agar NY. Rapid Mass Spectrometry Imaging to Assess the Biochemical Profile of Pituitary Tissue for Potential Intraoperative Usage. Adv Cancer Res. 2017; 134:257-282. PMID: 28110653.
    View in: PubMed
  18. Tsvetkov P, Sokol E, Jin D, Brune Z, Thiru P, Ghandi M, Garraway LA, Gupta PB, Santagata S, Whitesell L, Lindquist S. Suppression of 19S proteasome subunits marks emergence of an altered cell state in diverse cancers. Proc Natl Acad Sci U S A. 2017 01 10; 114(2):382-387. PMID: 28028240.
    View in: PubMed
  19. Robinson LC, Santagata S, Hankinson TC. Potential evolution of neurosurgical treatment paradigms for craniopharyngioma based on genomic and transcriptomic characteristics. Neurosurg Focus. 2016 Dec; 41(6):E3. PMID: 27903126.
    View in: PubMed
  20. Martinez-Gutierrez JC, D'Andrea MR, Cahill DP, Santagata S, Barker FG, Brastianos PK. Diagnosis and management of craniopharyngiomas in the era of genomics and targeted therapy. Neurosurg Focus. 2016 Dec; 41(6):E2. PMID: 27903124.
    View in: PubMed
  21. Whitesell L, Santagata S. Susan Lindquist (1949-2016). Science. 2016 Nov 25; 354(6315):974. PMID: 27884995.
    View in: PubMed
  22. Strickland MR, Gill CM, Nayyar N, D'Andrea MR, Thiede C, Juratli TA, Schackert G, Borger DR, Santagata S, Frosch MP, Cahill DP, Brastianos PK, Barker FG. Targeted sequencing of SMO and AKT1 in anterior skull base meningiomas. J Neurosurg. 2017 Aug; 127(2):438-444. PMID: 27885953.
    View in: PubMed
  23. Mei Y, Bi WL, Greenwald NF, Du Z, Agar NY, Kaiser UB, Woodmansee WW, Reardon DA, Freeman GJ, Fecci PE, Laws ER, Santagata S, Dunn GP, Dunn IF. Increased expression of programmed death ligand 1 (PD-L1) in human pituitary tumors. Oncotarget. 2016 Nov 22; 7(47):76565-76576. PMID: 27655724.
    View in: PubMed
  24. Dagogo-Jack I, Gill CM, Cahill DP, Santagata S, Brastianos PK. Treatment of brain metastases in the modern genomic era. Pharmacol Ther. 2017 Feb; 170:64-72. PMID: 27773784.
    View in: PubMed
  25. Bi WL, Horowitz P, Greenwald NF, Abedalthagafi M, Agarwalla PK, Gibson WJ, Mei Y, Schumacher SE, Ben-David U, Chevalier A, Carter S, Tiao G, Brastianos PK, Ligon AH, Ducar M, MacConaill L, Laws ER, Santagata S, Beroukhim R, Dunn IF. Landscape of Genomic Alterations in Pituitary Adenomas. Clin Cancer Res. 2017 Apr 01; 23(7):1841-1851. PMID: 27707790.
    View in: PubMed
  26. Coy S, Du Z, Sheu SH, Woo T, Rodriguez FJ, Kieran MW, Santagata S. Distinct patterns of primary and motile cilia in Rathke's cleft cysts and craniopharyngioma subtypes. Mod Pathol. 2016 Dec; 29(12):1446-1459. PMID: 27562488.
    View in: PubMed
  27. Coroller T, Bi W, Abedalthagafi M, Aizer A, Wu W, Greenwald N, Beroukhim R, Al-Mefty O, Santagata S, Dunn I, Alexander B, Huang R, Aerts H. SU-D-207B-02: Early Grade Classification in Meningioma Patients Combining Radiomics and Semantics Data. Med Phys. 2016 Jun; 43(6):3348-3349. PMID: 28048264.
    View in: PubMed
  28. Bi WL, Wu WW, Santagata S, Reardon DA, Dunn IF. Checkpoint inhibition in meningiomas. Immunotherapy. 2016 06; 8(6):721-31. PMID: 27197540.
    View in: PubMed
  29. Lu FK, Calligaris D, Olubiyi OI, Norton I, Yang W, Santagata S, Xie XS, Golby AJ, Agar NY. Label-Free Neurosurgical Pathology with Stimulated Raman Imaging. Cancer Res. 2016 06 15; 76(12):3451-62. PMID: 27197198; PMCID: PMC4911248 [Available on 06/15/17].
    View in: PubMed, PubMed Central
  30. Abedalthagafi MS, Wu MP, Merrill PH, Du Z, Woo T, Sheu SH, Hurwitz S, Ligon KL, Santagata S. Decreased FOXJ1 expression and its ciliogenesis programme in aggressive ependymoma and choroid plexus tumours. J Pathol. 2016 Mar; 238(4):584-97. PMID: 26690880.
    View in: PubMed
  31. Bandopadhayay P, Ramkissoon LA, Jain P, Bergthold G, Wala J, Zeid R, Schumacher SE, Urbanski L, O'Rourke R, Gibson WJ, Pelton K, Ramkissoon SH, Han HJ, Zhu Y, Choudhari N, Silva A, Boucher K, Henn RE, Kang YJ, Knoff D, Paolella BR, Gladden-Young A, Varlet P, Pages M, Horowitz PM, Federation A, Malkin H, Tracy AA, Seepo S, Ducar M, Van Hummelen P, Santi M, Buccoliero AM, Scagnet M, Bowers DC, Giannini C, Puget S, Hawkins C, Tabori U, Klekner A, Bognar L, Burger PC, Eberhart C, Rodriguez FJ, Hill DA, Mueller S, Haas-Kogan DA, Phillips JJ, Santagata S, Stiles CD, Bradner JE, Jabado N, Goren A, Grill J, Ligon AH, Goumnerova L, Waanders AJ, Storm PB, Kieran MW, Ligon KL, Beroukhim R, Resnick AC. MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism. Nat Genet. 2016 Mar; 48(3):273-82. PMID: 26829751; PMCID: PMC4767685.
    View in: PubMed, PubMed Central
  32. Abedalthagafi M, Bi WL, Aizer AA, Merrill PH, Brewster R, Agarwalla PK, Listewnik ML, Dias-Santagata D, Thorner AR, Van Hummelen P, Brastianos PK, Reardon DA, Wen PY, Al-Mefty O, Ramkissoon SH, Folkerth RD, Ligon KL, Ligon AH, Alexander BM, Dunn IF, Beroukhim R, Santagata S. Oncogenic PI3K mutations are as common as AKT1 and SMO mutations in meningioma. Neuro Oncol. 2016 05; 18(5):649-55. PMID: 26826201; PMCID: PMC4827048 [Available on 05/01/17].
    View in: PubMed, PubMed Central
  33. Bi WL, Abedalthagafi M, Horowitz P, Agarwalla PK, Mei Y, Aizer AA, Brewster R, Dunn GP, Al-Mefty O, Alexander BM, Santagata S, Beroukhim R, Dunn IF. Genomic landscape of intracranial meningiomas. J Neurosurg. 2016 Sep; 125(3):525-35. PMID: 26771848.
    View in: PubMed
  34. Brastianos PK, Santagata S. ENDOCRINE TUMORS: BRAF V600E mutations in papillary craniopharyngioma. Eur J Endocrinol. 2016 Apr; 174(4):R139-44. PMID: 26563980; PMCID: PMC4876601.
    View in: PubMed, PubMed Central
  35. Brastianos PK, Shankar GM, Gill CM, Taylor-Weiner A, Nayyar N, Panka DJ, Sullivan RJ, Frederick DT, Abedalthagafi M, Jones PS, Dunn IF, Nahed BV, Romero JM, Louis DN, Getz G, Cahill DP, Santagata S, Curry WT, Barker FG. Dramatic Response of BRAF V600E Mutant Papillary Craniopharyngioma to Targeted Therapy. J Natl Cancer Inst. 2016 Feb; 108(2). PMID: 26498373; PMCID: PMC4862417 [Available on 02/01/17].
    View in: PubMed, PubMed Central
  36. Brastianos PK, Carter SL, Santagata S, Cahill DP, Taylor-Weiner A, Jones RT, Van Allen EM, Lawrence MS, Horowitz PM, Cibulskis K, Ligon KL, Tabernero J, Seoane J, Martinez-Saez E, Curry WT, Dunn IF, Paek SH, Park SH, McKenna A, Chevalier A, Rosenberg M, Barker FG, Gill CM, Van Hummelen P, Thorner AR, Johnson BE, Hoang MP, Choueiri TK, Signoretti S, Sougnez C, Rabin MS, Lin NU, Winer EP, Stemmer-Rachamimov A, Meyerson M, Garraway L, Gabriel S, Lander ES, Beroukhim R, Batchelor TT, Baselga J, Louis DN, Getz G, Hahn WC. Genomic Characterization of Brain Metastases Reveals Branched Evolution and Potential Therapeutic Targets. Cancer Discov. 2015 Nov; 5(11):1164-1177. PMID: 26410082; PMCID: PMC4916970.
    View in: PubMed, PubMed Central
  37. Tsvetkov P, Mendillo ML, Zhao J, Carette JE, Merrill PH, Cikes D, Varadarajan M, van Diemen FR, Penninger JM, Goldberg AL, Brummelkamp TR, Santagata S, Lindquist S. Compromising the 19S proteasome complex protects cells from reduced flux through the proteasome. Elife. 2015 Sep 01; 4. PMID: 26327695; PMCID: PMC4551903.
    View in: PubMed, PubMed Central
  38. Aizer AA, Abedalthagafi M, Bi WL, Horvath MC, Arvold ND, Al-Mefty O, Lee EQ, Nayak L, Rinne ML, Norden AD, Reardon DA, Wen PY, Ligon KL, Ligon AH, Beroukhim R, Dunn IF, Santagata S, Alexander BM. A prognostic cytogenetic scoring system to guide the adjuvant management of patients with atypical meningioma. Neuro Oncol. 2016 Feb; 18(2):269-74. PMID: 26323607; PMCID: PMC4724184 [Available on 02/01/17].
    View in: PubMed, PubMed Central
  39. Calligaris D, Feldman DR, Norton I, Olubiyi O, Changelian AN, Machaidze R, Vestal ML, Laws ER, Dunn IF, Santagata S, Agar NY. MALDI mass spectrometry imaging analysis of pituitary adenomas for near-real-time tumor delineation. Proc Natl Acad Sci U S A. 2015 Aug 11; 112(32):9978-83. PMID: 26216958; PMCID: PMC4538649.
    View in: PubMed, PubMed Central
  40. Kertesz V, Calligaris D, Feldman DR, Changelian A, Laws ER, Santagata S, Agar NY, Van Berkel GJ. Profiling of adrenocorticotropic hormone and arginine vasopressin in human pituitary gland and tumor thin tissue sections using droplet-based liquid-microjunction surface-sampling-HPLC-ESI-MS-MS. Anal Bioanal Chem. 2015 Aug; 407(20):5989-98. PMID: 26084546; PMCID: PMC4514558.
    View in: PubMed, PubMed Central
  41. Olubiyi OI, Ozdemir A, Incekara F, Tie Y, Dolati P, Hsu L, Santagata S, Chen Z, Rigolo L, Golby AJ. Intraoperative Magnetic Resonance Imaging in Intracranial Glioma Resection: A Single-Center, Retrospective Blinded Volumetric Study. World Neurosurg. 2015 Aug; 84(2):528-36. PMID: 25937354; PMCID: PMC4532608.
    View in: PubMed, PubMed Central
  42. Bergthold G, Bandopadhayay P, Hoshida Y, Ramkissoon S, Ramkissoon L, Rich B, Maire CL, Paolella BR, Schumacher SE, Tabak B, Ferrer-Luna R, Ozek M, Sav A, Santagata S, Wen PY, Goumnerova LC, Ligon AH, Stiles C, Segal R, Golub T, Grill J, Ligon KL, Chan JA, Kieran MW, Beroukhim R. Expression profiles of 151 pediatric low-grade gliomas reveal molecular differences associated with location and histological subtype. Neuro Oncol. 2015 Nov; 17(11):1486-96. PMID: 25825052; PMCID: PMC4648300 [Available on 11/01/16].
    View in: PubMed, PubMed Central
  43. Abedalthagafi MS, Bi WL, Merrill PH, Gibson WJ, Rose MF, Du Z, Francis JM, Du R, Dunn IF, Ligon AH, Beroukhim R, Santagata S. ARID1A and TERT promoter mutations in dedifferentiated meningioma. Cancer Genet. 2015 Jun; 208(6):345-50. PMID: 25963524; PMCID: PMC4882906.
    View in: PubMed, PubMed Central
  44. Du Z, Abedalthagafi M, Aizer AA, McHenry AR, Sun HH, Bray MA, Viramontes O, Machaidze R, Brastianos PK, Reardon DA, Dunn IF, Freeman GJ, Ligon KL, Carpenter AE, Alexander BM, Agar NY, Rodig SJ, Bradshaw EM, Santagata S. Increased expression of the immune modulatory molecule PD-L1 (CD274) in anaplastic meningioma. Oncotarget. 2015 Mar 10; 6(7):4704-16. PMID: 25609200; PMCID: PMC4467109.
    View in: PubMed, PubMed Central
  45. Ramkissoon SH, Bi WL, Schumacher SE, Ramkissoon LA, Haidar S, Knoff D, Dubuc A, Brown L, Burns M, Cryan JB, Abedalthagafi M, Kang YJ, Schultz N, Reardon DA, Lee EQ, Rinne ML, Norden AD, Nayak L, Ruland S, Doherty LM, LaFrankie DC, Horvath M, Aizer AA, Russo A, Arvold ND, Claus EB, Al-Mefty O, Johnson MD, Golby AJ, Dunn IF, Chiocca EA, Trippa L, Santagata S, Folkerth RD, Kantoff P, Rollins BJ, Lindeman NI, Wen PY, Ligon AH, Beroukhim R, Alexander BM, Ligon KL. Clinical implementation of integrated whole-genome copy number and mutation profiling for glioblastoma. Neuro Oncol. 2015 Oct; 17(10):1344-55. PMID: 25754088; PMCID: PMC4578577 [Available on 10/01/16].
    View in: PubMed, PubMed Central
  46. Calligaris D, Feldman DR, Norton I, Brastianos PK, Dunn IF, Santagata S, Agar NY. Molecular typing of Meningiomas by Desorption Electrospray Ionization Mass Spectrometry Imaging for Surgical Decision-Making. Int J Mass Spectrom. 2015 Feb 01; 377:690-698. PMID: 25844057.
    View in: PubMed
  47. Shankar GM, Taylor-Weiner A, Lelic N, Jones RT, Kim JC, Francis JM, Abedalthagafi M, Borges LF, Coumans JV, Curry WT, Nahed BV, Shin JH, Paek SH, Park SH, Stewart C, Lawrence MS, Cibulskis K, Thorner AR, Van Hummelen P, Stemmer-Rachamimov AO, Batchelor TT, Carter SL, Hoang MP, Santagata S, Louis DN, Barker FG, Meyerson M, Getz G, Brastianos PK, Cahill DP. Sporadic hemangioblastomas are characterized by cryptic VHL inactivation. Acta Neuropathol Commun. 2014 Dec 24; 2:167. PMID: 25589003; PMCID: PMC4297409.
    View in: PubMed, PubMed Central
  48. Whitesell L, Santagata S, Mendillo ML, Lin NU, Proia DA, Lindquist S. HSP90 empowers evolution of resistance to hormonal therapy in human breast cancer models. Proc Natl Acad Sci U S A. 2014 Dec 23; 111(51):18297-302. PMID: 25489079; PMCID: PMC4280614.
    View in: PubMed, PubMed Central
  49. Jones RT, Abedalthagafi MS, Brahmandam M, Greenfield EA, Hoang MP, Louis DN, Hornick JL, Santagata S. Cross-reactivity of the BRAF VE1 antibody with epitopes in axonemal dyneins leads to staining of cilia. Mod Pathol. 2015 Apr; 28(4):596-606. PMID: 25412847.
    View in: PubMed
  50. Abedalthagafi MS, Merrill PH, Bi WL, Jones RT, Listewnik ML, Ramkissoon SH, Thorner AR, Dunn IF, Beroukhim R, Alexander BM, Brastianos PK, Francis JM, Folkerth RD, Ligon KL, Van Hummelen P, Ligon AH, Santagata S. Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5. Oncotarget. 2014 Nov 15; 5(21):10596-606. PMID: 25347344; PMCID: PMC4279396.
    View in: PubMed, PubMed Central
  51. Cryan JB, Haidar S, Ramkissoon LA, Bi WL, Knoff DS, Schultz N, Abedalthagafi M, Brown L, Wen PY, Reardon DA, Dunn IF, Folkerth RD, Santagata S, Lindeman NI, Ligon AH, Beroukhim R, Hornick JL, Alexander BM, Ligon KL, Ramkissoon SH. Clinical multiplexed exome sequencing distinguishes adult oligodendroglial neoplasms from astrocytic and mixed lineage gliomas. Oncotarget. 2014 Sep 30; 5(18):8083-92. PMID: 25257301; PMCID: PMC4226668.
    View in: PubMed, PubMed Central
  52. Santagata S, Ince TA. Normal cell phenotypes of breast epithelial cells provide the foundation of a breast cancer taxonomy. Expert Rev Anticancer Ther. 2014 Dec; 14(12):1385-9. PMID: 25263303; PMCID: PMC4688891.
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  53. Calligaris D, Caragacianu D, Liu X, Norton I, Thompson CJ, Richardson AL, Golshan M, Easterling ML, Santagata S, Dillon DA, Jolesz FA, Agar NY. Application of desorption electrospray ionization mass spectrometry imaging in breast cancer margin analysis. Proc Natl Acad Sci U S A. 2014 Oct 21; 111(42):15184-9. PMID: 25246570; PMCID: PMC4210338.
    View in: PubMed, PubMed Central
  54. Lee EQ, Ruland S, LeBoeuf NR, Wen PY, Santagata S. Successful Treatment of a Progressive BRAF V600E-Mutated Anaplastic Pleomorphic Xanthoastrocytoma With Vemurafenib Monotherapy. J Clin Oncol. 2016 Apr 01; 34(10):e87-9. PMID: 25092772.
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  55. Scherz-Shouval R, Santagata S, Mendillo ML, Sholl LM, Ben-Aharon I, Beck AH, Dias-Santagata D, Koeva M, Stemmer SM, Whitesell L, Lindquist S. The reprogramming of tumor stroma by HSF1 is a potent enabler of malignancy. Cell. 2014 Jul 31; 158(3):564-78. PMID: 25083868; PMCID: PMC4249939.
    View in: PubMed, PubMed Central
  56. Ieranò C, Santagata S, Napolitano M, Guardia F, Grimaldi A, Antignani E, Botti G, Consales C, Riccio A, Nanayakkara M, Barone MV, Caraglia M, Scala S. CXCR4 and CXCR7 transduce through mTOR in human renal cancer cells. Cell Death Dis. 2014 Jul 03; 5:e1310. PMID: 24991762; PMCID: PMC4123065.
    View in: PubMed, PubMed Central
  57. Santagata S, Eberlin LS, Norton I, Calligaris D, Feldman DR, Ide JL, Liu X, Wiley JS, Vestal ML, Ramkissoon SH, Orringer DA, Gill KK, Dunn IF, Dias-Santagata D, Ligon KL, Jolesz FA, Golby AJ, Cooks RG, Agar NY. Intraoperative mass spectrometry mapping of an onco-metabolite to guide brain tumor surgery. Proc Natl Acad Sci U S A. 2014 Jul 29; 111(30):11121-6. PMID: 24982150; PMCID: PMC4121790.
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  58. Aizer AA, Arvold ND, Catalano P, Claus EB, Golby AJ, Johnson MD, Al-Mefty O, Wen PY, Reardon DA, Lee EQ, Nayak L, Rinne ML, Beroukhim R, Weiss SE, Ramkissoon SH, Abedalthagafi M, Santagata S, Dunn IF, Alexander BM. Adjuvant radiation therapy, local recurrence, and the need for salvage therapy in atypical meningioma. Neuro Oncol. 2014 Nov; 16(11):1547-53. PMID: 24891451; PMCID: PMC4201070.
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  59. Auclair JR, Salisbury JP, Johnson JL, Petsko GA, Ringe D, Bosco DA, Agar NY, Santagata S, Durham HD, Agar JN. Artifacts to avoid while taking advantage of top-down mass spectrometry based detection of protein S-thiolation. Proteomics. 2014 May; 14(10):1152-7. PMID: 24634066; PMCID: PMC4507715.
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  60. Wijeratne EM, Xu YM, Scherz-Shouval R, Marron MT, Rocha DD, Liu MX, Costa-Lotufo LV, Santagata S, Lindquist S, Whitesell L, Gunatilaka AA. Structure-activity relationships for withanolides as inducers of the cellular heat-shock response. J Med Chem. 2014 Apr 10; 57(7):2851-63. PMID: 24625088.
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  61. Rose MF, Zimmerman EE, Hsu L, Golby AJ, Saleh E, Folkerth RD, Santagata SS, Milner DA, Ramkissoon SH. Atypical presentation of cerebral schistosomiasis four years after exposure to Schistosoma mansoni. Epilepsy Behav Case Rep. 2014; 2:80-5. PMID: 25667876; PMCID: PMC4308089.
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  62. Filone CM, Caballero IS, Dower K, Mendillo ML, Cowley GS, Santagata S, Rozelle DK, Yen J, Rubins KH, Hacohen N, Root DE, Hensley LE, Connor J. The master regulator of the cellular stress response (HSF1) is critical for orthopoxvirus infection. PLoS Pathog. 2014 Feb; 10(2):e1003904. PMID: 24516381; PMCID: PMC3916389.
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  63. Santagata S, Thakkar A, Ergonul A, Wang B, Woo T, Hu R, Harrell JC, McNamara G, Schwede M, Culhane AC, Kindelberger D, Rodig S, Richardson A, Schnitt SJ, Tamimi RM, Ince TA. Taxonomy of breast cancer based on normal cell phenotype predicts outcome. J Clin Invest. 2014 Feb; 124(2):859-70. PMID: 24463450; PMCID: PMC3904619.
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  64. Wen PY, Chang SM, Lamborn KR, Kuhn JG, Norden AD, Cloughesy TF, Robins HI, Lieberman FS, Gilbert MR, Mehta MP, Drappatz J, Groves MD, Santagata S, Ligon AH, Yung WK, Wright JJ, Dancey J, Aldape KD, Prados MD, Ligon KL. Phase I/II study of erlotinib and temsirolimus for patients with recurrent malignant gliomas: North American Brain Tumor Consortium trial 04-02. Neuro Oncol. 2014 Apr; 16(4):567-78. PMID: 24470557; PMCID: PMC3956354.
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  65. Brastianos PK, Taylor-Weiner A, Manley PE, Jones RT, Dias-Santagata D, Thorner AR, Lawrence MS, Rodriguez FJ, Bernardo LA, Schubert L, Sunkavalli A, Shillingford N, Calicchio ML, Lidov HG, Taha H, Martinez-Lage M, Santi M, Storm PB, Lee JY, Palmer JN, Adappa ND, Scott RM, Dunn IF, Laws ER, Stewart C, Ligon KL, Hoang MP, Van Hummelen P, Hahn WC, Louis DN, Resnick AC, Kieran MW, Getz G, Santagata S. Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas. Nat Genet. 2014 Feb; 46(2):161-5. PMID: 24413733; PMCID: PMC3982316.
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  66. Calligaris D, Norton I, Feldman DR, Ide JL, Dunn IF, Eberlin LS, Cooks RG, Jolesz FA, Golby AJ, Santagata S, Agar NY. Mass spectrometry imaging as a tool for surgical decision-making. J Mass Spectrom. 2013 Nov; 48(11):i. PMID: 24259214.
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  67. Liu X, Ide JL, Norton I, Marchionni MA, Ebling MC, Wang LY, Davis E, Sauvageot CM, Kesari S, Kellersberger KA, Easterling ML, Santagata S, Stuart DD, Alberta J, Agar JN, Stiles CD, Agar NY. Molecular imaging of drug transit through the blood-brain barrier with MALDI mass spectrometry imaging. Sci Rep. 2013 Oct 04; 3:2859. PMID: 24091529; PMCID: PMC3790202.
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  68. Ji M, Orringer DA, Freudiger CW, Ramkissoon S, Liu X, Lau D, Golby AJ, Norton I, Hayashi M, Agar NY, Young GS, Spino C, Santagata S, Camelo-Piragua S, Ligon KL, Sagher O, Xie XS. Rapid, label-free detection of brain tumors with stimulated Raman scattering microscopy. Sci Transl Med. 2013 Sep 04; 5(201):201ra119. PMID: 24005159; PMCID: PMC3806096.
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  69. Santagata S, Mendillo ML, Tang YC, Subramanian A, Perley CC, Roche SP, Wong B, Narayan R, Kwon H, Koeva M, Amon A, Golub TR, Porco JA, Whitesell L, Lindquist S. Tight coordination of protein translation and HSF1 activation supports the anabolic malignant state. Science. 2013 Jul 19; 341(6143):1238303. PMID: 23869022; PMCID: PMC3959726.
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  70. Taipale M, Krykbaeva I, Whitesell L, Santagata S, Zhang J, Liu Q, Gray NS, Lindquist S. Chaperones as thermodynamic sensors of drug-target interactions reveal kinase inhibitor specificities in living cells. Nat Biotechnol. 2013 Jul; 31(7):630-7. PMID: 23811600; PMCID: PMC3774174.
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  71. Ramkissoon LA, Horowitz PM, Craig JM, Ramkissoon SH, Rich BE, Schumacher SE, McKenna A, Lawrence MS, Bergthold G, Brastianos PK, Tabak B, Ducar MD, Van Hummelen P, MacConaill LE, Pouissant-Young T, Cho YJ, Taha H, Mahmoud M, Bowers DC, Margraf L, Tabori U, Hawkins C, Packer RJ, Hill DA, Pomeroy SL, Eberhart CG, Dunn IF, Goumnerova L, Getz G, Chan JA, Santagata S, Hahn WC, Stiles CD, Ligon AH, Kieran MW, Beroukhim R, Ligon KL. Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1. Proc Natl Acad Sci U S A. 2013 May 14; 110(20):8188-93. PMID: 23633565; PMCID: PMC3657784.
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  72. Silverman MA, Misasi J, Smole S, Feldman HA, Cohen AB, Santagata S, McManus M, Ahmed AA. Eastern equine encephalitis in children, Massachusetts and New Hampshire,USA, 1970-2010. Emerg Infect Dis. 2013 Feb; 19(2):194-201; quiz 352. PMID: 23343480.
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  73. Brastianos PK, Horowitz PM, Santagata S, Jones RT, McKenna A, Getz G, Ligon KL, Palescandolo E, Van Hummelen P, Ducar MD, Raza A, Sunkavalli A, Macconaill LE, Stemmer-Rachamimov AO, Louis DN, Hahn WC, Dunn IF, Beroukhim R. Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. Nat Genet. 2013 Mar; 45(3):285-9. PMID: 23334667; PMCID: PMC3739288.
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  74. Eberlin LS, Norton I, Orringer D, Dunn IF, Liu X, Ide JL, Jarmusch AK, Ligon KL, Jolesz FA, Golby AJ, Santagata S, Agar NY, Cooks RG. Ambient mass spectrometry for the intraoperative molecular diagnosis of human brain tumors. Proc Natl Acad Sci U S A. 2013 Jan 29; 110(5):1611-6. PMID: 23300285; PMCID: PMC3562800.
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  75. Whitesell L, Santagata S, Lin NU. Inhibiting HSP90 to treat cancer: a strategy in evolution. Curr Mol Med. 2012 Nov 01; 12(9):1108-24. PMID: 22804235.
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  76. Dai C, Santagata S, Tang Z, Shi J, Cao J, Kwon H, Bronson RT, Whitesell L, Lindquist S. Loss of tumor suppressor NF1 activates HSF1 to promote carcinogenesis. J Clin Invest. 2012 Oct; 122(10):3742-54. PMID: 22945628; PMCID: PMC3461912.
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  77. Mendillo ML, Santagata S, Koeva M, Bell GW, Hu R, Tamimi RM, Fraenkel E, Ince TA, Whitesell L, Lindquist S. HSF1 drives a transcriptional program distinct from heat shock to support highly malignant human cancers. Cell. 2012 Aug 03; 150(3):549-62. PMID: 22863008; PMCID: PMC3438889.
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  78. Craig JM, Vena N, Ramkissoon S, Idbaih A, Fouse SD, Ozek M, Sav A, Hill DA, Margraf LR, Eberhart CG, Kieran MW, Norden AD, Wen PY, Loda M, Santagata S, Ligon KL, Ligon AH. DNA fragmentation simulation method (FSM) and fragment size matching improve aCGH performance of FFPE tissues. PLoS One. 2012; 7(6):e38881. PMID: 22719973; PMCID: PMC3376148.
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  79. Eberlin LS, Norton I, Dill AL, Golby AJ, Ligon KL, Santagata S, Cooks RG, Agar NY. Classifying human brain tumors by lipid imaging with mass spectrometry. Cancer Res. 2012 Feb 01; 72(3):645-54. PMID: 22139378; PMCID: PMC3271168.
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  80. Santagata S, Xu YM, Wijeratne EM, Kontnik R, Rooney C, Perley CC, Kwon H, Clardy J, Kesari S, Whitesell L, Lindquist S, Gunatilaka AA. Using the heat-shock response to discover anticancer compounds that target protein homeostasis. ACS Chem Biol. 2012 Feb 17; 7(2):340-9. PMID: 22050377; PMCID: PMC3291478.
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  81. Santagata S, Hu R, Lin NU, Mendillo ML, Collins LC, Hankinson SE, Schnitt SJ, Whitesell L, Tamimi RM, Lindquist S, Ince TA. High levels of nuclear heat-shock factor 1 (HSF1) are associated with poor prognosis in breast cancer. Proc Natl Acad Sci U S A. 2011 Nov 08; 108(45):18378-83. PMID: 22042860; PMCID: PMC3215027.
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  82. Eberlin LS, Liu X, Ferreira CR, Santagata S, Agar NY, Cooks RG. Desorption electrospray ionization then MALDI mass spectrometry imaging of lipid and protein distributions in single tissue sections. Anal Chem. 2011 Nov 15; 83(22):8366-71. PMID: 21975048; PMCID: PMC3229813.
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  83. Mahta A, Qu Y, Nastic D, Sundstrom M, Kim RY, Saria M, Santagata S, Kesari S. Relapsing tumefactive lesion in an adult with medulloblastoma previously treated with chemoradiotherapy and stem cell transplant. Pathol Oncol Res. 2012 Apr; 18(2):539-43. PMID: 21953324.
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  84. Tian Y, Rich BE, Vena N, Craig JM, Macconaill LE, Rajaram V, Goldman S, Taha H, Mahmoud M, Ozek M, Sav A, Longtine JA, Lindeman NI, Garraway LA, Ligon AH, Stiles CD, Santagata S, Chan JA, Kieran MW, Ligon KL. Detection of KIAA1549-BRAF fusion transcripts in formalin-fixed paraffin-embedded pediatric low-grade gliomas. J Mol Diagn. 2011 Nov; 13(6):669-77. PMID: 21884820; PMCID: PMC3194058.
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  85. Dias-Santagata D, Lam Q, Vernovsky K, Vena N, Lennerz JK, Borger DR, Batchelor TT, Ligon KL, Iafrate AJ, Ligon AH, Louis DN, Santagata S. BRAF V600E mutations are common in pleomorphic xanthoastrocytoma: diagnostic and therapeutic implications. PLoS One. 2011 Mar 29; 6(3):e17948. PMID: 21479234; PMCID: PMC3066220.
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  86. Milbury CA, Chen CC, Mamon H, Liu P, Santagata S, Makrigiorgos GM. Multiplex amplification coupled with COLD-PCR and high resolution melting enables identification of low-abundance mutations in cancer samples with low DNA content. J Mol Diagn. 2011 Mar; 13(2):220-32. PMID: 21354058; PMCID: PMC3128575.
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  87. Cho YJ, Tsherniak A, Tamayo P, Santagata S, Ligon A, Greulich H, Berhoukim R, Amani V, Goumnerova L, Eberhart CG, Lau CC, Olson JM, Gilbertson RJ, Gajjar A, Delattre O, Kool M, Ligon K, Meyerson M, Mesirov JP, Pomeroy SL. Integrative genomic analysis of medulloblastoma identifies a molecular subgroup that drives poor clinical outcome. J Clin Oncol. 2011 Apr 10; 29(11):1424-30. PMID: 21098324; PMCID: PMC3082983.
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  88. McMillan HJ, Santagata S, Shapiro F, Batish SD, Couchon L, Donnelly S, Kang PB. Novel MPZ mutations and congenital hypomyelinating neuropathy. Neuromuscul Disord. 2010 Nov; 20(11):725-9. PMID: 20621479; PMCID: PMC2952650.
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  89. Haskew-Layton RE, Payappilly JB, Smirnova NA, Ma TC, Chan KK, Murphy TH, Guo H, Langley B, Sultana R, Butterfield DA, Santagata S, Alldred MJ, Gazaryan IG, Bell GW, Ginsberg SD, Ratan RR. Controlled enzymatic production of astrocytic hydrogen peroxide protects neurons from oxidative stress via an Nrf2-independent pathway. Proc Natl Acad Sci U S A. 2010 Oct 05; 107(40):17385-90. PMID: 20855618; PMCID: PMC2951414.
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  90. McIntire MG, Santagata S, Ligon K, Chirieac LR. Epidermal growth factor receptor gene amplification in atypical adenomatous hyperplasia of the lung. Am J Transl Res. 2010 May 16; 2(3):309-15. PMID: 20589169; PMCID: PMC2892406.
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  91. Lengner CJ, Gimelbrant AA, Erwin JA, Cheng AW, Guenther MG, Welstead GG, Alagappan R, Frampton GM, Xu P, Muffat J, Santagata S, Powers D, Barrett CB, Young RA, Lee JT, Jaenisch R, Mitalipova M. Derivation of pre-X inactivation human embryonic stem cells under physiological oxygen concentrations. Cell. 2010 May 28; 141(5):872-83. PMID: 20471072.
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  92. Santagata S, Maire CL, Idbaih A, Geffers L, Correll M, Holton K, Quackenbush J, Ligon KL. CRX is a diagnostic marker of retinal and pineal lineage tumors. PLoS One. 2009 Nov 20; 4(11):e7932. PMID: 19936203; PMCID: PMC2775954.
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  93. MacConaill LE, Campbell CD, Kehoe SM, Bass AJ, Hatton C, Niu L, Davis M, Yao K, Hanna M, Mondal C, Luongo L, Emery CM, Baker AC, Philips J, Goff DJ, Fiorentino M, Rubin MA, Polyak K, Chan J, Wang Y, Fletcher JA, Santagata S, Corso G, Roviello F, Shivdasani R, Kieran MW, Ligon KL, Stiles CD, Hahn WC, Meyerson ML, Garraway LA. Profiling critical cancer gene mutations in clinical tumor samples. PLoS One. 2009 Nov 18; 4(11):e7887. PMID: 19924296; PMCID: PMC2774511.
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  94. Kritzer JA, Hamamichi S, McCaffery JM, Santagata S, Naumann TA, Caldwell KA, Caldwell GA, Lindquist S. Rapid selection of cyclic peptides that reduce alpha-synuclein toxicity in yeast and animal models. Nat Chem Biol. 2009 Sep; 5(9):655-63. PMID: 19597508; PMCID: PMC2729362.
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  95. Kesari S, Schiff D, Drappatz J, LaFrankie D, Doherty L, Macklin EA, Muzikansky A, Santagata S, Ligon KL, Norden AD, Ciampa A, Bradshaw J, Levy B, Radakovic G, Ramakrishna N, Black PM, Wen PY. Phase II study of protracted daily temozolomide for low-grade gliomas in adults. Clin Cancer Res. 2009 Jan 01; 15(1):330-7. PMID: 19118062.
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  96. Wabulya A, Imitola J, Santagata S, Kesari S. Mycosis fungoides with leptomeningeal involvement. J Clin Oncol. 2007 Dec 10; 25(35):5658-61. PMID: 18065739.
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  97. Santagata S, Ligon KL, Hornick JL. Embryonic stem cell transcription factor signatures in the diagnosis of primary and metastatic germ cell tumors. Am J Surg Pathol. 2007 Jun; 31(6):836-45. PMID: 17527070.
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  98. Santagata S, van Horne C, Sallan SE, McLaughlin ME, Ramakrishna NR. Post-irradiation meningioma with sarcoidosis. J Neurooncol. 2007 May; 82(3):271-2. PMID: 17361337.
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  99. Santagata S, Kesari S, Black PM, Chan JA. Anaplastic variant of medulloblastoma mimicking a vestibular schwannoma. J Neurooncol. 2007 Jan; 81(1):49-51. PMID: 17146596.
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  100. Santagata S, Hornick JL, Ligon KL. Comparative analysis of germ cell transcription factors in CNS germinoma reveals diagnostic utility of NANOG. Am J Surg Pathol. 2006 Dec; 30(12):1613-8. PMID: 17122519.
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  101. Santagata S, Tuli S, Wiese DE, Day A, De Girolami U. Intramedullary neuroma of the cervicomedullary junction. Case report. J Neurosurg Spine. 2006 Oct; 5(4):362-6. PMID: 17048775.
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  102. Dahia PL, Ross KN, Wright ME, Hayashida CY, Santagata S, Barontini M, Kung AL, Sanso G, Powers JF, Tischler AS, Hodin R, Heitritter S, Moore F, Dluhy R, Sosa JA, Ocal IT, Benn DE, Marsh DJ, Robinson BG, Schneider K, Garber J, Arum SM, Korbonits M, Grossman A, Pigny P, Toledo SP, Nosé V, Li C, Stiles CD. A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet. 2005 Jul; 1(1):72-80. PMID: 16103922; PMCID: PMC1183527.
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  103. Santagata S, Demichelis F, Riva A, Varambally S, Hofer MD, Kutok JL, Kim R, Tang J, Montie JE, Chinnaiyan AM, Rubin MA, Aster JC. JAGGED1 expression is associated with prostate cancer metastasis and recurrence. Cancer Res. 2004 Oct 01; 64(19):6854-7. PMID: 15466172.
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  104. Vanamee ES, Santagata S, Aggarwal AK. FokI requires two specific DNA sites for cleavage. J Mol Biol. 2001 May 25; 309(1):69-78. PMID: 11491302.
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  105. Santagata S, Boggon TJ, Baird CL, Gomez CA, Zhao J, Shan WS, Myszka DG, Shapiro L. G-protein signaling through tubby proteins. Science. 2001 Jun 15; 292(5524):2041-50. PMID: 11375483.
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  106. Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Väliaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, Friedrich W, Schwarz K. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood. 2001 Jan 01; 97(1):81-8. PMID: 11133745.
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  107. Notarangelo LD, Santagata S, Villa A. Recombinase activating gene enzymes of lymphocytes. Curr Opin Hematol. 2001 Jan; 8(1):41-6. PMID: 11138625.
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  108. Santagata S, Gomez CA, Sobacchi C, Bozzi F, Abinun M, Pasic S, Cortes P, Vezzoni P, Villa A. N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains. Proc Natl Acad Sci U S A. 2000 Dec 19; 97(26):14572-7. PMID: 11121059; PMCID: PMC18960.
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  109. Santagata S, Villa A, Sobacchi C, Cortes P, Vezzoni P. The genetic and biochemical basis of Omenn syndrome. Immunol Rev. 2000 Dec; 178:64-74. PMID: 11213808.
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  110. Gomez CA, Ptaszek LM, Villa A, Bozzi F, Sobacchi C, Brooks EG, Notarangelo LD, Spanopoulou E, Pan ZQ, Vezzoni P, Cortes P, Santagata S. Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies. Mol Cell Biol. 2000 Aug; 20(15):5653-64. PMID: 10891502; PMCID: PMC86034.
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  111. Aidinis V, Dias DC, Gomez CA, Bhattacharyya D, Spanopoulou E, Santagata S. Definition of minimal domains of interaction within the recombination-activating genes 1 and 2 recombinase complex. J Immunol. 2000 Jun 01; 164(11):5826-32. PMID: 10820261.
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  112. Boggon TJ, Shan WS, Santagata S, Myers SC, Shapiro L. Implication of tubby proteins as transcription factors by structure-based functional analysis. Science. 1999 Dec 10; 286(5447):2119-25. PMID: 10591637.
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  113. Santagata S, Besmer E, Villa A, Bozzi F, Allingham JS, Sobacchi C, Haniford DB, Vezzoni P, Nussenzweig MC, Pan ZQ, Cortes P. The RAG1/RAG2 complex constitutes a 3' flap endonuclease: implications for junctional diversity in V(D)J and transpositional recombination. Mol Cell. 1999 Dec; 4(6):935-47. PMID: 10635319.
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  114. Aidinis V, Bonaldi T, Beltrame M, Santagata S, Bianchi ME, Spanopoulou E. The RAG1 homeodomain recruits HMG1 and HMG2 to facilitate recombination signal sequence binding and to enhance the intrinsic DNA-bending activity of RAG1-RAG2. Mol Cell Biol. 1999 Oct; 19(10):6532-42. PMID: 10490593; PMCID: PMC84623.
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  115. Santagata S, Bhattacharyya D, Wang FH, Singha N, Hodtsev A, Spanopoulou E. Molecular cloning and characterization of a mouse homolog of bacterial ClpX, a novel mammalian class II member of the Hsp100/Clp chaperone family. J Biol Chem. 1999 Jun 04; 274(23):16311-9. PMID: 10347188.
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  116. Villa A, Santagata S, Bozzi F, Imberti L, Notarangelo LD. Omenn syndrome: a disorder of Rag1 and Rag2 genes. J Clin Immunol. 1999 Mar; 19(2):87-97. PMID: 10226883.
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  117. Santagata S, Aidinis V, Spanopoulou E. The effect of Me2+ cofactors at the initial stages of V(D)J recombination. J Biol Chem. 1998 Jun 26; 273(26):16325-31. PMID: 9632694.
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  118. Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E. Partial V(D)J recombination activity leads to Omenn syndrome. Cell. 1998 May 29; 93(5):885-96. PMID: 9630231.
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  119. Spanopoulou E, Zaitseva F, Wang FH, Santagata S, Baltimore D, Panayotou G. The homeodomain region of Rag-1 reveals the parallel mechanisms of bacterial and V(D)J recombination. Cell . 1996; 87(2):263-276.
  120. Sandro Santagata. Studies on the Physiology and Plasticity of the Binocular Visual Pathway in the Frog, Rana pipiens. 1993.
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