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Brendan Lee Lab

2010-2012

Master
Content

Guse K, Suzuki M, Sule G, Bertin TK, Tyynismaa H, Ahola-Erkkilä S, Palmer D, Suomalainen A, Ng P, Cerullo V, Hemminki A, Lee B. Capsid-modified adenoviral vectors for improved muscle-directed gene therapy. Hum Gene Ther. 2012 Oct;23(10):1065-70. doi: 10.1089/hum.2012.003. Epub 2012 Aug 13. PubMed PMID: 22888960; PubMed Central PMCID: PMC3472516.

Grover M, Brunetti-Pierri N, Belmont J, Phan K, Tran A, Shypailo RJ, Ellis KJ, Lee BH. Assessment of bone mineral status in children with Marfan syndrome. Am J Med Genet A. 2012 Sep;158A(9):2221-4. doi: 10.1002/ajmg.a.35540. Epub 2012 Aug 7. PubMed PMID: 22887731; PubMed Central PMCID: PMC3429634.

Campeau PM, Lu JT, Sule G, Jiang MM, Bae Y, Madan S, Högler W, Shaw NJ, Mumm S, Gibbs RA, Whyte MP, Lee BH. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet. 2012 Nov 15;21(22):4904-9. doi: 10.1093/hmg/dds326. Epub 2012 Aug 8. PubMed PMID: 22875837; PubMed Central PMCID: PMC3607481.

Nagamani SC, Lee B, Erez A. Optimizing therapy for argininosuccinic aciduria. Mol Genet Metab. 2012 Sep;107(1-2):10-4. doi: 10.1016/j.ymgme.2012.07.009. Epub 2012 Jul 20. Review. PubMed PMID: 22841516; PubMed Central PMCID: PMC3444682.

Wat MJ, Beck TF, Hernández-García A, Yu Z, Veenma D, Garcia M, Holder AM, Wat JJ, Chen Y, Mohila CA, Lally KP, Dickinson M, Tibboel D, de Klein A, Lee B, Scott DA. Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. Hum Mol Genet. 2012 Sep 15;21(18):4115-25. doi: 10.1093/hmg/dds241. Epub 2012 Jun 20. PubMed PMID: 22723016; PubMed Central PMCID: PMC3428158..

Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. Epub 2012 Jul 12. Review. PubMed PMID: 22715153; PubMed Central PMCID: PMC3696352.

Hernández-García A, Brosens E, Zaveri HP, de Jong EM, Yu Z, Namwanje M, Mayle A, Fernandes CJ, Lee B, Blazo M, Lalani SR, Tibboel D, de Klein A, Scott DA. Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. Am J Med Genet A. 2012 Jul;158A(7):1785-7. doi: 10.1002/ajmg.a.35391. Epub 2012 May 25. PubMed PMID: 22639458.

Gurha P, Abreu-Goodger C, Wang T, Ramirez MO, Drumond AL, van Dongen S, Chen Y, Bartonicek N, Enright AJ, Lee B, Kelm RJ Jr, Reddy AK, Taffet GE, Bradley A, Wehrens XH, Entman ML, Rodriguez A. Targeted deletion of microRNA-22 promotes stress-induced cardiac dilation and contractile dysfunction. Circulation. 2012 Jun 5;125(22):2751-61. doi: 10.1161/CIRCULATIONAHA.111.044354. Epub 2012 May 8. PubMed PMID: 22570371; PubMed Central PMCID: PMC3503489.

Choudhry KS, Grover M, Tran AA, O'Brian Smith E, Ellis KJ, Lee BH. Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAP Kinase pathway? Mol Genet Metab. 2012 Jun;106(2):237-40. doi: 10.1016/j.ymgme.2012.04.003. Epub 2012 Apr 11. PubMed PMID: 22551697; PubMed Central PMCID: PMC3356458.

Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B. Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. Am J Hum Genet. 2012 May 4;90(5):836-46. doi: 10.1016/j.ajhg.2012.03.018. Epub 2012 Apr 26. PubMed PMID: 22541557; PubMed Central PMCID: PMC3376491.

Napierala D, Sun Y, Maciejewska I, Bertin TK, Dawson B, D'Souza R, Qin C, Lee B. Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice. J Bone Miner Res. 2012 Aug;27(8):1735-45. doi: 10.1002/jbmr.1636. PubMed PMID: 22508542; PubMed Central PMCID: PMC3399940.

Bae Y, Yang T, Zeng HC, Campeau PM, Chen Y, Bertin T, Dawson BC, Munivez E, Tao J, Lee BH. miRNA-34c regulates Notch signaling during bone development. Hum Mol Genet. 2012 Jul 1;21(13):2991-3000. doi: 10.1093/hmg/dds129. Epub 2012 Apr 12. PubMed PMID: 22498974; PubMed Central PMCID: PMC3373245.

Sule G, Suzuki M, Guse K, Cela R, Rodgers JR, Lee B. Cytokine-conditioned dendritic cells induce humoral tolerance to protein therapy in mice. Hum Gene Ther. 2012 Jul;23(7):769-80. doi: 10.1089/hum.2011.225. Epub 2012 May 11. PubMed PMID: 22468961; PubMed Central PMCID: PMC3404424.

Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet. 2012 Feb 10;90(2):282-9. doi: 10.1016/j.ajhg.2011.11.023. Epub 2012 Jan 19. PubMed PMID: 22265014; PubMed Central PMCID: PMC3276659.

Nagamani SC, Erez A, Lee B. Argininosuccinate lyase deficiency. Genet Med. 2012 May;14(5):501-7. doi: 10.1038/gim.2011.1. Epub 2012 Jan 5. Review. PubMed PMID: 22241104; PubMed Central PMCID: PMC3709024.

Erez A, Nagamani SC, Shchelochkov OA, Premkumar MH, Campeau PM, Chen Y, Garg HK, Li L, Mian A, Bertin TK, Black JO, Zeng H, Tang Y, Reddy AK, Summar M, O'Brien WE, Harrison DG, Mitch WE, Marini JC, Aschner JL, Bryan NS, Lee B. Requirement of argininosuccinate lyase for systemic nitric oxide production. Nat Med. 2011 Nov 13;17(12):1619-26. doi: 10.1038/nm.2544. PubMed PMID: 22081021; PubMed Central PMCID: PMC3348956..

Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2. PubMed PMID: 21948486; PubMed Central PMCID: PMC3655525.

Li F, Lu Y, Ding M, Napierala D, Abbassi S, Chen Y, Duan X, Wang S, Lee B, Zheng Q. Runx2 contributes to murine Col10a1 gene regulation through direct interaction with its cis-enhancer. J Bone Miner Res. 2011 Dec;26(12):2899-910. doi: 10.1002/jbmr.504. PubMed PMID: 21887706; PubMed Central PMCID: PMC3222790.

Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, White L, Miki R, Cohn DH, Crawford S, Travers R, Glorieux FH, Lee B. Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res. 2011 Dec;26(12):2798-803. doi: 10.1002/jbmr.487. PubMed PMID: 21826736; PubMed Central PMCID: PMC3214246.

Lee B, Davidson BL. Gene therapy grows into young adulthood: special review issue. Hum Mol Genet. 2011 Apr 15;20(R1):R1. doi: 10.1093/hmg/ddr188. PubMed PMID: 21571785.

Suzuki M, Cela R, Bertin TK, Sule G, Cerullo V, Rodgers JR, Lee B. NOD2 signaling contributes to the innate immune response against helper-dependent adenovirus vectors independently of MyD88 in vivo. Hum Gene Ther. 2011 Sep;22(9):1071-82. doi: 10.1089/hum.2011.002. Epub 2011 Jul 8. PubMed PMID: 21561248; PubMed Central PMCID: PMC3177951.

Marini JC, Lanpher BC, Scaglia F, O'Brien WE, Sun Q, Garlick PJ, Jahoor F, Lee B. Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients. Am J Clin Nutr. 2011 Jun;93(6):1248-54. doi: 10.3945/ajcn.110.009043. Epub 2011 Apr 13. PubMed PMID: 21490144; PubMed Central PMCID: PMC3095500.

Martino AT, Suzuki M, Markusic DM, Zolotukhin I, Ryals RC, Moghimi B, Ertl HC, Muruve DA, Lee B, Herzog RW. The genome of self-complementary adeno-associated viral vectors increases Toll-like receptor 9-dependent innate immune responses in the liver. Blood. 2011 Jun 16;117(24):6459-68. doi: 10.1182/blood-2010-10-314518. Epub 2011 Apr 7. PubMed PMID: 21474674; PubMed Central PMCID: PMC3123017.

Erez A, Shchelochkov OA, Plon SE, Scaglia F, Lee B. Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet. 2011 Apr 8;88(4):402-21. doi: 10.1016/j.ajhg.2011.03.005. Review. PubMed PMID: 21473982; PubMed Central PMCID: PMC3071916.

Tao J, Erez A, Lee B. One NOTCH Further: Jagged 1 in Bone Metastasis. Cancer Cell. 2011 Feb 15;19(2):159-61. doi: 10.1016/j.ccr.2011.01.043. PubMed PMID: 21316596.

Erez A, Nagamani SC, Lee B. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. Am J Med Genet C Semin Med
Genet. 2011 Feb 15;157C(1):45-53. doi: 10.1002/ajmg.c.30289. Epub 2011 Feb 10. Review. PubMed PMID: 21312326; PubMed Central PMCID: PMC3073162.

Keller B, Yang T, Chen Y, Munivez E, Bertin T, Zabel B, Lee B. Interaction of TGFβ and BMP signaling pathways during chondrogenesis. PLoS One. 2011 Jan 28;6(1):e16421. doi: 10.1371/journal.pone.0016421. PubMed PMID: 21297990; PubMed Central PMCID: PMC3030581.

Nagamani SCS, Erez A, Lee B. Argininosuccinate Lyase Deficiency. 2011 Feb 03 [updated 2012 Feb 02]. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from http://www.ncbi.nlm.nih.gov/books/NBK51784/ PubMed PMID: 21290785.

van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB. The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr;19(4):400-8. doi: 10.1038/ejhg.2010.211. Epub 2011 Jan 19. PubMed PMID: 21248748; PubMed Central PMCID: PMC3060324.

Hu C, Cela RG, Suzuki M, Lee B, Lipshutz GS. Neonatal helper-dependent adenoviral vector gene therapy mediates correction of hemophilia A and tolerance to human factor VIII. Proc Natl Acad Sci U S A. 2011 Feb 1;108(5):2082-7. doi: 10.1073/pnas.1015571108. Epub 2011 Jan 18. PubMed PMID: 21245323; PubMed Central PMCID: PMC3033287.

Brunetti-Pierri N, Lanpher B, Erez A, Ananieva EA, Islam M, Marini JC, Sun Q, Yu C, Hegde M, Li J, Wynn RM, Chuang DT, Hutson S, Lee B. Phenylbutyrate therapy for maple syrup urine disease. Hum Mol Genet. 2011 Feb 15;20(4):631-40. doi: 10.1093/hmg/ddq507. Epub 2010 Nov 23. PubMed PMID: 21098507; PubMed Central PMCID: PMC3024040.

Marini JC, Keller B, Didelija IC, Castillo L, Lee B. Enteral arginase II provides ornithine for citrulline synthesis. Am J Physiol Endocrinol Metab. 2011 Jan;300(1):E188-94. doi: 10.1152/ajpendo.00413.2010. Epub 2010 Oct 26. PubMed PMID: 20978229; PubMed Central PMCID: PMC3023202.

Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, Gillerot Y, Napierala D, Krakow D, Beighton P, Superti-Furga A, De Paepe A, Lee B. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 2011 Mar;26(3):666-72. doi: 10.1002/jbmr.250. PubMed PMID: 20839288; PubMed Central PMCID: PMC3179293.

Baldridge D, Shchelochkov O, Kelley B, Lee B. Signaling pathways in human skeletal dysplasias. Annu Rev Genomics Hum Genet. 2010;11:189-217. doi: 10.1146/annurev-genom-082908-150158. Review. PubMed PMID: 20690819.

Marini JC, Didelija IC, Castillo L, Lee B. Plasma arginine and ornithine are the main citrulline precursors in mice infused with arginine-free diets. J Nutr. 2010 Aug;140(8):1432-7. doi: 10.3945/jn.110.125377. Epub 2010 Jun 23. PubMed PMID: 20573946; PubMed Central PMCID: PMC2903302.

Yang T, Mendoza-Londono R, Lu H, Tao J, Li K, Keller B, Jiang MM, Shah R, Chen Y, Bertin TK, Engin F, Dabovic B, Rifkin DB, Hicks J, Jamrich M, Beaudet AL, Lee B. E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta. J Clin Invest. 2010 Jul;120(7):2474-85. doi: 10.1172/JCI42150. Epub 2010 Jun 7. PubMed PMID: 20530870; PubMed Central PMCID: PMC2898604.

Tao J, Chen S, Yang T, Dawson B, Munivez E, Bertin T, Lee B. Osteosclerosis owing to Notch gain of function is solely Rbpj-dependent. J Bone Miner Res. A soft kinetic data structure for lesion border detection 2010 Oct;25(10):2175-83. doi: 10.1002/jbmr.115. PubMed PMID: 20499347; PubMed Central PMCID: PMC3126919.

Baldridge D, Lennington J, Weis M, Homan EP, Jiang MM, Munivez E, Keene DR, Hogue WR, Pyott S, Byers PH, Krakow D, Cohn DH, Eyre DR, Lee B, Morello R. Generalized connective tissue disease in Crtap-/- mouse. PLoS One. 2010 May 11;5(5):e10560. doi: 10.1371/journal.pone.0010560. PubMed PMID: 20485499; PubMed Central PMCID: PMC2868021.

Marini JC, Didelija IC, Castillo L, Lee B. Glutamine: precursor or nitrogen donor for citrulline synthesis? Am J Physiol Endocrinol Metab. 2010 Jul;299(1):E69-79. doi: 10.1152/ajpendo.00080.2010. Epub 2010 Apr 20. PubMed PMID: 20407005; PubMed Central PMCID: PMC2904050.

Tao J, Chen S, Lee B. Alteration of Notch signaling in skeletal development and disease. Ann N Y Acad Sci. 2010 Mar;1192:257-68. doi:
10.1111/j.1749-6632.2009.05307.x. Review. PubMed PMID: 20392245; PubMed Central PMCID: PMC2952341.

Lee B, Rhead W, Diaz GA, Scharschmidt BF, Mian A, Shchelochkov O, Marier JF, Beliveau M, Mauney J, Dickinson K, Martinez A, Gargosky S, Mokhtarani M, Berry SA. Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control. Mol Genet Metab. 2010 Jul;100(3):221-8. doi: 10.1016/j.ymgme.2010.03.014. Epub 2010 Mar 23. PubMed PMID: 20382058; PubMed Central PMCID: PMC2905228.

Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2010
Apr 9;86(4):551-9. doi: 10.1016/j.ajhg.2010.02.022. Epub 2010 Apr 1. Erratum in: Am J Hum Genet. 2010 Oct 8;87(4):572-3. PubMed PMID: 20362275; PubMed Central PMCID: PMC2850430.

Mendoza-Londono R, Lee B. Cleidocranial Dysplasia. 2006 Jan 03 [updated 2013 Aug 29]. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from http://www.ncbi.nlm.nih.gov/books/NBK1513/PubMed PMID: 20301686.

Campeau PM, Pivalizza PJ, Miller G, McBride K, Karpen S, Goss J, Lee BH. Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study. Mol Genet Metab. 2010;100 Suppl 1:S84-7. doi: 10.1016/j.ymgme.2010.02.012. Epub 2010 Feb 19. PubMed PMID: 20223690; PubMed Central PMCID: PMC2867349.

Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC, Harding CO, Kerr DS, Lanpher B, Lee B, Lichter-Konecki U, McCandless SE, Merritt JL, Oster-Granite ML, Seashore MR, Stricker T, Summar M, Waisbren S, Yudkoff M, Batshaw ML. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab. 2010;100 Suppl 1:S97-105. doi: 10.1016/j.ymgme.2010.01.014. Epub 2010 Feb 10. Review. PubMed PMID: 20188616;
PubMed Central PMCID: PMC2858794.

Fratzl-Zelman N, Morello R, Lee B, Rauch F, Glorieux FH, Misof BM, Klaushofer K, Roschger P. CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII. Bone. 2010 Mar;46(3):820-6. doi: 10.1016/j.bone.2009.10.037. Epub 2009 Nov 4. PubMed PMID: 19895918; PubMed Central PMCID: PMC2825377.

Suzuki M, Cerullo V, Bertin TK, Cela R, Clarke C, Guenther M, Brunetti-Pierri N, Lee B. MyD88-dependent silencing of transgene expression during the innate and adaptive immune response to helper-dependent adenovirus. Hum Gene Ther. 2010 Mar;21(3):325-36. doi: 10.1089/hum.2009.155. PubMed PMID: 19824822; PubMed Central PMCID: PMC2865218.

Mao J, Yang T, Gu Z, Heird WC, Finegold MJ, Lee B, Wakil SJ. aP2-Cre-mediated inactivation of acetyl-CoA carboxylase 1 causes growth retardation and reduced lipid accumulation in adipose tissues. Proc Natl Acad Sci U S A. 2009 Oct 13;106(41):17576-81. doi: 10.1073/pnas.0909055106. Epub 2009 Sep 24. PubMed PMID: 19805143; PubMed Central PMCID: PMC2762677.

Suzuki M, Cela R, Clarke C, Bertin TK, Mouriño S, Lee B. Large-scale production of high-quality helper-dependent adenoviral vectors using adherent cells in cell factories. Hum Gene Ther. 2010 Jan;21(1):120-6. doi: 10.1089/hum.2009.096. PubMed PMID: 19719388; PubMed Central PMCID: PMC2829450.