Selected Recent Publications from the Center of Excellence in Sickle Cell Disease

Adewoye A., Steinberg MH, Hemoglobinopathies in pregnancy. Cambridge University Press, Cambridge. Chapter 13, pp. 442-468, 2006.

Adewoye AH, Klings ES, Farber HW, Palaima E, McMahon L, Odhiambo A, Safaya S, Yoder M, Steinberg MH, Asea A. Sickle cell vasoocclusive crisis induces the release of circulating serum heat shock protein-70. Am J Hematol. 2005 78:240. PMID: 15726596

Adewoye A, Nolan VG, Ma Q, Baldwin C, Wyszynski DF, Farrell JJ, Farrer LA, Steinberg MH. Association of polymorphisms of IGF1R and genes in the transforming growth factor-β /bone morphogenetic protein pathway with bacteremia in sickle cell anemia. Clin Inf Dis. 43:593-598, 2006. PMID: 16886151

Adewoye AH, Nolan V, McMahon L, Ma Q, Steinberg MH. Effectiveness of a dedicated day hospital for management of acute sickle cell pain. Haematologica. 2007 92:854-5. PMID: 17550862

Adewoye AH, Ramsey J, McMahon L, Sakai O, Steinberg MH. Lacrimal gland enlargement in sickle cell disease. Am J Hematol. 2006 Nov;81(11):888-9. PMID: 16929543 Adewoye, A.H., Chen, T.C., Ma, Q., McMahon, L.C., Mathieu, J., Malabanan, A., Steinberg., M.H., Holick, M.F. Sickle cell bone disease: response to vitamin D and calcium. Am. J. Hematol. 83: 271, 2008. PMID: 17924548

Andersson BA, Wering ME, Luo HY et al. Sickle cell disease due to compound heterozygosity for HbS and a novel 7.7-kb beta-globin gene deletion. Eur J Haematol 2007 78:82-5. PMID: 17038017

Baldwin C, Nolan VG, Wyszynski D., Ma Q, Sebastiani P, Embury SH, Bisbee A, Farrell JJ, Farrer LA, Steinberg MH. Association of Klotho, Bone Morphogenic Protein 6 and Annexin A2 Polymorphisms with Sickle Cell Osteonecrosis. Blood. 106: 372, 2005. PMID: 15784727

Basran RK, Reiss UM, Luo HY, Ware RE, Chui DH. Beta-thalassemia intermedia due to compound heterozygosity for two beta-globin gene promoter mutations, including a novel TATA box deletion. Pediatr Blood Cancer. 2006, ePub. PMID: 16732578

Bohacek R, Boosalis MS, McMartin C, Faller DV, Perrine SP. Identification of novel small molecule inducers of fetal hemoglobin using pharmacophore and ‘PSEUDO’ receptor models. Chem Biol Drug Des 2006; 67(5):318-328. PMID: 16784456

Boosalis MS, Bandyopadhayay R, Bresnick EH, Pace BS, VanDeMark K, Faller DV, Perrine SP. Short-chain fatty acid derivatives stimulate cell proliferation and induce STAT-5 activation. Blood 2007 97: 3259-3267. PMID: 11342457

Castaneda S, Boosalis MS, Emery D et al. Enhancement of growth and survival and alterations in Bcl-family proteins in beta-thalassemic erythroid progenitors by novel short-chain fatty acid derivatives. Blood Cells Mol.Dis. 2005;35:217-226. PMID: 16099182

Chan AY, Luo HY, Wang W et al. Diagnostic pitfall in PCR-based alpha-thalassemia genotyping resulting from a (G->C) polymorphism at nucleotide 71 3′ to the alpha2-globin gene termination codon. Clin Chem 2006; 52:536-537. PMID: 16510436

Chen,Z., Hong-yuan, L,. Basran, R.K., Rosenfield, C.G., Patrinos, G.P., Hardison, R.C., Steinberg, M.H., Chui, D.H.K. A T-to-G transversion at nucleotide -567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated hemoglobin F. Mol. Cell. Biol. 28: 4386, 2008. PMID: 18443038

Chen Z, Luo HY, Steinberg MH, Chui DH. BCL11A represses HBG transcription in K562 cells. Blood Cells Mol Dis. 2009 Mar-Apr;42(2):144-9. Epub 2009 Jan 18. PMID: 19153051

Chui, DH, Steinberg MH. Laboratory Detection of Hemoglobinopathies and Thalassemias. Hematology. Basic Principles and Practice, 4 ed. Hoffman, R., Benz, E. J., Jr., Shattil, S.J., Furie, B., Cohen, H. J., Silberstein, L., McGlave, P., eds, Churchill-Livingstone, New York, 2009 (in press).

Chui DHK. Alpha-thalassemia and population health in Southeast Asia. Ann Hum Biol. 32:123, 2005. PMID: 16096207

Chui DHK, Cunningham MJ, Luo HY, Wolfe LC, Neufeld EJ, Steinberg MH. Screening and counseling for thalassemia. Blood 107: 1735, 2006. PMID: 16461765

Cuenco KT, Friedland R, Baldwin CT, Guo J, Vardarajan B, Lunetta KL, Cupples LA, Green RC, Decarli C, Farrer LA; for the MIRAGE Study Group. Association of TTR polymorphisms with hippocampal atrophy in Alzheimer disease families. Neurobiol Aging. 2009 Mar 26. PMID: 19328595

Ding C, Chiu RWK, Lau TK, Leung TN, Chan LC, Chan AYY, Charoenkwan P, Ng ISL, Lau HY, Ma ESK, Xu X, Wanapirak C, Sanguansermsri T, Liao C, Ai MATJ, Chui DHK, Cantor CR, and Lo YMD. MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. Proc Natl Acad Sci, USA.101: 10762-10767, 2004. PMID: 15247415

Ferrazzi F, Sebastiani P, Ramoni MF, Bellazzi R. Bayesian approaches to reverse engineer cellular systems: a simulation study on nonlinear Gaussian networks. BMC Bioinformatics. 2007 24;8 Suppl 5:S2. PMID: 17570861

Galasso G, Schiekofer S, Sato K et al. Impaired angiogenesis in glutathione peroxidase-1-deficient mice is associated with endothelial progenitor cell dysfunction. Circ.Res. 2006;98:254-261. PMID: 16373599

Ghosh SK, Forman LW, Akinsheye I, Perrine SP, Faller DV. Short, discontinuous exposure to butyrate effectively sensitizes latently EBV-infected lymphoma cells to nucleoside analogue antiviral agents. Blood Cells Mol Dis 2007; 38(1):57-65. PMID: 17161633

Giardine B, van Baal S, Kaimakis P, Riemer C, Miller W, Samara M, Kollia P, Anagnou NP, Chui DH, Wajcman H, Hardison RC, Patrinos GP. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat. 2007;28:206. PMID: 17221864

Gibney, G.T., Panhuysen, C.I.M., So, J.C.C., Ma, E.S.K., Ha, S.Y., Li, C.K., Lee, A.C.W., Li, C.K., Yuen, H.L., Lau, Y.L., Johnson, D., Farrell, J.J., Bisbee, A., Farrer, J.J., Steinberg, M.H., Chan, L.C., Chui, D.H.K. Variation and heritability of Hb F and F-cells among β-thalassemia heterozygotes in Hong Kong. Am. J. Hematol. 83: 458, 2008. PMID: 18266208

Ingle J, Adewoye A, Dewan R, Okoli M, Rollins L, Eung S, Luo H, Steinberg MH, Chui DHK. Hemoglobin Hope: interactions with HbS, other variant hemoglobins and thalassemia. Hemoglobin 28: 277, 2004. PMID: 15658184

Jain M, Cui L, Brenner DA et al. Increased myocardial dysfunction after ischemiareperfusion in mice lacking glucose-6-phosphate dehydrogenase. Circulation 2004;109:898-903. PMID: 14757696

Johnson RC, Leopold JA, Loscalzo J. Vascular calcification: pathobiological mechanisms and clinical implications. Circ.Res. 2006;99:1044-1059. PMID: 17095733

Kane LB, Klings ES. Present and future treatment strategies for pulmonary arterial hypertension : focus on phosphodiesterase-5 inhibitors. Treat Respir Med 2006; 5(4):271-282. PMID: 16808546

Kato GJ, Gladwin MT, Steinberg MH. Deconstructing sickle cell disease: reappraisal of the role of hemolysis in the development of clinical subphenotypes. Blood Rev. 2007; 21:37-47. PMID: 17084951

Kato GJ, Hebbel RP, Steinberg MH, Gladwin MT. Vasculopathy in sickle cell disease: Biology, pathophysiology, genetics, translational medicine, and new research directions. Am J Hematol. 2009 Sep;84(9):618-25. PMID: 19610078

Klings ES, Wyszynski DF, Nolan VG, Steinberg MH. Abnormal pulmonary function in adults with sickle cell anemia: Association of decreased D CO with systemic disease. Am J.Resp Crit Care Med. 2006; 173: 1264-1268. PMID: 16556694

Klings, E.S., Bland, A., Rosenman, D., Princeton, S., Odhiambo, A., Li, G., Bernard, S.A., Steinberg, M.H., Farber, H.W. Pulmonary arterial hypertension and left-sided heart disease in sickle cell disease: clinical characteristics and association with soluble adhesion molecule expression Am. J.Hematol. 83: 547, 2008. PMID: 18383329

Klings ES, Lowry MH, Li G, Jean JC, Fernandez BO, Garcia-Saura MF, Feelisch M, Joyce-Brady M. Hyperoxia-Induced Lung Injury in Gamma-Glutamyl Transferase Deficiency Is Associated with Alterations in Nitrosative and Nitrative Stress. Am J Pathol. 2009 Oct 22. PMID: 19850887

Klings ES, Safaya S, Adewoye AH, Odhiambo A, Frampton G, Lenburg M, Gerry N, Sebastiani P, Steinberg MH, Farber HW. Differential gene expression in pulmonary artery endothelial cells exposed to sickle cell plasma. Physiol Genomics 21: 293, 2005. PMID: 15741505

Koenig SC, Becirevic E, Hellberg MS, Li MY, So JC, Hankins JS, Ware RE, McMahon L, Steinberg MH, Luo HY, Chui DH. Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients. Am J Hematol. 2009 Sep;84(9):603-6. PMID: 19650141

Lau ET, Kwok YK, Luo HY, Leung KY, Lee CP, Lam YH, Chui DHK, and Tang MHY. Simple non-invasive prenatal detection of Hb Bart’s disease by analysis of fetal erythrocytes in maternal blood. Prenatal Diag. 25: 123, 2005. PMID: 15712347

Law HY, Luo HY, Wang W, et al. Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events. Haematologica. 2006;91:297-302. PMID: 16503550

Lee JH, Cheng R, Rogaeva E et al. Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease. Neurogenetics. 2008;9:127-138. PMID: 18340469

Leopold JA, Loscalzo J. Oxidative enzymopathies and vascular disease. Arterioscler.Thromb.Vasc.Biol. 2005;25:1332-1340. PMID: 15790928

Leopold JA, Loscalzo J. Oxidative risk for atherothrombotic cardiovascular disease. Free Radic Biol Med. 2009 Sep 12. PMID: 19751821

Leopold JA, Dam A, Maron BA et al. Aldosterone impairs vascular reactivity by decreasing glucose-6-phosphate dehydrogenase activity. Nat.Med. 2007;13:189-197. PMID: 17273168

Lorey F, Cunningham G, Vichinsky E, Lubin BH, Witkowska HE, Matsunaga A, Azimi,M, Sherwin J, Eastman J, Farina F, Waye JS, and Chui DHK. Universal newborn screening for Hb H disease in California. Genetic Testing 5: 93-100, 2001. PMID: 11551109

Loscalzo J, Voetsch B, Liao R, Leopold J. Genetic determinants of vascular oxidant stress and endothelial dysfunction. Congest.Heart Fail. 2005;11:73-79. PMID: 15860972

Luo HY, Adewoye AH, Pilichowska M, Li MY, Basran RK, Steinberg MH, Chui DH. Two new alpha-thalassemia frameshift mutations. Hemoglobin. 2007;31(2):135-9.

Luo H, Irving I, Prior P, Eung S, Skelton T, Lim E, Gruang A, Walters B, Erber WN, Steinberg MH, Chui DHK. Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background. Am J Hematol. 77: 384, 2004. PMID: 15551405

Luo HY, Adewoye AH, Eung SH, Skelton TP, Quillen K, McMahon L, Steinberg MH, Chui DHK. A novel sickle hemoglobin: Hemoglobin S-South End. J Pediatr Hematol. Oncol. 26: 773, 2004. PMID: 15543018

Luo HY, Boudreaux J, Steinberg MH, Chui DHK. Thalassemia patients in the US. Blood 105: 4896, 2005.

Luo HY, Heeney M, Wang WC, Eung SH, Ware RE, Steinberg MH, Chui DHK. Hemoglobinopathies mimicking Hb S/α-thalassemia: Hb S/S with α-thalassemia and Hb S/Volga. Am J Hematol 81: 361, 2006. PMID: 16628724

Luo HY, Tang W, Eung SH, Coad JE, Canfield P, Keller F, Crowel E, Steinberg MH, Chui DHK. Dominantly Inherited α-thalassemia intermedia due to a new single nucleotide deletion in exon 2 of the α-globin gene: Hb Morgantown (α91 CTG>CG). J Clin Path. 58:1110, 2005. PMID: 16189162

Ma Q-L, Wyszynski DF, Farrell JJ et al. Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea. Pharmacogenomics J 2007; 7: 386. PMID: 17299377

Ma Q-L, Abel K, Sripichai O et al.: β-globin gene cluster polymorphisms are strongly associated with severity of Hb E/β0 thalassemia. Clinical Genetics (in press).

Machado RF, Anthi A, Steinberg MH et al. N-terminal pro-brain natriuretic peptide levels and risk of death in sickle cell disease. JAMA 2006; 296:310-318. PMID: 16849664

Mankidy R, Faller DV, Mabaera R et al. Short-chain fatty acids induce gamma-globin gene expression by displacement of a HDAC3-NCoR repressor complex. Blood 2006; 108:3179-3186. PMID: 16849648

Masiello D, Heeney MM, Adewoye AH, Eung SH, Luo HY, Steinberg MH, Chui DH. Hemoglobin SE disease-A concise review. Am J Hematol. 2007; 82:643-9. PMID: 17278112

Matsui R, Xu S, Maitland KA et al. Glucose-6 phosphate dehydrogenase deficiency decreases the vascular response to angiotensin II. Circulation 2005;112:257-263. PMID: 15998684

Matsui R, Xu S, Maitland KA et al. Glucose-6-phosphate dehydrogenase deficiency decreases vascular superoxide and atherosclerotic lesions in apolipoprotein E(-/-) mice. Arterioscler.Thromb.Vasc.Biol. 2006;26:910-916. PMID: 16439706

Meng Y, Lee JH, Cheng R et al. Association between SORL1 and Alzheimer’s disease in a genome-wide study. Neuroreport 2007;18:1761-1764. PMID: 18090307

Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP. Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants. Ann Hematol. 2009 Jun;88(6):535-43. Epub 2008 Oct 16. PMID: 18923834

Morris, C.R., Suh, J.H., Larkin, S., Bland, D.A., Steinberg, M.H., Vichinsky, E.P., Shigenaga, M., Ames, B., Kuypers, F.A., Klings, E.S. Erythrocyte glutamine depletion, altered redox environment, and pulmonary hypertension in sickle cell disease. Blood 111: 402, 2008. PMID: 17848621

Nguyen TD, Kim US, Perrine SP. Novel short chain fatty acids restore chloride secretion in cystic fibrosis. Biochem.Biophys.Res.Commun. 2006;342:245-252. PMID: 16472777

Nolan VG, Adewoye AH, Baldwin C, Wang L, Ma Q, Wyszynski DF, Farrell JJ, Sebastiani P, Farrer LA, Steinberg MH. Sickle cell leg ulcers: Associations with haemolysis and SNPs in KlOTHO, TEK and genes of the TGF-β/BMP pathway. Br J Haematol 2006; 133(5):570-8. PMID: 16681647

Nolan VG, Ma Q, Cohen HT et al. Estimated glomerular filtration rate in sickle cell anemia is associated with polymorphisms of bone morphogenetic protein receptor 1B (BMPR1B). Am J Hematol 2007 Mar; 82:179-84. PMID: 17034027

Nolan VG, Wyszynski DF, Farrer LA, Steinberg MH. Hemolysis associated priapism in sickle cell disease. Blood 106: 3264, 2005. PMID: 15985542

Nolan VG, Baldwin C, Ma QL, Wyszynski D, Amirault Y, Farrell JJ, Bisbee A, Embury SH, Farrer L, Steinberg MH. Association of single nucleotide polymorphisms in klotho with priapism in sickle cell anaemia. Br J Haematol 128: 266, 2004.

Nolan, V.G., Zhang, Y., Lash, T., Sebastiani, P., Steinberg, M.H. Association of wind speed and the occurrence of sickle cell acute painful episodes: Results of a case-crossover study. Br. J. Haematol. 2008 (in press). PMID: 19006227

Odhiambo A, Perlman DH, Huang H, Costello CE, Farber HW, Steinberg MH, McComb ME, Klings ES. Identification of oxidative post-translational modification of serum albumin in patients with idiopathic pulmonary arterial hypertension and pulmonary hypertension of sickle cell anemia. Rapid Commun Mass Spectrom. 2007;21(14):2195-203. PMID: 17569101

Patrinos GP, Giardine B, Riemer C, Miller W, Chui DHK, Anagnou NP, Wajcman H, and Hardison RC. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucl Acids Res. 32: D537-D541, 2004. PMID: 14681476

Patterson KC, Weissmann A, Ahmadi T, Farber HW. Imatinib mesylate in the treatment of refractory idiopathic pulmonary arterial hypertension. Ann Intern Med 2006; 145(2):152-153. PMID: 16847299

Perrine SP, Castaneda SA, Boosalis MS et al. Induction of Fetal Globin in {beta}-Thalassemia: Cellular Obstacles and Molecular Progress. Ann.NY Acad.Sci. 2005;1054:257-265. PMID: 16339673

Perrine SP, Hermine O, Small T, Suarez F, O’Reilly R, Boulad F, Fingeroth J, Askin M, Levy A, Mentzer SJ, Di Nicola M, Gianni AM, Klein C, Horwitz S, Faller DV. A phase ½ trial of arginine butyrate and ganciclovir in patients with Epstein-Barr virus-associated lymphoid malignancies. Blood. 2007;109:2571-8. PMID: 17119113

Rajasekaran NS, Connell P, Christians ES et al. Human alpha B-crystallin mutation causes oxido-reductive stress and protein aggregation cardiomyopathy in mice. Cell 2007;130:427-439. PMID: 17693254

Rogaeva E, Meng Y, Lee JH et al. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat.Genet. 2007;39:168-177. PMID: 17220890

Safaya, S., Klings, E.S., Odhiambo, A., Li, G., Farber, H.W., Steinberg, M.H. Effect of sodium butyrate on lung vascular TNFSF15 (vascular endothelial growth inhibitor, TL1 A) expression: Involvement of different promoter elements in pulmonary artery and microvascular endothelial cells. Cytokine (in press) 2008. PMID: 19251437

Saleh M, Vaillancourt JP, Graham RK, Huyck M, Srinivasula SM, Alnemri ES, Steinberg MH, Nolan VG, Baldwin CT, Hotchkiss RS, Buchman TG, Zehnbauer BA, Hayden MR, Farrer LA, Roy S, Nicholson DW. Association of a human caspase-12 polymorphism with endotoxin hypo-responsiveness and severe sepsis but not Alzheimer disease. Nature 429: 75, 2004.

Sebastiani P, Ramoni MF, Nolan VG, Baldwin CT, Steinberg MH. Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia. Nature Genetics 37: 435, 2005. PMID: 15778708

Sebastiani, P., Nolan, V.G., Baldwin, C.T., Abad-Grau, M.M., Wang, L., Adewoye, A.H., McMahon, L.C., Farrer, L.A., Taylor, J.T., Kato, G.J., Gladwin, M.T., Steinberg, M.H. A network model to predict the risk of death in sickle cell disease. Blood 110: 272, 2007. PMID: 17600133

Sebastiani, P., Wang, L., Nolan, V.G., Baldwin, C.T., Ma, Q., Steinberg, M.H. Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations. Am. J. Hematol. 83: 189, 2008. PMID: 17918249

Sebastiani, P., Zhao, Z., Abad-Grau, M, Riva, A., Hartley, S., Sedgewick, A., Doria, A., Montano, M., Melista, E., Terry, D., Perls, T.T., Steinberg, M.H., Baldwin, C.T. A hierarchical and modular approach to the discovery of robust associations in genomewide association studies from pooled DNA samples. BMC Genet.ePub Jan 14, 2008. PMID: 18194558

Sebastiani P, Abad-Grau MM. Bayesian estimates of linkage disequilibrium. BMC Genet. 2007;8:36. PMID: 17592642

Sebastiani P, Timofeev N, Dworkis DA, Perls TT, Steinberg MH. Genome-wide association studies and the genetic dissection of complex traits. Am J Hematol. 2009 Aug;84(8):504-15. PMID: 19569043

Sedgewick, A.E., Timofeev, N., Sebastiani, P., So, J.C.C., Ma, E.S.K., Chan, L.C., Fucharoen, G., Fucharoen, S., Barbosa, C.G., Vardarajan, B., Farrer, L.A., Baldwin, C.T., Steinberg, M.H., Chui, D.H.K. BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies. Blood Cells, Mol. and Dis.
http://dx.doi.org/10.1016/j.bcmd.2008.06.007 (in press), 2008. PMID: 18691915

Shibata N, Kawarai T, Meng Y et al. Association studies between the plasmin genes and late-onset Alzheimer’s disease. Neurobiol.Aging 2007;28:1041-1043. PMID: 16828203

Smith WR, Bauserman RL, Ballas SK, McCarthy WF, Steinberg MH, Swerdlow PS, Waclawiw MA, Barton BA; Multicenter Study of Hydroxyurea in Sickle Cell Anemia. Climatic and geographic temporal patterns of pain in the Multicenter Study of Hydroxyurea. Pain. 2009 Nov; 146(1-2):91-8. PMID: 19683393

Steinberg MH. Pneumococcus and sickle cell disease: the beginning of the end? Clin Infect Dis. 2007 Jun 1;44(11):1434-5. PMID: 17479938

Steinberg MH, Forget BG, Higgs D, Weatherall, DJ, eds. Disorders of Hemoglobin: Genetics, Pathophysiology, Clinical Management, 2nd ed, Cambridge University Press, Cambridge, 2009.

Steinberg MH, et al. Effect of hydroxyurea on mortality and morbidity in adult sickle cell anemia: risks and benefits up to 9 years of treatment. JAMA 289:1692, 2003. PMID: 12672732

Steinberg MH. Clinical variability in sickle cell anemia. UpToDate version 12.2 www.uptodate.com, 2008.

Steinberg MH. Hydroxyurea: The good, the bad, and the future. Blood 105: 441, 2005.

Steinberg MH. Predicting clinical severity in sickle cell anaemia. Br J Haematol. 129: 465, 2005. PMID: 15877729

Steinberg MH. Genetic etiologies for phenotypic diversity in sickle cell anemia. ScientificWorldJournal. 2009 Jan 18;9:46-67. PMID: 19151898

Steinberg MH, Benz EJ, Adewoye AH, Ebert BL. Pathobiology of the Human Erythrocyte and its Hemoglobins. Hematology. Basic Principles and Practice, 4th ed. Hoffman, R., Benz, E. J., Jr., Shattil, S.J., Furie, B., Cohen, H. J., Silberstein, L., McGlave, P., eds, Churchill- Livingstone, New York, 2009.

Steinberg MH. Pathophysiologically based drug treatment of sickle cell disease. Trends Pharmacol Sci 27: 204, 2006. PMID: 16530854

Steinberg MH, Adewoye AH. Modifier genes and sickle cell anemia. Current Opinion in Hematology 13: 131, 2006. PMID: 16567954

Steinberg MH. Sickle cell anemia, the first molecular disease: overview of molecular etiology, pathophysiology, and therapeutic approaches. ScientificWorldJournal. 2008 Dec 25;8:1295-324. PMID: 19112541

Steinberg, M.H. SNPing away at sickle cell pathophysiology. Blood 111: 5420, 2008.

Steinberg, M.H. Clinical trials in sickle cell disease: Adopting the combination chemotherapy paradigm. Am. J. Hematol. 83: 1, 2008. PMID: 18544690

T Cuenco K, Lunetta KL, Baldwin CT, McKee AC, Guo J, Cupples LA, Green RC, St George-Hyslop PH, Chui H, DeCarli C, Farrer LA; MIRAGE Study Group. Association of distinct variants in SORL1 with cerebrovascular and neurodegenerative changes related to Alzheimer disease. Arch Neurol. 2008 Dec;65(12):1640-8. PMID: 19064752

Thornburg CD, Steinberg MH, Chui DH. Hemoglobin SE disease in Maine, and severe thalassemia in New Hampshire. J Pediatr Hematol Oncol. 2009 Apr;31(4):307. PMID: 19346889

Taylor, J.G., IV, Nolan, V.G., Mendelsohn, L., Kato, G J., Gladwin, M.T., Steinberg, M.H. Chronic hyper-hemolysis in sickle cell anemia: association of vascular complications and mortality with less frequent vasoocclusive pain. PLoS One May 7;3(5):e2095, 2008. PMID: 18461136

Tubman VN, Bennett CM, Luo HY, Chui DH, Heeney MM. Sickle cell disease caused by Hb S/Quebec-CHORI: treatment with hydroxyurea and response. Pediatr Blood Cancer. 2007 Aug;49(2):207-10. PMID: 17551985

Umeda K, Heike T, Yoshimoto M, Shiota M, Suemori H, Luo HY, Chui DHK, Torii R, Nakatsuji N, and Nakahata T. Development of primitive and definitive hematopoiesis from nonhuman primate embryonic stem cells in vitro. Development 131: 1869-1879, 2004. PMID: 15084470

Umeda K, Heike T, Nakata-Hizume M et al. Sequential Analysis of α- and α-Globin Gene Expression During Erythropoietic Differentiation from Primate Embryonic Stem Cells. Stem Cells 2006; 24(12):2627-2636. PMID: 16888280

Walford GA, Moussignac RL, Scribner AW, Loscalzo J, Leopold JA. Hypoxia potentiates nitric oxide-mediated apoptosis in endothelial cells via peroxynitrite-induced activation of mitochondria-dependent and -independent pathways. J Biol.Chem. 2004;279:4425- 4432. PMID: 14597620

Waye JS, Chui DH. Hb Evora [alpha2-35, Ser-->Pro], a novel hemoglobin variant associated with an alpha-thalassemia phenotype. Haematologica. 2007 May;92(5):92e068. PMID: 17562600

Weinberg RS, Ji X, Sutton M et al. Butyrate increases the efficiency of translation of gamma globin mRNA. Blood. 2005;105:1807-1809. PMID: 15479724

Wilcox I, Boettger K, Greene L, Malek A, Davis L, Steinberg MH, Luo HY, Chui DH. Hemoglobin Kenya composed of alpha- and ((A)gammabeta)-fusion-globin chains, associated with hereditary persistence of fetal hemoglobin. Am J Hematol. 2009 Jan;84(1):55-8. PMID: 19006227

Wyszynski DF, Baldwin CT, Cleves MA, Amirault Y, Nolan VG, Farrell JJ, Bisbee A, Kutlar A, Farrer LA, Steinberg MH. Polymorphisms near a chromosome 6q qtl area are associated with modulation of fetal hemoglobin levels in sickle cell anemia. Cell. Mol.Biol. 50:23, 2004. PMID: 15040424

Yu Y, Kranzler HR, Panhuysen C et al. Substance dependence low-density whole genome association study in two distinct American populations. Hum.Genet. 2008;123:495-506. PMID: 18438686

Zhao Z, Timofeev N, Hartley SW, Chui DH, Fucharoen S, Perls TT, Steinberg MH, Baldwin CT, Sebastiani P. Imputation of missing genotypes: an empirical evaluation of IMPUTE. BMC Genet. 2008 Dec 12;9:85. PMID: 19077279

updated 11.3.09