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Carlo Brugnara, M.D.


Ion transport across biological membranes plays a crucial role in several physiological and pathological processes. My research has been focused on the study of the transport systems mediating transport of Na and K across the membrane of erythrocytes. My studies have addressed the issue of how these transporters induce cellular dehydration in sickle cell disease and whether we can use the knowledge gained from the study of these systems to develop new therapeutic approaches for sickle cell anemia. This approach is relevant to the pathogenesis and potential therapy of this disease because it is known that dehydration of sickle erythrocytes promotes sickling and may have a major role in the vascular complications of this disease.
My clinical laboratory-based research has been focused on the use of hematological parameters to assess the balance between iron availability and erythropoiesis. We have 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. We have shown the clinical value of reticulocyte parameters in the setting of r-HuEPO use and in the diagnosis of iron deficiency in children.

The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. R01HL081497 (BRUGNARA, CARLO) Apr 1, 2006 - Mar 31, 2011
    Genetic Determinants of Erythrocyte Hydration
    Role: Principal Investigator
  2. R01DK050422 (BRUGNARA, CARLO) Sep 30, 1995 - Jun 30, 2007
    Magnesium and Sickle Cell Disease
    Role: Principal Investigator
  3. R01HL036076 (BRUGNARA, CARLO) Apr 1, 1986 - Mar 31, 1989
    Role: Principal Investigator
  4. M01RR002172 (MANDELL, JAMES WILLIAM) Jan 1, 1983 - Mar 31, 2009
    General Clinical Research Center
    Role: Co-Principal Investigator
  5. P60HL015157 (STEINBERG, MARTIN H.) Apr 1, 1977 - Mar 31, 2004
    Role: Co-Principal Investigator

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Bachar N, Benbassat D, Brailovsky D, Eshel Y, Glück D, Levner D, Levy S, Pecker S, Yurkovsky E, Zait A, Sever C, Kratz A, Brugnara C. An artificial intelligence-assisted diagnostic platform for rapid near-patient hematology. Am J Hematol. 2021 Oct 01; 96(10):1264-1274. PMID: 34264525.
    Citations:    Fields:    
  2. Arze CA, Springer S, Dudas G, Patel S, Bhattacharyya A, Swaminathan H, Brugnara C, Delagrave S, Ong T, Kahvejian A, Echelard Y, Weinstein EG, Hajjar RJ, Andersen KG, Yozwiak NL. 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. PMID: 34320399.
    Citations:    Fields:    
  3. Vandorpe DH, Shmukler BE, Ilboudo Y, Bhasin S, Thomas B, Rivera A, Wohlgemuth JG, Dlott JS, Snyder LM, Sieff C, Bhasin M, Lettre G, Brugnara C, Alper SL. 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. PMID: 34109777.
    Citations:    Fields:    
  4. Valenti MT, Mattè A, Federti E, Puder M, Anez-Bustillos L, Deiana M, Cheri S, Minoia A, Brugnara C, Di Paolo ML, Dalle Carbonare L, De Franceschi L. Dietary ?-3 Fatty Acid Supplementation Improves Murine Sickle Cell Bone Disease and Reprograms Adipogenesis. Antioxidants (Basel). 2021 May 18; 10(5). PMID: 34070133.
  5. Matte A, Federti E, Kung C, Kosinski PA, Narayanaswamy R, Russo R, Federico G, Carlomagno F, Desbats MA, Salviati L, Leboeuf C, Valenti MT, Turrini F, Janin A, Yu S, Beneduce E, Ronseaux S, Iatcenko I, Dang L, Ganz T, Jung CL, Iolascon A, Brugnara C, De Franceschi L. The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a ß-thalassemia mouse model. J Clin Invest. 2021 May 17; 131(10). PMID: 33822774.
    Citations:    Fields:    
  6. Auerbach M, Staffa SJ, Brugnara C. Using Reticulocyte Hemoglobin Equivalent as a Marker for Iron Deficiency and Responsiveness to Iron Therapy. Mayo Clin Proc. 2021 06; 96(6):1510-1519. PMID: 33952394.
    Citations:    Fields:    Translation:HumansCells
  7. Taher AT, Viprakasit V, Cappellini MD, Kraus D, Cech P, Volz D, Winter E, Nave S, Dukart J, Khwaja O, Koerner A, Hermosilla R, Brugnara C. 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. PMID: 33931857.
    Citations:    Fields:    
  8. Zemmour D, Charbonnier LM, Leon J, Six E, Keles S, Delville M, Benamar M, Baris S, Zuber J, Chen K, Neven B, Garcia-Lloret MI, Ruemmele FM, Brugnara C, Cerf-Bensussan N, Rieux-Laucat F, Cavazzana M, André I, Chatila TA, Mathis D, Benoist C. 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. PMID: 33833438.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  9. Brugnara C. Less (Fe) is more (Hb) in SCA. Blood. 2021 03 18; 137(11):1446-1447. PMID: 33734335.
    Citations:    Fields:    Translation:Humans
  10. Clark MA, Kanjee U, Rangel GW, Chery L, Mascarenhas A, Gomes E, Rathod PK, Brugnara C, Ferreira MU, Duraisingh MT. Plasmodium vivax infection compromises reticulocyte stability. Nat Commun. 2021 03 12; 12(1):1629. PMID: 33712609.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  11. Ataga KI, Staffa SJ, Brugnara C, Stocker JW. 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. PMID: 33527340.
    Citations:    Fields:    Translation:Humans
  12. Ilboudo Y, Garrett ME, Bartolucci P, Brugnara C, Clish CB, Hirschhorn JN, Galactéros F, Ashley-Koch AE, Telen MJ, Lettre G. Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis. Blood Cells Mol Dis. 2021 02; 86:102504. PMID: 32949984.
    Citations:    Fields:    Translation:Humans
  13. Staffa SJ, Joerger JD, Henry E, Christensen RD, Brugnara C, Zurakowski D. Pediatric hematology normal ranges derived from pediatric primary care patients. Am J Hematol. 2020 Jun 12. PMID: 32530536.
    Citations: 2     Fields:    
  14. Archer NM, Forbes PW, Dargie J, Manganella J, Licameli GR, Kenna MA, Brugnara C. 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. PMID: 32232448.
    Citations: 1     Fields:    Translation:Humans
  15. Malka R, Brugnara C, Cialic R, Higgins JM. Non-Parametric Combined Reference Regions and Prediction of Clinical Risk. Clin Chem. 2020 02 01; 66(2):363-372. PMID: 32040586.
    Citations:    Fields:    Translation:Humans
  16. Shmukler BE, Rivera A, Bhargava P, Nishimura K, Hsu A, Kim EH, Trudel M, Rust MB, Hubner CA, Brugnara C, Alper SL. 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. PMID: 31931456.
    Citations:    Fields:    
  17. Shmukler BE, Rivera A, Bhargava P, Nishimura K, Kim EH, Hsu A, Wohlgemuth JG, Morton J, Snyder LM, De Franceschi L, Rust MB, Hubner CA, Brugnara C, Alper SL. Genetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia. Blood Cells Mol Dis. 2020 03; 81:102389. PMID: 31835175.
    Citations: 2     Fields:    Translation:AnimalsCells
  18. Matte A, Federti E, Winter M, Koerner A, Harmeier A, Mazer N, Tomka T, Di Paolo ML, De Falco L, Andolfo I, Beneduce E, Iolascon A, Macias-Garcia A, Chen JJ, Janin A, Lebouef C, Turrini F, Brugnara C, De Franceschi L. Bitopertin, a selective oral GLYT1 inhibitor, improves anemia in a mouse model of ß-thalassemia. JCI Insight. 2019 11 14; 4(22). PMID: 31593554.
    Citations: 3     Fields:    Translation:AnimalsCells
  19. Shmukler BE, Rivera A, Bhargava P, Nishimura K, Hsu A, Kim EH, Trudel M, Rust MB, Hubner CA, Brugnara C, Alper SL. 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. PMID: 31352162.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  20. Ansari Hosseinzadeh V, Brugnara C, Emani S, Khismatullin D, Holt RG. Monitoring of blood coagulation with non-contact drop oscillation rheometry. J Thromb Haemost. 2019 08; 17(8):1345-1353. PMID: 31099102.
    Citations: 1     Fields:    Translation:Humans
  21. Rivera A, Vandorpe DH, Shmukler BE, Andolfo I, Iolascon A, Archer NM, Shabani E, Auerbach M, Hamerschlak N, Morton J, Wohlgemuth JG, Brugnara C, Snyder LM, Alper SL. Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ hereditary xerocytosis red cells. . 2019 08 01; 317(2):C287-C302. PMID: 31091145.
    Citations: 3     Translation:HumansCells
  22. Wu Y, Zeng J, Roscoe BP, Liu P, Yao Q, Lazzarotto CR, Clement K, Cole MA, Luk K, Baricordi C, Shen AH, Ren C, Esrick EB, Manis JP, Dorfman DM, Williams DA, Biffi A, Brugnara C, Biasco L, Brendel C, Pinello L, Tsai SQ, Wolfe SA, Bauer DE. Highly efficient therapeutic gene editing of human hematopoietic stem cells. Nat Med. 2019 05; 25(5):776-783. PMID: 30911135.
    Citations: 91     Fields:    Translation:HumansCells
  23. Bao EL, Lareau CA, Brugnara C, Fulcher IR, Barau C, Moutereau S, Habibi A, Badaoui B, Berkenou J, Bartolucci P, Galactéros F, Platt OS, Mahaney M, Sankaran VG. 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. PMID: 30680775.
    Citations: 3     Fields:    Translation:HumansCTClinical Trials
  24. Hosseinzadeh VA, Brugnara C, Holt RG. Shape oscillations of single blood drops: applications to human blood and sickle cell disease. Sci Rep. 2018 11 14; 8(1):16794. PMID: 30429489.
    Citations: 4     Fields:    Translation:HumansCells
  25. Matte A, Recchiuti A, Federti E, Koehl B, Mintz T, El Nemer W, Tharaux PL, Brousse V, Andolfo I, Lamolinara A, Weinberg O, Siciliano A, Norris PC, Riley IR, Iolascon A, Serhan CN, Brugnara C, De Franceschi L. Resolution of sickle cell disease-associated inflammation and tissue damage with 17R-resolvin D1. Blood. 2019 01 17; 133(3):252-265. PMID: 30404812.
    Citations: 19     Fields:    Translation:HumansAnimalsCells
  26. Andolfo I, Russo R, Rosato BE, Manna F, Gambale A, Brugnara C, Iolascon A. Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients. Am J Hematol. 2018 12; 93(12):1509-1517. PMID: 30187933.
    Citations: 14     Fields:    Translation:HumansCells
  27. Gnanasambandam R, Rivera A, Vandorpe DH, Shmukler BE, Brugnara C, Snyder LM, Andolfo I, Iolascon A, Silveira PA, Hamerschlak N, Gottlieb P, Alper SL. 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. PMID: 30887001.
    Citations: 1     
  28. Ilboudo Y, Bartolucci P, Garrett ME, Ashley-Koch A, Telen M, Brugnara C, Galactéros F, Lettre G. 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. PMID: 30105803.
    Citations: 3     Fields:    Translation:HumansCells
  29. Egan ES, Weekes MP, Kanjee U, Manzo J, Srinivasan A, Lomas-Francis C, Westhoff C, Takahashi J, Tanaka M, Watanabe S, Brugnara C, Gygi SP, Tani Y, Duraisingh MT. Erythrocytes lacking the Langereis blood group protein ABCB6 are resistant to the malaria parasite Plasmodium falciparum. Commun Biol. 2018; 1:45. PMID: 30271928.
    Citations: 6     
  30. Wish JB, Aronoff GR, Bacon BR, Brugnara C, Eckardt KU, Ganz T, Macdougall IC, Núñez J, Perahia AJ, Wood JC. Positive Iron Balance in Chronic Kidney Disease: How Much is Too Much and How to Tell? Am J Nephrol. 2018; 47(2):72-83. PMID: 29439253.
    Citations: 21     Fields:    Translation:Humans
  31. Brugnara C. Sickle cell dehydration: Pathophysiology and therapeutic applications. Clin Hemorheol Microcirc. 2018; 68(2-3):187-204. PMID: 29614632.
    Citations: 4     Fields:    Translation:Humans
  32. Pedlar CR, Brugnara C, Bruinvels G, Burden R. Iron balance and iron supplementation for the female athlete: A practical approach. Eur J Sport Sci. 2018 Mar; 18(2):295-305. PMID: 29280410.
    Citations: 15     Fields:    Translation:Humans
  33. Archer NM, Forbes PW, Brugnara C. Knowledge of Blood Group Decreases von Willebrand Factor Panel Testing in Children. Hemasphere. 2017 12; 1(1):e3. PMID: 31723732.
    Citations: 1     
  34. Kaufman HW, Niles JK, Gallagher DR, Rivera A, Alper SL, Brugnara C, Snyder LM. 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. PMID: 28971500.
    Citations: 4     Fields:    Translation:Humans
  35. Hod EA, Brugnara C, Pilichowska M, Sandhaus LM, Luu HS, Forest SK, Netterwald JC, Reynafarje GM, Kratz A. Automated cell counts on CSF samples: A multicenter performance evaluation of the GloCyte system. Int J Lab Hematol. 2018 Feb; 40(1):56-65. PMID: 28880455.
    Citations: 2     Fields:    Translation:HumansCellsCTClinical Trials
  36. Ilboudo Y, Bartolucci P, Rivera A, Sedzro JC, Beaudoin M, Trudel M, Alper SL, Brugnara C, Galactéros F, Lettre G. Genome-wide association study of erythrocyte density in sickle cell disease patients. Blood Cells Mol Dis. 2017 06; 65:60-65. PMID: 28552477.
    Citations: 4     Fields:    Translation:HumansCells
  37. Rivera A, Vandorpe DH, Shmukler BE, Gallagher DR, Fikry CC, Kuypers FA, Brugnara C, Snyder LM, Alper SL. 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. PMID: 28295477.
    Citations: 8     Fields:    Translation:HumansCells
  38. Canver MC, Lessard S, Pinello L, Wu Y, Ilboudo Y, Stern EN, Needleman AJ, Galactéros F, Brugnara C, Kutlar A, McKenzie C, Reid M, Chen DD, Das PP, A Cole M, Zeng J, Kurita R, Nakamura Y, Yuan GC, Lettre G, Bauer DE, Orkin SH. Variant-aware saturating mutagenesis using multiple Cas9 nucleases identifies regulatory elements at trait-associated loci. Nat Genet. 2017 Apr; 49(4):625-634. PMID: 28218758.
    Citations: 38     Fields:    Translation:HumansCells
  39. Hennek JW, Kumar AA, Wiltschko AB, Patton MR, Lee SY, Brugnara C, Adams RP, Whitesides GM. Diagnosis of iron deficiency anemia using density-based fractionation of red blood cells. Lab Chip. 2016 10 05; 16(20):3929-3939. PMID: 27713998.
    Citations: 1     Fields:    Translation:HumansCells
  40. Andolfo I, Russo R, Manna F, De Rosa G, Gambale A, Zouwail S, Detta N, Pardo CL, Alper SL, Brugnara C, Sharma AK, De Franceschi L, Iolascon A. Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia. Haematologica. 2016 08; 101(8):909-17. PMID: 27151991.
    Citations: 10     Fields:    Translation:HumansCells
  41. Brugnara C. The American Journal of Hematology turns 40. Am J Hematol. 2016 Jan; 91(1):4. PMID: 26575091.
    Citations:    Fields:    
  42. Giani FC, Fiorini C, Wakabayashi A, Ludwig LS, Salem RM, Jobaliya CD, Regan SN, Ulirsch JC, Liang G, Steinberg-Shemer O, Guo MH, Esko T, Tong W, Brugnara C, Hirschhorn JN, Weiss MJ, Zon LI, Chou ST, French DL, Musunuru K, Sankaran VG. 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. PMID: 26607381.
    Citations: 34     Fields:    Translation:HumansCells
  43. Tubman VN, Mejia P, Shmukler BE, Bei AK, Alper SL, Mitchell JR, Brugnara C, Duraisingh MT. The Clinically Tested Gardos Channel Inhibitor Senicapoc Exhibits Antimalarial Activity. Antimicrob Agents Chemother. 2016 01; 60(1):613-6. PMID: 26459896.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  44. Andolfo I, Russo R, Manna F, Shmukler BE, Gambale A, Vitiello G, De Rosa G, Brugnara C, Alper SL, Snyder LM, Iolascon A. Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis). Am J Hematol. 2015 Oct; 90(10):921-6. PMID: 26178367.
    Citations: 31     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
  45. Archer N, Galacteros F, Brugnara C. 2015 Clinical trials update in sickle cell anemia. Am J Hematol. 2015 Oct; 90(10):934-50. PMID: 26178236.
    Citations: 12     Fields:    Translation:HumansCells
  46. Archer NM, Brugnara C. Diagnosis of iron-deficient states. Crit Rev Clin Lab Sci. 2015; 52(5):256-72. PMID: 26292073.
    Citations: 13     Fields:    Translation:Humans
  47. Archer NM, Brugnara C. Diagnosis of iron-deficient states. Crit Rev Clin Lab Sci. 2015 Aug 14; 1-17. PMID: 26274917.
    Citations:    Fields:    
  48. Boscolo E, Limaye N, Huang L, Kang KT, Soblet J, Uebelhoer M, Mendola A, Natynki M, Seront E, Dupont S, Hammer J, Legrand C, Brugnara C, Eklund L, Vikkula M, Bischoff J, Boon LM. Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects. J Clin Invest. 2015 Sep; 125(9):3491-504. PMID: 26258417.
    Citations: 42     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
  49. Egan ES, Jiang RH, Moechtar MA, Barteneva NS, Weekes MP, Nobre LV, Gygi SP, Paulo JA, Frantzreb C, Tani Y, Takahashi J, Watanabe S, Goldberg J, Paul AS, Brugnara C, Root DE, Wiegand RC, Doench JG, Duraisingh MT. Malaria. A forward genetic screen identifies erythrocyte CD55 as essential for Plasmodium falciparum invasion. Science. 2015 May 08; 348(6235):711-4. PMID: 25954012.
    Citations: 40     Fields:    Translation:HumansAnimalsCells
  50. Kalish BT, Matte A, Andolfo I, Iolascon A, Weinberg O, Ghigo A, Cimino J, Siciliano A, Hirsch E, Federti E, Puder M, Brugnara C, De Franceschi L. Dietary ?-3 fatty acids protect against vasculopathy in a transgenic mouse model of sickle cell disease. Haematologica. 2015 Jul; 100(7):870-80. PMID: 25934765.
    Citations: 16     Fields:    Translation:HumansAnimalsCells
  51. Archer NM, Samnaliev M, Grace R, Brugnara C. The utility of the DDAVP challenge test in children with low von Willebrand factor. Br J Haematol. 2015 Sep; 170(6):884-6. PMID: 25733073.
    Citations: 2     Fields:    Translation:Humans
  52. Brugnara C. American Journal of Hematology, getting ready for the 40th birthday in 2016. Am J Hematol. 2015 Jan; 90(1):1. PMID: 25418109.
    Citations:    Fields:    
  53. Sharma S, Brugnara C, Betensky RA, Waikar SS. 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. PMID: 25538269.
    Citations: 4     Fields:    Translation:HumansCells
  54. Kumar AA, Chunda-Liyoka C, Hennek JW, Mantina H, Lee SY, Patton MR, Sambo P, Sinyangwe S, Kankasa C, Chintu C, Brugnara C, Stossel TP, Whitesides GM. Evaluation of a density-based rapid diagnostic test for sickle cell disease in a clinical setting in Zambia. PLoS One. 2014; 9(12):e114540. PMID: 25490722.
    Citations: 17     Fields:    Translation:HumansCells
  55. Kratz A, Brugnara C. Automated hematology analyzers: state of the art. Clin Lab Med. 2015 Mar; 35(1):xiii-xiv. PMID: 25676382.
    Citations:    Fields:    
  56. Piva E, Brugnara C, Spolaore F, Plebani M. Clinical utility of reticulocyte parameters. Clin Lab Med. 2015 Mar; 35(1):133-63. PMID: 25676377.
    Citations: 19     Fields:    Translation:HumansCells
  57. Bhaduri B, Kandel M, Brugnara C, Tangella K, Popescu G. Optical assay of erythrocyte function in banked blood. Sci Rep. 2014 Sep 05; 4:6211. PMID: 25189281.
    Citations: 9     Fields:    Translation:HumansCells
  58. Kumar AA, Patton MR, Hennek JW, Lee SY, D'Alesio-Spina G, Yang X, Kanter J, Shevkoplyas SS, Brugnara C, Whitesides GM. 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. PMID: 25197072.
    Citations: 24     Fields:    Translation:Humans
  59. Zhang X, Campreciós G, Rimmelé P, Liang R, Yalcin S, Mungamuri SK, Barminko J, D'Escamard V, Baron MH, Brugnara C, Papatsenko D, Rivella S, Ghaffari S. FOXO3-mTOR metabolic cooperation in the regulation of erythroid cell maturation and homeostasis. Am J Hematol. 2014 Oct; 89(10):954-63. PMID: 24966026.
    Citations: 29     Fields:    Translation:AnimalsCells
  60. Archer NM, Shmukler BE, Andolfo I, Vandorpe DH, Gnanasambandam R, Higgins JM, Rivera A, Fleming MD, Sachs F, Gottlieb PA, Iolascon A, Brugnara C, Alper SL, Nathan DG. Hereditary xerocytosis revisited. Am J Hematol. 2014 Dec; 89(12):1142-6. PMID: 25044010.
    Citations: 19     Fields:    Translation:HumansCells
  61. Rimmelé P, Bigarella CL, Liang R, Izac B, Dieguez-Gonzalez R, Barbet G, Donovan M, Brugnara C, Blander JM, Sinclair DA, Ghaffari S. 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. PMID: 25068121.
    Citations: 66     Fields:    Translation:AnimalsCells
  62. Darbari DS, Nouraie M, Taylor JG, Brugnara C, Castro O, Ballas SK. Alpha-thalassaemia and response to hydroxyurea in sickle cell anaemia. Eur J Haematol. 2014 Apr; 92(4):341-5. PMID: 24330217.
    Citations: 4     Fields:    Translation:Humans
  63. Shmukler BE, Vandorpe DH, Rivera A, Auerbach M, Brugnara C, Alper SL. 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. PMID: 23973043.
    Citations: 14     Fields:    Translation:HumansCells
  64. Franco SS, De Falco L, Ghaffari S, Brugnara C, Sinclair DA, Matte' A, Iolascon A, Mohandas N, Bertoldi M, An X, Siciliano A, Rimmelé P, Cappellini MD, Michan S, Zoratti E, Anne J, De Franceschi L. Resveratrol accelerates erythroid maturation by activation of FoxO3 and ameliorates anemia in beta-thalassemic mice. Haematologica. 2014 Feb; 99(2):267-75. PMID: 23975182.
    Citations: 32     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
  65. Brugnara C, Mohandas N. 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. PMID: 23449069.
    Citations: 19     Fields:    Translation:Humans
  66. Rivera A, Zee RY, Alper SL, Peters LL, Brugnara C. Strain-specific variations in cation content and transport in mouse erythrocytes. Physiol Genomics. 2013 May 01; 45(9):343-50. PMID: 23482811.
    Citations: 7     Fields:    Translation:HumansAnimalsCells
  67. Andolfo I, Alper SL, De Franceschi L, Auriemma C, Russo R, De Falco L, Vallefuoco F, Esposito MR, Vandorpe DH, Shmukler BE, Narayan R, Montanaro D, D'Armiento M, Vetro A, Limongelli I, Zuffardi O, Glader BE, Schrier SL, Brugnara C, Stewart GW, Delaunay J, Iolascon A. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood. 2013 May 09; 121(19):3925-35, S1-12. PMID: 23479567.
    Citations: 111     Fields:    Translation:HumansAnimalsCells
  68. Lim C, Hansen E, DeSimone TM, Moreno Y, Junker K, Bei A, Brugnara C, Buckee CO, Duraisingh MT. Expansion of host cellular niche can drive adaptation of a zoonotic malaria parasite to humans. Nat Commun. 2013; 4:1638. PMID: 23535659.
    Citations: 50     Fields:    Translation:HumansAnimalsCells
  69. Andolfo I, Alper SL, Delaunay J, Auriemma C, Russo R, Asci R, Esposito MR, Sharma AK, Shmukler BE, Brugnara C, De Franceschi L, Iolascon A. Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. Am J Hematol. 2013 Jan; 88(1):66-72. PMID: 23180570.
    Citations: 24     Fields:    Translation:HumansCells
  70. Wieschhaus A, Khan A, Zaidi A, Rogalin H, Hanada T, Liu F, De Franceschi L, Brugnara C, Rivera A, Chishti AH. Calpain-1 knockout reveals broad effects on erythrocyte deformability and physiology. Biochem J. 2012 Nov 15; 448(1):141-52. PMID: 22870887.
    Citations: 11     Fields:    Translation:AnimalsCells
  71. Brugnara C, Adamson J, Auerbach M, Kane R, Macdougall I, Mast A. Iron deficiency: what are the future trends in diagnostics and therapeutics? Clin Chem. 2013 May; 59(5):740-5. PMID: 23150055.
    Citations: 6     Fields:    Translation:Humans
  72. Shah DI, Takahashi-Makise N, Cooney JD, Li L, Schultz IJ, Pierce EL, Narla A, Seguin A, Hattangadi SM, Medlock AE, Langer NB, Dailey TA, Hurst SN, Faccenda D, Wiwczar JM, Heggers SK, Vogin G, Chen W, Chen C, Campagna DR, Brugnara C, Zhou Y, Ebert BL, Danial NN, Fleming MD, Ward DM, Campanella M, Dailey HA, Kaplan J, Paw BH. Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts. Nature. 2012 Nov 22; 491(7425):608-12. PMID: 23135403.
    Citations: 32     Fields:    Translation:HumansAnimalsCells
  73. De Franceschi L, Franco RS, Bertoldi M, Brugnara C, Matté A, Siciliano A, Wieschhaus AJ, Chishti AH, Joiner CH. 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. PMID: 23085996.
    Citations: 13     Fields:    Translation:HumansAnimalsCells
  74. Bartolucci P, Brugnara C, Teixeira-Pinto A, Pissard S, Moradkhani K, Jouault H, Galacteros F. Erythrocyte density in sickle cell syndromes is associated with specific clinical manifestations and hemolysis. Blood. 2012 Oct 11; 120(15):3136-41. PMID: 22919030.
    Citations: 29     Fields:    Translation:HumansCells
  75. Kheir JN, Scharp LA, Borden MA, Swanson EJ, Loxley A, Reese JH, Black KJ, Velazquez LA, Thomson LM, Walsh BK, Mullen KE, Graham DA, Lawlor MW, Brugnara C, Bell DC, McGowan FX. Oxygen gas-filled microparticles provide intravenous oxygen delivery. Sci Transl Med. 2012 Jun 27; 4(140):140ra88. PMID: 22745438.
    Citations: 22     Fields:    Translation:Animals
  76. Rifai N, Annesley TM, Berg JP, Brugnara C, Delvin E, Lamb EJ, Ness PM, Plebani M, Wick MR, Wu A, Delanghe J. 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. PMID: 22410758.
    Citations: 1     Fields:    
  77. Rifai N, Annesley TM, Berg JP, Brugnara C, Delvin E, Lamb EJ, Ness PM, Plebani M, Wick MR, Wu A. 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. PMID: 22452379.
    Citations:    Fields:    Translation:Humans
  78. Rifai N, Annesley TM, Berg JP, Brugnara C, Delvin E, Lamb EJ, Ness PM, Plebani M, Wick MR, Wu A, Delanghe J. 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. PMID: 22505546.
    Citations: 3     Fields:    Translation:Humans
  79. Rifai N, Annesley TM, Berg JP, Brugnara C, Delvin E, Lamb EJ, Ness PM, Plebani M, Wick MR, Wu A, Delanghe J. 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. PMID: 22339367.
    Citations:    Fields:    
  80. Rifai N, Annesley TM, Berg JP, Brugnara C, Delvin E, Lamb EJ, Ness PM, Plebani M, Wick MR, Wu A, Delanghe J. 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. PMID: 22296778.
    Citations:    Fields:    Translation:Humans
  81. Rifai N, Annesley TM, Berg JP, Brugnara C, Delvin E, Lamb EJ, Ness PM, Plebani M, Wick MR, Wu A. 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. PMID: 22297270.
    Citations:    Fields:    
  82. Rifai N, Annesley TM, Berg JP, Brugnara C, Delvin E, Lamb EJ, Ness PM, Plebani M, Wick MR, Wu A, Delanghe J. 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. PMID: 22302921.
    Citations: 1     Fields:    
  83. Rifai N, Annesley TM, Berg JP, Brugnara C, Delvin E, Lamb EJ, Ness PM, Plebani M, Wick MR, Wu A, Delanghe J. 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. PMID: 22261017.
    Citations:    Fields:    Translation:Humans
  84. Stewart AK, Shmukler BE, Vandorpe DH, Rivera A, Heneghan JF, Li X, Hsu A, Karpatkin M, O'Neill AF, Bauer DE, Heeney MM, John K, Kuypers FA, Gallagher PG, Lux SE, Brugnara C, Westhoff CM, Alper SL. Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S. . 2011 Dec; 301(6):C1325-43. PMID: 21849667.