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Items: 1 to 50 of 73

1.

A chance to cut (the genome) is a chance to cure.

Montbleau KE, Sankaran VG.

Blood. 2018 Apr 26;131(17):1884-1885. doi: 10.1182/blood-2018-03-839787. No abstract available.

2.

Functional Assays to Screen and Dissect Genomic Hits: Doubling Down on the National Investment in Genomic Research.

Musunuru K, Bernstein D, Cole FS, Khokha MK, Lee FS, Lin S, McDonald TV, Moskowitz IP, Quertermous T, Sankaran VG, Schwartz DA, Silverman EK, Zhou X, Hasan AAK, Luo XJ.

Circ Genom Precis Med. 2018 Apr;11(4):e002178. doi: 10.1161/CIRCGEN.118.002178. Review.

PMID:
29654098
3.

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.

Raffield LM, Ulirsch JC, Naik RP, Lessard S, Handsaker RE, Jain D, Kang HM, Pankratz N, Auer PL, Bao EL, Smith JD, Lange LA, Lange EM, Li Y, Thornton TA, Young BA, Abecasis GR, Laurie CC, Nickerson DA, McCarroll SA, Correa A, Wilson JG; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Hematology & Hemostasis, Diabetes, and Structural Variation TOPMed Working Groups, Lettre G, Sankaran VG, Reiner AP.

PLoS Genet. 2018 Mar 28;14(3):e1007293. doi: 10.1371/journal.pgen.1007293. eCollection 2018 Mar.

4.

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis.

Khajuria RK, Munschauer M, Ulirsch JC, Fiorini C, Ludwig LS, McFarland SK, Abdulhay NJ, Specht H, Keshishian H, Mani DR, Jovanovic M, Ellis SR, Fulco CP, Engreitz JM, Schütz S, Lian J, Gripp KW, Weinberg OK, Pinkus GS, Gehrke L, Regev A, Lander ES, Gazda HT, Lee WY, Panse VG, Carr SA, Sankaran VG.

Cell. 2018 Mar 22;173(1):90-103.e19. doi: 10.1016/j.cell.2018.02.036. Epub 2018 Mar 15.

PMID:
29551269
5.

Ribonuclease inhibitor 1 regulates erythropoiesis by controlling GATA1 translation.

Chennupati V, Veiga DF, Maslowski KM, Andina N, Tardivel A, Yu EC, Stilinovic M, Simillion C, Duchosal MA, Quadroni M, Roberts I, Sankaran VG, MacDonald HR, Fasel N, Angelillo-Scherrer A, Schneider P, Hoang T, Allam R.

J Clin Invest. 2018 Apr 2;128(4):1597-1614. doi: 10.1172/JCI94956. Epub 2018 Mar 19.

6.

Thrombopoietin: tickling the HSC's fancy.

Kim AR, Sankaran VG.

EMBO Mol Med. 2018 Jan;10(1):10-12. doi: 10.15252/emmm.201708450. No abstract available.

7.

Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia.

Steinberg-Shemer O, Ulirsch JC, Noy-Lotan S, Krasnov T, Attias D, Dgany O, Laor R, Sankaran VG, Tamary H.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a001941. doi: 10.1101/mcs.a001941. Print 2017 Nov.

8.

Confounding in ex vivo models of Diamond-Blackfan anemia.

Ulirsch JC, Lareau C, Ludwig LS, Mohandas N, Nathan DG, Sankaran VG.

Blood. 2017 Aug 31;130(9):1165-1168. doi: 10.1182/blood-2017-05-783191. Epub 2017 Jun 14. No abstract available.

PMID:
28615220
9.

Developmentally-faithful and effective human erythropoiesis in immunodeficient and Kit mutant mice.

Fiorini C, Abdulhay NJ, McFarland SK, Munschauer M, Ulirsch JC, Chiarle R, Sankaran VG.

Am J Hematol. 2017 Sep;92(9):E513-E519. doi: 10.1002/ajh.24805. Epub 2017 Jul 19.

PMID:
28568895
10.

Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation.

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.

Cell. 2017 Mar 9;168(6):1053-1064.e15. doi: 10.1016/j.cell.2017.02.026.

11.

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms.

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.

Proc Natl Acad Sci U S A. 2017 Jan 17;114(3):E327-E336. doi: 10.1073/pnas.1619052114. Epub 2016 Dec 28.

12.

Unexpected role for p19INK4d in posttranscriptional regulation of GATA1 and modulation of human terminal erythropoiesis.

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.

Blood. 2017 Jan 12;129(2):226-237. doi: 10.1182/blood-2016-09-739268. Epub 2016 Nov 22.

13.

Emerging cellular and gene therapies for congenital anemias.

Ludwig LS, Khajuria RK, Sankaran VG.

Am J Med Genet C Semin Med Genet. 2016 Dec;172(4):332-348. doi: 10.1002/ajmg.c.31529. Epub 2016 Oct 28. Review.

14.

A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult.

Narla A, Yuan D, Kazerounian S, LaVasseur C, Ulirsch JC, Narla J, Glader B, Sankaran VG, Gazda H.

Blood Cells Mol Dis. 2016 Oct;61:46-7. doi: 10.1016/j.bcmd.2016.08.001. Epub 2016 Aug 17. No abstract available.

PMID:
27667165
15.

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.

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, Franceschini N, Matijevic N, Rice KM, Bartz TM, Lyytikäinen LP, Kähönen M, Lehtimäki T, Raitakari OT, Li-Gao R, Mook-Kanamori DO, 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.

Am J Hum Genet. 2016 Sep 1;99(3):785. doi: 10.1016/j.ajhg.2016.08.002. Epub 2016 Sep 1. No abstract available.

16.

Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations.

Abdulhay N, Fiorini C, Kumánovics A, Sun AA, Hansen-Rejali J, Voelkerding KV, Rosenzweig SD, Hill HR, Sankaran VG.

Blood. 2016 Oct 20;128(16):2100-2103. doi: 10.1182/blood-2016-08-731943. Epub 2016 Aug 31. No abstract available.

17.

Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia.

Lacy JN, Ulirsch JC, Grace RF, Towne MC, Hale J, Mohandas N, Lux SE 4th, Agrawal PB, Sankaran VG.

Cold Spring Harb Mol Case Stud. 2016 Jul;2(4):a000885. doi: 10.1101/mcs.a000885.

18.

The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.

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.

Nat Commun. 2016 Aug 10;7:12353. doi: 10.1038/ncomms12353.

19.

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.

Polfus LM, Khajuria RK, Schick UM, Pankratz N, Pazoki R, Brody JA, Chen MH, Auer PL, Floyd JS, Huang J, Lange L, van Rooij FJ, 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, Franceschini N, Matijevic N, Rice KM, Bartz TM, Lyytikäinen LP, Kähönen M, Lehtimäki T, Raitakari OT, Li-Gao R, Mook-Kanamori DO, 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.

Am J Hum Genet. 2016 Aug 4;99(2):481-8. doi: 10.1016/j.ajhg.2016.06.016. Erratum in: Am J Hum Genet. 2016 Sep 1;99(3):785.

20.

Adenosine-to-inosine RNA editing by ADAR1 is essential for normal murine erythropoiesis.

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.

Exp Hematol. 2016 Oct;44(10):947-63. doi: 10.1016/j.exphem.2016.06.250. Epub 2016 Jul 1.

21.

Development of autologous blood cell therapies.

Kim AR, Sankaran VG.

Exp Hematol. 2016 Oct;44(10):887-94. doi: 10.1016/j.exphem.2016.06.005. Epub 2016 Jun 21. Review.

22.

Defining the Minimal Factors Required for Erythropoiesis through Direct Lineage Conversion.

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.

Cell Rep. 2016 Jun 14;15(11):2550-62. doi: 10.1016/j.celrep.2016.05.027. Epub 2016 Jun 2.

23.

Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits.

Ulirsch JC, Nandakumar SK, Wang L, Giani FC, Zhang X, Rogov P, Melnikov A, McDonel P, Do R, Mikkelsen TS, Sankaran VG.

Cell. 2016 Jun 2;165(6):1530-1545. doi: 10.1016/j.cell.2016.04.048.

24.

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.

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.

Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000786. doi: 10.1101/mcs.a000786.

25.

Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders.

Wakabayashi A, Ulirsch JC, Ludwig LS, Fiorini C, Yasuda M, Choudhuri A, McDonel P, Zon LI, Sankaran VG.

Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):4434-9. doi: 10.1073/pnas.1521754113. Epub 2016 Apr 4.

26.

Regulation of the fetal hemoglobin silencing factor BCL11A.

Basak A, Sankaran VG.

Ann N Y Acad Sci. 2016 Mar;1368(1):25-30. doi: 10.1111/nyas.13024. Epub 2016 Mar 9. Review.

27.

Advances in understanding erythropoiesis: evolving perspectives.

Nandakumar SK, Ulirsch JC, Sankaran VG.

Br J Haematol. 2016 Apr;173(2):206-18. doi: 10.1111/bjh.13938. Epub 2016 Feb 5. Review.

28.

Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization.

Sabath DE, Bender MA, Sankaran VG, Vamos E, Kentsis A, Yi HS, Greisman HA.

J Mol Diagn. 2016 Jan;18(1):92-9. doi: 10.1016/j.jmoldx.2015.07.011. Epub 2015 Nov 21.

29.

Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells.

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.

Cell Stem Cell. 2016 Jan 7;18(1):73-78. doi: 10.1016/j.stem.2015.09.015. Epub 2015 Oct 22.

30.

Society for Pediatric Research 2015 Young Investigator Award: genetics of human hematopoiesis-what patients can teach us about blood cell production.

Wakabayashi A, Sankaran VG.

Pediatr Res. 2016 Mar;79(3):366-70. doi: 10.1038/pr.2015.245. Epub 2015 Nov 17. Review.

PMID:
26575596
31.

Inducible Gata1 suppression expands megakaryocyte-erythroid progenitors from embryonic stem cells.

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.

J Clin Invest. 2015 Jun;125(6):2369-74. doi: 10.1172/JCI77670. Epub 2015 May 11.

32.

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.

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.

J Clin Invest. 2015 Jun;125(6):2363-8. doi: 10.1172/JCI81163. Epub 2015 May 4.

33.

Anemia: progress in molecular mechanisms and therapies.

Sankaran VG, Weiss MJ.

Nat Med. 2015 Mar;21(3):221-30. doi: 10.1038/nm.3814. Review.

34.

X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation.

Sankaran VG, Ulirsch JC, Tchaikovskii V, Ludwig LS, Wakabayashi A, Kadirvel S, Lindsley RC, Bejar R, Shi J, Lovitch SB, Bishop DF, Steensma DP.

J Clin Invest. 2015 Apr;125(4):1665-9. doi: 10.1172/JCI78619. Epub 2015 Feb 23.

35.

Genome-wide association study follow-up identifies cyclin A2 as a regulator of the transition through cytokinesis during terminal erythropoiesis.

Ludwig LS, Cho H, Wakabayashi A, Eng JC, Ulirsch JC, Fleming MD, Lodish HF, Sankaran VG.

Am J Hematol. 2015 May;90(5):386-91. doi: 10.1002/ajh.23952. Epub 2015 Feb 5.

36.

Altered chromatin occupancy of master regulators underlies evolutionary divergence in the transcriptional landscape of erythroid differentiation.

Ulirsch JC, Lacy JN, An X, Mohandas N, Mikkelsen TS, Sankaran VG.

PLoS Genet. 2014 Dec 18;10(12):e1004890. doi: 10.1371/journal.pgen.1004890. eCollection 2014 Dec.

37.

Altered translation of GATA1 in Diamond-Blackfan anemia.

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.

Nat Med. 2014 Jul;20(7):748-53. doi: 10.1038/nm.3557. Epub 2014 Jun 22.

38.

Transcriptional divergence and conservation of human and mouse erythropoiesis.

Pishesha N, Thiru P, Shi J, Eng JC, Sankaran VG, Lodish HF.

Proc Natl Acad Sci U S A. 2014 Mar 18;111(11):4103-8. doi: 10.1073/pnas.1401598111. Epub 2014 Mar 3.

39.

Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus.

Sankaran VG, Joshi M, Agrawal A, Schmitz-Abe K, Towne MC, Marinakis N, Markianos K, Berry GT, Agrawal PB.

Blood. 2013 Nov 28;122(23):3845-7. doi: 10.1182/blood-2013-09-528315. No abstract available.

40.

Applications of high-throughput DNA sequencing to benign hematology.

Sankaran VG, Gallagher PG.

Blood. 2013 Nov 21;122(22):3575-82. doi: 10.1182/blood-2013-07-460337. Epub 2013 Sep 10. Review.

41.

Stimulating erythropoiesis in neonates.

Sankaran VG, Agrawal PB.

Am J Hematol. 2013 Nov;88(11):930-1. doi: 10.1002/ajh.23573. Epub 2013 Sep 19. No abstract available.

42.

Genome-wide association studies of hematologic phenotypes: a window into human hematopoiesis.

Sankaran VG, Orkin SH.

Curr Opin Genet Dev. 2013 Jun;23(3):339-44. doi: 10.1016/j.gde.2013.02.006. Epub 2013 Mar 7. Review.

43.

Clinical experience with fetal hemoglobin induction therapy in patients with β-thalassemia.

Musallam KM, Taher AT, Cappellini MD, Sankaran VG.

Blood. 2013 Mar 21;121(12):2199-212; quiz 2372. doi: 10.1182/blood-2012-10-408021. Epub 2013 Jan 11. Review.

44.

The switch from fetal to adult hemoglobin.

Sankaran VG, Orkin SH.

Cold Spring Harb Perspect Med. 2013 Jan 1;3(1):a011643. doi: 10.1101/cshperspect.a011643.

45.

Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number.

Sankaran VG, Ludwig LS, Sicinska E, Xu J, Bauer DE, Eng JC, Patterson HC, Metcalf RA, Natkunam Y, Orkin SH, Sicinski P, Lander ES, Lodish HF.

Genes Dev. 2012 Sep 15;26(18):2075-87. doi: 10.1101/gad.197020.112. Epub 2012 Aug 28.

46.

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

Sankaran VG, Ghazvinian R, Do R, Thiru P, Vergilio JA, Beggs AH, Sieff CA, Orkin SH, Nathan DG, Lander ES, Gazda HT.

J Clin Invest. 2012 Jul;122(7):2439-43. doi: 10.1172/JCI63597. Epub 2012 Jun 18.

47.

MicroRNAs in erythroid and megakaryocytic differentiation and megakaryocyte-erythroid progenitor lineage commitment.

Zhang L, Sankaran VG, Lodish HF.

Leukemia. 2012 Nov;26(11):2310-6. doi: 10.1038/leu.2012.137. Epub 2012 May 23. Review.

48.

Targeted therapeutic strategies for fetal hemoglobin induction.

Sankaran VG.

Hematology Am Soc Hematol Educ Program. 2011;2011:459-65. doi: 10.1182/asheducation-2011.1.459. Review.

PMID:
22160074
49.

Fetal hemoglobin levels and morbidity in untransfused patients with β-thalassemia intermedia.

Musallam KM, Sankaran VG, Cappellini MD, Duca L, Nathan DG, Taher AT.

Blood. 2012 Jan 12;119(2):364-7. doi: 10.1182/blood-2011-09-382408. Epub 2011 Nov 17.

50.

Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing.

Xu J, Peng C, Sankaran VG, Shao Z, Esrick EB, Chong BG, Ippolito GC, Fujiwara Y, Ebert BL, Tucker PW, Orkin SH.

Science. 2011 Nov 18;334(6058):993-6. doi: 10.1126/science.1211053. Epub 2011 Oct 13.

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