Center of
              Research Translation in Scleroderma
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Publications from the Centers of Research Translation in Scleroderma

  1. Tan F, Stivers DN, Chakraborty R, Foster MW, Howard RF, Milewicz DM, Arnett FC: Association of microsatellite markers near the fibrillin 1 gene on human chromosome 15q with scleroderma in a Native American population. Arthritis Rheum. 1998, 41:1729-1737  PubMed

  2. Tan F, Stivers DN, Arnett FC, Chakraborty R, Howard RF, Reveille JD: HLA haplotypes and microsatellite polymorphisms in and around the MHC region in a Native American population with a high prevalence of scleroderma (systemic sclerosis). Tissue Antigens 1999, 53:74-80  Publication

  3. Tan FK, Arnett FC, Stephan S, Sinichiro S, Mirachi A, Speira H, Takeshi S, Shoichi O, LeRoy C, Postlethwaite AE, Bona C: Autoantibodies to the extra-cellular matrix microfibrillar protein, fibrillin-1 in patients with scleroderma and other connective tissue diseases. J Immunol 1999, 163: 1066-1072  Publication

  4. Arnett FC, Tan FK, Uziel Y, Krafchik BR, Laxer RM, Antohi S, Bona CA: Autoantibodies to the extracellular matrix microfibrillar protein, fibrillin-1 in patients with localized scleroderma. Arthritis Rheum 1999, 42:2656-2659  PubMed
     
  5. Tan FK, Arnett FC. Genetic factors in the etiology of systemic sclerosis and Raynaud phenomenon. Curr Opin Rheumatol. 2000 12:511-9 Publication

  6. Zhou X, Tan FK, Stivers DN, Arnett FC: Microsatellites and intragenic polymorphisms of transforming growth factor beta and platelet derived growth factor and their receptor genes in Native Americans with systemic sclerosis (scleroderma): a preliminary genetic analysis showing no genetic association. Arthritis Rheum 2000, 43: 1068-1073  PubMed

  7. Tan FK, Arnett, FC, Reveille JD, Ahn, C, Antohi, S, Kasturi, K., Sasaki, T, Nishioka, Bona CA: Autoantibodies to fibrillin-1 in systemic sclerosis: ethnic differences in antigen recognition and lack of correlation with specific clincal features or HLA alleles. Arthritis Rheum 2000, 43: 2464-24  PubMed

  8. Tan FK, Wang N, Kuwana M, Chakraborty R, Bona C, Milewicz D, Arnett FC: Association of fibrillin-1 single nucleotide polymorphisms (SNP) haplotypes with systemic sclerosis in Native American and Japanese populations. Arthritis Rheum 2001, 44: 893-901  PubMed

  9. Guo D, Tan FK, Cantu A, Plon SE, Milewicz: FBN1 exon 2 splicing error in a patient with Marfan syndrome. Am J Med Genet 2001, 101: 130-134  Publication

  10. Wallis DD, Tan FK, Kielty CM, Arnett FC, Milewicz DM: Abnormalities in fibrillin-1 containing microfibrils in dermal fibroblasts cultures from patients with systemic sclerosis (scleroderma). Arthritis Rheum 2001, 44:1855-1864  PubMed

  11. Tew MB, Reveille JD, Arnett FC, Friedman AW, McNearney T, Fischbach M, Ahn C, Tan FK: Glutathione-S-transferase genotypes in systemic sclerosis. Genes Immunity 2001, 2:236-238  Publication

  12. Johnson RW, Reveille, JD, McNearney T., Fischbach M., Friedman AF, Ahn C, Arnett FC, Tan FK: Lack of association of a functionally relevant single nucleotide polymorphism in the metalloproteinase 1 promoter with systemic sclerosis, Genes Immunity 2001, 2:273-275  Publication

  13. Zhou XD, Tan FK, Xiong M, Milewicz DM, Feghali C, Fritzler M, Arnett FC: Systemic Sclerosis (Scleroderma) - specific autoantigen genes are selectively over-expressed in scleroderma fibroblasts, J Immunol 2001, 167:7126-7133  Publication

  14. Arnett FC, Cho M, Chatterjee S, Aguilar MB, Reveille JD, Mayes MD. Familial occurrence frequencies and relative risks for systemic sclerosis (scleroderma) in three United States cohorts. Arthritis Rheum. 2001 44:1359-1362 PubMed

  15. Reveille JD, Fischbach M, McNearney T, Friedman AW, Aguilar MB, Lisse J, Fritzler MJ, Ahn C, Arnett FC; GENISOS Study Group. Systemic sclerosis in 3 US ethnic groups: a comparison of clinical, sociodemographic, serologic, and immunogenetic determinants. Semin Arthritis Rheum. 2001 30:332-46 Publication

  16. Denton CP, Zheng B, Shiwen X, Zhang Z, Bou-Gharios G, Eberspaecher H, Black CM, de Crombrugghe B. Activation of a fibroblast-specific enhancer of the proalpha2(I) collagen gene in tight-skin mice. Arthritis Rheum. 2001 44:712-22 PubMed

  17.  Tew MB, Arnett FC, Reveille JD, Tan FK: Mutations of the bone morphogenetic protein receptor 2 (BMPR2) are not found in patients with pulmonary hypertension and underlying connective tissue disease. Arthritis Rheum 2002, 46:2829-2830 Publication

  18. Zhou XD, Tan FK, Reveille JD, Wallis D, Milewicz DM, Ahn C, Wang A, Arnett FC: Association of novel polymorphims with the expression of SPARC in normal fibroblasts and with susceptibility to scleroderma.. Arthritis Rheum 2002, 46: 2990-2999  Publication

  19. Kodera T, Tan FK, Sasaki T, Arnett FC, Bona CA. Association of 5'-untranslated region of the Fibrillin-1 gene with Japanese scleroderma. Gene 2002; 297:61-67  Publication

  20. Johnson RW, Tew MB, Arnett FC. The genetics of systemic sclerosis. Curr Rheumatol Rep. 2002 4:99-107 PubMed

  21. Ahmed SS, Tan FK, Arnett FC. The complex genetics of scleroderma. Am J Med. 2002 112:584-586 Publication

  22. Arnett FC: Systemic sclerosis (scleroderma), in Molecular Pathology of Autoimmunity, 2nd Edition. Edited by AN Theofilopoulos and CA Bona, Taylor and Francis, New York, 2002, pp 453-469.

  23. Zhou X, Tan FK, Wang, Chakraborty R, Arnett FC:Genome-wide association study for systemic sclerosis susceptibility regions in a Native American population with a high disease prevalence. Arthritis Rheum 2003, 48: 2585-2592  Publication

  24. Tan FK, Tercero G, Wang N, Chakraborty R, Arnett FC. Association of fibrillin-1 single nucleotide polymorphisms (SNP) haplotypes with systemic sclerosis in Native American and Japanese populations: Examination of biologically relevant candidates around FBN1, Arthritis Rheum, 2003 48:3295-3296  Publication

  25. Reveille JD. Ethnicity and race and systemic sclerosis: how it affects susceptibility, severity, antibody genetics, and clinical manifestations.  Curr Rheumatol Rep. 2003 ;5:160-167 PubMed

  26. Ho KT, Reveille JD. The clinical relevance of autoantibodies in scleroderma. Arthritis Res Ther. 2003 5:80-93. Epub 2003 Feb 12  Publication

  27. Tan FK. Systemic sclerosis: the susceptible host (genetics and environment). Rheum Dis Clin North Am. 2003 29:211-37 PubMed

  28. Mayes MD. Scleroderma epidemiology. Rheum Dis Clin North Am. 2003 29:239-254 PubMed

  29. Mayes MD. Endothelin and endothelin receptor antagonists in systemic rheumatic disease. Arthritis Rheum. 2003 48:1190-9 Publication

  30. Mayes MD, Lacey JV Jr, Beebe-Dimmer J, Gillespie BW, Cooper B, Laing TJ, Schottenfeld D. Prevalence, incidence, survival, and disease characteristics of systemic sclerosis in a large US population. Arthritis Rheum. 2003 48 :2246-55 Publication

  31. Reveille JD, Solomon DH; American College of Rheumatology Ad Hoc Committee of Immunologic Testing Guidelines. Evidence-based guidelines for the use of immunologic tests: anticentromere, Scl-70, and nucleolar antibodies. Arthritis Rheum. 2003 49:399-412   Publication

  32. Ahmed SS, Tan FK. Identification of novel targets in scleroderma: update of population studies, cDNA arrays, SNP analysis, and mutations. Curr Opin Rheumatol. 2003 15:766-71 Publication

  33. Planque S, Zhou Y, Nishiyama Y, Sinha M, O’Connor-McCourt M, Arnett F, Paul S: Autoantibodies to the epidermal growth factor receptor in systemic sclerosis, lupus and autoimmune mice. FASEBJ 2003 17: 136-143, 2003 Publication

  34. Mayes MD, O'Donnell D, Rothfield NF, Csuka ME. Minocycline is not effective in systemic sclerosis: results of an open-label multicenter trial. Arthritis Rheum. 2004 50:553-557 Publication

  35. Wang N, Zhou X, Tan FK, Foster MW, Arnett FC, Chakraborty R: Genetic signatures of pre-expansion bottleneck in the Choctaw population of Oklahoma. Am J Phys Anthropol 2004, 124:373-379  Publication

  36. Wallis DD, Tan FK, Keasler R, Milewicz DM. Fibrillin-1 abnormalities in dermal fibroblast cultures from first degree relatives of patients with systemic sclerosis (Scleroderma). Arthritis Rheum 2004, 50:329-332 Publication 

  37. Cepeda EJ, Reveille JD. Autoantibodies in systemic sclerosis and fibrosing syndromes: clinical indications and relevance. Curr Opin Rheumatol. 2004 16:723-32  Publication

  38. Arnett FC, Reveille JD, O’Hanlon TP. HLA-DRB1 alleles in a Caucasian population from Houston USA. Hum Immunol 2004 65:1238-1241  Publication

  39. Zhou X, Dimachkie MM, Xiong M, Tan FK, Arnett FC: cDNA microarrays reveal distinct gene expression clusters in idiopathic inflammatory myopathies. Med Sci Monit 2004 10: BR191-BR197  Publication

  40. Zhou X, Tan FK, Guo X, Wallis D, Milewicz DM, Xue S, Arnett FC. Short interfering RNA inhibition of SPARC attenuates the profibrotic effect of transforming growth factor b1 in cultured normal human fibroblasts. Arthritis Rheum 2005 52:257-261 Publication

  41. Basu D, Reveille JD. Anti-Scl70. Autoimmunity 2005,  38:65-72 PubMed

  42. Tan FK, Hildebrand BA, Lester M, Stivers DN, Pounds S, Zhou X, Wallis DD, Milewicz DM, Reveille JD, Mayes MD, Jin L, Arnett FC. Classification analysis of the transcriptosome of non-lesional cultured dermal fibroblasts from scleroderma patients with early disease. Arthritis Rheum 2005, 52:865-876  Publication  Supplemental data

  43. Assasi S, Reveille JD, Arnett FC, Mayes MD, McNearny T, Fischbach M, Tan FK. Polymorphisms of the endothelial nitric oxide synthase and angiotensin-converting enzyme show no association with systemic sclerosis. Am J Med  2005, 118: 907-911 Publication

  44. Zhou X, Tan FK, Wallis D, Bona C, Milewicz DM, Arnett F: Autoantibodies to fibrillin-1 activate normal human fibroblasts in culture through the TGF beta pathway and recapitulate the “scleroderma phenotype” J Immunol, 2005, 175:4555-4560 Publication

  45. Xiong M, Arnett FC, Feghali-Bostwick CA, Zhou X. A systems biology approach to complex diseases. FEBS Lett, 2005, 579:5325-5332 Publication

  46. Zhou XD, Tan FK, Xiong M, Arnett FC, Feghali-Bostwick C. Clinically discordant scleroderma monozygotic twins show concordance for fibroblast gene expression profiles. Arthritis Rheum, 2005, 52:3305-3314  Publication  Supplemental data

  47. Assassi S, Tan FK. Genetics of scleroderma: update on SNP analysis and microarrays. Current Opin Rheumatol, 2005, 17:761-767 Publication

  48. Tan FK, Zhou X, Mayes MD, Gourh P, Guo X, Marcum C, Jin L, Arnett FC. Signatures of differentially regulated interferon gene expression and vasculotropism in the peripheral blood cells of systemic sclerosis patients. Rheumatology (Oxford),  2006, 45: 694-702  Publication Supplemental data

  49. Gardner H, Shearstone J, Bandaru R, Crowell T, Lynes M, Trojanowska M,  Pannu J, Kubo M, Smith E, Jablonlska S, Blaszczyk, Tan FK, Mayes MD.  Gene profiling of scleroderma skin reveals robust signatures of disease which are imperfectly reflected in the transcript profiles of explanted fibroblasts. Arthritis Rheum  2006, 43:1961-1973 Publication

  50. Tan, F. K.  Autoantibodies against PDGF Receptor in Scleroderma.  N Engl J Med 2006, 354: 2709-2711 Publication

  51. Tashkin DP, Elashoff R, Clements PJ, Goldin J, Roth MD, Furst DE, Arriola E, Silver R, Strange C, Bolster M, Seibold JR, Riley DJ, Hsu VM, Varga J, Schraufnagel DE, Theodore A, Simms R, Wise R, Wigley F, White B, Steen V, Read C, Mayes M, Parsley E, Mubarak K, Connolly MK, Golden J, Olman M, Fessler B, Rothfield N, Metersky M; Scleroderma Lung Study Research Group. Cyclophosphamide versus placebo in scleroderma lung disease. N Engl J Med, 2006 354:2655-2666 PubMed

  52. Ahmed SS, Tan FK, Arnett FC, Jin L, Geng YJ. Induction of apoptosis and fibrillin 1 expression in human dermal endothelial cells by scleroderma sera containing anti-endothelial cell antibodies. Arthritis Rheum, 2006 54:2250-2262 Publication

  53. Zhou X, Tan FK, Guo X, Arnett FC. Attenuation of collagen production with small interfering RNA of SPARC in cultured fibroblasts form the skin of patients with scleroderma. Arthritis Rheum, 2006 54:2626-2631 Publication

  54. Arnett, FC.  Is scleroderma an autoantibody mediated disease? Curr Opin Rhematol, 2006 18: 579-581 Publication

  55. Zhou XD, Xiong M, Tan FK, Guo XJ, Arnett FC. SPARC, an upstream regulator of connective tissue growth factor to transforming growth factor beta stimulation. Arthritis Rheum, 2006 54:3885-3889 Publication

  56. Gourh P, Tan FK,  Assassi S,  Ahn CW. McNearney TA, Fischbach M,  Arnett FC, Mayes MD.  Association of the PTPN22 R620W polymorphism with topoisomerase I and centromere autoantibody positive systemic sclerosis. Arthritis Rheum 2006, 54:3945-2953 Publication

  57. Sonnylal S, Denton CP, Zheng B, Keene DR, He R, Adams HP, Vanpelt CS, Geng YJ,Deng JM, Behringer RR,de Crombrugghe B. Postnatal induction of transforming growth factor beta signaling in fibroblasts of mice recapitulates clinical, histologic, and biochemical features of scleroderma. Arthritis Rheum. 2007 56:334-44 Publication

  58. Mcnearny TA, Reveille JD, Fischbach M, Friedman AF, Lisse JR, Goel N, Tan FK,  Zhou X,  Ahn  C, Feghali-Bostwick CA, Fritzler M, Arnett FC, Mayes MD. Pulmonary involvement in systemic sclerosis: Associations with genetic, serologic, sociodemographic, and behavioral factors. Arthritis Care Res, 2007 57: 318-326 Publication

  59. Alkassab F, Gourh P, Tan FK, McNearny T, Fischbach M, Ahn C, Arnett FC, Mayes MD. An allograft inflammatory factor 1 (AIF1) single nucleotide polymorphism (SNP) is associated with anticentromere antibody positive systemic sclerosis. Rheumatology (Oxford), 2007 Publication

  60. Assassi S, Arnett FC, Reveille JD, Gourh P, Mayes MD. Clinical, immunologic, and genetic features of familial systemic sclerosis. Arthritis Rheum, 2007 56: 2031 - 2037 Publication

  61. Gourh P, Mayes MD, Arnett FC. CTGF polymorphism associated with systemic sclerosis. N Engl J Med, 2008 358:308-309 Publication

  62. Agarwal SK, Tan FK, Arnett FC. Genetics and Genomic studies in scerloderma (systemic sclerosis). Rheum Dis Clin N Am, 2008 34:17-40 Publication

  63. Xiong M, Arnett FC, Guo X, Xiong H, Zhou X. Differential dynamic properties of scleroderma fibroblasts in response to environmental stimuli. PLoS ONE, 2008 3:e1693 Publication

  64. Kim D, Peck A, Santer D, Patole P, Schwartz S. Molitor JA, Arnett FC, Elkon K. Induction of interferon-a  by scleroderma sera containing autoantibodies to topoisomerase I: Association of higher interferon-a activity with lung fibrosis. Arthritis Rheum, 2008 58:2174-2182 Publication

  65. Arnett FC, Gourh P, Shete S, Ahn CW, Honey RE, Agarwal SA, Tan FK, McNearny T, Fischbach M, Fritzler MJ, Mayes MD, Reveille JD. Major histocompatibility complex (MHC) class II alleles, haplotypes and epitopes which confer susceptibility or protection in the fibrosing autoimmune disease systemic sclerosis: Analyses in over 1300 American Caucasian, African and Hispanic Cases and 1000 controls. Annals Rheum Dis, 2010, 69:822-827  Published Online First: 12 July 2009 Publication  Supplemental data

  66. Assassi S, Fritzler MJ, Arnett FC, Norman GL, Shah KR, Gourh P, Manek N, Perry M, Ganesh D, Rahbar MH, Mayes MD.  Primary biliary cirrhosis (PBC), PBC autoantibodies, and hepatic parameter abnormalities in a large population of systemic sclerosis patients. J Rheum, 2009, 36:2250-2256  Published online 1 September 2009 Publication

  67. Gourh P, Arnett FC, Tan FK, Assassi, S, Divecha D, Paz G, McNearney T, Draeger, Reveille JD Mayes MD, Agarwal SK.  Association of TNFSF4 (OX40L) polymorphisms with susceptibility to systemic sclerosis.  Annals Rheum Dis. 2010 69: 550-555  Published Online First: 23 September 2009. Publication

  68. Assassi S, del Junco D, Sutter K, McNearney TA, Reveille JD, Karnavas A, Gourh P, Estrada-Y-Martin RM, Fischbach M, Arnett FC, Mayes MD. Clinical and genetic factors predictive of mortality in early systemic sclerosis. Arthritis  Rheum 2009, 61:1403-1411Publication

  69. Gourh P, Agarwal SK, Martin E, Divecha D, Rueda B, Buntin H, Assassi S, Paz G, Shete S, McNearney T, Draeger H, Reveille JD, Radstake TRDJ, Simeon CP, Rodriguez L, Vicente E,  Gonzalez-Gay MA, Mayes MD, Tan FK, Martin J, Arnett FC. Association of the C8orf13-BLK Region with Systemic Sclerosis in North-American and European Populations. J. Autoimmun 2010, 34:155-162 Published online 30 September 2009 Publication

  70. Gourh P, Arnett FC, Tan FK, Huang M, Diekman L, Assassi S, Mayes MD, ReveilleJD, Agarwal SA. Plasma cytokine profiles in systemic sclerosis: Associations with autoantibody subsets and clinical manifestations. Arthritis Res Ther, 11:R147 Published online 2 October 2009 Publication

  71. Rueda B, Gourh P, Broen J, Agarwal SK, Simeón CP, Ortego-Centeno N, Vonk MC, Coenen M, Riemekasten G, Hunzelmann N, Hesselstrand R, Tan FK, Reveille JD, Assasi S, Garcia-Hernandez FJ, Carreira P, Camps M, Fernandez-Nebro A, Garcia de la Peña P, Nearney T, Hilda D, Gónzalez-Gay MA, Airo P, Beretta L, Scorza R, Radstake TR, Mayes M, Arnett FC, Martin J. BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians. Ann Rheum Dis. 2010, 69:700-705  Published Online 8 October 2009 Publication

  72. Gourh P, Agarwal SK, Divecha D, Assassi S, Paz G, Arora-Singh RK, Reveille JD, Shete S, Mayes MD, Arnett FC, Tan FK.  Genetic polymorphisms in TBX21 (T-bet) and STAT4 increase risk for systemic sclerosis in two independent cohorts: evidence of possible gene-gene interaction and alterations in Th1/Th2 cytokine profiles. Arthritis Rheum 2009, 60:3794-3806 Publication

  73. Zhou X, Lee JE, Arnett FC, Xiong M, Park MY, Shin ES, Reveille JD, Mayes MD, Kim JH, Song R, Choi, JY, Park JA, Lee EY, Song YW, Lee EB. HLA-DPB1 and DPB2 are genetic loci for systemic sclerosis - Genome-wide association study in Koreans with replication in North Americans. Arthritis Rheum 2009, 60:3807-3814 Publication

  74. Broen J, Gourth P, Rueda B, Coenen M, Mayes M, Martin J, Arnett FC, Radstake TRDJ, European Consortium on Systemic Sclerosis Genetics. The FAS -670A>G polymorphism influences the susceptibility to systemic sclerosis phenotypes. Arthritis Rheum 2009, 60:3815-3820 Publication

  75. McNearny TA, Hunnicutt SE, Fishbach M, Friedman AF, Aguilar M, Ahn CW, Reveille JD, Lisse JR, Baethge BA, Goel N, Mayes MD, for the GENISOS Study Group. Perceived functioning has ethnic-specific associations in systemic sclerosis: Another dimension of personalized medicine. J Rheum 2009, 36:2724-2732 Publication

  76. Agarwal SK, Gourh P, Shete S, Paz G, Divecha D, Reveille JD, Assassi S, Tan FK, Mayes MD, Arnett FC. Association of Interleukin-23 Receptor polymorphisms with Anti-topoisomerase-I Positivity and pulmonary hypertension in systemic sclerosis. J. Rheum 2009, 36:2715-2723 Publication

  77. Assassi S, Mayes MD, Arnett RC, Gourh P, Agarwal SK, McNearney TA, Chaessabel D, Oommen N, Fischbach M, Shah KR, Charles J, Pascual V, Reveille JD, Tan FK.  Systemic sclerosis and Lupus: Points in an interferon-mediated continuum. Arthritis Rheum 2010, 62:589-598 Publication Supplemental Data

  78. Karp DR, Marthandan N, Marsh SG, Ahn C, Arnett FC, Deluca DS, Diehl AD, Dunivin R, Eilbeck K, Feolo M, Guidry PA, Helmberg W, Lewis S, Mayes MD, Mungall C, Natale DA, Peters B, Petersdorf E, Reveille JD, Smith B, Thomson G, Waller MJ, Scheuermann RH. Novel sequence feature variant type analysis of the HLA genetic association in systemic sclerosis. Hum Mol Genet, 2010, 19:707-719 Publication

  79. Cockrill T, Del Junco D, Arnett FC, Assassi, S, Tan FK, Mayes MD. Separate Influences of Birth Order and Gravidity/Parity on the Development of Systemic Sclerosis. Arthritis Care Res 2010, 62:418-424 Publication

  80. Sonnylal S, Shi-wen X, Leoni P, Naff K, Van Pelt C, Nakamura H, Leask A, Abraham D, Bou-Gharios G, de Crombrugghe B. Selective expression of connective tissue growth factor in fibroblasts in vivo promotes systemic tissue fibrosis. Arthritis Rheum 2010, Published Online 8 Mar 2010 Publication

  81. Agarwal SK, Reveille JD. The genetics of scleroderma. Curr Opin Rheumatol, 2010, 22:133-138 Publication

  82. Arora-Singh R, Assassi S, del Junco D, Arnett FC, Perry M, Irfan U, Sharif R, Mattar T, Mayes MD. Autoimmine diseases and autoantibodies in first degree relatives of patients with systemic sclerosis. J Autoimmunity, 2010, Published Online 11 March 2010 Publication

  83. Lenna S, Townsend DM, Tan FK, Kapanadze B, Markiewicz M, Trojanowska M, Scorza R. HLA B-35 upregulates ET-1 and downregulated eNOS via ER stress response in endothelial cells. J Immunol. 2010, Published Online 10 Mar 24 2010 Publication

  84. Wang JC, Lai S, Guo X, Zhang X, de Crombrugghe B, Arnett FC, Zhou X. Attenuation of fibrosis in vitro and in vivo with Sparc siRNA. Arthritis Res Ther. 2010, published Online 1 April 2010 Publication

  85. Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, Palomino-Morales R, Coenen MJ, Vonk MC, Voskuyl AE, Scheurwegh AJ, Broen JC, van Riel PL, van 't Slot R, Italiaander A, Ophoff RA, Riemekasten G, Hunzelmann N, Simeon CP, Ortego-Centeno N, González-Gay MA, González-Escribano MF; Spanish Scleroderma Group, Airo P, van Laar J, Herrick A, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels P, Westhovens R, Kreuter A, Kiener H, de Baere E, Witte T, Padykov L, Klareskog L, Beretta L, Scorza R, Lie BA, Hoffmann-Vold AM, Carreira P, Varga J, Hinchcliff M, Gregersen PK, Lee AT, Ying J, Han Y, Weng SF, Amos CI, Wigley FM, Hummers L, Nelson JL, Agarwal SK, Assassi S, Gourh P, Tan FK, Koeleman BP, Arnett FC, Martin J, Mayes MD. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nat Genet 2010, published Online 1 April 2010 Publication

  86. Assassi S, Sharif R, Lasky RE, McNearney TA, Estrada YMR, Draeger HT, Nair DK, Fritzler, Reveille JD, Arnett FC, Mayes MD.  Predictors of interstitial lung disease in early systemic sclerosis: a prospective longitudinal study of the GENISOS cohort. Arthritis Res Ther 2010;12:R166 Publication

  87. Assassi S, Reveille JD, Arnett FC, Weisman MH, Ward MM, Agarwal SK, Gourh P, Bhula J, Sampat K, Mayes MD, Tan FK. Whole blood gene expression profiling in ankylosing spondylitis show up-regulation of toll-like receptor 4 and 5.  J Rheumatol. 2010 Oct 15. [Epub ahead of print] Publication

  88. Nguyen B, Mayes MD, Arnett FC, Del Junco D, Reveille JD, Gonzalez EB, Draeger HT, Perry M, Hendiani A, Anand KK, Assassi S. HLA-DRB1*0407 and *1304 are risk factors for scleroderma renal crisis. Arthritis Rheum. 2011, 63:530-534 Publication

  89. Diaz-Gallo L, Gourh P, Broen J, Simeon C, Fonollosa V, Ortego-Centeno N, Agarwal S, Vonk M, Coenen M, Riemekasten G, Hunzelmann N, Hesselstrand R, Tan F, Reveille J, Assassi S, García-Hernandez F, Carreira P, Camps M, Fernandez-Nebro A, de la Peña PG, Nearney T, Hilda D, González-Gay M, Airo P, Beretta L, Scorza R, Herrick A, Worthington J, Pros A, Gómez-Gracia I, Trapiella L, Espinosa G, Castellvi I, Witte T, de Keyser F, Vanthuyne M, Mayes M, Radstake T, Arnett F, Martin J, Rueda B. Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis. Ann Rheum Dis. 2011, 70:454-62 Publication

  90. Agarwal SK, Wu M, Livingston CK, Parks DH, Mayes MD, Arnett FC and Tan FK. Toll-like receptor 3 upregulation by type I interferon in healthy and scleroderma dermal fibroblasts.  Arthritis Res Ther. 2011 Jan 11;13:R3. [Epub ahead of print] Publication

  91. Sharif R, Mayes MD, Nicassio PM, Gonzalez EB, Draeger H, McNearney TA, Estrada-Y-Martin RM, Nair DK, Reveille JD, Arnett FC, Assassi S; GENISOS Study Group. Determinants of Work Disability in Patients with Systemic Sclerosis: A Longitudinal Study of the GENISOS Cohort. Semin Arthritis Rheum. 2011 Mar 21. [Epub ahead of print] Publication

  92. Sharif R, Fritzler MJ, Mayes MD, Gonzalez EB, McNearney TA, Draeger H, Baron M, Furst DE, Khanna DK, Del Junco DJ, Molitor JA, Schiopu E, Phillips K, Seibold JR, Silver RM, Simms RW, Perry M, Rojo C, Charles J, Zhou X, Agarwal SK, Reveille JD, Assassi S, Arnett FC. Anti-fibrillarin antibody in African American patients with systemic sclerosis: Immunogenetics, clinical features and survival analysis. J Rheumatol. 2011 May 15. [Epub ahead of print] Publication

  93. Chaudhary P, Chen X, Assassi S, Gorlova O, Draeger H, Harper BE, Gonzalez E, McNearney T, Perry M, Arnett FC, Mayes MD. Cigarette smoking is not a risk factor for systemic sclerosis. Arthritis Rheum. 2011 Jun 6. doi: 10.1002/art.30492. [Epub ahead of print] Publication

  94. Gorlova O, Martin JE, Rueda B, et al. Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through genome-wide association strategy.  PLoS Genetics. 2011 July  7:e1002178 Publication

  95. Zhou X, Lin W, Tan FK, Assassi S, Fritzler MJ, Guo X, Sharif R, Xia T, Lai S, Arnett FC. Decreased catalytic function with altered sumoylation of DNA topoisomerase I in the nuclei of scleroderma fibroblasts.  Arthritis Res Ther. 2011 Aug 9;13(4):R128. [Epub ahead of print] Publication

  96. Carmona FD, Gutala R, Simeón CP, Carreira P, Ortego-Centeno N, Vicente-Rabaneda E, García-Hernández FJ, García de la Peña P, Fernández-Castro M, Martínez-Estupiñán L, Egurbide MV, Tsao BP, Gourh P, Agarwal SK, Assassi S, Mayes MD, Arnett FC, Tan FK, Martín J; Spanish Scleroderma Group. Novel identification of IRF7 region as an anti-centromere autoantibody propensity locus in systemic sclerosis. Ann Rheum Dis. 2012; 71:114-119 Publication

  97. Bossini-Castillo L, Martin JE, Broen J, Gorlova O, Simeón CP, Beretta L, Vonk MC, Callejas JL, Castellví I, Carreira P, García-Hernández FJ, Fernández Castro M; Spanish Scleroderma Group, Coenen MJ, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Distler JH, Koeleman BP, Voskuyl AE, Schuerwegh AJ, Palm Ø, Hesselstrand R, Nordin A, Airó P, Lunardi C, Scorza R, Shiels P, van Laar JM, Herrick A, Worthington J, Denton C, Tan FK, Arnett FC, Agarwal SK, Assassi S, Fonseca C, Mayes MD, Radstake TR, Martin J. A GWAS followup study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasians populations. Hum Mol Genet. 2012; Feb 15;21(4):926-33. Epub 2011 Nov 10. Publication

  98. Wu M, Schneider DJ, Mayes MD, Assassi S, Arnett FC, Tan FK, Blackburn MR, Agarwal SK. Osteopontin in systemic sclerosis and its role in dermal fibrosis.  J Invest Dermatol. 2012 Mar 8. doi: 10.1038/jid.2012.32. [Epub ahead of print]. Publication

  99. Martin JE, Broen JC, Carmona FD, Teruel M, Simeon CP, Vonk MC, van 't Slot R, Rodriguez-Rodriguez L, Vicente E, Fonollosa V, Ortego-Centeno N, González-Gay MA, García-Hernández FJ, de la Peña PG, Carreira P; Spanish Scleroderma Group, Voskuyl AE, Schuerwegh AJ, van Riel PL, Kreuter A, Witte T, Riemekasten G, Airo P, Scorza R, Lunardi C, Hunzelmann N, Distler JH, Beretta L, van Laar J, Chee MM, Worthington J, Herrick A, Denton C, Tan FK, Arnett FC, Assassi S, Fonseca C, Mayes MD, Radstake TR, Koeleman BP, Martin J. Identification of CSK as a systemic sclerosis genetic risk factor through genome wide association study followup. Hum Mol Genet. 2012 21:2825-2835 Publication

  100. Sharif R, Mayes MD, Tan FK, Gorlova OY, Hummers LK, Shah AA, Furst DE, Khanna D, Martin J, Bossini-Castillo L, Gonzalez EB, Ying J, Draeger HT, Agarwal SK, Reveille JD, Arnett FC, Wigley FM, Assassi S. IRF5 polymorphism predicts prognosis in patients with systemic sclerosis. Ann Rheum Dis. 2012; 71:1197-1202 Publication

  101. Thombs BD, Jewett LR, Assassi S, Baron M, Bartlett SJ, Maia AC, El-Baalbaki G, Furst DE, Gottesman K, Haythornthwaite JA, Hudson M, Impens A, Korner A, Leite C, Mayes MD, Malcarne VL, Motivala SJ, Mouthon L, Nielson WR, Plante D, Poiraudeau S, Poole JL, Pope J, Sauve M, Steele RJ, Suarez-Almazor ME, Taillefer S, van den Ende CH, Arthurs E, Bassel M, Delisle V, Milette K, Leavens A, Razykov I, Khanna D. New directions for patient-centred care in scleroderma: the Scleroderma Patient-centred Intervention Network (SPIN). Clin Exp Rheumatol. 2012. 30(2 Suppl 71):S23-9. Epub 2012 May 29. Publication

  102. Barnes J, Mayes MD. Epidemiology of systemic sclerosis: incidence, prevalence, survival, risk factors, malignancy, and environmental triggers. Curr Opin Rheumatol 2012, 24:165-170 Publication

  103. Assassi S, Leyva A, Mayes MD, Sharif R, Nair DK, Fishbach M, Nguyen N, Reveille JD, Gonzalez EB, McNearny TA. Predictors of fatigue severity in early systemic sclerosis: a prospective longitudinal study of the GENISOS cohort. PLoS ONE 6(10): e26061. doi:10.1371/journal.pone.0026061 Publication
  104. Bossini-Castillo L, Martin JE, Broen J, Simeon CP, Beretta L, Gorlova OY, Vonk MC, Ortego-Centeno N, Espinosa G, Carreira P, García de la Peña P, Oreiro N, Román-Ivorra JA, Castillo MJ, González-Gay MA, Sáez-Comet L, Castellví I, Schuerwegh AJ, Voskuyl AE, Hoffmann-Vold AM, Hesselstrand R, Nordin A, Lunardi C, Scorza R, van Laar JM, Shiels PG, Herrick A, Worthington J, Fonseca C, Denton C, Tan FK, Arnett FC, Assassi S, Koeleman BP, Mayes MD, Radstake TR, Martin J; the Spanish Scleroderma Group. Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study. Ann Rheum Dis. 2013  72:602-607 Publication

  105. Di Domizio J, Dorta-Estremera S, Gagea M, Ganguly D, Meller S, Li P, Zhao B, Tan FK, Bi L, Gilliet M, Cao W. Nucleic acid-containing amyloid fibrils potently induce type I interferon and stimulate systemic autoimmunity. Proc Natl Acad Sci U S A. 2012 Sep 4;109(36):14550-5. Epub 2012 Aug 17 PubMed

  106. Mayes MD. The genetics of scleroderma: looking into the post-genomic era. Curr Opin Rheumatol. 2012 Nov;24(6):677-84 PubMed

  107. Liu X, Mayes MD, Tan FK, Wu M, Reveille JD, Harper BE, Draeger HT, Gonzalez EB, Assassi S. Correlation of interferon-inducible chemokine plasma levels with disease severity in systemic sclerosis. Arthritis Rheum. 2013 Jan; 65:226-235 Publication

  108. Assassi S, Radstake TR, Mayes MD, Martin J. Genetics of scleroderma: implications for personalized medicine? BMC Med. 2013, 11:9 Publication

  109. Carmona FD, Cénit MC, Diaz-Gallo LM, Broen JC, Simeón CP, Carreira PE, Callejas-Rubio JL, Fonollosa V, López-Longo FJ, González-Gay MA, Hunzelmann N, Riemekasten G, Witte T, Kreuter A, Distler JH, Madhok R, Shiels P, van Laar JM, Schuerwegh AJ, Vonk MC, Voskuyl AE, Fonseca C, Denton CP, Herrick A, Worthington J, Arnett FC, Tan FK, Assassi S, Radstake TR, Mayes MD, Martín J; Spanish Scleroderma Group. New insight on the Xq28 association with systemic sclerosis.  Ann Rheum Dis. 2013 Feb 26. [Epub ahead of print] Publication

  110. Hung EW, Mayes MD, Sharif R, Assassi S, Machicao VI, Hosing C, St Clair EW, Furst DE, Khanna D, Forman S, Mineishi S, Phillips K, Seibold JR, Bredeson C, Csuka ME, Nash RA, Wener MH, Simms R, Ballen K, Leclercq S, Storek J, Goldmuntz E, Welch B, Keyes-Elstein L, Castina S, Crofford LJ, Mcsweeney P, Sullivan KM. Gastric antral vascular ectasia and its clinical correlates in patients with early diffuse systemic sclerosis in the SCOT trial. J Rheumatol. 2013 Apr;40(4):455-60 Publication

  111. Merz EL, Malcarne VL, Roesch SC, Sharif R, Harper BE, Draeger HT, Gonzalez EB, Nair DK, McNearney TA, Assassi S, Mayes MD. Measuring illness behavior in patients with systemic sclerosis. Arthritis Care Res (Hoboken). 2013, 65:585-593 Publication

  112. Elhaj M, Charles J, Pedroza C, Liu X, Zhou X, Estrada-Y-Martin RM, Gonzalez EB, Lewis DE, Draeger HT, Kim S, Arnett FC, Mayes MD, Assassi S. Can Serum Surfactant Protein D or CC-Chemokine Ligand 18 Predict Outcome of Interstitial Lung Disease in Patients with Early Systemic Sclerosis? J Rheumatol. 2013, 40:1114-1120. Publication

  113. Wang J, Assassi S, Guo G, Tu W, Wu W, Yang L, Xiao R, Zhao Y, Chu H, Liu J, Ma Y, Kim SJ, Jin L, Mayes MD, Zou H, Zhou X. Clinical and serological features of systemic sclerosis in a Chinese cohort. Clin Rheumatol. 2013. 32:617-21. Publication

  114. Yi L, Wang JC, Guo XJ, Gu YH, Tu WZ, Guo G, Yang L, Xiao R, Yu L, Mayes MD, Assassi S, Jin L, Zou HJ, Zhou XD. STAT4 is a genetic risk factor for systemic sclerosis in a Chinese population. Int J Immunopathol Pharmacol. 2013, 26:473-478

  115. Martin JE, Assassi S, Diaz-Gallo LM, Broen JC, Simeon CP, Castellvi I, Vicente-Rabaneda E, Fonollosa V, Ortego-Centeno N, González-Gay MA, Espinosa G, Carreira P; Spanish Scleroderma Group; SLEGEN consortium; U.S. Scleroderma GWAS group; BIOLUPUS, Camps M, Sabio JM, D'alfonso S, Vonk MC, Voskuyl AE, Schuerwegh AJ, Kreuter A, Witte T, Riemekasten G, Hunzelmann N, Airo P, Beretta L, Scorza R, Lunardi C, Van Laar J, Chee MM, Worthington J, Herrick A, Denton C, Fonseca C, Tan FK, Arnett F, Zhou X, Reveille JD, Gorlova O, Koeleman BP, Radstake TR, Vyse T, Mayes MD, Alarcón-Riquelme ME, Martin J. A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. Hum Mol Genet. 2013 Jun 10. Publication

  116. Assassi S, Wu M, Tan FK, Chang J, Graham TA, Furst DE, Khanna D, Charles J, Ferguson EC, Feghali Bostwick C, Mayes MD.   Skin gene expression correlates of severity of interstitial lung disease in systemic sclerosis. Arthritis Rheum. 2013 Jul 29. [Epub ahead of print] Publication

  117. Diaz-Gallo LM, Simeon CP, Broen JC, Ortego-Centeno N, Beretta L, Vonk MC, Carreira PE, Vargas S, Román-Ivorra JA, González-Gay MA, Tolosa C, López-Longo FJ, Espinosa G, Vicente EF, Hesselstrand R, Riemekasten G, Witte T, Distler JH, Voskuyl AE, Schuerwegh AJ, Shiels PG, Nordin A, Padyukov L, Hoffmann-Vold AM, Scorza R, Lunardi C, Airo P, van Laar JM, Hunzelmann N, Gathof BS, Kreuter A, Herrick A, Worthington J, Denton CP, Zhou X, Arnett FC, Fonseca C, Koeleman BP, Assasi S, Radstake TR, Mayes MD, Martín J; Spanish Scleroderma Group. Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility. Ann Rheum Dis. 2013, 72:1233-1238. Epub 2012 Nov 21 Publication
  118. Kwakkenbos L, Jewett LR, Baron M, Bartlett SJ, Furst D, Gottesman K, Khanna D, Malcarne VL, Mayes MD, Mouthon L, Poiraudeau S, Sauve M, Nielson WR, Poole JL, Assassi S, Boutron I, Ells C, van den Ende CH, Hudson M, Impens A, Körner A, Leite C, Costa Maia A, Mendelson C, Pope J, Steele RJ, Suarez-Almazor ME, Ahmed S, Coronado-Montoya S, Delisle VC, Gholizadeh S, Jang Y, Levis B, Milette K, Mills SD, Razykov I, Fox RS, Thombs BD. The Scleroderma Patient-centered Intervention Network (SPIN) Cohort: protocol for a cohort multiple randomised controlled trial (cmRCT) design to support trials of psychosocial and rehabilitation interventions in a rare disease context. BMJ Open. 2013, 7;3(8) Publication

  119. Liu X, Mayes MD, Pedroza C, Draeger HT, Gonzalez EB, Harper BE, Reveille JD, Assassi S. Does C-reactive protein predict the long-term progression of interstitial lung disease and survival in patients with early systemic sclerosis? Arthritis Care Res (Hoboken). 2013, 65:1375-1380. Publication

  120. de Achaval S, Kallen MA, Mayes MD, Lopez-Olivo MA, Suarez-Almazor ME. Use of the Patient-generated index in systemic sclerosis to assess patient-centered outcomes. J Rheumatol. 2013, 40:1337-1343. Epub 2013 Jun 15. Publication





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