Structural Medicine and Thrombosis

PublicationTitleAuthors
Proc. Natl. Acad. Sci. USA. 108: 15169-15173 (2011).Insights into Krabbe Disease from Structures of Galactocerebrosidase.Deane, J.E., Graham, S.C., Kim, N.N., Stein, P.E., McNair, R., Cachón-González, M.B., Cox, T.M. and Read, R.J.
J. Biol. Chem. 286: 30606-14.Structural and functional studies on the N-terminal domain of the Shigella Type III Secretion protein MxiG.McDowell, M.A. Johnson, S., Deane, J.E., Cheung, M., Roehrich, D., Blocker, A.J., McDonnell, J.M. and Lea, S.M. (2011).
EMBO Rep., 12(10):1011-7.Molecular basis of α1-antitrypsin deficiency revealed by the structure of a domain-swapped trimer.Masayuki Yamasaki , Timothy J. Sendall, Mary C. Pearce, James C. Whisstock, James A. Huntington, (2011).
Structure 19: 1395-1412 (2011).A new generation of crystallographic validation tools for the Protein Data Bank.Read, R.J., Adams, P.D., Arendall, W. Bryan III, Brunger, A.T., Emsley, P., Joosten, R.P., Kleywegt., G.J., Krissinel, E.B., Lütteke, T., Otwinowski, Z., Perrakis, A., Richardson, J.S., Sheffler, W.H., Smith, J.L., Tickle, I.J., Vriend, G. and Zwart, P.H.
Nature 473: 540-543 (2011).Improving molecular replacement by density- and energy-guided protein structure optimization.DiMaio, F., Terwilliger, T.C., Read, R.J., Wlodawer, A., Oberdorfer, G., Wagner, U., Valkov, E., Alon, A., Fass, D., Axelrod, H.L., Das, D., Vorobiev, S.M., Iwaï, H., Pokkuluri, P.R. and Baker, D.
Proc. Natl. Acad. Sci. USA, 107(32):14087-92.NMR resonance assignments of thrombin reveal the conformational and dynamic effects of ligation.Benhard Lechtenberg, Daniel J.D. Johnson, Stefan Freund and James A. Huntington, (2010).
Proc. Natl. Acad. Sci. USA, 107(2):645-50.Molecular basis of factor IXa recognition by heparin-activated antithrombin revealed by a 1.7Å structure of the ternary complex.Daniel J.D. Johnson, Jonathan Langdown and James A. Huntington, (2010).
Nature 468: 108-111 (2010).A redox switch in angiotensinogen modulates angiotensin release.Zhou, A., Carrell, R.W., Murphy, M.P., Wei, Z., Yan, Y., Stanley, P.L.D., Stein, P.E., Broughton Pipkin, F. and Read, R.J.
Acta Cryst. D66: 213-221 (2010).PHENIX: a comprehensive Python-based system for macromolecular structure solution.Adams, P.D., Afonine, P.V., Bunkóczi, G., Chen, V.B., Davis, I.W., Echols, N., Headd, J.J., Hung, L.-W., Kapral, G.J., Grosse-Kunstleve, R.W., McCoy, A.J., Moriarty, N.W., Oeffner, R., Read, R.J., Richardson, D.C., Richardson, J.S., Terwilliger, T.C. and Zwart, P.H.
Nature 458: 890-3.Neisseria meningitidis recruits factor H using protein mimicry of host carbohydrates.Schneider, M.C., Prosser, B.E., Caesar, J.J., Kugelberg, E., Li, S., Zhang, Q., Quoraishi, S., Lovett, J.E., Deane, J.E., Sim, R.B., Roversi, P., Johnson, S., Tang, C.M. and Lea, S.M. (2009).
Mol. Micro. 69: 267-76.Crystal structure of Spa40, the specificity switch for the Shigella flexneri type III secretion system.Deane, J.E., Graham, S.C., Mitchell, E.P., Flot, D., Johnson, S. and Lea S.M. (2008).
Nature. 455(7217):1255-8.Crystal structure of a stable dimer reveals the molecular basis of serpin polymerization.Masayuki Yamasaki, Wei Li, Daniel J.D. Johnson and James A. Huntington, (2008).

 

Haematopoiesis and Leukaemia

PublicationTitleAuthors
Nature Cell Biology 15: 363-372Characterisation of transcriptional networks in blood stem and progenitor cells using high-throughput single cell gene expression analysisMoignard V., Macaulay I.C., Swiers G., Buettner F., Schütte J., Calero-Nieto F.J., Kinston S., Joshi A., Hannah R., Theis F.J., Jacobsen S.E., de Bruijn M.F.T, Göttgens B. (2013)
Nature Methods 10(10): 926Building an ENCODE style data compendium on a shoestringRuau D., Ng F.S.L., Wilson N.K., Hannah R., Diamanti E., Lombard P., Woodhouse S., Göttgens B. (2013)
Blood. 2012 Nov 27.Aberrant 3’ oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.Hilcenko C, Simpson PJ, Finch AJ, Bowler FR, Churcher MJ, Jin L, Packman LC, Shlien A, Campbell P, Kirwan M, Dokal I, Warren AJ.
Blood Cancer J. 2012 Oct 12; 2:e94.Mesenchymal stem cells from Shwachman-Diamond syndrome patients display normal functions and do not contribute to hematological defects.André V, Longoni D, Bresolin S, Cappuzzello C, Dander E, Galbiati M, Bugarin C, Di Meglio A, Nicolis E, Maserati E, Serafini M, Warren AJ, Te Kronnie G, Cazzaniga G, Sainati L, Cipolli M, Biondi A, D'Amico G.
Blood (2012) Jun 7;119(23):5391-6.Prospective study of rabbit antithymocyte globulin and ciclosporin for aplastic anemia from the EBMT Severe Aplastic Anemia Working Party.Marsh JC, Bacigalupo A, Schrezenmeier H, Tichelli A, Risitano AM, Passweg JR, Killick SB, Warren AJ, Foukaneli T, Aljurf M, Al-Zahrani HA, Schafhausen P, Roth A, Franzke A, Brummendorf TH, Dufour C, Oneto R, Sedgwick P, Barrois A, Kordasti S, Elebute MO, Mufti GJ, and Socie G, on behalf of the European Blood and Marrow Transplant (EBMT) Group Severe Aplastic Anaemia (SAA) Working Party.
Nature. 2011 Mar 24;471(7339):467-72.Initial genome sequencing and analysis of multiple myeloma.Chapman MA, Lawrence MS, Keats JJ, Cibulskis K, Sougnez C, Schinzel AC, Harview CL, Brunet JP, Ahmann GJ, Adli M, Anderson KC, Ardlie KG, Auclair D, Baker A, Bergsagel PL, Bernstein BE, Drier Y, Fonseca R, Gabriel SB, Hofmeister CC, Jagannath S, Jakubowiak AJ, Krishnan A, Levy J, Liefeld T, Lonial S, Mahan S, Mfuko B, Monti S, Perkins LM, Onofrio R, Pugh TJ, Rajkumar SV, Ramos AH, Siegel DS, Sivachenko A, Stewart AK, Trudel S, Vij R, Voet D, Winckler W, Zimmerman T, Carpten J, Trent J, Hahn WC, Garraway LA, Meyerson M, Lander ES, Getz G, Golub TR.
Haematologica, 96(2): 190-198.The role of meis1 in primitive and definitive haematopoiesis during zebrafish development.Cvejic A, Serbanovic-Canic J, Stemple DL, Ouwehand WH (2011).
Nature Cell Biology 13: 13-21.LIF independent JAK signalling to chromatin in embryonic stem cells uncovered from an adult stem cell disease.Griffiths D.S., Li J., Dawson M.A., Trotter M., Cheng Y.-H., Smith A.M., Mansfield W., Liu P., Kouzarides T., Nichols J., Bannister A.J., Green A.R., Göttgens B. (2011)
Nature. 2011 478(7370):529-33.Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia.Dawson MA, Prinjha RK, Dittmann A, Giotopoulos G, Bantscheff M, Chan WI, Robson SC, Chung CW, Hopf C, Savitski MM, Huthmacher C, Gudgin E, Lugo D, Beinke S, Chapman TD, Roberts EJ, Soden PE, Auger KR, Mirguet O, Doehner K, Delwel R, Burnett AK, Jeffrey P, Drewes G, Lee K, Huntly BJ*, Kouzarides T* (*joint senior authors).
Blood. 2011 Aug 11;118(6):1610-21. Epub 2011 Jun 8.Increased basal intracellular signaling patterns do not correlate with JAK2 genotype in human myeloproliferative neoplasms.Anand S, Stedham FE, Beer PA, Gudgin E, Bench AJ, Green AR, Huntly BJP.
Blood. 2011; 118(4):1041-51. Epub 2011 May 31.Modeling the evolution of ETV6-RUNX1-induced B-cell precursor acute lymphoblastic leukemia in mice.van der Weyden L, Giotopolous G, Rust AG, Matheson L, van Delft F, Kong J, Corcoran A, Huntly BJ*, Adams DJ* (*joint senior authors).
Blood. 118(1):177-81. Epub 2011 May 11.Effects of the JAK2 mutation on the hematopoietic stem and progenitor compartment in human myeloproliferative neoplasms.Anand S, Stedham FE, Gudgin E, Beer PA, Bench AJ, Erber W, Green AR, Huntly BJP.
Blood 117:5088-91.CD41 is developmentally regulated and differentially expressed on mouse hematopoietic stem cells.Robin C.*, Ottersbach, K.*, Boisset J.-C., Oziemlak A. and Dzierzak E. (2011) * equal contribution.
Plenary Paper, Blood (2011) 118(16):4305-4312.Defective ribosome assembly in Shwachman-Diamond syndrome.Wong CC, Traynor D, Basse N, Kay RR, Warren AJ.
Mol Cell Biol. 2010 Dec;30(24):5741-51. Epub 2010 Oct 18.cis-Regulatory remodeling of the SCL locus during vertebrate evolution.Göttgens B, Ferreira R, Sanchez MJ, Ishibashi S, Li J, Spensberger D, Lefevre P, Ottersbach K, Chapman M, Kinston S, Knezevic K, Hoogenkamp M, Follows GA, Bonifer C, Amaya E, Green AR.
Cell Stem Cell 7(4):532-544.Combinatorial Transcriptional Control in Blood Stem/Progenitor Cells: Genome-wide Analysis of 10 major Transcriptional Regulators.Wilson N.K., Foster S.D., Wang X., Knezevic K., Schütte J., Kaimakis P., Chilarska P., Kinston S., Ouwehand W.H., Dzierzak E., Pimanda J.E., de Bruijn M.F., Göttgens B. (2010)
Blood, 115(14): 2891-2900, 2010.Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm.Beer PA, Delhommeau F, LeCouédic JP, Dawson MA, Chen E, Bareford D, Kušec R, McMullin MF, Harrison CN, Vannucchi AM, Vainchenker W, Green AR.
Cancer Cell, 18(5): 524-535, 2010.Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling.Chen E, Beer PA, Godfrey AL, Ortmann CA, Li J, Costa-Pereira AP, Ingle CE, Dermitzakis ET, Campbell PJ, and Green AR.
Blood, 116: 1528-1538, 2010.JAK2 V617F impairs hematopoietic stem cell function in a conditional knock-in mouse model of JAK2 V617F-positive essential thrombocythaemia.Li J, Spensberger D, Ahn JS, Anand S, Beer PA, Ghevaert C, Forrai A, Chen E, Ferreira R, Campbell P, Watson S. Bradly A, Liu P, Erber W, Huntly BJP, Ottersbach K. and Green AR.
Developmental Cell 17: 568–579 * joint senior authors.Motif-blind, genome-wide discovery of cis-regulatory modules in Drosophila and mouse.Kantorovitz M.R., Kazemian M., Kinston S., Miranda-Saavedra D., Zhu Q., Robinson G.E., Göttgens B.*, Halfon M.S.*, Sinha S.* (2009)
Nature, 461(7265): 819-822, 2009.JAK2 phosphorylates histone H3Y41 and excludes HP1a from chromatin.Dawson MA†, Bannister AJ†, Gottgens B, Foster SD, Bartke T, Green AR*, Kouzarides T* (*joint senior authors; †joint first author).
Blood 114:4645-53.Identification of novel regulators of hematopoietic stem cell development through refinement of stem cell localization and expression profiling.Mascarenhas M.I., Parker A., Dzierzak E. & Ottersbach K. (2009)
Development 136:2613-21.Hedgehog from ventral embryonic tissue induces early AGM hematopoietic stem cell development.Peeters M., Ottersbach K., Bollerot K., Orelio C., de Bruijn M., Wijgerde M.& Dzierzak E. (2009).
Blood 111(6): 3005-3014.Runx genes are direct targets of Scl/Tal1 in the yolk sac and fetal liver.Landry J.R., Kinston S., Knezevic K., de Bruijn M.F.T.R., Wilson N., Nottingham W.T., Peitz M., Edenhofer F., Pimanda J.E., Ottersbach K., Göttgens B. (2008)
Blood 112:4512-22.Endoglin expression in blood and endothelium is differentially regulated by modular assembly of the Ets/Gata hemangioblast code.Pimanda J.E., Chan W.Y., Wilson N.K., Smith A.M., Kinston S., Knezevic K., Janes M.E., Landry J.R., Kolb-Kokocinski A., Frampton J., Tannahill D., Ottersbach K., Follows G.A., Lacaud G., Kouskoff V., Göttgens B. (2008).

 

Transfusion Medicine

PublicationTitleAuthors
American Journal of Human Genetics. 2012 Oct 10. PubMed PMID: 23063622.Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci.Asselbergs FW, Guo Y, van Iperen EP, Sivapalaratnam S, Tragante V, Lanktree MB, Lange LA, Almoguera B, Appelman YE, Barnard J, Baumert J, Beitelshees AL, Bhangale TR, Chen YD, Gaunt TR, Gong Y, Hopewell JC, Johnson T, Kleber ME, Langaee TY, Li M, Li YR, Liu K, McDonough CW, Meijs MF, Middelberg RP, Musunuru K, Nelson CP, O'Connell JR, Padmanabhan S, Pankow JS, Pankratz N, Rafelt S, Rajagopalan R, Romaine SP, Schork NJ, Shaffer J, Shen H, Smith EN, Tischfield SE, van der Most PJ, van Vliet-Ostaptchouk JV, Verweij N, Volcik KA, Zhang L, Bailey KR, Bailey KM, Bauer F, Boer JM, Braund PS, Burt A, Burton PR, Buxbaum SG, Chen W, Cooper-Dehoff RM, Cupples LA, Dejong JS, Delles C, Duggan D, Fornage M, Furlong CE, Glazer N, Gums JG, Hastie C, Holmes MV, Illig T, Kirkland SA, Kivimaki M, Klein R, Klein BE, Kooperberg C, Kottke-Marchant K, Kumari M, Lacroix AZ, Mallela L, Murugesan G, Ordovas J, Ouwehand WH, Post WS, Saxena R, Scharnagl H, Schreiner PJ, Shah T, Shields DC, Shimbo D, Srinivasan SR, Stolk RP, Swerdlow DI, Taylor HA, Jr., Topol EJ, Toskala E, van Pelt JL, van Setten J, Yusuf S, Whittaker JC, Zwinderman AH, LifeLines Cohort S, Anand SS, Balmforth AJ, Berenson GS, Bezzina CR, Boehm BO, Boerwinkle E, Casas JP, Caulfield MJ, Clarke R, Connell JM, Cruickshanks KJ, Davidson KW, Day IN, de Bakker PI, Doevendans PA, Dominiczak AF, Hall AS, Hartman CA, Hengstenberg C, Hillege HL, Hofker MH, Humphries SE, Jarvik GP, Johnson JA, Kaess BM, Kathiresan S, Koenig W, Lawlor DA, Marz W, Melander O, Mitchell BD, Montgomery GW, Munroe PB, Murray SS, Newhouse SJ, Onland-Moret NC, Poulter N, Psaty B, Redline S, Rich SS, Rotter JI, Schunkert H, Sever P, Shuldiner AR, Silverstein RL, Stanton A, Thorand B, Trip MD, Tsai MY, van der Harst P, van der Schoot E, van der Schouw YT, Verschuren WM, Watkins H, Wilde AA, Wolffenbuttel BH, Whitfield JB, Hovingh GK, Ballantyne CM, Wijmenga C, Reilly MP, Martin NG, Wilson JG, Rader DJ, Samani NJ, Reiner AP, Hegele RA, Kastelein JJ, Hingorani AD, Talmud PJ, Hakonarson H, Elbers CC, Keating BJ, Drenos F.
Blood. 2012 Dec 6;120(24):4859-68. PubMed PMID: 22972982.A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site.Nürnberg ST, Rendon A, Smethurst PA, Paul DS, Voss K, Thon JN, Lloyd-Jones H, Sambrook JG, Tijssen MR, Italiano JE Jr, Deloukas P, Gottgens B, Soranzo N, Ouwehand WH.
Nat Genet. 2012 Feb 26;44(4):435-9, S1-2.Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, Jolley JD, Cvejic A, Kostadima M, Bertone P, Breuning MH, Debili N, Deloukas P, Favier R, Fiedler J, Hobbs CM, Huang N, Hurles ME, Kiddle G, Krapels I, Nurden P, Ruivenkamp CA, Sambrook JG, Smith K, Stemple DL, Strauss G, Thys C, van Geet C, Newbury-Ecob R, Ouwehand WH, Ghevaert C.
PLoS One. 2012;7(2):e32166.Monocyte gene expression signature of patients with early onset coronary artery disease.Sivapalaratnam S, Basart H, Watkins NA, Maiwald S, Rendon A, Krishnan U, Sondermeijer BM, Creemers EE, Pinto-Sietsma SJ, Hovingh K, Ouwehand WH, Kastelein JJ, Goodall AH, Trip MD.
Biol Blood Marrow Transplant. 2012 Jan;18(1 Suppl):S151-60.Applications of next-generation sequencing to blood and marrow transplantation.Chapman M, Warren EH 3rd, Wu CJ.
Nature genetics. 2012 Dec 2. PubMed PMID: 23202125.Large-scale association analysis identifies new risk loci for coronary artery disease.The CDC, Deloukas P, Kanoni S, Willenborg C, Farrall M, Assimes TL, Thompson JR, Ingelsson E, Saleheen D, Erdmann J, Goldstein BA, Stirrups K, Konig IR, Cazier JB, Johansson A, Hall AS, Lee JY, Willer CJ, Chambers JC, Esko T, Folkersen L, Goel A, Grundberg E, Havulinna AS, Ho WK, Hopewell JC, Eriksson N, Kleber ME, Kristiansson K, Lundmark P, Lyytikainen LP, Rafelt S, Shungin D, Strawbridge RJ, Thorleifsson G, Tikkanen E, Van Zuydam N, Voight BF, Waite LL, Zhang W, Ziegler A, Absher D, Altshuler D, Balmforth AJ, Barroso I, Braund PS, Burgdorf C, Claudi-Boehm S, Cox D, Dimitriou M, Do R, Consortium D, Consortium C, Doney AS, Mokhtari NE, Eriksson P, Fischer K, Fontanillas P, Franco-Cereceda A, Gigante B, Groop L, Gustafsson S, Hager J, Hallmans G, Han BG, Hunt SE, Kang HM, Illig T, Kessler T, Knowles JW, Kolovou G, Kuusisto J, Langenberg C, Langford C, Leander K, Lokki ML, Lundmark A, McCarthy MI, Meisinger C, Melander O, Mihailov E, Maouche S, Morris AD, Muller-Nurasyid M, Mu TC, Nikus K, Peden JF, Rayner NW, Rasheed A, Rosinger S, Rubin D, Rumpf MP, Schafer A, Sivananthan M, Song C, Stewart AF, Tan ST, Thorgeirsson G, Schoot CE, Wagner PJ, Wellcome Trust Case Control C, Wells GA, Wild PS, Yang TP, Amouyel P, Arveiler D, Basart H, Boehnke M, Boerwinkle E, Brambilla P, Cambien F, Cupples AL, de Faire U, Dehghan A, Diemert P, Epstein SE, Evans A, Ferrario MM, Ferrieres J, Gauguier D, Go AS, Goodall AH, Gudnason V, Hazen SL, Holm H, Iribarren C, Jang Y, Kahonen M, Kee F, Kim HS, Klopp N, Koenig W, Kratzer W, Kuulasmaa K, Laakso M, Laaksonen R, Lee JY, Lind L, Ouwehand WH, Parish S, Park JE, Pedersen NL, Peters A, Quertermous T, Rader DJ, Salomaa V, Schadt E, Shah SH, Sinisalo J, Stark K, Stefansson K, Tregouet DA, Virtamo J, Wallentin L, Wareham N, Zimmermann ME, Nieminen MS, Hengstenberg C, Sandhu MS, Pastinen T, Syvanen AC, Hovingh GK, Dedoussis G, Franks PW, Lehtimaki T, Metspalu A, Zalloua PA, Siegbahn A, Schreiber S, Ripatti S, Blankenberg SS, Perola M, Clarke R, Boehm BO, O'Donnell C, Reilly MP, Marz W, Collins R, Kathiresan S, Hamsten A, Kooner JS, Thorsteinsdottir U, Danesh J, Palmer CN, Roberts R, Watkins H, Schunkert H, Samani NJ.
Nature. 2012 Dec 5. PubMed PMID: 23222517.Seventy-five genetic loci influencing the human red blood cell.van der Harst P, Zhang W, Mateo Leach I, Rendon A, Verweij N, Sehmi J, Paul DS, Elling U, Allayee H, Li X, Radhakrishnan A, Tan ST, Voss K, Weichenberger CX, Albers CA, Al-Hussani A, Asselbergs FW, Ciullo M, Danjou F, Dina C, Esko T, Evans DM, Franke L, Gogele M, Hartiala J, Hersch M, Holm H, Hottenga JJ, Kanoni S, Kleber ME, Lagou V, Langenberg C, Lopez LM, Lyytikainen LP, Melander O, Murgia F, Nolte IM, O'Reilly PF, Padmanabhan S, Parsa A, Pirastu N, Porcu E, Portas L, Prokopenko I, Ried JS, Shin SY, Tang CS, Teumer A, Traglia M, Ulivi S, Westra HJ, Yang J, Hua Zhao J, Anni F, Abdellaoui A, Attwood A, Balkau B, Bandinelli S, Bastardot F, Benyamin B, Boehm BO, Cookson WO, Das D, de Bakker PI, de Boer RA, de Geus EJ, de Moor MH, Dimitriou M, Domingues FS, Doring A, Engstrom G, Ingi Eyjolfsson G, Ferrucci L, Fischer K, Galanello R, Garner SF, Genser B, Gibson QD, Girotto G, Fannar Gudbjartsson D, Harris SE, Hartikainen AL, Hastie CE, Hedblad B, Illig T, Jolley J, Kahonen M, Kema IP, Kemp JP, Liang L, Lloyd-Jones H, Loos RJ, Meacham S, Medland SE, Meisinger C, Memari Y, Mihailov E, Miller K, Moffatt MF, Nauck M, Novatchkova M, Nutile T, Olafsson I, Onundarson PT, Parracciani D, Penninx BW, Perseu L, Piga A, Pistis G, Pouta A, Puc U, Raitakari O, Ring SM, Robino A, Ruggiero D, Ruokonen A, Saint-Pierre A, Sala C, Salumets A, Sambrook J, Schepers H, Oliver Schmidt C, Sillje HH, Sladek R, Smit JH, Starr JM, Stephens J, Sulem P, Tanaka T, Thorsteinsdottir U, Tragante V, van Gilst WH, Joost van Pelt L, van Veldhuisen DJ, Volker U, Whitfield JB, Willemsen G, Winkelmann BR, Wirnsberger G, Algra A, Cucca F, d'Adamo AP, Danesh J, Deary IJ, Dominiczak AF, Elliott P, Fortina P, Froguel P, Gasparini P, Greinacher A, Hazen SL, Jarvelin MR, Tee Khaw K, Lehtimaki T, Maerz W, Martin NG, Metspalu A, Mitchell BD, Montgomery GW, Moore C, Navis G, Pirastu M, Pramstaller PP, Ramirez-Solis R, Schadt E, Scott J, Shuldiner AR, Davey Smith G, Gustav Smith J, Snieder H, Sorice R, Spector TD, Stefansson K, Stumvoll M, Wilson Tang WH, Toniolo D, Tonjes A, Visscher PM, Vollenweider P, Wareham NJ, Wolffenbuttel BH, Boomsma DI, Beckmann JS, Dedoussis GV, Deloukas P, Ferreira MA, Sanna S, Uda M, Hicks AA, Martin Penninger J, Gieger C, Kooner JS, Ouwehand WH, Soranzo N, Chambers JC.
Nat Genet. 2011 Jul 17;43(8):735-7.Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, Read RJ, Sipos B, Sivapalaratnam S, Smethurst PA, Stephens J, Voss K, Nurden A, Rendon A, Nurden P, Ouwehand WH.
Nature, 480(7376):201-8.New gene functions in megakaryopoiesis and platelet formation.Gieger C*, Radhakrishnan A*, Cvejic A*, Tang W*, Porcu E*, Pistis G*, Serbanovic-Canic J* …….. Sanna S, Hicks AA, Rendon A, Ferreira MA, Ouwehand WH, Soranzo N (2011). (*joint first authors)
Developmental Cell, 20(5):597-609.Genome-Wide Analysis of Simultaneous GATA1/2, RUNX1, FLI1, and SCL Binding in Megakaryocytes Identifies Hematopoietic Regulators.Tijssen MR*, Cvejic A*, Hannah RL, Ferreira R, Forrai A, Bellissimo DC, Joshi A, Wilson NK, Wang X, Ottersbach K, Stemple DL, Green AR, Ouwehand WH, Göttgens B (2011). (*joint first authors)
Blood, 118(18):4967-76.Silencing of RhoA nucleotide exchange factor, ARHGEF3 reveals its unexpected role in iron uptake.Serbanovic-Canic J*, Cvejic A*, Soranzo N, Stemple DL, Ouwehand WH, Freson K (2011). (*joint first authors)
Blood. 2011 May 12;117(19):5198-206.Dasatinib enhances megakaryocyte differentiation but inhibits platelet formation.Mazharian A, Ghevaert C, Zhang L, Massberg S, Watson SP.
J Thromb Haemost. 2010 Jan;8(1):17-26.The mitogen-activated protein kinase signaling pathways: role in megakaryocyte differentiation. J Thromb Haemost. 2010 Jan;8(1):17-26.Severin S, Ghevaert C, Mazharian A.
Blood, 114, 1405-1416.A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways.Jones CI, Bray S, Garner SF, Stephens J, de Bono B, Angenent WG, Bentley D, Burns P, Coffey A, Deloukas P, Earthrowl M, Farndale RW, Hoylaerts MF, Koch K, Rankin A, Rice CM, Rogers J, Samani NJ, Steward M, Walker A, Watkins NA, Akkerman JW, Dudbridge F, Goodall AH & Ouwehand WH (2009)
The Journal of Clinical Investigation. 2008 Aug;118(8):2929-38.Developing recombinant HPA-1a-specific antibodies with abrogated Fcgamma receptor binding for the treatment of fetomaternal alloimmune thrombocytopenia.Ghevaert C, Wilcox DA, Fang J, Armour KL, Clark MR, Ouwehand WH, et al.
Blood. 2008 Apr 1;111(7):3407-14.A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.Ghevaert C, Salsmann A, Watkins NA, Schaffner-Reckinger E, Rankin A, Garner SF, Stephens J, Smith GA, Debili N, Vainchenker W, de Groot PG, Huntington JA, Laffan M, Kieffer N & Ouwehand WH (2008).