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Items: 26

1.

Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans.

Gourh P, Remmers EF, Boyden SE, Alexander T, Morgan ND, Shah AA, Mayes MD, Doumatey A, Bentley AR, Shriner D, Domsic RT, Medsger TA Jr, Steen VD, Ramos PS, Silver RM, Korman B, Varga J, Schiopu E, Khanna D, Hsu V, Gordon JK, Saketkoo LA, Gladue H, Kron B, Criswell LA, Derk CT, Bridges SL Jr, Shanmugam VK, Kolstad KD, Chung L, Jan R, Bernstein EJ, Goldberg A, Trojanowski M, Kafaja S, Maksimowicz-McKinnon KM, Mullikin JC, Adeyemo A, Rotimi C, Boin F, Kastner DL, Wigley FM.

Arthritis Rheumatol. 2018 Oct;70(10):1654-1660. doi: 10.1002/art.40541. Epub 2018 Aug 29.

PMID:
29732714
2.

Clinical and serological features of systemic sclerosis in a multicenter African American cohort: Analysis of the genome research in African American scleroderma patients clinical database.

Morgan ND, Shah AA, Mayes MD, Domsic RT, Medsger TA Jr, Steen VD, Varga J, Carns M, Ramos PS, Silver RM, Schiopu E, Khanna D, Hsu V, Gordon JK, Gladue H, Saketkoo LA, Criswell LA, Derk CT, Trojanowski MA, Shanmugam VK, Chung L, Valenzuela A, Jan R, Goldberg A, Remmers EF, Kastner DL, Wigley FM, Gourh P, Boin F.

Medicine (Baltimore). 2017 Dec;96(51):e8980. doi: 10.1097/MD.0000000000008980.

3.

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.

Ramnitz MS, Gourh P, Goldbach-Mansky R, Wodajo F, Ichikawa S, Econs MJ, White KE, Molinolo A, Chen MY, Heller T, Del Rivero J, Seo-Mayer P, Arabshahi B, Jackson MB, Hatab S, McCarthy E, Guthrie LC, Brillante BA, Gafni RI, Collins MT.

J Bone Miner Res. 2016 Oct;31(10):1845-1854. doi: 10.1002/jbmr.2870. Epub 2016 Sep 20.

4.

Independent replication and meta analysis of association studies establish TNFSF4 as a susceptibility gene preferentially associated with the subset of anticentromere-positive patients with systemic sclerosis.

Coustet B, Bouaziz M, Dieudé P, Guedj M, Bossini-Castillo L, Agarwal S, Radstake T, Martin J, Gourh P, Elhai M, Koumakis E, Avouac J, Ruiz B, Mayes M, Arnett F, Hachulla E, Diot E, Cracowski JL, Tiev K, Sibilia J, Mouthon L, Frances C, Amoura Z, Carpentier P, Cosnes A, Meyer O, Kahan A, Boileau C, Chiocchia G, Allanore Y.

J Rheumatol. 2012 May;39(5):997-1003. doi: 10.3899/jrheum.111270. Epub 2012 Mar 15.

5.

Novel identification of the IRF7 region as an anticentromere autoantibody propensity locus in systemic sclerosis.

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.

Ann Rheum Dis. 2012 Jan;71(1):114-9. doi: 10.1136/annrheumdis-2011-200275. Epub 2011 Sep 16.

6.

Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.

Gorlova O, Martin JE, Rueda B, Koeleman BP, Ying J, Teruel M, Diaz-Gallo LM, Broen JC, Vonk MC, Simeon CP, Alizadeh BZ, Coenen MJ, Voskuyl AE, Schuerwegh AJ, van Riel PL, Vanthuyne M, van 't Slot R, Italiaander A, Ophoff RA, Hunzelmann N, Fonollosa V, Ortego-Centeno N, González-Gay MA, García-Hernández FJ, González-Escribano MF, Airo P, van Laar J, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels PG, Westhovens R, Kreuter A, de Baere E, Witte T, Padyukov L, Nordin A, Scorza R, Lunardi C, Lie BA, Hoffmann-Vold AM, Palm O, García de la Peña P, Carreira P; Spanish Scleroderma Group, Varga J, Hinchcliff M, Lee AT, Gourh P, Amos CI, Wigley FM, Hummers LK, Nelson JL, Riemekasten G, Herrick A, Beretta L, Fonseca C, Denton CP, Gregersen PK, Agarwal S, Assassi S, Tan FK, Arnett FC, Radstake TR, Mayes MD, Martin J.

PLoS Genet. 2011 Jul;7(7):e1002178. doi: 10.1371/journal.pgen.1002178. Epub 2011 Jul 14. Erratum in: PLoS Genet. 2011 Aug;7(8). doi:10.1371/annotation/3aeebb2e-64e5-4548-8d65-1f2d5dfeb073. PLoS Genet. 2011 Aug;7(8). doi:10.1371/annotation/7a52649c-0942-4bd8-a5d3-3cdacca03cd8. Hummers, J [removed].

7.

Association study of ITGAM, ITGAX, and CD58 autoimmune risk loci in systemic sclerosis: results from 2 large European Caucasian cohorts.

Coustet B, Agarwal SK, Gourh P, Guedj M, Mayes MD, Dieude P, Wipff J, Avouac J, Hachulla E, Diot E, Cracowski JL, Tiev K, Sibilia J, Mouthon L, Frances C, Amoura Z, Carpentier P, Meyer O, Kahan A, Boileau C, Arnett FC, Allanore Y.

J Rheumatol. 2011 Jun;38(6):1033-8. doi: 10.3899/jrheum.101053. Epub 2011 Mar 1.

8.

Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis.

Diaz-Gallo LM, Gourh P, Broen J, Simeon C, Fonollosa V, Ortego-Centeno N, Agarwal S, Vonk MC, Coenen M, Riemekasten G, Hunzelmann N, Hesselstrand R, Tan FK, Reveille JD, Assassi S, García-Hernandez FJ, Carreira P, Camps MT, Fernandez-Nebro A, de la Peña PG, Nearney T, Hilda D, González-Gay MA, 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 MD, Radstake TR, Arnett FC, Martin J, Rueda B.

Ann Rheum Dis. 2011 Mar;70(3):454-62. doi: 10.1136/ard.2010.130138. Epub 2010 Dec 3. Erratum in: Ann Rheum Dis. 2011 Aug;70(8):1520.

9.

Whole-blood gene expression profiling in ankylosing spondylitis shows upregulation of toll-like receptor 4 and 5.

Assassi S, Reveille JD, Arnett FC, Weisman MH, Ward MM, Agarwal SK, Gourh P, Bhula J, Sharif R, Sampat K, Mayes MD, Tan FK.

J Rheumatol. 2011 Jan;38(1):87-98. doi: 10.3899/jrheum.100469. Epub 2010 Oct 15.

10.

Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.

Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, Palomino-Morales R, Coenen MJ, Vonk MC, Voskuyl AE, Schuerwegh 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.

Nat Genet. 2010 May;42(5):426-9. doi: 10.1038/ng.565. Epub 2010 Apr 11.

11.

Systemic sclerosis and lupus: points in an interferon-mediated continuum.

Assassi S, Mayes MD, Arnett FC, Gourh P, Agarwal SK, McNearney TA, Chaussabel D, Oommen N, Fischbach M, Shah KR, Charles J, Pascual V, Reveille JD, Tan FK.

Arthritis Rheum. 2010 Feb;62(2):589-98. doi: 10.1002/art.27224.

12.

The FAS -670A>G polymorphism influences susceptibility to systemic sclerosis phenotypes.

Broen J, Gourh P, Rueda B, Coenen M, Mayes M, Martin J, Arnett FC, Radstake TR; European Consortium on Systemic Sclerosis Genetics.

Arthritis Rheum. 2009 Dec;60(12):3815-20. doi: 10.1002/art.24964.

13.

Polymorphisms in TBX21 and STAT4 increase the risk of systemic sclerosis: evidence of possible gene-gene interaction and alterations in Th1/Th2 cytokines.

Gourh P, Agarwal SK, Divecha D, Assassi S, Paz G, Arora-Singh RK, Reveille JD, Shete S, Mayes MD, Arnett FC, Tan FK.

Arthritis Rheum. 2009 Dec;60(12):3794-806. doi: 10.1002/art.24958.

14.

Association of interleukin 23 receptor polymorphisms with anti-topoisomerase-I positivity and pulmonary hypertension in systemic sclerosis.

Agarwal SK, Gourh P, Shete S, Paz G, Divecha D, Reveille JD, Assassi S, Tan FK, Mayes MD, Arnett FC.

J Rheumatol. 2009 Dec;36(12):2715-23. doi: 10.3899/jrheum.090421. Epub 2009 Nov 16. Erratum in: J Rheumatol. 2010 Sep;37(9):1979.

15.

BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians.

Rueda B, Gourh P, Broen J, Agarwal SK, Simeon C, Ortego-Centeno N, Vonk MC, Coenen M, Riemekasten G, Hunzelmann N, Hesselstrand R, Tan FK, Reveille JD, Assassi 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 MD, Arnett FC, Martin J.

Ann Rheum Dis. 2010 Apr;69(4):700-5. doi: 10.1136/ard.2009.118174. Epub 2009 Oct 8. Erratum in: Ann Rheum Dis. 2011 May;70(5):880. Ann Rheum Dis. 2011 Aug;70(8):1520.

16.

Plasma cytokine profiles in systemic sclerosis: associations with autoantibody subsets and clinical manifestations.

Gourh P, Arnett FC, Assassi S, Tan FK, Huang M, Diekman L, Mayes MD, Reveille JD, Agarwal SK.

Arthritis Res Ther. 2009;11(5):R147. doi: 10.1186/ar2821. Epub 2009 Oct 2.

17.

Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations.

Gourh P, Agarwal SK, Martin E, Divecha D, Rueda B, Bunting H, Assassi S, Paz G, Shete S, McNearney T, Draeger H, Reveille JD, Radstake TR, Simeon CP, Rodriguez L, Vicente E, Gonzalez-Gay MA, Mayes MD, Tan FK, Martin J, Arnett FC.

J Autoimmun. 2010 Mar;34(2):155-62. doi: 10.1016/j.jaut.2009.08.014. Epub 2009 Sep 30.

18.

Clinical and genetic factors predictive of mortality in early systemic sclerosis.

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.

Arthritis Rheum. 2009 Oct 15;61(10):1403-11. doi: 10.1002/art.24734.

19.

Association of TNFSF4 (OX40L) polymorphisms with susceptibility to systemic sclerosis.

Gourh P, Arnett FC, Tan FK, Assassi S, Divecha D, Paz G, McNearney T, Draeger H, Reveille JD, Mayes MD, Agarwal SK.

Ann Rheum Dis. 2010 Mar;69(3):550-5. doi: 10.1136/ard.2009.116434. Epub 2009 Sep 23. Erratum in: Ann Rheum Dis. 2011 May;70(5):880.

20.

Primary biliary cirrhosis (PBC), PBC autoantibodies, and hepatic parameter abnormalities in a large population of systemic sclerosis patients.

Assassi S, Fritzler MJ, Arnett FC, Norman GL, Shah KR, Gourh P, Manek N, Perry M, Ganesh D, Rahbar MH, Mayes MD.

J Rheumatol. 2009 Oct;36(10):2250-6. doi: 10.3899/jrheum.090340. Epub 2009 Sep 1.

21.

Major histocompatibility complex (MHC) class II alleles, haplotypes and epitopes which confer susceptibility or protection in systemic sclerosis: analyses in 1300 Caucasian, African-American and Hispanic cases and 1000 controls.

Arnett FC, Gourh P, Shete S, Ahn CW, Honey RE, Agarwal SK, Tan FK, McNearney T, Fischbach M, Fritzler MJ, Mayes MD, Reveille JD.

Ann Rheum Dis. 2010 May;69(5):822-7. doi: 10.1136/ard.2009.111906. Epub 2009 Jul 12. Erratum in: Ann Rheum Dis. 2011 May;70(5):880.

22.

CTGF polymorphism associated with systemic sclerosis.

Gourh P, Mayes MD, Arnett FC.

N Engl J Med. 2008 Jan 17;358(3):308-9; author reply 309. No abstract available.

PMID:
18203332
23.

Clinical, immunologic, and genetic features of familial systemic sclerosis.

Assassi S, Arnett FC, Reveille JD, Gourh P, Mayes MD.

Arthritis Rheum. 2007 Jun;56(6):2031-7.

24.

An allograft inflammatory factor 1 (AIF1) single nucleotide polymorphism (SNP) is associated with anticentromere antibody positive systemic sclerosis.

Alkassab F, Gourh P, Tan FK, McNearney T, Fischbach M, Ahn C, Arnett FC, Mayes MD.

Rheumatology (Oxford). 2007 Aug;46(8):1248-51. Epub 2007 May 23.

PMID:
17522098
25.

Association of the PTPN22 R620W polymorphism with anti-topoisomerase I- and anticentromere antibody-positive systemic sclerosis.

Gourh P, Tan FK, Assassi S, Ahn CW, McNearney TA, Fischbach M, Arnett FC, Mayes MD.

Arthritis Rheum. 2006 Dec;54(12):3945-53.

26.

Signatures of differentially regulated interferon gene expression and vasculotrophism in the peripheral blood cells of systemic sclerosis patients.

Tan FK, Zhou X, Mayes MD, Gourh P, Guo X, Marcum C, Jin L, Arnett FC Jr.

Rheumatology (Oxford). 2006 Jun;45(6):694-702. Epub 2006 Jan 17.

PMID:
16418202

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