Recent Publications From CNfAD Investigators
2010 2009 2008
2010
Ullrich NJ, Zimmerman M, Smith E, Irons M, Marcus K, Kieran MW. Association of Rapidly Progressive Moyamoya Syndrome With Bevacizumab Treatment for Glioblastoma in a Child With Neurofibromatosis Type 1. J Child Neurol. 2010 Sep 7. [Epub ahead of print] PubMed PMID: 20823033.
Plotkin SR, Halpin C, McKenna MJ, Loeffler JS, Batchelor TT, Barker FG 2nd. Erlotinib for progressive vestibular schwannoma in neurofibromatosis 2 patients. Otol Neurotol. 2010 ;31:1135-43. PubMed PMID: 20736812.
Benhamouche S, Curto M, Saotome I, Gladden AB, Liu CH, Giovannini M, McClatchey AI. Nf2/Merlin controls progenitor homeostasis and tumorigenesis in the liver. Genes Dev. 2010; 24: 1718-30. PubMed PMID: 20675406.
Wong HK, Lahdenranta J, Kamoun WS, Chan AW, McClatchey AI, Plotkin SR, Jain RK, di Tomaso E. Anti-vascular endothelial growth factor therapies as a novel therapeutic approach to treating neurofibromatosis-related tumors. Cancer Res. 2010; 70:3483-93. PubMed PMID: 20406973.
Huttner AJ, Kieran MW, Yao X, Cruz L, Ladner J, Quayle K, Goumnerova LC, Irons MB, Ullrich NJ. Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1. Pediatr Blood Cancer. 2010; 54:890-6. PubMed PMID: 20310005.
Kaplan L, Foster R, Shen Y, Parry DM, McMaster ML, O'Leary MC, Gusella JF. Monozygotic twins discordant for neurofibromatosis 1. Am J Med Genet A. 2010;152A:601-6. PubMed PMID: 20186797; PubMed Central PMCID: PMC2830382.
Ullrich NJ, Ayr L, Leaffer E, Irons MB, Rey-Casserly C. Pilot Study of a Novel Computerized Task to Assess Spatial Learning in Children and Adolescents With Neurofibromatosis Type 1. J Child Neurol. 2010 Feb 5. [Epub ahead of print] PubMed PMID: 20139412.
Prabhakar S, Brenner GJ, Sung B, Messerli SM, Mao J, Sena-Esteves M, Stemmer-Rachamimov A, Tannous B, Breakefield XO. Imaging and therapy of experimental schwannomas using HSV amplicon vector-encoding apoptotic protein under Schwann cell promoter. Cancer Gene Ther. 2010; 17:266-74. PubMed PMID: 19834516.
Saydam O, Senol O, Schaaij-Visser TB, Pham TV, Piersma SR, Stemmer-Rachamimov AO, Wurdinger T, Peerdeman SM, Jimenez CR. Comparative protein profiling reveals minichromosome maintenance (MCM) proteins as novel potential tumor markers for meningiomas. J Proteome Res. 2010; 9:485-94. PubMed PMID: 19877719; PubMed Central PMCID: PMC2810358.
Kissil JL, Blakeley JO, Ferner RE, Huson SM, Kalamarides M, Mautner VF, McCormick F, Morrison H, Packer R, Ramesh V, Ratner N, Rauen KA, Stevenson DA, Hunter-Schaedle K, North K. What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers. Am J Med Genet A. 2010;152A:269-83. PubMed PMID: 20082461; PubMed Central PMCID: PMC2818482.
Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T. Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A. 2010; 152A:4-24. PubMed PMID: 20014119.
2009
Cai W, Kassarjian A, Bredella MA, Harris GJ, Yoshida H, Mautner VF, Wenzel R, Plotkin SR. Tumor burden in patients with neurofibromatosis types 1 and 2 and schwannomatosis: determination on whole-body MR images. Radiology. 2009; 250:665-73. PubMed PMID: 19244040.
Chang Z, Guo CL, Ahronowitz I, Stemmer-Rachamimov AO, MacCollin M, Nunes FP. A role for the p53 pathway in the pathology of meningiomas with NF2 loss. J Neurooncol. 2009; 91:265-70. PubMed PMID: 18974932; PubMed Central PMCID: PMC2692701.
Evans DG, Kalamarides M, Hunter-Schaedle K, Blakeley J, Allen J, Babovic-Vuskanovic D, Belzberg A, Bollag G, Chen R, DiTomaso E, Golfinos J, Harris G, Jacob A, Kalpana G, Karajannis M, Korf B, Kurzrock R, Law M, McClatchey A, Packer R, Roehm P, Rubenstein A, Slattery W 3rd, Tonsgard JH, Welling DB, Widemann B, Yohay K, Giovannini M. Consensus recommendations to accelerate clinical trials for neurofibromatosis type 2. Clin Cancer Res. 2009; 15:5032-9. PubMed PMID: 19671848.
James MF, Han S, Polizzano C, Plotkin SR, Manning BD, Stemmer-Rachamimov AO, Gusella JF, Ramesh V. NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth. Mol Cell Biol. 2009; 29:4250-61. PubMed PMID: 19451225; PubMed Central PMCID: PMC2715803.
Lu-Emerson C, Plotkin SR. The Neurofibromatoses. Part 1: NF1. Rev Neurol Dis. 2009; 6:E47-53. Review. PubMed PMID: 19587630.
Lu-Emerson C, Plotkin SR. The Neurofibromatoses. Part 2: NF2 and schwannomatosis. Rev Neurol Dis. 2009; 6:E81-6. Review. PubMed PMID: 19898272.
Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA. 2009; 302:2111-8. PubMed PMID: 19920235.
McGillicuddy LT, Fromm JA, Hollstein PE, Kubek S, Beroukhim R, De Raedt T, Johnson BW, Williams SM, Nghiemphu P, Liau LM, Cloughesy TF, Mischel PS, Parret A, Seiler J, Moldenhauer G, Scheffzek K, Stemmer-Rachamimov AO, Sawyers CL, Brennan C, Messiaen L, Mellinghoff IK, Cichowski K. Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis. Cancer Cell. 2009; 16:44-54. PubMed PMID: 19573811.
Miller SJ, Jessen WJ, Mehta T, Hardiman A, Sites E, Kaiser S, Jegga AG, Li H, Upadhyaya M, Giovannini M, Muir D, Wallace MR, Lopez E, Serra E, Nielsen GP, Lazaro C, Stemmer-Rachamimov A, Page G, Aronow BJ, Ratner N. Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene. EMBO Mol Med. 2009; 1:236-48. PubMed PMID: 20049725.
Plotkin SR, Halpin C, Blakeley JO, Slattery WH 3rd, Welling DB, Chang SM, Loeffler JS, Harris GJ, Sorensen AG, McKenna MJ, Barker FG 2nd. Suggested response criteria for phase II antitumor drug studies for neurofibromatosis type 2 related vestibular schwannoma. J Neurooncol. 2009; 93:61-77. Review. PubMed PMID: 19430883.
Plotkin SR, Stemmer-Rachamimov AO, Barker FG 2nd, Halpin C, Padera TP, Tyrrell A, Sorensen AG, Jain RK, di Tomaso E. Hearing improvement after bevacizumab in patients with neurofibromatosis type 2. N Engl J Med. 2009; 361:358-67. PubMed PMID: 19587327.
Saydam O, Shen Y, Würdinger T, Senol O, Boke E, James MF, Tannous BA, Stemmer-Rachamimov AO, Yi M, Stephens RM, Fraefel C, Gusella JF, Krichevsky AM, Breakefield XO. Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway. Mol Cell Biol. 2009; 29:5923-40. PubMed PMID: 19703993; PubMed Central PMCID: PMC2772747.
Shen Y, Nunes F, Stemmer-Rachamimov A, James M, Mohapatra G, Plotkin S, Betensky RA, Engler DA, Roy J, Ramesh V, Gusella JF. Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas. BMC Med Genomics. 2009; 2:42. PubMed PMID: 19589153; PubMed Central PMCID: PMC2716362.
Smith MJ, Boyd CD, MacCollin MM, Plotkin SR. Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations. Clin Genet. 2009; 75:501-2. PubMed PMID: 19320657.
Stankovic KM, Mrugala MM, Martuza RL, Silver M, Betensky RA, Nadol JB Jr, Stemmer-Rachamimov AO. Genetic determinants of hearing loss associated with vestibular schwannomas. Otol Neurotol. 2009; 30:661-7. PubMed PMID: 19546833.
2008
Boyd C, Smith MJ, Kluwe L, Balogh A, Maccollin M, Plotkin SR. Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. Clin Genet. 2008; 74:358-66. PubMed PMID: 18647326.
Farassati F, Pan W, Yamoutpour F, Henke S, Piedra M, Frahm S, Al-Tawil S, Mangrum WI, Parada LF, Rabkin SD, Martuza RL, Kurtz A. Ras signaling influences permissiveness of malignant peripheral nerve sheath tumor cells to oncolytic herpes. Am J Pathol. 2008; 173:1861-72. PubMed PMID: 18988803; PubMed Central PMCID: PMC2626396.
Harris GJ, Plotkin SR, Maccollin M, Bhat S, Urban T, Lev MH, Slattery WH. Three-dimensional volumetrics for tracking vestibular schwannoma growth in neurofibromatosis type II. Neurosurgery. 2008; 62:1314-9; discussion 1319-20. PubMed PMID: 18824998.
James MF, Lelke JM, Maccollin M, Plotkin SR, Stemmer-Rachamimov AO, Ramesh V, Gusella JF. Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth. Neurobiol Dis. 2008; 29:278-92. PubMed PMID: 17962031; PubMed Central PMCID: PMC2266821.
Johannessen CM, Johnson BW, Williams SM, Chan AW, Reczek EE, Lynch RC, Rioth MJ, McClatchey A, Ryeom S, Cichowski K. TORC1 is essential for NF1-associated malignancies. Curr Biol. 2008; 18:56-62. PubMed PMID: 18164202.
Jones GN, Tep C, Towns WH 2nd, Mihai G, Tonks ID, Kay GF, Schmalbrock PM, Stemmer-Rachamimov AO, Yoon SO, Kirschner LS. Tissue-specific ablation of Prkar1a causes schwannomas by suppressing neurofibromatosis protein production. Neoplasia. 2008; 10:1213-21. PubMed PMID: 18953430; PubMed Central PMCID: PMC2570597.
Kalamarides M, Stemmer-Rachamimov AO, Takahashi M, Han ZY, Chareyre F, Niwa-Kawakita M, Black PM, Carroll RS, Giovannini M. Natural history of meningioma development in mice reveals: a synergy of Nf2 and p16(Ink4a) mutations. Brain Pathol. 2008; 18:62-70. PubMed PMID: 17924978; PubMed Central PMCID: PMC2253711.
Maguire CA, Meijer DH, LeRoy SG, Tierney LA, Broekman ML, Costa FF, Breakefield XO, Stemmer-Rachamimov A, Sena-Esteves M. Preventing growth of brain tumors by creating a zone of resistance. Mol Ther. 2008; 16:1695-702. PubMed PMID: 18714312.
McQueen M, MacCollin M, Gusella J, Plotkin SR. Patient and physician attitudes regarding clinical trials in neurofibromatosis 1. J Neurosci Nurs. 2008; 40:341-5. PubMed PMID: 19170300.
Patil S, Perry A, Maccollin M, Dong S, Betensky RA, Yeh TH, Gutmann DH, Stemmer-Rachamimov AO. Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas. Brain Pathol. 2008; 18:517-9. PubMed PMID: 18422762; PubMed Central PMCID: PMC2743242.
Plotkin SR, Singh MA, O'Donnell CC, Harris GJ, McClatchey AI, Halpin C. Audiologic and radiographic response of NF2-related vestibular schwannoma to erlotinib therapy. Nat Clin Pract Oncol. 2008; 5:487-91. PubMed PMID: 18560388.
Snuderl M, Chi SN, De Santis SM, Stemmer-Rachamimov AO, Betensky RA, De Girolami U, Kieran MW. Prognostic value of tumor microinvasion and metalloproteinases expression in intracranial pediatric ependymomas. J Neuropathol Exp Neurol. 2008; 67:911-20. PubMed PMID: 18716553; PubMed Central PMCID: PMC2686114.
Wu J, Williams JP, Rizvi TA, Kordich JJ, Witte D, Meijer D, Stemmer-Rachamimov AO, Cancelas JA, Ratner N. Plexiform and dermal neurofibromas and pigmentation are caused by Nf1 loss in desert hedgehog-expressing cells. Cancer Cell. 2008; 13:105-16. PubMed PMID: 18242511.
Yi C, Wilker EW, Yaffe MB, Stemmer-Rachamimov A, Kissil JL. Validation of the p21-activated kinases as targets for inhibition in neurofibromatosis type 2. Cancer Res. 2008; 68:7932-7. PubMed PMID: 18829550; PubMed Central PMCID: PMC2707059.