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Items: 1 to 20 of 159

1.

Deficiency of Complement 1r subcomponent in early-onset SLE: Role for disease-modifying alleles in a monogenic disease.

Demirkaya E, Zhou Q, Smith CK, Ombrello MJ, Deuitch N, Tsai WL, Hoffmann P, Remmers EF, Takeuchi M, Park YH, Chae J, Barut K, Simsek D, Adrovic A, Sahin S, Caliskan S, Chandrasekharappa SC, Hasni SA, Ombrello AK, Gadina M, Kastner DL, Kaplan MJ, Kasapcopur O, Aksentijevich I.

Arthritis Rheumatol. 2017 May 23. doi: 10.1002/art.40158. [Epub ahead of print]

PMID:
28544690
2.

Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility.

Takeuchi M, Mizuki N, Meguro A, Ombrello MJ, Kirino Y, Satorius C, Le J, Blake M, Erer B, Kawagoe T, Ustek D, Tugal-Tutkun I, Seyahi E, Ozyazgan Y, Sousa I, Davatchi F, Francisco V, Shahram F, Abdollahi BS, Nadji A, Shafiee NM, Ghaderibarmi F, Ohno S, Ueda A, Ishigatsubo Y, Gadina M, Oliveira SA, Gül A, Kastner DL, Remmers EF.

Nat Genet. 2017 Mar;49(3):438-443. doi: 10.1038/ng.3786. Epub 2017 Feb 6.

PMID:
28166214
3.

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.

Ombrello MJ, Arthur VL, Remmers EF, Hinks A, Tachmazidou I, Grom AA, Foell D, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg AM, Wedderburn LR, Anton J, Haas JP, Rosen-Wolff A, Minden K, Tenbrock K, Demirkaya E, Cobb J, Baskin E, Signa S, Shuldiner E, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group, Inception Cohort of Newly Diagnosed Patients with Juvenile Idiopathic Arthritis (ICON-JIA) Study Group, Childhood Arthritis Prospective Study (CAPS) Group, Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators, Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group, Biologically Based Outcome Predictors in JIA (BBOP) Group., Langefeld CD, Thompson S, Zeggini E, Kastner DL, Woo P, Thomson W.

Ann Rheum Dis. 2017 May;76(5):906-913. doi: 10.1136/annrheumdis-2016-210324. Epub 2016 Dec 7.

4.

Systematic Analysis of Cell-to-Cell Expression Variation of T Lymphocytes in a Human Cohort Identifies Aging and Genetic Associations.

Lu Y, Biancotto A, Cheung F, Remmers E, Shah N, McCoy JP, Tsang JS.

Immunity. 2016 Nov 15;45(5):1162-1175. doi: 10.1016/j.immuni.2016.10.025.

PMID:
27851916
5.

Evaluation of KIR3DL1/KIR3DS1 polymorphism in Behçet's disease.

Erer B, Takeuchi M, Ustek D, Tugal-Tutkun I, Seyahi E, Özyazgan Y, Duymaz-Tozkir J, Gül A, Kastner DL, Remmers EF, Ombrello MJ.

Genes Immun. 2016 Dec;17(7):396-399. doi: 10.1038/gene.2016.36. Epub 2016 Oct 6.

PMID:
27708262
6.

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.

Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, Kuehn HS, Wang H, Yang D, Park YH, Ombrello AK, Blake M, Romeo T, Remmers EF, Chae JJ, Mullikin JC, Güzel F, Milner JD, Boehm M, Rosenzweig SD, Gadina M, Welch SB, Özen S, Topaloglu R, Abinun M, Kastner DL, Aksentijevich I.

Proc Natl Acad Sci U S A. 2016 Sep 6;113(36):10127-32. doi: 10.1073/pnas.1612594113. Epub 2016 Aug 24.

7.

Hypophosphatasia and the risk of atypical femur fractures: a case-control study.

Bhattacharyya T, Jha S, Wang H, Kastner DL, Remmers EF.

BMC Musculoskelet Disord. 2016 Aug 9;17:332. doi: 10.1186/s12891-016-1191-8.

8.

A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet's disease in HLA-B*51 carriers.

Takeuchi M, Ombrello MJ, Kirino Y, Erer B, Tugal-Tutkun I, Seyahi E, Özyazgan Y, Watts NR, Gül A, Kastner DL, Remmers EF.

Ann Rheum Dis. 2016 Dec;75(12):2208-2211. doi: 10.1136/annrheumdis-2015-209059. Epub 2016 May 23.

9.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, de Jesus AA, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Krüger E, Aksentijevich I, Goldbach-Mansky R.

J Clin Invest. 2016 Feb;126(2):795. doi: 10.1172/JCI86020. Epub 2016 Feb 1. No abstract available.

10.

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.

Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Mellins ED, Ilowite NT, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg A, Wedderburn LR, Anton J, Schwarz T, Hinks A, Bilginer Y, Park J, Cobb J, Satorius CL, Han B, Baskin E, Signa S, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group.; Childhood Arthritis Prospective Study (CAPS) Group.; Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators.; Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group.; Biologically Based Outcome Predictors in JIA (BBOP) Group., de Bakker PI, Raychaudhuri S, Langefeld CD, Thompson S, Zeggini E, Thomson W, Kastner DL, Woo P; International Childhood Arthritis Genetics (INCHARGE) Consortium..

Proc Natl Acad Sci U S A. 2015 Dec 29;112(52):15970-5. doi: 10.1073/pnas.1520779112. Epub 2015 Nov 23.

11.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, Almeida de Jesus A, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Krüger E, Aksentijevich I, Goldbach-Mansky R.

J Clin Invest. 2015 Nov 2;125(11):4196-211. doi: 10.1172/JCI81260. Epub 2015 Oct 20. Erratum in: J Clin Invest. 2016 Feb;126(2):795. Rother, Kristina [corrected to Rother, Kristina I].

12.

The immunogenetics of Behçet's disease: A comprehensive review.

Takeuchi M, Kastner DL, Remmers EF.

J Autoimmun. 2015 Nov;64:137-48. doi: 10.1016/j.jaut.2015.08.013. Epub 2015 Sep 5. Review.

13.

Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics.

Ombrello MJ, Kastner DL, Remmers EF.

Curr Opin Rheumatol. 2015 Jul;27(4):349-56. doi: 10.1097/BOR.0000000000000189. Review.

14.

Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation.

Zhou Q, Aksentijevich I, Wood GM, Walts AD, Hoffmann P, Remmers EF, Kastner DL, Ombrello AK.

Arthritis Rheumatol. 2015 Sep;67(9):2482-6. doi: 10.1002/art.39190.

15.

A polymorphism in CCR1/CCR3 is associated with narcolepsy.

Toyoda H, Miyagawa T, Koike A, Kanbayashi T, Imanishi A, Sagawa Y, Kotorii N, Kotorii T, Hashizume Y, Ogi K, Hiejima H, Kamei Y, Hida A, Miyamoto M, Imai M, Fujimura Y, Tamura Y, Ikegami A, Wada Y, Moriya S, Furuya H, Takeuchi M, Kirino Y, Meguro A, Remmers EF, Kawamura Y, Otowa T, Miyashita A, Kashiwase K, Khor SS, Yamasaki M, Kuwano R, Sasaki T, Ishigooka J, Kuroda K, Kume K, Chiba S, Yamada N, Okawa M, Hirata K, Mizuki N, Uchimura N, Shimizu T, Inoue Y, Honda Y, Mishima K, Honda M, Tokunaga K.

Brain Behav Immun. 2015 Oct;49:148-55. doi: 10.1016/j.bbi.2015.05.003. Epub 2015 May 15.

PMID:
25986216
16.

Genetic architectures of seropositive and seronegative rheumatic diseases.

Kirino Y, Remmers EF.

Nat Rev Rheumatol. 2015 Jul;11(7):401-14. doi: 10.1038/nrrheum.2015.41. Epub 2015 Apr 28. Review.

PMID:
25907699
17.

Overlap of familial Mediterranean fever and hyper-IgD syndrome in an Arabic kindred.

Moussa T, Aladbe B, Taha RZ, Remmers EF, El-Shanti H, Fathalla BM.

J Clin Immunol. 2015 Apr;35(3):249-53. doi: 10.1007/s10875-015-0140-x. Epub 2015 Feb 24.

PMID:
25708585
18.

Reply to Stoimenis et al.

Bakir-Gungor B, Remmers EF, Meguro A, Mizuki N, Kastner DL, Gul A, Sezerman OU.

Eur J Hum Genet. 2015 Oct;23(10):1280. doi: 10.1038/ejhg.2014.288. Epub 2015 Jan 14. No abstract available.

19.

Identification of possible pathogenic pathways in Behçet's disease using genome-wide association study data from two different populations.

Bakir-Gungor B, Remmers EF, Meguro A, Mizuki N, Kastner DL, Gul A, Sezerman OU.

Eur J Hum Genet. 2015 May;23(5):678-87. doi: 10.1038/ejhg.2014.158. Epub 2014 Sep 17.

20.

Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity.

Ombrello MJ, Kirino Y, de Bakker PI, Gül A, Kastner DL, Remmers EF.

Proc Natl Acad Sci U S A. 2014 Jun 17;111(24):8867-72. doi: 10.1073/pnas.1406575111. Epub 2014 May 12.

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