U.S. Department of Health and Human Services

Genetics of Development and Disease Branch

Richard L. Proia, Ph.D., Chief

​Publications

A selection of recent and significant publications can be viewed below.

Publications
Stroncek DF, Tran M, Frodigh SE, David-Ocampo V, Ren J, Larochelle A, Sheikh V, Sereti I, Miller JL, Longin K, Sabatino M. Preliminary evaluation of a highly automated instrument for the selection of CD34+ cells from mobilized peripheral blood stem cell concentrates. Transfusion. 2015 Oct 27; 56 (56; 2015 Oct 27; 2):511-7. [Full Text/Abstract]
Krivega I, Byrnes C, de Vasconcellos JF, Lee YT, Kaushal M, Dean A, Miller JL. Inhibition of G9a methyltransferase stimulates fetal hemoglobin production by facilitating LCR/γ-globin looping. Blood. 2015 May 15; 126 (126; 2015 May 15; 5):665-72. [Full Text/Abstract]
Rabel A, Leitman SF, Miller JL. Ask about ice, then consider iron. J Am Assoc Nurse Pract. 2015 May 5; 28 (28; 2; 2015 May 5):116-20. [Full Text/Abstract]
Meier ER, Byrnes C, Weissman M, Lee YT, Miller JL. Absolute Reticulocyte Count Acts as a Surrogate for Fetal Hemoglobin in Infants and Children with Sickle Cell Anemia. PLoS One. 2015 Sep 14; 10 (2015 Sep 14; 10; 9):e0136672. [Full Text/Abstract]
Glushakova S, Balaban A, McQueen PG, Coutinho R, Miller JL, Nossal R, Fairhurst RM, Zimmerberg J. Hemoglobinopathic erythrocytes affect the intraerythrocytic multiplication of Plasmodium falciparum in vitro. J Infect Dis. 2014 May 5; 210 (210; 7; 2014 May 5):1100-9. [Full Text/Abstract]
Porter JB, Walter PB, Neumayr LD, Evans P, Bansal S, Garbowski M, Weyhmiller MG, Harmatz PR, Wood JC, Miller JL, Byrnes C, Weiss G, Seifert M, Grosse R, Grabowski D, Schmidt A, Fischer R, Nielsen P, Niemeyer C, Vichinsky E. Mechanisms of plasma non-transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients. Br J Haematol. 2014 Sep 11; 167 (2014 Sep 11; 5; 167):692-6. [Full Text/Abstract]
Meier ER, Wright EC, Miller JL. Reticulocytosis and anemia are associated with an increased risk of death and stroke in the newborn cohort of the Cooperative Study of Sickle Cell Disease. Am J Hematol. 2014 Sep; 89 (9; 2014 Sep; 89):904-6. [Full Text/Abstract]
Novgorodov SA, Riley CL, Yu J, Borg KT, Hannun YA, Proia RL, Kindy MS, Gudz TI. Essential roles of neutral ceramidase and sphingosine in mitochondrial dysfunction due to traumatic brain injury. J Biol Chem. 2014 May 9; 289 (2014 May 9; 19; 289):13142-54. [Full Text/Abstract]
Giannouli CC, Chandris P, Proia RL. Visualizing S1P-directed cellular egress by intravital imaging. Biochim Biophys Acta. 2014 May; 1841 (1841; 2014 May; 5):738-744. [Full Text/Abstract]
Kono M, Tucker AE, Tran J, Bergner JB, Turner EM, Proia RL. Sphingosine-1-phosphate receptor 1 reporter mice reveal receptor activation sites in vivo. J Clin Invest. 2014 May 1; 124 (124; 2014 May 1; 5):2076-86. [Full Text/Abstract]
de Vasconcellos JF, Fasano RM, Lee YT, Kaushal M, Byrnes C, Meier ER, Anderson M, Rabel A, Braylan R, Stroncek DF, Miller JL. LIN28A expression reduces sickling of cultured human erythrocytes. PLoS One. 2014 Sep 4; 9 (2014 Sep 4; 9):e106924. [Full Text/Abstract]
Lee YT, de Vasconcellos JF, Yuan J, Byrnes C, Noh SJ, Meier ER, Kim KS, Rabel A, Kaushal M, Muljo SA, Miller JL. LIN28B-mediated expression of fetal hemoglobin and production of fetal-like erythrocytes from adult human erythroblasts ex vivo. Blood. 2013 Aug 8; 122 (122; 6; 2013 Aug 8):1034-41. [Full Text/Abstract]
Lee YT, Kim KS, Byrnes C, de Vasconcellos JF, Noh SJ, Rabel A, Meier ER, Miller JL. A Synthetic Model of Human Beta-Thalassemia Erythropoiesis Using CD34+ Cells from Healthy Adult Donors. PLoS One. 2013; 8 (8; 7; 2013):e68307. [Full Text/Abstract]
Miller JL. Iron deficiency anemia: a common and curable disease. Cold Spring Harb Perspect Med. 2013 Jul 1; 3 (7; 3; 2013 Jul 1). [Full Text/Abstract]
Byrnes C, Lee YT, Meier ER, Rabel A, Sacks DB, Miller JL. Iron dose-dependent differentiation and enucleation of human erythroblasts in serum-free medium. J Tissue Eng Regen Med. 2013 Apr 18; 10 (2; 10; 2013 Apr 18):E84-9. [Full Text/Abstract]
Meier ER, Byrnes C, Lee YT, Wright EC, Schechter AN, Luban NL, Miller JL. Increased Reticulocytosis during Infancy Is Associated with Increased Hospitalizations in Sickle Cell Anemia Patients during the First Three Years of Life. PLoS One. 2013 Aug 7; 8 (8; 2013 Aug 7):e70794. [Full Text/Abstract]
Olivera A, Allende ML, Proia RL. Shaping the landscape: metabolic regulation of S1P gradients. Biochim Biophys Acta. 2013 Jan; 1831 (1831; 1; 2013 Jan):193-202. [Full Text/Abstract]
Meier ER, Miller JL. Sickle cell disease in children. Drugs. 2012 May 7; 72 (72; 7; 2012 May 7):895-906. [Full Text/Abstract]
Byrnes C, Terry Lee Y, Donahue RE, Miller JL. Identification of a cross-reacting, monoclonal anti-human CD233 antibody for identification and sorting of rhesus macaque erythrocytes. Cytometry A. 2012 Feb; 81 (81; 2012 Feb; 2):165-8. [Full Text/Abstract]
Kiefer CM, Lee J, Hou C, Dale RK, Lee YT, Meier ER, Miller JL, Dean A. Distinct Ldb1/NLI complexes orchestrate γ-globin repression and reactivation through ETO2 in human adult erythroid cells. Blood. 2011 Dec 1; 118 (118; 23; 2011 Dec 1):6200-8. [Full Text/Abstract]
Abraham B, Hicks W, Jia Y, Baek JH, Miller JL, Alayash AI. Isolated Hb Providence β82Asn and β82Asp fractions are more stable than native HbA(0) under oxidative stress conditions. Biochemistry. 2011 Nov 15; 50 (50; 45; 2011 Nov 15):9752-66. [Full Text/Abstract]
Allende ML, Bektas M, Lee BG, Bonifacino E, Kang J, Tuymetova G, Chen W, Saba JD, Proia RL. Sphingosine-1-phosphate lyase deficiency produces a pro-inflammatory response while impairing neutrophil trafficking. J Biol Chem. 2011 Mar 4; 286 (9; 286; 2011 Mar 4):7348-58. [Full Text/Abstract]
Tanno T, Rabel A, Alleyne M, Lee YT, Dahut WL, Gulley JL, Miller JL. Hepcidin, anaemia, and prostate cancer. BJU Int. 2011 Feb; 107 (107; 2011 Feb; 4):678-9. [Full Text/Abstract]
Meier ER, Byrnes C, Weissman M, Noel P, Luban NL, Miller JL. Expression patterns of fetal hemoglobin in sickle cell erythrocytes are both patient- and treatment-specific during childhood. Pediatr Blood Cancer. 2011 Jan; 56 (56; 2011 Jan; 1):103-9. [Full Text/Abstract]
Noh SJ, Lee YT, Byrnes C, Miller JL. A transcriptome-based examination of blood group expression. Transfus Clin Biol. 2010 Sep; 17 (17; 2010 Sep; 3):120-5. [Full Text/Abstract]
Tanno T, Rabel A, Lee YT, Yau YY, Leitman SF, Miller JL. Expression of growth differentiation factor 15 is not elevated in individuals with iron deficiency secondary to volunteer blood donation. Transfusion. 2010 Jul; 50 (7; 50; 2010 Jul):1532-5. [Full Text/Abstract]
Allende ML, Tuymetova G, Lee BG, Bonifacino E, Wu YP, Proia RL. S1P1 receptor directs the release of immature B cells from bone marrow into blood. J Exp Med. 2010 May 10; 207 (207; 5; 2010 May 10):1113-24. [Full Text/Abstract]
Olivera A, Eisner C, Kitamura Y, Dillahunt S, Allende L, Tuymetova G, Watford W, Meylan F, Diesner SC, Li L, Schnermann J, Proia RL, Rivera J. Sphingosine kinase 1 and sphingosine-1-phosphate receptor 2 are vital to recovery from anaphylactic shock in mice. J Clin Invest. 2010 May; 120 (120; 2010 May; 5):1429-40. [Full Text/Abstract]
Tanno T, Noel P, Miller JL. Growth differentiation factor 15 in erythroid health and disease. Curr Opin Hematol. 2010 May; 17 (17; 2010 May; 3):184-90. [Full Text/Abstract]
Bektas M, Allende ML, Lee BG, Chen W, Amar MJ, Remaley AT, Saba JD, Proia RL. Sphingosine 1-phosphate lyase deficiency disrupts lipid homeostasis in liver. J Biol Chem. 2010 Apr 2; 285 (2010 Apr 2; 14; 285):10880-9. [Full Text/Abstract]
Tanno T, Miller JL. Iron Loading and Overloading due to Ineffective Erythropoiesis. Adv Hematol. 2010; 2010 (2010):358283. [Full Text/Abstract]
Noh SJ, Miller SH, Lee YT, Goh SH, Marincola FM, Stroncek DF, Reed C, Wang E, Miller JL. Let-7 microRNAs are developmentally regulated in circulating human erythroid cells. J Transl Med. 2009 Nov 25; 7 (2009 Nov 25; 7):98. [Full Text/Abstract]
Sripichai O, Kiefer CM, Bhanu NV, Tanno T, Noh SJ, Goh SH, Russell JE, Rognerud CL, Ou CN, Oneal PA, Meier ER, Gantt NM, Byrnes C, Lee YT, Dean A, Miller JL. Cytokine-mediated increases in fetal hemoglobin are associated with globin gene histone modification and transcription factor reprogramming. Blood. 2009 Sep 10; 114 (2009 Sep 10; 114; 11):2299-306. [Full Text/Abstract]
Tanno T, Porayette P, Sripichai O, Noh SJ, Byrnes C, Bhupatiraju A, Lee YT, Goodnough JB, Harandi O, Ganz T, Paulson RF, Miller JL. Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells. Blood. 2009 Jul 2; 114 (114; 2009 Jul 2; 1):181-6. [Full Text/Abstract]
Tamary H, Shalev H, Perez-Avraham G, Zoldan M, Levi I, Swinkels DW, Tanno T, Miller JL. Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I. Blood. 2008 Dec 15; 112 (2008 Dec 15; 13; 112):5241-4. [Full Text/Abstract]
Alleyne M, Horne MK, Miller JL. Individualized treatment for iron-deficiency anemia in adults. Am J Med. 2008 Nov; 121 (121; 2008 Nov; 11):943-8. [Full Text/Abstract]
Rivera J, Proia RL, Olivera A. The alliance of sphingosine-1-phosphate and its receptors in immunity. Nat Rev Immunol. 2008 Oct; 8 (8; 2008 Oct; 10):753-63. [Full Text/Abstract]
Wu YP, Mizugishi K, Bektas M, Sandhoff R, Proia RL. Sphingosine kinase 1/S1P receptor signaling axis controls glial proliferation in mice with Sandhoff disease. Hum Mol Genet. 2008 Aug 1; 17 (2008 Aug 1; 17; 15):2257-64. [Full Text/Abstract]
Mizugishi K, Li C, Olivera A, Bielawski J, Bielawska A, Deng CX, Proia RL. Maternal disturbance in activated sphingolipid metabolism causes pregnancy loss in mice. J Clin Invest. 2007 Oct; 117 (2007 Oct; 117; 10):2993-3006. [Full Text/Abstract]
Tanno T, Bhanu NV, Oneal PA, Goh SH, Staker P, Lee YT, Moroney JW, Reed CH, Luban NL, Wang RH, Eling TE, Childs R, Ganz T, Leitman SF, Fucharoen S, Miller JL. High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin. Nat Med. 2007 Sep; 13 (13; 9; 2007 Sep):1096-101. [Full Text/Abstract]
Goh SH, Josleyn M, Lee YT, Danner RL, Gherman RB, Cam MC, Miller JL. The human reticulocyte transcriptome. Physiol Genomics. 2007 Jul 18; 30 (30; 2007 Jul 18; 2):172-8. [Full Text/Abstract]
Kono M, Belyantseva IA, Skoura A, Frolenkov GI, Starost MF, Dreier JL, Lidington D, Bolz SS, Friedman TB, Hla T, Proia RL. Deafness and stria vascularis defects in S1P2 receptor-null mice. J Biol Chem. 2007 Apr 6; 282 (14; 282; 2007 Apr 6):10690-6. [Full Text/Abstract]
Oneal PA, Gantt NM, Schwartz JD, Bhanu NV, Lee YT, Moroney JW, Reed CH, Schechter AN, Luban NL, Miller JL. Fetal hemoglobin silencing in humans. Blood. 2006 Sep 15; 108 (2006 Sep 15; 108; 6):2081-6. [Full Text/Abstract]
Kono M, Dreier JL, Ellis JM, Allende ML, Kalkofen DN, Sanders KM, Bielawski J, Bielawska A, Hannun YA, Proia RL. Neutral ceramidase encoded by the Asah2 gene is essential for the intestinal degradation of sphingolipids. J Biol Chem. 2006 Mar 17; 281 (281; 2006 Mar 17; 11):7324-31. [Full Text/Abstract]
Mizugishi K, Yamashita T, Olivera A, Miller GF, Spiegel S, Proia RL. Essential role for sphingosine kinases in neural and vascular development. Mol Cell Biol. 2005 Dec; 25 (25; 2005 Dec; 24):11113-21. [Full Text/Abstract]
Yamashita T, Allende ML, Kalkofen DN, Werth N, Sandhoff K, Proia RL. Conditional LoxP-flanked glucosylceramide synthase allele controlling glycosphingolipid synthesis. Genesis. 2005 Dec; 43 (43; 2005 Dec; 4):175-80. [Full Text/Abstract]
Goh SH, Lee YT, Bhanu NV, Cam MC, Desper R, Martin BM, Moharram R, Gherman RB, Miller JL. A newly discovered human alpha-globin gene. Blood. 2005 Aug 15; 106 (106; 4; 2005 Aug 15):1466-72. [Full Text/Abstract]
Yamashita T, Wu YP, Sandhoff R, Werth N, Mizukami H, Ellis JM, Dupree JL, Geyer R, Sandhoff K, Proia RL. Interruption of ganglioside synthesis produces central nervous system degeneration and altered axon-glial interactions. Proc Natl Acad Sci U S A. 2005 Feb 22; 102 (8; 102; 2005 Feb 22):2725-30. [Full Text/Abstract]
Bhanu NV, Trice TA, Lee YT, Gantt NM, Oneal P, Schwartz JD, Noel P, Miller JL. A sustained and pancellular reversal of gamma-globin gene silencing in adult human erythroid precursor cells. Blood. 2005 Jan 1; 105 (105; 2005 Jan 1; 1):387-93. [Full Text/Abstract]
Kono M, Mi Y, Liu Y, Sasaki T, Allende ML, Wu YP, Yamashita T, Proia RL. The sphingosine-1-phosphate receptors S1P1, S1P2, and S1P3 function coordinately during embryonic angiogenesis. J Biol Chem. 2004 Jul 9; 279 (28; 2004 Jul 9; 279):29367-73. [Full Text/Abstract]