Keck School Faculty

On the genetics and immunopathogenesis of COVID-19 Clin Immunol. 2020 Sep 10; 220:108591. . View in PubMed

Essential role and therapeutic targeting of the glomerular endothelial glycocalyx in lupus nephritis JCI Insight. 2020 Sep 01. . View in PubMed

Development of Murine Systemic Lupus Erythematosus in the Absence of BAFF Arthritis Rheumatol. 2020 02; 72(2):292-302. . View in PubMed

Ultraviolet light induces increased T cell activation in lupus-prone mice via type I IFN-dependent inhibition of T regulatory cells J Autoimmun. 2019 09; 103:102291. . View in PubMed

Constitutive reduction in the checkpoint inhibitor, CTLA-4, does not accelerate SLE in NZM 2328 mice Lupus Sci Med. 2019; 6(1):e000313. . View in PubMed

A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus Hum Mol Genet. 2018 07 01; 27(13):2392-2404. . View in PubMed

Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans Hum Mol Genet. 2018 11 01; 27(21):3813-3824. . View in PubMed

TLR7-Mediated Lupus Nephritis Is Independent of Type I IFN Signaling J Immunol. 2018 07 15; 201(2):393-405. . View in PubMed

Haploinsufficiency of NADPH Oxidase Subunit Neutrophil Cytosolic Factor 2 Is Sufficient to Accelerate Full-Blown Lupus in NZM 2328 Mice Arthritis Rheumatol. 2017 08; 69(8):1647-1660. . View in PubMed

Transancestral mapping and genetic load in systemic lupus erythematosus Nat Commun. 2017 07 17; 8:16021. . View in PubMed

Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production Ann Rheum Dis. 2016 Nov; 75(11):2007-2013. . View in PubMed

Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture Arthritis Rheumatol. 2016 Apr; 68(4):932-43. . View in PubMed

Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity Elife. 2016 Feb 15; 5. . View in PubMed

Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans Arthritis Rheumatol. 2016 05; 68(5):1197-1209. . View in PubMed

Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA Ann Rheum Dis. 2016 Jan; 75(1):242-52. . View in PubMed

Genetic associations of leptin-related polymorphisms with systemic lupus erythematosus Clin Immunol. 2015 Dec; 161(2):157-62. . View in PubMed

Differential Development of Systemic Lupus Erythematosus in NZM 2328 Mice Deficient in Discrete Pairs of BAFF Receptors Arthritis Rheumatol. 2015 Sep; 67(9):2523-35. . View in PubMed

Systemic lupus erythematosus-associated neutrophil cytosolic factor 2 mutation affects the structure of NADPH oxidase complex J Biol Chem. 2015 May 15; 290(20):12595-602. . View in PubMed

Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression Am J Hum Genet. 2015 May 07; 96(5):731-9. . View in PubMed

Nomenclature of Toso, Fas apoptosis inhibitory molecule 3, and IgM FcR J Immunol. 2015 May 01; 194(9):4055-7. . View in PubMed

IgG1 protects against renal disease in a mouse model of cryoglobulinaemia Nature. 2015 Jan 22; 517(7535):501-4. . View in PubMed

The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share Hum Mol Genet. 2015 Jan 15; 24(2):582-96. . View in PubMed

Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus Genes Immun. 2015 Jan-Feb; 16(1):15-23. . View in PubMed

Lupus nephritis susceptibility loci in women with systemic lupus erythematosus J Am Soc Nephrol. 2014 Dec; 25(12):2859-70. . View in PubMed

GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region Genes Immun. 2014 Sep; 15(6):347-54. . View in PubMed

Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription Am J Hum Genet. 2014 Apr 03; 94(4):586-98. . View in PubMed

Lupus risk variants in the PXK locus alter B-cell receptor internalization Front Genet. 2014; 5:450. . View in PubMed

ABIN1 dysfunction as a genetic basis for lupus nephritis J Am Soc Nephrol. 2013 Nov; 24(11):1743-54. . View in PubMed

Variable association of reactive intermediate genes with systemic lupus erythematosus in populations with different African ancestry J Rheumatol. 2013 Jun; 40(6):842-9. . View in PubMed

Development of systemic lupus erythematosus in NZM 2328 mice in the absence of any single BAFF receptor Arthritis Rheum. 2013 Apr; 65(4):1043-54. . View in PubMed

Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups Ann Rheum Dis. 2013 Mar; 72(3):437-44. . View in PubMed

Trans-ancestral studies fine map the SLE-susceptibility locus TNFSF4 PLoS Genet. 2013; 9(7):e1003554. . View in PubMed

MicroRNA-3148 modulates allelic expression of toll-like receptor 7 variant associated with systemic lupus erythematosus PLoS Genet. 2013; 9(2):e1003336. . View in PubMed

Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production PLoS Genet. 2013; 9(2):e1003222. . View in PubMed

Preferential binding to Elk-1 by SLE-associated IL10 risk allele upregulates IL10 expression PLoS Genet. 2013; 9(10):e1003870. . View in PubMed

PTPN22 association in systemic lupus erythematosus (SLE) with respect to individual ancestry and clinical sub-phenotypes PLoS One. 2013; 8(8):e69404. . View in PubMed

Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries Ann Rheum Dis. 2012 Nov; 71(11):1809-14. . View in PubMed

Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus Arthritis Rheum. 2012 Nov; 64(11):3695-705. . View in PubMed

Impact of genetic ancestry and sociodemographic status on the clinical expression of systemic lupus erythematosus in American Indian-European populations Arthritis Rheum. 2012 Nov; 64(11):3687-94. . View in PubMed

A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus Genes Immun. 2012 Jul; 13(5):380-7. . View in PubMed

Evaluation of TRAF6 in a large multiancestral lupus cohort Arthritis Rheum. 2012 Jun; 64(6):1960-9. . View in PubMed

Analysis of autosomal genes reveals gene-sex interactions and higher total genetic risk in men with systemic lupus erythematosus Ann Rheum Dis. 2012 May; 71(5):694-9. . View in PubMed

Genetics of rheumatoid arthritis: an impressionist perspective Rheum Dis Clin North Am. 2012 May; 38(2):243-57. . View in PubMed

Dispensability of APRIL to the development of systemic lupus erythematosus in NZM 2328 mice Arthritis Rheum. 2012 May; 64(5):1610-9. . View in PubMed

Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study Am J Hum Genet. 2012 Apr 06; 90(4):648-60. . View in PubMed

Role of MYH9 and APOL1 in African and non-African populations with lupus nephritis Genes Immun. 2012 Apr; 13(3):232-8. . View in PubMed

Evidence for gene-gene epistatic interactions among susceptibility loci for systemic lupus erythematosus Arthritis Rheum. 2012 Feb; 64(2):485-92. . View in PubMed

Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase Proc Natl Acad Sci U S A. 2012 Jan 10; 109(2):E59-67. . View in PubMed

A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap PLoS Genet. 2011 Dec; 7(12):e1002406. . View in PubMed

Identification of novel genetic susceptibility loci in African American lupus patients in a candidate gene association study Arthritis Rheum. 2011 Nov; 63(11):3493-501. . View in PubMed

Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus Ann Rheum Dis. 2011 Oct; 70(10):1752-7. . View in PubMed

Association of PPP2CA polymorphisms with systemic lupus erythematosus susceptibility in multiple ethnic groups Arthritis Rheum. 2011 Sep; 63(9):2755-63. . View in PubMed

Genetic analyses of interferon pathway-related genes reveal multiple new loci associated with systemic lupus erythematosus Arthritis Rheum. 2011 Jul; 63(7):2049-57. . View in PubMed

Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort Genes Immun. 2011 Jun; 12(4):270-9. . View in PubMed

Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility PLoS Genet. 2011 May; 7(5):e1002079. . View in PubMed

B Cell and BAFF dependence of IFN-a-exaggerated disease in systemic lupus erythematosus-prone NZM 2328 mice J Immunol. 2011 Apr 15; 186(8):4984-93. . View in PubMed

Reflections on Darwinian Evolution - Is there a Jewish Perspective? Rambam Maimonides Med J. 2011 Apr; 2(2):e0044.. View in PubMed

Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production PLoS Genet. 2011 Mar; 7(3):e1001323. . View in PubMed

Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus Nat Genet. 2011 Mar; 43(3):253-8. . View in PubMed

Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes PLoS Genet. 2011 Feb; 7(2):e1001311. . View in PubMed

Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study Am J Hum Genet. 2011 Jan 07; 88(1):83-91. . View in PubMed

On anti-tumor necrosis factor-induced systemic lupus erythematosus J Rheumatol. 2010 Jan; 37(1):3-5. . View in PubMed

The role of genetic variation near interferon-kappa in systemic lupus erythematosus J Biomed Biotechnol. 2010; 2010. . View in PubMed

Deficiency of type I IFN receptor in lupus-prone New Zealand mixed 2328 mice decreases dendritic cell numbers and activation and protects from disease J Immunol. 2009 Nov 01; 183(9):6021-9. . View in PubMed

A polymorphism within IL21R confers risk for systemic lupus erythematosus Arthritis Rheum. 2009 Aug; 60(8):2402-7. . View in PubMed

Evaluation of C1q genomic region in minority racial groups of lupus Genes Immun. 2009 Jul; 10(5):517-24. . View in PubMed

Identification of new SLE-associated genes with a two-step Bayesian study design Genes Immun. 2009 Jul; 10(5):446-56. . View in PubMed

Complement receptor 2 polymorphisms associated with systemic lupus erythematosus modulate alternative splicing Genes Immun. 2009 Jul; 10(5):457-69. . View in PubMed

Admixture in Hispanic Americans: its impact on ITGAM association and implications for admixture mapping in SLE Genes Immun. 2009 Jul; 10(5):539-45. . View in PubMed

Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus Proc Natl Acad Sci U S A. 2009 Apr 14; 106(15):6256-61. . View in PubMed

High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups Arthritis Rheum. 2009 Apr; 60(4):1085-95. . View in PubMed

Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE) Hum Mol Genet. 2009 Mar 15; 18(6):1171-80. . View in PubMed

Accelerated pathological and clinical nephritis in systemic lupus erythematosus-prone New Zealand Mixed 2328 mice doubly deficient in TNF receptor 1 and TNF receptor 2 via a Th17-associated pathway J Immunol. 2009 Feb 15; 182(4):2532-41. . View in PubMed

Function2Gene: a gene selection tool to increase the power of genetic association studies by utilizing public databases and expert knowledge BMC Bioinformatics. 2008 Jul 17; 9:311. . View in PubMed

Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci Nat Genet. 2008 Feb; 40(2):204-10. . View in PubMed

Identification of novel susceptibility genes in childhood-onset systemic lupus erythematosus using a uniquely designed candidate gene pathway platform Arthritis Rheum. 2007 Dec; 56(12):4164-73. . View in PubMed

Paucity of clinical disease despite serological autoimmunity and kidney pathology in lupus-prone New Zealand mixed 2328 mice deficient in BAFF J Immunol. 2006 Aug 15; 177(4):2671-80. . View in PubMed

The mouse cell surface protein TOSO regulates Fas/Fas ligand-induced apoptosis through its binding to Fas-associated death domain J Biol Chem. 2005 Mar 11; 280(10):9618-26. . View in PubMed

A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes Nat Genet. 2004 Aug; 36(8):837-41. . View in PubMed

Pivotal role of Stat4 and Stat6 in the pathogenesis of the lupus-like disease in the New Zealand mixed 2328 mice J Immunol. 2003 Aug 01; 171(3):1564-71. . View in PubMed

Differential contribution of IL-4 and STAT6 vs STAT4 to the development of lupus nephritis J Immunol. 2003 May 01; 170(9):4818-25. . View in PubMed

Characterization of the FcgammaRIIA promoter and 5'UTR sequences in patients with systemic lupus erythematosus Genes Immun. 2002 Oct; 3 Suppl 1:S47-50. . View in PubMed

In vivo staphylococcal superantigen-driven polyclonal Ig responses in mice: dependence upon CD4(+) cells and human MHC class II Int Immunol. 2001 Oct; 13(10):1291-300. . View in PubMed

Genetic and physical mapping of a type 1 diabetes susceptibility gene (IDDM12) to a 100-kb phagemid artificial chromosome clone containing D2S72-CTLA4-D2S105 on chromosome 2q33 Diabetes. 2000 Mar; 49(3):492-9. . View in PubMed

Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex families Hum Mol Genet. 1999 Apr; 8(4):639-44. . View in PubMed

Synergistic effect between IL-10 and bcl-2 genotypes in determining susceptibility to systemic lupus erythematosus Arthritis Rheum. 1998 Apr; 41(4):596-602. . View in PubMed

Impaired nonrestricted cytolytic activity in systemic lupus erythematosus: involvement of a pathway independent of Fas, tumor necrosis factor, and extracellular ATP that is associated with little detectable perforin Arthritis Rheum. 1997 Jun; 40(6):1130-7. . View in PubMed

Mutational analysis of TNF-alpha gene reveals a regulatory role for the 3'-untranslated region in the genetic predisposition to lupus-like autoimmune disease J Immunol. 1996 Apr 15; 156(8):3043-50. . View in PubMed

Cyclic nucleotide phosphodiesterase type IV participates in the regulation of IL-10 and in the subsequent inhibition of TNF-alpha and IL-6 release by endotoxin-stimulated macrophages J Immunol. 1995 Nov 15; 155(10):4909-16. . View in PubMed

The cytokine network in the pathogenesis of systemic lupus erythematosus and possible therapeutic implications Springer Semin Immunopathol. 1994; 16(2-3):181-200. . View in PubMed

Novel DNA polymorphism in the mouse tumor necrosis factor receptors type 1 and type 2 Immunogenetics. 1993; 37(3):199-203. . View in PubMed

Tumor necrosis factor and interferon gamma: relevance for immune regulation and genetic predisposition to autoimmune disease Semin Immunol. 1992 Jun; 4(3):147-54. . View in PubMed

Studies on the role of tumor necrosis factor in murine and human autoimmunity J Autoimmun. 1992 Apr; 5 Suppl A:133-43. . View in PubMed

Tumor necrosis factor alpha in murine systemic lupus erythematosus disease models: implications for genetic predisposition and immune regulation Cytokine. 1991 Nov; 3(6):551-61. . View in PubMed

Regulation of MHC class II antigen expressionOpposing effects of tumor necrosis factor-alpha on IFN-gamma-induced HLA-DR and Ia expression depends on the maturation and differentiation stage of the cell. J Immunol. 1991 Feb 01; 146(3):899-905. . View in PubMed

Heritable major histocompatibility complex class II-associated differences in production of tumor necrosis factor alpha: relevance to genetic predisposition to systemic lupus erythematosus Proc Natl Acad Sci U S A. 1990 Feb; 87(3):1233-7. . View in PubMed

Tumour necrosis factor-alpha in murine autoimmune 'lupus' nephritis Nature. 1988 Jan 28; 331(6154):356-8. . View in PubMed

In vivo treatment of (NZB X NZW)F1 lupus-like nephritis with monoclonal antibody to gamma interferon J Exp Med. 1987 Sep 01; 166(3):798-803. . View in PubMed