ABOUT THE RESEARCHER

OVERVIEW

Dr. Brugnara’s basic research interests are focused on transport of ions across cell membrane. His studies have identified the role of specific transport proteins in inducing erythrocyte dehydration in sickle cell disease and identified new therapeutic approaches for sickle cell anemia. His most recent research has focused on genetic determinant of erythrocyte hydration and genetic diseases of red cell hydration like dehydrated stomatocytosis.

Dr. Brugnara’s clinical laboratory-based research has been focused on the use of hematological parameters to assess the balance between iron availability and erythropoiesis. He has described the appearance of functional iron deficiency in normal subjects treated with recombinant human erythropoietin (r-HuEPO) based on the particular flow cytometric characteristics of erythrocytes and reticulocytes. He has shown the clinical value of reticulocyte parameters in the setting of r-HuEPO use and in the diagnosis of iron deficiency in children.

BACKGROUND

Dr. Carlo Brugnara received his MD from the University of Verona, Italy in 1979. In 1982 he joined as a postdoctoral fellow the laboratory of Dr. Daniel Tosteson in the Department of Physiology at Harvard Medical School. He trained in Clinical Pathology and Transfusion Medicine at Brigham and Women’s Hospital in Boston from 1986 to 1990, and holds board certifications in both specialties. In 1992, he joined the Department of Laboratory Medicine at Boston Children’s Hospital as Director of the Hematology Laboratory.

Dr. Brugnara is a fellow of the American Society of Clinical Investigation, the Association of American Physicians, and the Academy of Clinical Laboratory Physicians and Scientists. Since 2007 he is the Editor-in-Chief of the American Journal of Hematology.

PUBLICATIONS

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  1. An artificial intelligence-assisted diagnostic platform for rapid near-patient hematology. Am J Hematol. 2021 Oct 01; 96(10):1264-1274. View abstract
  2. Global genome analysis reveals a vast and dynamic anellovirus landscape within the human virome. Cell Host Microbe. 2021 Aug 11; 29(8):1305-1315.e6. View abstract
  3. A Grammastola spatulata mechanotoxin-4 (GsMTx4)-sensitive cation channel mediates increased cation permeability in human hereditary spherocytosis of multiple genetic etiologies. Haematologica. 2021 Jun 10. View abstract
  4. Dietary ?-3 Fatty Acid Supplementation Improves Murine Sickle Cell Bone Disease and Reprograms Adipogenesis. Antioxidants (Basel). 2021 May 18; 10(5). View abstract
  5. The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a ß-thalassemia mouse model. J Clin Invest. 2021 May 17; 131(10). View abstract
  6. Using Reticulocyte Hemoglobin Equivalent as a Marker for Iron Deficiency and Responsiveness to Iron Therapy. Mayo Clin Proc. 2021 06; 96(6):1510-1519. View abstract
  7. Haematological effects of oral administration of bitopertin, a glycine transport inhibitor, in patients with non-transfusion-dependent ß-thalassaemia. Br J Haematol. 2021 Jul; 194(2):474-477. View abstract
  8. Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbations. Nat Immunol. 2021 05; 22(5):607-619. View abstract
  9. Less (Fe) is more (Hb) in SCA. Blood. 2021 03 18; 137(11):1446-1447. View abstract
  10. Plasmodium vivax infection compromises reticulocyte stability. Nat Commun. 2021 03 12; 12(1):1629. View abstract
  11. Haemoglobin response to senicapoc in patients with sickle cell disease: a re-analysis of the Phase III trial. Br J Haematol. 2021 03; 192(5):e129-e132. View abstract
  12. Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis. Blood Cells Mol Dis. 2021 02; 86:102504. View abstract
  13. Pediatric hematology normal ranges derived from pediatric primary care patients. Am J Hematol. 2020 Jun 12. View abstract
  14. Association of Blood Type With Postsurgical Mucosal Bleeding in Pediatric Patients Undergoing Tonsillectomy With or Without Adenoidectomy. JAMA Netw Open. 2020 03 02; 3(3):e201804. View abstract
  15. Non-Parametric Combined Reference Regions and Prediction of Clinical Risk. Clin Chem. 2020 02 01; 66(2):363-372. View abstract
  16. Corrigendum to "Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease" [Blood Cells Mol. Dis. (2019) start page-end page not yet assigned] https://doi.org/10.1016/j.bcmd.2019.102346. Blood Cells Mol Dis. 2020 Mar; 81:102390. View abstract
  17. Genetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia. Blood Cells Mol Dis. 2020 03; 81:102389. View abstract
  18. Bitopertin, a selective oral GLYT1 inhibitor, improves anemia in a mouse model of ß-thalassemia. JCI Insight. 2019 11 14; 4(22). View abstract
  19. Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease. Blood Cells Mol Dis. 2019 11; 79:102346. View abstract
  20. Monitoring of blood coagulation with non-contact drop oscillation rheometry. J Thromb Haemost. 2019 08; 17(8):1345-1353. View abstract
  21. Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ hereditary xerocytosis red cells. . 2019 08 01; 317(2):C287-C302. View abstract
  22. Highly efficient therapeutic gene editing of human hematopoietic stem cells. Nat Med. 2019 05; 25(5):776-783. View abstract
  23. Heritability of fetal hemoglobin, white cell count, and other clinical traits from a sickle cell disease family cohort. Am J Hematol. 2019 05; 94(5):522-527. View abstract
  24. Shape oscillations of single blood drops: applications to human blood and sickle cell disease. Sci Rep. 2018 11 14; 8(1):16794. View abstract
  25. Resolution of sickle cell disease-associated inflammation and tissue damage with 17R-resolvin D1. Blood. 2019 01 17; 133(3):252-265. View abstract
  26. Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients. Am J Hematol. 2018 12; 93(12):1509-1517. View abstract
  27. Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M. Hemasphere. 2018 10; 2(5):e55. View abstract
  28. A common functional PIEZO1 deletion allele associates with red blood cell density in sickle cell disease patients. Am J Hematol. 2018 11; 93(11):E362-E365. View abstract
  29. Erythrocytes lacking the Langereis blood group protein ABCB6 are resistant to the malaria parasite Plasmodium falciparum. Commun Biol. 2018; 1:45. View abstract
  30. Positive Iron Balance in Chronic Kidney Disease: How Much is Too Much and How to Tell? Am J Nephrol. 2018; 47(2):72-83. View abstract
  31. Sickle cell dehydration: Pathophysiology and therapeutic applications. Clin Hemorheol Microcirc. 2018; 68(2-3):187-204. View abstract
  32. Iron balance and iron supplementation for the female athlete: A practical approach. Eur J Sport Sci. 2018 Mar; 18(2):295-305. View abstract
  33. Knowledge of Blood Group Decreases von Willebrand Factor Panel Testing in Children. Hemasphere. 2017 12; 1(1):e3. View abstract
  34. Revised prevalence estimate of possible Hereditary Xerocytosis as derived from a large U.S. Laboratory database. Am J Hematol. 2018 01; 93(1):E9-E12. View abstract
  35. Automated cell counts on CSF samples: A multicenter performance evaluation of the GloCyte system. Int J Lab Hematol. 2018 Feb; 40(1):56-65. View abstract
  36. Genome-wide association study of erythrocyte density in sickle cell disease patients. Blood Cells Mol Dis. 2017 06; 65:60-65. View abstract
  37. Erythrocytes from hereditary xerocytosis patients heterozygous for KCNN4 V282M exhibit increased spontaneous Gardos channel-like activity inhibited by senicapoc. Am J Hematol. 2017 06; 92(6):E108-E110. View abstract
  38. Variant-aware saturating mutagenesis using multiple Cas9 nucleases identifies regulatory elements at trait-associated loci. Nat Genet. 2017 Apr; 49(4):625-634. View abstract
  39. Diagnosis of iron deficiency anemia using density-based fractionation of red blood cells. Lab Chip. 2016 10 05; 16(20):3929-3939. View abstract
  40. Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia. Haematologica. 2016 08; 101(8):909-17. View abstract
  41. The American Journal of Hematology turns 40. Am J Hematol. 2016 Jan; 91(1):4. View abstract
  42. Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells. Cell Stem Cell. 2016 Jan 07; 18(1):73-78. View abstract
  43. The Clinically Tested Gardos Channel Inhibitor Senicapoc Exhibits Antimalarial Activity. Antimicrob Agents Chemother. 2016 01; 60(1):613-6. View abstract
  44. 2015 Clinical trials update in sickle cell anemia. Am J Hematol. 2015 Oct; 90(10):934-50. View abstract
  45. Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis). Am J Hematol. 2015 Oct; 90(10):921-6. View abstract
  46. Diagnosis of iron-deficient states. Crit Rev Clin Lab Sci. 2015; 52(5):256-72. View abstract
  47. Diagnosis of iron-deficient states. Crit Rev Clin Lab Sci. 2015 Aug 14; 1-17. View abstract
  48. Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects. J Clin Invest. 2015 Sep; 125(9):3491-504. View abstract
  49. Malaria. A forward genetic screen identifies erythrocyte CD55 as essential for Plasmodium falciparum invasion. Science. 2015 May 08; 348(6235):711-4. View abstract
  50. Dietary ?-3 fatty acids protect against vasculopathy in a transgenic mouse model of sickle cell disease. Haematologica. 2015 Jul; 100(7):870-80. View abstract
  51. The utility of the DDAVP challenge test in children with low von Willebrand factor. Br J Haematol. 2015 Sep; 170(6):884-6. View abstract
  52. American Journal of Hematology, getting ready for the 40th birthday in 2016. Am J Hematol. 2015 Jan; 90(1):1. View abstract
  53. Reductions in red blood cell 2,3-diphosphoglycerate concentration during continuous renal replacment therapy. Clin J Am Soc Nephrol. 2015 Jan 07; 10(1):74-9. View abstract
  54. Evaluation of a density-based rapid diagnostic test for sickle cell disease in a clinical setting in Zambia. PLoS One. 2014; 9(12):e114540. View abstract
  55. Automated hematology analyzers: state of the art. Clin Lab Med. 2015 Mar; 35(1):xiii-xiv. View abstract
  56. Clinical utility of reticulocyte parameters. Clin Lab Med. 2015 Mar; 35(1):133-63. View abstract
  57. Optical assay of erythrocyte function in banked blood. Sci Rep. 2014 Sep 05; 4:6211. View abstract
  58. Density-based separation in multiphase systems provides a simple method to identify sickle cell disease. Proc Natl Acad Sci U S A. 2014 Oct 14; 111(41):14864-9. View abstract
  59. FOXO3-mTOR metabolic cooperation in the regulation of erythroid cell maturation and homeostasis. Am J Hematol. 2014 Oct; 89(10):954-63. View abstract
  60. Hereditary xerocytosis revisited. Am J Hematol. 2014 Dec; 89(12):1142-6. View abstract
  61. Aging-like phenotype and defective lineage specification in SIRT1-deleted hematopoietic stem and progenitor cells. Stem Cell Reports. 2014 Jul 08; 3(1):44-59. View abstract
  62. Alpha-thalassaemia and response to hydroxyurea in sickle cell anaemia. Eur J Haematol. 2014 Apr; 92(4):341-5. View abstract
  63. Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report. Blood Cells Mol Dis. 2014 Jan; 52(1):53-4. View abstract
  64. Resveratrol accelerates erythroid maturation by activation of FoxO3 and ameliorates anemia in beta-thalassemic mice. Haematologica. 2014 Feb; 99(2):267-75. View abstract
  65. Red cell indices in classification and treatment of anemias: from M.M. Wintrobes's original 1934 classification to the third millennium. Curr Opin Hematol. 2013 May; 20(3):222-30. View abstract
  66. Strain-specific variations in cation content and transport in mouse erythrocytes. Physiol Genomics. 2013 May 01; 45(9):343-50. View abstract
  67. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood. 2013 May 09; 121(19):3925-35, S1-12. View abstract
  68. Expansion of host cellular niche can drive adaptation of a zoonotic malaria parasite to humans. Nat Commun. 2013; 4:1638. View abstract
  69. Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. Am J Hematol. 2013 Jan; 88(1):66-72. View abstract
  70. Calpain-1 knockout reveals broad effects on erythrocyte deformability and physiology. Biochem J. 2012 Nov 15; 448(1):141-52. View abstract
  71. Iron deficiency: what are the future trends in diagnostics and therapeutics? Clin Chem. 2013 May; 59(5):740-5. View abstract
  72. Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts. Nature. 2012 Nov 22; 491(7425):608-12. View abstract
  73. Pharmacological inhibition of calpain-1 prevents red cell dehydration and reduces Gardos channel activity in a mouse model of sickle cell disease. FASEB J. 2013 Feb; 27(2):750-9. View abstract
  74. Erythrocyte density in sickle cell syndromes is associated with specific clinical manifestations and hemolysis. Blood. 2012 Oct 11; 120(15):3136-41. View abstract
  75. Oxygen gas-filled microparticles provide intravenous oxygen delivery. Sci Transl Med. 2012 Jun 27; 4(140):140ra88. View abstract
  76. An appeal to medical journal editors: the need for a full description of laboratory methods and specimen handling in clinical study reports. Am J Hematol. 2012 Apr; 87(4):347-8. View abstract
  77. An appeal to medical journal editors: the need for a full description of laboratory methods and specimen handling in clinical study reports. Transfusion. 2012 Jun; 52(6):e17-9. View abstract
  78. An appeal to medical journal editors: the need for a full description of laboratory methods and specimen handling in clinical study reports. Clin Chem Lab Med. 2012 Mar; 50(3):411-3. View abstract
  79. An appeal to medical journal editors: the need for a full description of laboratory methods and specimen handling in clinical study reports. Scand J Clin Lab Invest. 2012 Apr; 72(2):89-91. View abstract
  80. An appeal to medical journal editors: the need for a full description of laboratory methods and specimen handling in clinical study reports. Clin Biochem. 2012 Feb; 45(3):185-6. View abstract
  81. An appeal to medical journal editors: the need for a full description of laboratory methods and specimen handling in clinical study reports. Statement by the Consortium of Laboratory Medicine Journal Editors. Ann Clin Biochem. 2012 Mar; 49(Pt 2):105-7. View abstract
  82. An appeal to medical journal editors: the need for a full description of laboratory methods and specimen handling in clinical study reports. Clin Chem. 2012 Mar; 58(3):483-5. View abstract
  83. An appeal to medical journal editors: the need for a full description of laboratory methods and specimen handling in clinical study reports. Clin Chim Acta. 2012 Apr 11; 413(7-8):653-5. View abstract
  84. Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S. . 2011 Dec; 301(6):C1325-43. View abstract
  85. Full-disclosure in industry-sponsored laboratory medicine research studies: Statement by the Consortium of Laboratory Medicine Journal Editors. Am J Hematol. 2011 Mar; 86(3):244. View abstract
  86. The effects of hydroxycarbamide and magnesium on haemoglobin SC disease: results of the multi-centre CHAMPS trial. Br J Haematol. 2011 Mar; 152(6):771-6. View abstract
  87. Full disclosure in industry-sponsored laboratory medicine research studies: statement by the Consortium of Laboratory Medicine Journal Editors. Ann Clin Biochem. 2011 Jan; 48(Pt 1):5-6. View abstract
  88. Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis. . 2011 May; 300(5):C1034-46. View abstract
  89. Full disclosure in industry-sponsored laboratory medicine research studies: statement by the Consortium of Laboratory Medicine Journal Editors. Transfusion. 2012 Jun; 52(6):e15-6. View abstract
  90. Full disclosure in industry-sponsored laboratory medicine research studies: Statement by the Consortium of Laboratory Medicine Journal Editors. Clin Biochem. 2011 Feb; 44(2-3):149-50. View abstract
  91. Full-disclosure in industry-sponsored laboratory medicine research studies: statement by the Consortium of Laboratory Medicine Journal Editors. Scand J Clin Lab Invest. 2011 May; 71(3):177-8. View abstract
  92. Full disclosure in industry-sponsored laboratory medicine research studies: statement by the Consortium of Laboratory Medicine Journal Editors. Clin Chem. 2011 Mar; 57(3):359-60. View abstract
  93. Full-disclosure in industry-sponsored laboratory medicine research studies: statement by the Consortium of Laboratory Medicine Journal Editors. Clin Chem Lab Med. 2011 Jan; 49(1):3-4. View abstract
  94. Full-disclosure in industry-sponsored laboratory medicine research studies: statement by the Consortium of Laboratory Medicine Journal Editors. Clin Chim Acta. 2011 Mar 18; 412(7-8):491-2. View abstract
  95. In vitro genetic analysis of an erythrocyte determinant of malaria infection. J Infect Dis. 2010 Dec 01; 202(11):1722-7. View abstract
  96. Sequence variation at multiple loci influences red cell hemoglobin concentration. Blood. 2010 Dec 16; 116(25):e139-49. View abstract
  97. Automated reticulocyte counting: state of the art and clinical applications in the evaluation of erythropoiesis. Clin Chem Lab Med. 2010 Oct; 48(10):1369-80. View abstract
  98. Hypoxia activates a Ca2+-permeable cation conductance sensitive to carbon monoxide and to GsMTx-4 in human and mouse sickle erythrocytes. PLoS One. 2010 Jan 15; 5(1):e8732. View abstract
  99. Early detection of response to hydroxyurea therapy in patients with sickle cell anemia. Hemoglobin. 2010; 34(5):424-9. View abstract
  100. Chemical crosslinking studies with the mouse Kcc1 K-Cl cotransporter. Blood Cells Mol Dis. 2009 May-Jun; 42(3):233-40. View abstract
  101. An immunoassay for human serum hepcidin at last: Ganz klar? Blood. 2008 Nov 15; 112(10):3922-3. View abstract
  102. PTPepsilon has a critical role in signaling transduction pathways and phosphoprotein network topology in red cells. Proteomics. 2008 Nov; 8(22):4695-708. View abstract
  103. Use of a preoperative bleeding questionnaire in pediatric patients who undergo adenotonsillectomy. Otolaryngol Head Neck Surg. 2008 Oct; 139(4):546-550. View abstract
  104. An economic analysis of anemia prevention during infancy. J Pediatr. 2009 Jan; 154(1):44-9. View abstract
  105. Use of erythropoiesis stimulating agents and intravenous iron for cancer and treatment-related anaemia: the need for predictors and indicators of effectiveness has not abated. Br J Haematol. 2008 Jul; 142(1):3-10. View abstract
  106. Reduced DIDS-sensitive chloride conductance in Ae1-/- mouse erythrocytes. Blood Cells Mol Dis. 2008 Jul-Aug; 41(1):22-34. View abstract
  107. Protective effects of phosphodiesterase-4 (PDE-4) inhibition in the early phase of pulmonary arterial hypertension in transgenic sickle cell mice. FASEB J. 2008 Jun; 22(6):1849-60. View abstract
  108. Phase I study of magnesium pidolate in combination with hydroxycarbamide for children with sickle cell anaemia. Br J Haematol. 2008 Jan; 140(1):80-5. View abstract
  109. Foxo3 is required for the regulation of oxidative stress in erythropoiesis. J Clin Invest. 2007 Aug; 117(8):2133-44. View abstract
  110. Quantitative trait loci for peripheral blood cell counts: a study in baboons. Mamm Genome. 2007 May; 18(5):361-72. View abstract
  111. Disruption of erythroid K-Cl cotransporters alters erythrocyte volume and partially rescues erythrocyte dehydration in SAD mice. J Clin Invest. 2007 Jun; 117(6):1708-17. View abstract
  112. [Clinical trials of new therapeutic pharmacology for sickle cell disease]. Sante. 2006 Oct-Dec; 16(4):263-8. View abstract
  113. Reticulocyte hemoglobin equivalent (Ret He) and assessment of iron-deficient states. Clin Lab Haematol. 2006 Oct; 28(5):303-8. View abstract
  114. Teaching pediatric laboratory medicine to pathology residents. Arch Pathol Lab Med. 2006 Jul; 130(7):1031-8. View abstract
  115. Effect of complete protein 4.1R deficiency on ion transport properties of murine erythrocytes. . 2006 Nov; 291(5):C880-6. View abstract
  116. Protective effects of S-nitrosoalbumin on lung injury induced by hypoxia-reoxygenation in mouse model of sickle cell disease. . 2006 Sep; 291(3):L457-65. View abstract
  117. Quantitative trait loci for baseline erythroid traits. Mamm Genome. 2006 Apr; 17(4):298-309. View abstract
  118. Suppression of Fas-FasL coexpression by erythropoietin mediates erythroblast expansion during the erythropoietic stress response in vivo. Blood. 2006 Jul 01; 108(1):123-33. View abstract
  119. Regulation of K-Cl cotransport by protein phosphatase 1alpha in mouse erythrocytes. Pflugers Arch. 2006 Mar; 451(6):760-8. View abstract
  120. Quantitative trait loci for baseline white blood cell count, platelet count, and mean platelet volume. Mamm Genome. 2005 Oct; 16(10):749-63. View abstract
  121. Screening healthy infants for iron deficiency using reticulocyte hemoglobin content. JAMA. 2005 Aug 24; 294(8):924-30. View abstract
  122. An algorithm using reticulocyte hemoglobin content (CHr) measurement in screening adolescents for iron deficiency. J Adolesc Health. 2005 Jun; 36(6):529. View abstract
  123. Genetic influences on peripheral blood cell counts: a study in baboons. Blood. 2005 Aug 15; 106(4):1210-4. View abstract
  124. Evidence for a protective role of the Gardos channel against hemolysis in murine spherocytosis. Blood. 2005 Aug 15; 106(4):1454-9. View abstract
  125. Protein phosphatase 1alpha is tyrosine-phosphorylated and inactivated by peroxynitrite in erythrocytes through the src family kinase fgr. Free Radic Biol Med. 2005 Jun 15; 38(12):1625-36. View abstract
  126. 5-hydroxymethyl-2-furfural modifies intracellular sickle haemoglobin and inhibits sickling of red blood cells. Br J Haematol. 2005 Feb; 128(4):552-61. View abstract
  127. In vivo reduction of erythrocyte oxidant stress in a murine model of beta-thalassemia. Haematologica. 2004 Nov; 89(11):1287-98. View abstract
  128. Abnormal regulation of Mg2+ transport via Na/Mg exchanger in sickle erythrocytes. Blood. 2005 Jan 01; 105(1):382-6. View abstract
  129. Physiological roles of the intermediate conductance, Ca2+-activated potassium channel Kcnn4. J Biol Chem. 2004 Nov 12; 279(46):47681-7. View abstract
  130. Daily multivitamins with iron to prevent anemia in high-risk infants: a randomized clinical trial. Pediatrics. 2004 Jul; 114(1):86-93. View abstract
  131. Automated flow cytometric analysis of blood cells in cerebrospinal fluid: analytic performance. Am J Clin Pathol. 2004 May; 121(5):690-700. View abstract
  132. Iron therapy in the pediatric hemodialysis population. Pediatr Nephrol. 2004 Jun; 19(6):655-61. View abstract
  133. Sickle cell disease: from membrane pathophysiology to novel therapies for prevention of erythrocyte dehydration. J Pediatr Hematol Oncol. 2003 Dec; 25(12):927-33. View abstract
  134. Iron deficiency and erythropoiesis: new diagnostic approaches. Clin Chem. 2003 Oct; 49(10):1573-8. View abstract
  135. Hydroxyurea and sickle cell disease: a chance for every patient. JAMA. 2003 Apr 02; 289(13):1692-4. View abstract
  136. Preliminary assessment of inhaled nitric oxide for acute vaso-occlusive crisis in pediatric patients with sickle cell disease. JAMA. 2003 Mar 05; 289(9):1136-42. View abstract
  137. Regulation of K-Cl cotransport during reticulocyte maturation and erythrocyte aging in normal and sickle erythrocytes. . 2003 Jul; 285(1):C31-8. View abstract
  138. ICA-17043, a novel Gardos channel blocker, prevents sickled red blood cell dehydration in vitro and in vivo in SAD mice. Blood. 2003 Mar 15; 101(6):2412-8. View abstract
  139. A hematologic "gold standard" for iron-deficient states? Clin Chem. 2002 Jul; 48(7):981-2. View abstract
  140. Headpiece domain of dematin is required for the stability of the erythrocyte membrane. Proc Natl Acad Sci U S A. 2002 May 14; 99(10):6637-42. View abstract
  141. Pediatric laboratory medicine: current challenges and future opportunities. Am J Clin Pathol. 2002 May; 117(5):683-90. View abstract
  142. Developing treatment for sickle cell disease. Expert Opin Investig Drugs. 2002 May; 11(5):645-59. View abstract
  143. Failure of red blood cell maturation in mice with defects in the high-density lipoprotein receptor SR-BI. Blood. 2002 Mar 01; 99(5):1817-24. View abstract
  144. Modulation of Gardos channel activity by cytokines in sickle erythrocytes. Blood. 2002 Jan 01; 99(1):357-603. View abstract
  145. Pathophysiological-based approaches to treatment of sickle cell disease. Annu Rev Med. 2003; 54:89-112. View abstract
  146. Ineffective erythropoiesis in Stat5a(-/-)5b(-/-) mice due to decreased survival of early erythroblasts. Blood. 2001 Dec 01; 98(12):3261-73. View abstract
  147. Erythrocyte-active agents and treatment of sickle cell disease. Semin Hematol. 2001 Oct; 38(4):324-32. View abstract
  148. K-Cl cotransport modulation by intracellular Mg in erythrocytes from mice bred for low and high Mg levels. . 2001 Oct; 281(4):C1385-95. View abstract
  149. A dominant negative mutant of the KCC1 K-Cl cotransporter: both N- and C-terminal cytoplasmic domains are required for K-Cl cotransport activity. J Biol Chem. 2001 Nov 09; 276(45):41870-8. View abstract
  150. Novel therapies for prevention of erythrocyte dehydration in sickle cell anemia. Drug News Perspect. 2001 May; 14(4):208-20. View abstract
  151. Treatment with NS3623, a novel Cl-conductance blocker, ameliorates erythrocyte dehydration in transgenic SAD mice: a possible new therapeutic approach for sickle cell disease. Blood. 2001 Mar 01; 97(5):1451-7. View abstract
  152. Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II): value in differential diagnosis with hereditary spherocytosis. Clin Lab Haematol. 2001 Feb; 23(1):7-13. View abstract
  153. Therapeutic strategies for prevention of sickle cell dehydration. Blood Cells Mol Dis. 2001 Jan-Feb; 27(1):71-80. View abstract
  154. Prevention of red cell dehydration: a possible new treatment for sickle cell disease. Pediatr Pathol Mol Med. 2001 Jan-Feb; 20(1):15-25. View abstract
  155. Reticulocyte parameters as potential discriminators of recombinant human erythropoietin abuse in elite athletes. Int J Sports Med. 2000 Oct; 21(7):471-9. View abstract
  156. Stimulation of human erythrocyte K-Cl cotransport and protein phosphatase type 2A by n-ethylmaleimide: role of intracellular Mg++. J Membr Biol. 2000 Sep 15; 177(2):159-68. View abstract
  157. Erythropoietin, iron, and erythropoiesis. Blood. 2000 Aug 01; 96(3):823-33. View abstract
  158. E2F4 is essential for normal erythrocyte maturation and neonatal viability. Mol Cell. 2000 Aug; 6(2):281-91. View abstract
  159. Structure and genetic polymorphism of the mouse KCC1 gene. Biochim Biophys Acta. 2000 Jul 24; 1492(2-3):353-61. View abstract
  160. Plasminogen activator inhibitor-1: defining characteristics in the cerebrospinal fluid of newborns. J Pediatr. 2000 Jul; 137(1):132-4. View abstract
  161. A novel method utilising markers of altered erythropoiesis for the detection of recombinant human erythropoietin abuse in athletes. Haematologica. 2000 Jun; 85(6):564-72. View abstract
  162. Maximum urine concentrating ability in children with Hb SC disease: effects of hydroxyurea. Am J Hematol. 2000 May; 64(1):47-52. View abstract
  163. Hemolytic anemia induced by ribavirin therapy in patients with chronic hepatitis C virus infection: role of membrane oxidative damage. Hepatology. 2000 Apr; 31(4):997-1004. View abstract
  164. Reticulocyte cellular indices: a new approach in the diagnosis of anemias and monitoring of erythropoietic function. Crit Rev Clin Lab Sci. 2000 Apr; 37(2):93-130. View abstract
  165. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature. 2000 Feb 17; 403(6771):776-81. View abstract
  166. Oral magnesium pidolate: effects of long-term administration in patients with sickle cell disease. Br J Haematol. 2000 Feb; 108(2):284-9. View abstract
  167. Formation of dense erythrocytes in SAD mice exposed to chronic hypoxia: evaluation of different therapeutic regimens and of a combination of oral clotrimazole and magnesium therapies. Blood. 1999 Dec 15; 94(12):4307-13. View abstract
  168. Mouse K-Cl cotransporter KCC1: cloning, mapping, pathological expression, and functional regulation. Am J Physiol. 1999 11; 277(5):C899-912. View abstract
  169. Serine/threonine protein phosphatases and regulation of K-Cl cotransport in human erythrocytes. Am J Physiol. 1999 11; 277(5):C926-36. View abstract
  170. Endothelins activate Ca(2+)-gated K(+) channels via endothelin B receptors in CD-1 mouse erythrocytes. Am J Physiol. 1999 10; 277(4):C746-54. View abstract
  171. Targeted disruption of the beta adducin gene (Add2) causes red blood cell spherocytosis in mice. Proc Natl Acad Sci U S A. 1999 Sep 14; 96(19):10717-22. View abstract
  172. Fetal anemia and apoptosis of red cell progenitors in Stat5a-/-5b-/- mice: a direct role for Stat5 in Bcl-X(L) induction. Cell. 1999 Jul 23; 98(2):181-91. View abstract
  173. Reticulocyte hemoglobin content to diagnose iron deficiency in children. JAMA. 1999 Jun 16; 281(23):2225-30. View abstract
  174. Mild spherocytosis and altered red cell ion transport in protein 4. 2-null mice. J Clin Invest. 1999 Jun; 103(11):1527-37. View abstract
  175. Structural and functional consequences of antigenic modulation of red blood cells with methoxypoly(ethylene glycol). Blood. 1999 Mar 15; 93(6):2121-7. View abstract
  176. The effect of hemoglobin A and S on the volume- and pH-dependence of K-Cl cotransport in human erythrocyte ghosts. J Membr Biol. 1999 Feb 01; 167(3):233-40. View abstract
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