Brendan Lee Lab



Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med. 2006 Dec 28;355(26):2757-64. PubMed PMID: 17192541.

Zhou G, Zheng Q, Engin F, Munivez E, Chen Y, Sebald E, Krakow D, Lee B. Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A. 2006 Dec 12;103(50):19004-9. Epub 2006 Dec 1. PubMed PMID: 17142326; PubMed Central PMCID: PMC1748167.

Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006 Oct 20;127(2):291-304. PubMed PMID: 17055431.

McBride KL, Belmont JW, O'Brien WE, Amin TJ, Carter S, Lee BH. Heritability of plasma amino acid levels in different nutritional states. Mol Genet Metab. 2007 Feb;90(2):217-20. Epub 2006 Sep 26. PubMed PMID: 17005426.

Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG. RMRP mutations in cartilage-hair hypoplasia. Am J Med Genet A. 2006 Oct 1;140(19):2121-30. PubMed PMID: 16838329.

Marini JC, Lee B, Garlick PJ. Ornithine restores ureagenesis capacity and mitigates hyperammonemia in Otc(spf-ash) mice. J Nutr. 2006 Jul;136(7):1834-8. PubMed PMID: 16772445.

Lanpher B, Brunetti-Pierri N, Lee B. Inborn errors of metabolism: the flux from Mendelian to complex diseases. Nat Rev Genet. 2006 Jun;7(6):449-60. Review. PubMed PMID: 16708072.

Scaglia F, Lee B. Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):113-20. Review. PubMed PMID: 16602094.

Marini JC, Lee B, Garlick PJ. Reduced ornithine transcarbamylase activity does not impair ureagenesis in Otc(spf-ash) mice. J Nutr. 2006 Apr;136(4):1017-20. PubMed PMID: 16549467.

Marini JC, Lee B, Garlick PJ. In vivo urea kinetic studies in conscious mice. J Nutr. 2006 Jan;136(1):202-6. PubMed PMID: 16365083.

Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet. 2005 Dec 1;14(23):3723-40. Epub 2005 Oct 27. PubMed PMID: 16254002.

Smith W, Kishnani PS, Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith M, Summar M. Urea cycle disorders: clinical presentation outside the newborn period. Crit Care Clin. 2005 Oct;21(4 Suppl):S9-17. Review. PubMed PMID: 16227115.

Sniderman King L, Singh RH, Rhead WJ, Smith W, Lee B, Summar ML. Genetic counseling issues in urea cycle disorders. Crit Care Clin. 2005 Oct;21(4 Suppl):S37-44. Review. PubMed PMID: 16227114.

Singh RH, Rhead WJ, Smith W, Lee B, Sniderman King L, Summar M. Nutritional management of urea cycle disorders. Crit Care Clin. 2005 Oct;21(4 Suppl):S27-35. Review. PubMed PMID: 16227113.

Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith W, Summar ML. Considerations in the difficult-to-manage urea cycle disorder patient. Crit Care Clin. 2005 Oct;21(4 Suppl):S19-25. Review. PubMed PMID: 16227112.

Summar ML, Barr F, Dawling S, Smith W, Lee B, Singh RH, Rhead WJ, Sniderman King L, Christman BW. Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin. 2005 Oct;21(4 Suppl):S1-8. Review. PubMed PMID: 16227111.

Tagariello A, Schlaubitz S, Hankeln T, Mohrmann G, Stelzer C, Schweizer A, Hermanns P, Lee B, Schmidt ER, Winterpacht A, Zabel B. Expression profiling of human fetal growth plate cartilage by EST sequencing. Matrix Biol. 2005 Dec;24(8):530-8. Epub 2005 Sep 19. PubMed PMID: 16176871.

Brunetti-Pierri N, Lee B. Gene therapy for inborn errors of liver metabolism. Mol Genet Metab. 2005 Sep-Oct;86(1-2):13-24. Review. PubMed PMID: 16154372.

Napierala D, Garcia-Rojas X, Sam K, Wakui K, Chen C, Mendoza-Londono R, Zhou G, Zheng Q, Lee B. Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation. Mol Genet Metab. 2005 Sep-Oct;86(1-2):257-68. PubMed PMID: 16140555.

Williams MS, Ettinger RS, Hermanns P, Lee B, Carlsson G, Taskinen M, Mäkitie O. The natural history of severe anemia in cartilage-hair hypoplasia. Am J Med Genet A. 2005 Sep 15;138(1):35-40. PubMed PMID: 16097009.

Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D. Dysregulation of chondrogenesis in human cleidocranial dysplasia. Am J Hum Genet. 2005 Aug;77(2):305-12. Epub 2005 Jun 10. PubMed PMID: 15952089; PubMed Central PMCID: PMC1224532.

Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B. Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS. Am J Hum Genet. 2005 Jul;77(1):161-8. Epub 2005 May 27. PubMed PMID: 15924278; PubMed Central PMCID: PMC1226190.

Mohrmann G, Hengstler JG, Hofmann TG, Endele SU, Lee B, Stelzer C, Zabel B, Brieger J, Hasenclever D, Tanner B, Sagemueller J, Sehouli J, Will H, Winterpacht. SPOC1, a novel PHD-finger protein: association with residual disease and survival in ovarian cancer. Int J Cancer. 2005 Sep 10;116(4):547-54. PubMed PMID: 15825179.

Toietta G, Mane VP, Norona WS, Finegold MJ, Ng P, McDonagh AF, Beaudet AL, Lee B. Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector. Proc Natl Acad Sci U S A. 2005 Mar 15;102(11):3930-5. Epub 2005 Mar 7. PubMed PMID: 15753292; PubMed Central PMCID: PMC554836.

Mian A, Guenther M, Finegold M, Ng P, Rodgers J, Lee B. Toxicity and adaptive immune response to intracellular transgenes delivered by helper-dependent vs. first generation adenoviral vectors. Mol Genet Metab. 2005 Mar;84(3):278-88. Epub 2004 Dec 29. PubMed PMID: 15694178.

McBride KL, Miller G, Carter S, Karpen S, Goss J, Lee B. Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency. Pediatrics. 2004 Oct;114(4):e523-6. PubMed PMID: 15466081.

Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B. Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. J Nutr. 2004 Oct;134(10 Suppl):2775S-2782S; discussion 2796S-2797S. Review. PubMed PMID: 15465784.

Mian A, McCormack WM Jr, Mane V, Kleppe S, Ng P, Finegold M, O'Brien WE, Rodgers JR, Beaudet AL, Lee B. Long-term correction of ornithine transcarbamylase deficiency by WPRE-mediated overexpression using a helper-dependent adenovirus. Mol Ther. 2004 Sep;10(3):492-9. PubMed PMID: 15336649.

Dreyer SD, Naruse T, Morello R, Zabel B, Winterpacht A, Johnson RL, Lee B, Oberg KC. Lmx1b expression during joint and tendon formation: localization and evaluation of potential downstream targets. Gene Expr Patterns. 2004 Jul;4(4):397-405. PubMed PMID: 15183306.

Brunetti-Pierri N, Mendoza-Londono R, Shah MR, Karaviti L, Lee B. von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development. Am J Med Genet A. 2004 Apr 30;126A(3):299-302. Review. PubMed PMID: 15054846.

Scaglia F, Carter S, O'Brien WE, Lee B. Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. Mol Genet Metab. 2004 Apr;81 Suppl 1:S79-85. PubMed PMID: 15050979.

Pastore L, Belalcazar LM, Oka K, Cela R, Lee B, Chan L, Beaudet AL. Helper-dependent adenoviral vector-mediated long-term expression of human apolipoprotein A-I reduces atherosclerosis in apo E-deficient mice. Gene. 2004 Mar 3;327(2):153-60. PubMed PMID: 14980712.