Sankaran Laboratory



To see a list of all current publications, please click here.

2017

Kim AR, Ulirsch JC, Wilmes S, Unal E, Moraga I, Karakukcu M, Yuan D, Kazerounian S, Abdulhay NJ, King DS, Gupta N, Gabriel SB, Lander ES, Patiroglu T, Ozcan A, Ozdemir MA, Garcia KC, Piehler J, Gazda HT, Klein DE, Sankaran VG. Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. Cell. 2017 Mar 9.

Guo MH, Nandakumar SK, Ulirsch JC, Zekavat SM, Buenrostro JD, Natarajan P, Salem RM, Chiarle R, Mitt M, Kals M, Pärn K, Fischer K, Milani L, Mägi R, Palta P, Gabriel SB, Metspalu A, Lander ES, Kathiresan S, Hirschhorn JN, Esko T, Sankaran VG. Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms. Proceedings of the National Academy of Sciences of the United States of America. 2017 Jan 17.

Han X, Zhang J, Peng Y, Peng M, Chen X, Chen H, Song J, Hu X, Ye M, Li J, Sankaran VG, Hillyer CD, Mohandas N, An X, Liu J. Unexpected role for p19INK4d in posttranscriptional regulation of GATA1 and modulation of human terminal erythropoiesis. Blood. 2017 Jan 12.

2016

Ludwig LS, Khajuria RK, Sankaran VG. Emerging cellular and gene therapies for congenital anemias. American Journal of Medical Genetics Part C Seminars in Medical Genetics. 2016 Dec.

Narla A, Yuan D, Kazerounian S, LaVasseur C, Ulirsch JC, Narla J, Glader B, Sankaran VG, Gazda H. A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult. Blood Cells, Molecules, and Diseases. 2016 Oct.

Abdulhay N, Fiorini C, Kumánovics A, Sun AA, Hansen-Rejali J, Voelkerding KV, Rosenzweig SD, Hill HR, Sankaran VG. Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations. Blood. 2016 Oct 20.

Fukuda Y, Cheong PL, Lynch J, Brighton C, Frase S, Kargas V, Rampersaud E, Wang Y, Sankaran VG, Yu B, Ney PA, Weiss MJ, Vogel P, Bond PJ, Ford RC, Trent RJ, Schuetz JD. The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6. Nature Communications. 2016 Aug 10.

Polfus LM, Khajuria RK, Schick UM, Pankratz N, Pazoki R, Brody JA, Chen MH, Auer PL, Floyd JS, Huang J, Lange L, van Rooij FJA, Gibbs RA, Metcalf G, Muzny D, Veeraraghavan N, Walter K, Chen L, Yanek L, Becker LC, Peloso GM, Wakabayashi A, Kals M, Metspalu A, Esko T, Fox K, Wallace R, Franceshini N, Matijevic N, Rice KM, Bartz TM, Lyytikainen LK, Kahonen M, Lehtimaki T, Raitakari OT, Li-Gao R, DO Mook-Kanamori, Lettre G, van Duijn CM, Franco OH, Rich SS, Rivadeneira F, Hofman A, Uitterlinden AG, Wilson JG, Psaty BM, Soranzo N, Dehghan A, Boerwinkle E, Zhang X, Johnson AD, O’Donnell CJ, Johnsen JM, Reiner AP, Ganesh SK, Sankaran VG. Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. American Journal of Human Genetics. 2016 Aug 4.

Liddicoat BJ, Hartner JC, Piskol R, Ramaswami G, Chalk AM, Kingsley PD, Sankaran VG, Wall M, Purton LE, Seeburg PH, Palis J, Orkin SH, Lu J, Li JB, Walkley CR. Adenosine-to-inosine RNA editing by ADAR1 is essential for normal murine erythropoiesis. Experimental Hematology. 2016 Jul 1. [Epub ahead of print]

Kim AR, Sankaran VG. Development of autologous blood cell therapies. Experimental Hematology. 2016 Jun 21. [Epub ahead of print]

Capellera-Garcia S, Pulecio J, Dhulipala K, Siva K, Rayon-Estrada V, Singbrant S, Sommarin MN, Walkley CR, Soneji S, Karlsson G, Raya Á, Sankaran VG, Flygare J. Defining the Minimal Factors Required for Erythropoiesis through Direct Lineage Conversion. Cell Reports. 2016 Jun 14.

Ulirsch JC, Nandakumar SK, Wang L, Giani FC, Zhang X, Rogov P, Melnikov A, McDonel P, Do R, Mikkelsen TS, Sankaran VG. Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits. Cell. 2016 Jun 2.

Wakabayashi A, Ulirsch JC, Ludwig LS, Fiorini C, Yasuda M, Choudhuri A, McDonel P, Zon LI, Sankaran VG. Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders. Proceedings of the National Academy of Sciences of the United States of America. 2016 Apr 19.

Lacy JN, Ulirsch JC, Grace RF, Towne MC, Hale J, Mohandas N, Lux SE, Agrawal PJ, Sankaran VG. Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia. Molecular Case Studies. 2016 Mar 15. [Epub ahead of print]

Basak A, Sankaran VG. Regulation of the fetal hemoglobin silencing factor BCL11A. Annals of the New York Academy of Sciences. 2016 Mar 9. [Epub ahead of print]

Joshi M, Anselm I, Shi J, Bale TA, Towne M, Schmitz-Abe K, Crowley L, Giani FC, Kazerounian S, Markianos K, Lidov HG, Folkerth R, Sankaran VG, Agrawal PB. Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-alpha protein (PMPCA) cause a severe mitochondrial disease. Molecular Case Studies. 2016 Feb 9. [Epub ahead of print]

Nandakumar SK, Ulirsch JC, Sankaran VG. Advances in understanding erythropoiesis: evolving perspectives. British Journal of Haematology. 2016 Feb 5. [Epub ahead of print]

2015

Sabath DE, Bender MA, Sankaran VG, Vamos E, Kentsis A, Yi HS, Greisman HA. Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization. The Journal of Molecular Diagnostics. 2015 Nov 20. [Epub ahead of print]

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. 2015 Oct 20. [Epub ahead of print]

Wakabayashi A, Sankaran VG. Society for Pediatric Research 2015 Young Investigator Award: Genetics of human hematopoiesis - What patients can teach us about blood cell production. Pediatric Research. 2015 Nov 17. [Epub ahead of print]

Noh JY, Gandre-Babbe S, Wang Y, Hayes V, Yao Y, Gadue P, Sullivan SK, Chou ST, Machlus KR, Italiano JE Jr, Kyba M, Finkelstein D, Ulirsch JC, Sankaran VG, French DL, Poncz M, Weiss MJ. Inducible Gata1 suppression expands megakaryocyte-erythroid progenitors from embryonic stem cells. Journal of Clinical Investigation. 2015 Jun;125(6):2369-74.

Basak A, Hancarova M, Ulirsch JC, Balci TB, Trkova M, Pelisek M, Vlckova M, Muzikova K, Cermak J, Trka J, Dyment DA, Orkin SH, Daly MJ, Sedlacek Z, Sankaran VG. BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. Journal of Clinical Investigation. 2015 Jun;125(6):2363-8.

Sankaran VG, Weiss MJ. Anemia: progress in molecular mechanisms and therapies. Nature Medicine. 2015 Mar;21(3):221-30.

Sankaran VG, Ulirsch JC, Tchaikovskii V, Ludwig LS, Wakabayashi A, Kadirvel S, Lindsley RC, Bejar R, Shi J, Lovitch SB, Bishop DF, Steensma DP. X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation. Journal of Clinical Investigation. 2015 Apr 1;125(4):1665-9.

Ludwig LS, Cho H, Wakabayashi A, Eng JC, Ulirsch JC, Fleming MD, Lodish HF, Sankaran VG. Genome-wide association study follow-up identifies cyclin A2 as a regulator of the transition through cytokinesis during terminal erythropoiesis. American Journal of Hematology. 2015 May;90(5):386-91.

2014

Ulirsch JC, Lacy JN, An X, Mohandas N, Mikkelsen TS, Sankaran VG. Altered Chromatin Occupancy of Master Regulators Underlies Evolutionary Divergence in the Transcriptional Landscape of Erythroid Differentiation. PLoS Genetics. Dec 18 2014;10(12):e1004890.

Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, Lodish HF, Lander ES, Sankaran VG. Altered translation of GATA1 in Diamond-Blackfan anemia. Nature Medicine. Jul 2014;20(7):748-53.

Pishesha N, Thiru P, Shi J, Eng JC, Sankaran VG, Lodish HF. Transcriptional divergence and conservation of human and mouse erythropoiesis. Proceedings of the National Academy of Sciences of the United States of America. Mar 18 2014;111(11):4103-8.

2013

Sankaran VG, Orkin SH. The switch from fetal to adult hemoglobin. Cold Spring Harbor perspectives in medicine. Jan 2013;3(1):a011643.

Sankaran VG, Orkin SH. Genome-wide association studies of hematologic phenotypes: a window into human hematopoiesis. Current opinion in genetics & development. Jun 2013;23(3):339-344.

Sankaran VG, Joshi M, Agrawal A, et al. Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus. Blood. Nov 28 2013;122(23):3845-3847.

Sankaran VG, Gallagher PG. Applications of high-throughput DNA sequencing to benign hematology. Blood. Nov 21 2013;122(22):3575-3582.

Sankaran VG, Agrawal PB. Stimulating erythropoiesis in neonates. American journal of hematology. Nov 2013;88(11):930-931.

Musallam KM, Taher AT, Cappellini MD, Sankaran VG. Clinical experience with fetal hemoglobin induction therapy in patients with beta-thalassemia. Blood. Mar 21 2013;121(12):2199-2212; quiz 2372.

2012

Zhang L, Sankaran VG, Lodish HF. MicroRNAs in erythroid and megakaryocytic differentiation and megakaryocyte-erythroid progenitor lineage commitment. Leukemia. Nov 2012;26(11):2310-2316.

Sankaran VG, Sapp MV. Persistence of fetal hemoglobin expression in an older child with trisomy 13. The Journal of pediatrics. Feb 2012;160(2):352.

Sankaran VG, Ludwig LS, Sicinska E, et al. Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number. Genes & development. Sep 15 2012;26(18):2075-2087.

Sankaran VG, Ghazvinian R, Do R, et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. The Journal of clinical investigation. Jul 2 2012;122(7):2439-2443.

Musallam KM, Sankaran VG, Cappellini MD, Duca L, Nathan DG, Taher AT. Fetal hemoglobin levels and morbidity in untransfused patients with beta-thalassemia intermedia. Blood. Jan 12 2012;119(2):364-367.

2011

Xu J, Peng C, Sankaran VG, et al. Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. Science (New York, N.Y.). Nov 18 2011;334(6058):993-996.

Wilber A, Hargrove PW, Kim YS, et al. Therapeutic levels of fetal hemoglobin in erythroid progeny of beta-thalassemic CD34+ cells after lentiviral vector-mediated gene transfer. Blood. Mar 10 2011;117(10):2817-2826.

Singbrant S, Russell MR, Jovic T, et al. Erythropoietin couples erythropoiesis, B-lymphopoiesis, and bone homeostasis within the bone marrow microenvironment. Blood. May 26 2011;117(21):5631-5642.

Sankaran VG, Xu J, Byron R, et al. A functional element necessary for fetal hemoglobin silencing. The New England journal of medicine. Sep 1 2011;365(9):807-814.

Sankaran VG, Menne TF, Scepanovic D, et al. MicroRNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13. Proceedings of the National Academy of Sciences of the United States of America. Jan 25 2011;108(4):1519-1524.

Sankaran VG, Menne J, Heller R. Heterozygous disruption of human SOX6 is insufficient to impair erythropoiesis or silencing of fetal hemoglobin. Blood. Apr 21 2011;117(16):4396-4397.

Sankaran VG. Targeted therapeutic strategies for fetal hemoglobin induction. Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program. 2011;2011:459-465.

2010

Xu J, Sankaran VG, Ni M, et al. Transcriptional silencing of Gamma-globin by BCL11A involves long-range interactions and cooperation with SOX6. Genes & development. Apr 15 2010;24(8):783-798.

Sankaran VG, Xu J, Orkin SH. Advances in the understanding of haemoglobin switching. British journal of haematology. Apr 2010;149(2):181-194.

Sankaran VG, Xu J, Orkin SH. Transcriptional silencing of fetal hemoglobin by BCL11A. Annals of the New York Academy of Sciences. Aug 2010;1202:64-68.

Sankaran VG, Nathan DG. Thalassemia: an overview of 50 years of clinical research. Hematology/oncology clinics of North America. Dec 2010;24(6):1005-1020.

Sankaran VG, Nathan DG. Reversing the hemoglobin switch. The New England journal of medicine. Dec 2 2010;363(23):2258-2260.

Sankaran VG, Lettre G, Orkin SH, Hirschhorn JN. Modifier genes in Mendelian disorders: the example of hemoglobin disorders. Annals of the New York Academy of Sciences. Dec 2010;1214:47-56.

Sankaran VG. Hemoglobin disorders in the developing world: a perspective from Sri Lanka. American journal of hematology. Sep 2010;85(9):732.

Galarneau G, Palmer CD, Sankaran VG, Orkin SH, Hirschhorn JN, Lettre G. Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nature genetics. Dec 2010;42(12):1049-1051.

2009

Sankaran VG, Xu J, Ragoczy T, et al. Developmental and species-divergent globin switching are driven by BCL11A. Nature. Aug 27 2009;460(7259):1093-1097.

2008

Walkley CR, Sankaran VG, Orkin SH. Rb and hematopoiesis: stem cells to anemia. Cell division. 2008;3:13.

Walkley CR, Qudsi R, Sankaran VG, et al. Conditional mouse osteosarcoma, dependent on p53 loss and potentiated by loss of Rb, mimics the human disease. Genes & development. Jun 15 2008;22(12):1662-1676.

Uda M, Galanello R, Sanna S, et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proceedings of the National Academy of Sciences of the United States of America. Feb 5 2008;105(5):1620-1625.

Sankaran VG, Orkin SH, Walkley CR. Rb intrinsically promotes erythropoiesis by coupling cell cycle exit with mitochondrial biogenesis. Genes & development. Feb 15 2008;22(4):463-475.

Sankaran VG, Menne TF, Xu J, et al. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science (New York, N.Y.). Dec 19 2008;322(5909):1839-1842.

Lettre G, Sankaran VG, Bezerra MA, et al. DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proceedings of the National Academy of Sciences of the United States of America. Aug 19 2008;105(33):11869-11874.

Pre-2008

Sankaran VG, Klein DE, Sachdeva MM, Lemmon MA. High-affinity binding of a FYVE domain to phosphatidylinositol 3-phosphate requires intact phospholipid but not FYVE domain oligomerization. Biochemistry. Jul 24 2001;40(29):8581-8587.

Ferguson KM, Kavran JM, Sankaran VG, et al. Structural basis for discrimination of 3-phosphoinositides by pleckstrin homology domains. Molecular cell. Aug 2000;6(2):373-384.