Now showing items 1-14 of 14

    • ABIN1 dysfunction as a genetic basis for lupus nephritis 

      "Caster, Dawn J.; Korte, Erik A.; Nanda, Sambit K.; McLeish, Kenneth R.; Oliver, Rebecca K.; G'Sell, Rachel T.; Sheehan, Ryan M.; Freeman, Darrell W.; Coventry, Susan C.; Kelly, Jennifer A.; Guthridge, Joel M.; James, Judith A.; Sivils, Kathy L.; Alarcon-Riquelme, Marta E.; Scofield, R. Hal; Adrianto, Indra; Gaffney, Patrick M.; Stevens, Anne M.; Freedman, Barry I.; Langefeld, Carl D.; Tsao, Betty P.; Pons-Estel, Bernardo A.; Jacob, Chaim O.; Kamen, Diane L.; Gilkeson, Gary S.; Brown, Elizabeth E.; Alarcon, Graciela S.; Edberg, Jeffrey C.; Kimberly, Robert P.; Martin, Javier; Merrill, Joan T.; Harley, John B.; Kaufman, Kenneth M.; Reveille, John D.; Anaya, Juan-Manuel; Criswell, Lindsey A.; Vila, Luis M.; Petri, Michelle; Ramsey-Goldman, Rosalind; Bae, Sang-Cheol; Boackle, Susan A.; Vyse, Timothy J.; Niewold, Timothy B.; Cohen, Philip; Powell, David W."
      "The genetic factors underlying the pathogenesis of lupus nephritis associated with systemic lupus erythematosus are largely unknown, although animal studies indicate that nuclear factor (NF)-?B is involved. We reported ...
       Artículo. 2013
    • Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility 

      Zhao, Jian; Wu, Hui; Khosravi, Melanie; Cui, Huijuan; Qian, Xiaoxia; Kelly, Jennifer A.; Kaufman, Kenneth M.; Langefeld, Carl D.; Williams, Adrienne H.; Comeau, Mary; Ziegler, Julie T.; Marion, Miranda C.; Adler, Adam; Glenn, Stuart B.; Alarcón-Riquelme, Marta E.; Pons-Estel, Bernardo A.; Harley, John B.; Bae, Sang-Cheol; Bang, So-Young; Cho, Soo-Kyung; Jacob, Chaim O.; Vyse, Timothy J.; Niewold, Timothy B.; Gaffney, Patrick M.; Moser, Kathy L.; Kimberly, Robert P.; Edberg, Jeffrey C.; Brown, Elizabeth E.; Alarcón, Graciela S.; Petri, Michelle A.; Ramsey-Goldman, Rosalind; Vilá, Luis M.; Reveille, John D.; James, Judith A.; Gilkeson, Gary S.; Kamen, Diane L.; Freedman, Barry I.; Anaya, Juan-Manuel; Merrill, Joan T.; Criswell, Lindsey A.; Scofield, Robert H.; Stevens, Anne M.; Guthridge, Joel M.; Chang, Deh-Ming; Song, Yeong Wook; Park, Ji Ah; Young Lee, Eun; Boackle, Susan; Grossman, Jennifer M.; Hahn, Bevra H.; Goodship, Timothy H. J.; Cantor, Rita M.; Yu, Chack-Yung; Shen, Nan; Tsao, Betty P.
      Systemic lupus erythematosus (SLE), a complex polygenic autoimmune disease, is associated with increased complement activation. Variants of genes encoding complement regulator factor H (CFH) and five CFH-related proteins ...
       Artículo. 2011
    • Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus 

      "Adrianto, Indra; Wang, Shaofeng; Wiley, Graham B.; Lessard, Christopher J.; Kelly, Jennifer A.; Adler, Adam J.; Glenn, Stuart B.; Williams, Adrienne H.; Ziegler, Julie T.; Comeau, Mary E.; Marion, Miranda C.; Wakeland, Benjamin E.; Liang, Chaoying; Kaufman, Kenneth M.; Guthridge, Joel M.; Alarcón?Riquelme, Marta E.; Alarcón, Graciela S.; Anaya, Juan?Manuel; Bae, Sang?Cheol; Kim, Jae?Hoon; Bin Joo, Young; Boackle, Susan A.; Brown, Elizabeth E.; Petri, Michelle A.; Ramsey?Goldman, Rosalind; Reveille, John D.; Vilá, Luis M.; Criswell, Lindsey A.; Edberg, Jeffrey C.; Freedman, Barry I.; Gilkeson, Gary S.; Jacob, Chaim O.; James, Judith A.; Kamen, Diane L.; Kimberly, Robert P.; Martín, Javier; Merrill, Joan T.; Niewold, Timothy B.; Pons?Estel, Bernardo A.; Scofield, R. Hal; Stevens, Anne M.; Tsao, Betty P.; Vyse, Timothy J.; Langefeld, Carl D.; Harley, John B.; Wakeland, Edward K.; Moser, Kathy L.; Montgomery, Courtney G.; Gaffney, Patrick M."
      "Objective Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by autoantibody production and altered type I interferon expression. Genetic surveys and genome-wide association studies have identified ...
       Artículo. 2012
    • Evaluation of imputation-based association in and around the integrin-?-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE) 

      "Han, Shizhong; Kim-Howard, Xana; Deshmukh, Harshal; Kamatani, Yoichiro; Viswanathan, Parvathi; Guthridge, Joel M.; Thomas, Kenaz; Kaufman, Kenneth M.; Ojwang, Joshua; Rojas-Villarraga, Adriana; Baca, Vicente; Orozco, Lorena; Rhodes, Benjamin; Choi, Chan-Bum; Gregersen, Peter K.; Merrill, Joan T.; James, Judith A.; Gaffney, Patrick M.; Moser, Kathy L.; Jacob, Chaim O.; Kimberly, Robert P.; Harley, John B.; Bae, Sang-Choel; Anaya, Juan-Manuel; Alarcón-Riquelme, Marta E.; Matsuda, Koichi; Vyse, Timothy J.; Nath, Swapan K."
      "We recently identified a novel non-synonymous variant, rs1143679, at exon 3 of the ITGAM gene associated with systemic lupus erythematosus (SLE) susceptibility in European-Americans (EAs) and African-Americans. Using ...
       Artículo. 2009
    • Evaluation of TRAF6 in a large multiancestral lupus cohort 

      "Namjou, Bahram; Choi, Chan?Bum; Harley, Isaac T. W.; Alarcón?Riquelme, Marta E.; Kelly, Jennifer A.; Glenn, Stuart B.; Ojwang, Joshua O.; Adler, Adam; Kim, Kwangwoo; Gallant, Caroline J.; Boackle, Susan A.; Criswell, Lindsey A.; Kimberly, Robert P.; Brown, Elizabeth E.; Edberg, Jeffrey; Alarcón, Graciela S.; Stevens, Anne M.; Jacob, Chaim O.; Gilkeson, Gary S.; Kamen, Diane L.; Tsao, Betty P.; Anaya, Juan?Manuel; Kim, Eun?Mi; Park, So?Yeon; Sung, Yoon?Kyoung; Guthridge, Joel M.; Merrill, Joan T.; Petri, Michelle; Ramsey?Goldman, Rosalind; Vilá, Luis M.; Niewold, Timothy B.; Martin, Javier; Pons?Estel, Bernardo A.; Vyse, Timothy J.; Freedman, Barry I.; Moser, Kathy L.; Gaffney, Patrick M.; Williams, Adrienne H.; Comeau, Mary E.; Reveille, John D.; Kang, Changwon; James, Judith A.; Scofield, R. Hal; Langefeld, Carl D.; Kaufman, Kenneth M.; Harley, John B.; Bae, Sang?Cheol"
      "Objective Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with significant immune system aberrations resulting from complex heritable genetics as well as environmental factors. We undertook to ...
       Artículo. 2012
    • Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons 

      Li, He; Reksten, Tove Ragna; Ice, John A.; Kelly, Jennifer A.; Adrianto, Indra; Rasmussen, Astrid; Wang, Shaofeng; He, Bo; Grundahl, Kiely M.; Glenn, Stuart B.; Miceli-Richard, Corinne; Bowman, Simon; Lester, Sue; Eriksson, Per; Eloranta, Maija-Leena; Brun, Johan G.; Gøransson, Lasse G.; Harboe, Erna; Guthridge, Joel M.; Kaufman, Kenneth M.; Kvarnström, Marika; Cunninghame Graham, Deborah S.; Patel, Ketan; Adler, Adam J.; Farris, A. Darise; Brennan, Michael T.; Chodosh, James; Gopalakrishnan, Rajaram; Weisman, Michael H.; Venuturupalli, Swamy; Wallace, Daniel J.; Hefner, Kimberly S.; Houston, Glen D.; Huang, Andrew J. W.; Hughes, Pamela J.; Lewis, David M.; Radfar, Lida; Vista, Evan S.; Contessa E., Edgar; Rohrer, Michael D.; Stone, Donald U.; Vyse, Timothy J.; Harley, John B.; Gaffney, Patrick M.; James, Judith A.; Turner, Sean; Alevizos, Ilias; Anaya, Juan-Manuel; Rhodus, Nelson L.; Segal, Barbara M.; Montgomery, Courtney G.; Scofield, R. Hal; Kovats, Susan; Mariette, Xavier; Rönnblom, Lars; Witte, Torsten; Rischmueller, Maureen; Wahren-Herlenius, Marie; Omdal, Roald; Jonsson, Roland; Ng, Wan-Fai; Nordmark, Gunnel; Lessard, Christopher J.; Sivils, Kathy L.
      Sjögren’s syndrome (SS) is a common, autoimmune exocrinopathy distinguished by keratoconjunctivitis sicca and xerostomia. Patients frequently develop serious complications including lymphoma, pulmonary dysfunction, neuropathy, ...
       Artículo. 2017
    • Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study 

      Lessard, Christopher J.; Adrianto, Indra; Kelly, Jennifer A.; Kaufman, Kenneth M.; Grundahl, Kiely M.; Adler, Adam; Williams, Adrienne H.; Gallant, Caroline J.; Alarcón-Riquelme, Marta E.; Anaya, Juan-Manuel; Bae, Sang-Cheol; Boackle, Susan; Brown, Elizabeth E.; Chang, Deh-Ming; Criswel, Lindsey A.; Edberg, Jeffrey C.; Freedman, Barry I.; Gregersen, Peter K.; Gilkeson, Gary S.; Jacob, Chaim O.; James, Judith A.; Kamen, Diane L.; Kimberly, Robert P.; Martin, Javier; Merrill, Joan T.; Niewold, Timothy B.; Park, So-Yeon; Petri, Michelle A.; Pons-Estel, Bernardo A.; Ramsey-Goldman, Rosalind; Reveille, John D.; Song, Yeong Wook; Stevens, Anne M.; Tsao, Betty P.; Vila, Luis M.; Vyse, Timothy J.; Yu, Chack-Yung; Guthridge, Joel M.; Bruner, Gail R.; Langefeld, Carl D.; Montgomery, Courtney; Harley, John B.; Scofield, Robert H.; Gaffney, Patrick M.; Moser, Kathy L.
      Systemic lupus erythematosus (SLE) is considered to be the prototypic autoimmune disease, with a complex genetic architecture influenced by environmental factors. We sought to replicate a putative association at 11p13 not ...
       Artículo. 2011
    • Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study 

      Lessard, Christopher J.; Adrianto, Indra; Ice, John A.; Wiley, Graham B.; Kelly, Jennifer A.; Glenn, Stuart B.; Adler, Adam J.; Li, He; Rasmussen, Astrid; Williams, Adrienne H.; Ziegler, Julie; Comeau, Mary; Marion, Miranda; Wakeland, Benjamin E.; Liang, Chaoying; Ramos, Paula S.; Grundahl, Kiely M.; Gallant, Caroline J.; Alarcón-Riquelme, Marta E.; Alarcón, Graciela S.; Anaya, Juan-Manuel; Bae, Sang-Cheol; Boackle, Susan; Brown, Elizabeth E.; Chang, Deh-Ming; Cho, Soo-Kyung; Criswel, Lindsey A.; Edberg, Jeffrey C.; Freedman, Barry I.; Gilkeson, Gary S.; Jacob, Chaim O.; James, Judith A.; Kamen, Diane L.; Kimberly, Robert P.; Kim, Jae-Hoon; Martin, Javier; Merrill, Joan T.; Niewold, Timothy B.; Park, So-Yeon; Petri, Michelle A.; Pons-Estel, Bernardo A.; Ramsey-Goldman, Rosalind; Reveille, John D.; Scofield, Robert H.; Song, Yeong Wook; Stevens, Anne M.; Tsao, Betty P.; Vila, Luis M.; Vyse, Timothy J.; Yu, Chack-Yung; Guthridge, Joel M.; Kaufman, Kenneth M.; Harley, John B.; Wakeland, Edward K.; Langefeld, Carl D.; Gaffney, Patrick M.; Montgomery, Courtney G.; Moser, Kathy L.
      Systemic lupus erythematosus (SLE) is a chronic heterogeneous autoimmune disorder characterized by the loss of tolerance to self-antigens and dysregulated interferon responses. The etiology of SLE is complex, involving ...
       Artículo. 2012
    • Lupus risk variant increases pSTAT1 binding and decreases ETS1 expression 

      "Lu, Xiaoming; Zoller, Erin E.; Weirauch, Matthew T.; Wu, Zhiguo; Namjou, Bahram; Williams, Adrienne H.; Ziegler, Julie T.; Comeau, Mary E.; Marion, Miranda C.; Glenn, Stuart B.; Adler, Adam; Shen, Nan; Nath, Swapan K.; Stevens, Anne M.; Freedman, Barry I.; Tsao, Betty P.; Jacob, Chaim O.; Kamen, Diane L.; Brown, Elizabeth E.; Gilkeson, Gary S.; Alarcón, Graciela S.; Reveille, John D.; Anaya, Juan-Manuel; James, Judith A.; Sivils, Kathy L.; Criswell, Lindsey A.; Vilá, Luis M.; Alarcón-Riquelme, Marta E.; Petri, Michelle; Scofield, R. Hal; Kimberly, Robert P.; Ramsey-Goldman, Rosalind; Bin Joo, Young; Choi, Jeongim; Bae, Sang-Cheol; Boackle, Susan A.; Graham, Deborah Cunninghame; Vyse, Timothy J.; Guthridge, Joel M.; Gaffney, Patrick M.; Langefeld, Carl D.; Kelly, Jennifer A.; Greis, Kenneth D.; Kaufman, Kenneth M.; Harley, John B.; Kottyan, Leah C."
      "Genetic variants at chromosomal region 11q23.3, near the gene ETS1, have been associated with systemic lupus erythematosus (SLE), or lupus, in independent cohorts of Asian ancestry. Several recent studies have implicated ...
       Artículo. 2015
    • Lupus risk variants in the PXK locus alter B-cell receptor internalization 

      Vaughn, Samuel E.; Foley, Corinne; Lu, Xiaoming; Patel, Zubin H.; Zoller, Erin E.; Magnusen, Albert F.; Williams, Adrienne H.; Ziegler, Julie T.; Comeau, Mary E.; Marion, Miranda C.; Tsao, Betty P.; Jacob, Chaim O.; Kamen, Diane L.; Brown, Elizabeth E.; Gikenson, Gary S.; Alarcón, Graciela S.; Reveille, John D.; Anaya, Juan-Manuel; James, Judith A.; Moser, Kathy L.; Criswell, Lindsey A.; Vilá, Luis M.; Alarcon-Riquelme, Marta E.; Petri, Michelle; Scofield, R. Hal; Kimberly, Robert P.; Binjoo, Young; Choi, Jeongim; Bae, Sang-Cheol; Boackle, Susan A.; Vyse, Timothy J.; Guthridge, Joel M.; Namjou, Bahram; Gaffney, Patrick M.; Langefeld, Carl D.; Kaufman, Kenneth M.; Kelly, Jennifer A.; Harley, Isaac T.W.; Harley, John B.; Kottyan, Leah C.
      Genome wide association studies have identified variants in PXK that confer risk for humoral autoimmune diseases, including systemic lupus erythematosus (SLE or lupus), rheumatoid arthritis and more recently systemic ...
       Artículo. 2014
    • PTPN22 Association in Systemic Lupus Erythematosus (SLE) with Respect to Individual Ancestry and Clinical Sub-Phenotypes 

      Namjou, Bahram; Kim-Howard, Xana; Sun, Celi; Adler, Adam; Chung, Sharon; Kaufman, Kenneth M.; Kelly, Jennifer A.; Glenn, Stuart B.; Guthridge, Joel M.; Scofield, Robert H.; Kimberly, Robert P.; Brown, Elizabeth E.; Alarcón, Graciela S.; Edberg, Jeffrey C.; Kim, Jae-Hoon; Choi, Jiyoung; Ramsey-Goldman, Rosalind; Petri, Michelle A.; Reveille, John D.; Vilá, Luis M.; Boackle, Susan; Freedman, Barry I.; Tsao, Betty P.; Langefeld, Carl D.; Vyse, Timothy J.; Jacob, Chaim O.; Pons-Estel, Bernardo A.; Niewold, Timothy B.; Moser Sivils, Kathy; Merrill, Joan T.; Anaya, Juan-Manuel; Gilkeson, Gary S.; Gaffney, Patrick M.; Bae, Sang-Cheol; Alarcón-Riquelme, Marta E.; Harley, John B.; Criswell, Lindsey A.; James, Judith A.; Nath, Swapan K.
      Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is a negative regulator of T-cell activation associated with several autoimmune diseases, including systemic lupus erythematosus (SLE). Missense rs2476601 is ...
       Artículo. 2013
    • The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share 

      "Kottyan, Leah C.; Zoller, Erin E.; Bene, Jessica; Lu, Xiaoming; Kelly, Jennifer A.; Rupert, Andrew M.; Lessard, Christopher J.; Vaughn, Samuel E.; Marion, Miranda; Weirauch, Matthew T.; Namjou, Bahram; Adler, Adam; Rasmussen, Astrid; Glenn, Stuart; Montgomery, Courtney G.; Hirschfield, Gideon M.; Xie, Gang; Coltescu, Catalina; Amos, Chris; Li, He; Ice, John A.; Nath, Swapan K.; Mariette, Xavier; Bowman, Simon; Rischmueller, Maureen; Lester, Sue; Brun, Johan G.; Gøransson, Lasse G.; Harboe, Erna; Omdal, Roald; Cunninghame-Graham, Deborah S.; Vyse, Tim; Miceli-Richard, Corinne; Brennan, Michael T.; Lessard, James A.; Wahren-Herlenius, Marie; Kvarnström, Marika; Illei, Gabor G.; Witte, Torsten; Jonsson, Roland; Eriksson, Per; Nordmark, Gunnel; Ng, Wan-Fai; Anaya, Juan-Manuel; Rhodus, Nelson L.; Segal, Barbara M.; Merrill, Joan T.; James, Judith A.; Guthridge, Joel M.; Scofield, R. Hal; Alarcon-Riquelme, Marta; Bae, Sang-Cheol; Boackle, Susan A.; Criswell, Lindsey A.; Gilkeson, Gary; Kamen, Diane L.; Jacob, Chaim O.; Kimberly, Robert; Brown, Elizabeth; Edberg, Jeffrey; Alarcón, Graciela S.; Reveille, John D.; Vilá, Luis M.; Petri, Michelle; Ramsey-Goldman, Rosalind; Freedman, Barry I.; Niewold, Timothy; Stevens, Anne M.; Tsao, Betty P.; Ying, Jun; Mayes, Maureen D.; Gorlova, Olga Y.; Wakeland, Ward; Radstake, Timothy; Martin, Ezequiel; Martin, Javier; Siminovitch, Katherine; Sivils, Kathy L. Moser; Gaffney, Patrick M.; Langefeld, Carl D.; Harley, John B.; Kaufman, Kenneth M."
      "Exploiting genotyping, DNA sequencing, imputation and trans-ancestral mapping, we used Bayesian and frequentist approaches to model the IRF5-TNPO3 locus association, now implicated in two immunotherapies and seven autoimmune ...
       Artículo. 2015
    • Trans-Ancestral Studies Fine Map the SLE-Susceptibility Locus TNFSF4 

      Manku, Harinder; Langefeld, Carl D.; Guerra, Sandra G.; Malik, Talat H.; Alarcón-Riquelme, Marta E.; Anaya, Juan-Manuel; Bae, Sang-Cheol; Boackle, Susan; Brown, Elizabeth E.; Criswell, Lindsey A.; Freedman, Barry I.; Gaffney, Patrick M.; Gregersen, Peter A.; Guthridge, Joel M.; Han, Sang-Hoon; Harley, John B.; Jacob, Chaim O.; James, Judith A.; Kamen, Diane L.; Kaufman, Kenneth M.; Kelly, Jennifer A.; Martin, Javier; Merrill, Joan T.; Moser, Kathy L.; Niewold, Timothy B.; Park, So-Yeon; Pons-Estel, Bernardo A.; Sawalha, Amr H.; Scofield, Robert H.; Shen, Nan; Stevens, Anne M.; Sun, Celi; Gilkeson, Gary S.; Edberg, Jeffrey C.; Kimberly, Robert P.; Nath, Swapan K.; Tsao, Betty P.; Vyse, Timothy J.
      We previously established an 80 kb haplotype upstream of TNFSF4 as a susceptibility locus in the autoimmune disease SLE. SLE-associated alleles at this locus are associated with inflammatory disorders, including atherosclerosis ...
       Artículo. 2013
    • Unique clinical characteristics, autoantibodies and medication use in Native American patients with systemic lupus erythematosus 

      Kheir, Joseph M; Guthridge, Carla J; Johnston, Jonathon R; Adams, Lucas J; Rasmussen, Astrid; Gross, Timothy F; Munroe, Melissa E; Bourn, Rebecka L; Sivils, Kathy L.; Guthridge, Joel M.; Weisman, Michael H.; Wallace, Daniel J.; Anaya, Juan-Manuel; Rojas-Villarraga, Adriana; Jarvis, James N; Harley, John B.; James, Judith A.
      Objective: Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with varied morbidity and mortality. We assessed clinical presentations, autoantibody specificities and therapeutic interventions in Native ...
       Artículo. 2018

       

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