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458 results on '"Remmers, Elaine F."'

1. Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome

Author

Baghdassarian, Hratch, Blackstone, Sarah A, Clay, Owen S, Philips, Rachael, Matthiasardottir, Brynja, Nehrebecky, Michele, Hua, Vivian K, McVicar, Rachael, Liu, Yang, Tucker, Suzanne M, Randazzo, Davide, Deuitch, Natalie, Rosenzweig, Sofia, Mark, Adam, Sasik, Roman, Fisch, Kathleen M, Pimpale Chavan, Pallavi, Eren, Elif, Watts, Norman R, Ma, Chi A, Gadina, Massimo, Schwartz, Daniella M, Sanyal, Anwesha, Werner, Giffin, Murdock, David R, Horita, Nobuyuki, Chowdhury, Shimul, Dimmock, David, Jepsen, Kristen, Remmers, Elaine F, Goldbach-Mansky, Raphaela, Gahl, William A, O'Shea, John J, Milner, Joshua D, Lewis, Nathan E, Chang, Johanna, Kastner, Daniel L, Torok, Kathryn, Oda, Hirotsugu, Putnam, Christopher D, and Broderick, Lori

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Human Genome, 2.1 Biological and endogenous factors, Inflammatory and immune system, Janus Kinases, Nitriles, Pyrazoles, Pyrimidines, Scleroderma, Systemic, Autoimmune Diseases, Mutation, Missense, Gain of Function Mutation, Dermatologic Agents, Anti-Inflammatory Agents, Medical and Health Sciences, General & Internal Medicine, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundDisabling pansclerotic morphea (DPM) is a rare systemic inflammatory disorder, characterized by poor wound healing, fibrosis, cytopenias, hypogammaglobulinemia, and squamous-cell carcinoma. The cause is unknown, and mortality is high.MethodsWe evaluated four patients from three unrelated families with an autosomal dominant pattern of inheritance of DPM. Genomic sequencing independently identified three heterozygous variants in a specific region of the gene that encodes signal transducer and activator of transcription 4 (STAT4). Primary skin fibroblast and cell-line assays were used to define the functional nature of the genetic defect. We also assayed gene expression using single-cell RNA sequencing of peripheral-blood mononuclear cells to identify inflammatory pathways that may be affected in DPM and that may respond to therapy.ResultsGenome sequencing revealed three novel heterozygous missense gain-of-function variants in STAT4. In vitro, primary skin fibroblasts showed enhanced interleukin-6 secretion, with impaired wound healing, contraction of the collagen matrix, and matrix secretion. Inhibition of Janus kinase (JAK)-STAT signaling with ruxolitinib led to improvement in the hyperinflammatory fibroblast phenotype in vitro and resolution of inflammatory markers and clinical symptoms in treated patients, without adverse effects. Single-cell RNA sequencing revealed expression patterns consistent with an immunodysregulatory phenotype that were appropriately modified through JAK inhibition.ConclusionsGain-of-function variants in STAT4 caused DPM in the families that we studied. The JAK inhibitor ruxolitinib attenuated the dermatologic and inflammatory phenotype in vitro and in the affected family members. (Funded by the American Academy of Allergy, Asthma, and Immunology Foundation and others.).

Published
2023

2. HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry

Author

Gourh, Pravitt, Safran, Sarah A, Alexander, Theresa, Boyden, Steven E, Morgan, Nadia D, Shah, Ami A, Mayes, Maureen D, Doumatey, Ayo, Bentley, Amy R, Shriner, Daniel, Domsic, Robyn T, Medsger, Thomas A, Ramos, Paula S, Silver, Richard M, Steen, Virginia D, Varga, John, Hsu, Vivien, Saketkoo, Lesley Ann, Schiopu, Elena, Khanna, Dinesh, Gordon, Jessica K, Kron, Brynn, Criswell, Lindsey A, Gladue, Heather, Derk, Chris T, Bernstein, Elana J, Bridges, S Louis, Shanmugam, Victoria K, Kolstad, Kathleen D, Chung, Lorinda, Kafaja, Suzanne, Jan, Reem, Trojanowski, Marcin, Goldberg, Avram, Korman, Benjamin D, Steinbach, Peter J, Chandrasekharappa, Settara C, Mullikin, James C, Adeyemo, Adebowale, Rotimi, Charles, Wigley, Fredrick M, Kastner, Daniel L, Boin, Francesco, and Remmers, Elaine F

Subjects
Biomedical and Clinical Sciences, Immunology, Autoimmune Disease, Rare Diseases, Biotechnology, Minority Health, Genetics, Scleroderma, Clinical Research, 2.1 Biological and endogenous factors, Inflammatory and immune system, Black or African American, Alleles, Amino Acid Sequence, Antigens, Viral, Autoantibodies, Autoantigens, Computational Biology, Datasets as Topic, Female, Genetic Predisposition to Disease, HLA Antigens, Humans, Male, Mimiviridae, Molecular Mimicry, Phycodnaviridae, Protein Structure, Secondary, Risk Assessment, Scleroderma, Systemic, Sequence Homology, Amino Acid, White People, scleroderma, HLA, autoantibodies, molecular mimicry, mimivirus
Abstract

Systemic sclerosis (SSc) is a clinically heterogeneous autoimmune disease characterized by mutually exclusive autoantibodies directed against distinct nuclear antigens. We examined HLA associations in SSc and its autoantibody subsets in a large, newly recruited African American (AA) cohort and among European Americans (EA). In the AA population, the African ancestry-predominant HLA-DRB1*08:04 and HLA-DRB1*11:02 alleles were associated with overall SSc risk, and the HLA-DRB1*08:04 allele was strongly associated with the severe antifibrillarin (AFA) antibody subset of SSc (odds ratio = 7.4). These African ancestry-predominant alleles may help explain the increased frequency and severity of SSc among the AA population. In the EA population, the HLA-DPB1*13:01 and HLA-DRB1*07:01 alleles were more strongly associated with antitopoisomerase (ATA) and anticentromere antibody-positive subsets of SSc, respectively, than with overall SSc risk, emphasizing the importance of HLA in defining autoantibody subtypes. The association of the HLA-DPB1*13:01 allele with the ATA+ subset of SSc in both AA and EA patients demonstrated a transancestry effect. A direct correlation between SSc prevalence and HLA-DPB1*13:01 allele frequency in multiple populations was observed (r = 0.98, P = 3 × 10-6). Conditional analysis in the autoantibody subsets of SSc revealed several associated amino acid residues, mostly in the peptide-binding groove of the class II HLA molecules. Using HLA α/β allelic heterodimers, we bioinformatically predicted immunodominant peptides of topoisomerase 1, fibrillarin, and centromere protein A and discovered that they are homologous to viral protein sequences from the Mimiviridae and Phycodnaviridae families. Taken together, these data suggest a possible link between HLA alleles, autoantibodies, and environmental triggers in the pathogenesis of SSc.

Published
2020

3. Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis

Author

The Genomic Ascertainment Cohort, Manthiram, Kalpana, Preite, Silvia, Dedeoglu, Fatma, Demir, Selcan, Ozen, Seza, Edwards, Kathryn M., Lapidus, Sivia, Katz, Alexander E., Feder, Henry M., Lawton, Maranda, Licameli, Greg R., Wright, Peter F., Le, Julie, Barron, Karyl S., Ombrello, Amanda K., Barham, Beverly, Romeo, Tina, Jones, Anne, Srinivasalu, Hemalatha, Mudd, Pamela A., DeBiasi, Roberta L., Gül, Ahmet, Marshall, Gary S., Jones, Olcay Y., Chandrasekharappa, Settara C., Stepanovskiy, Yuriy, Ferguson, Polly J., Schwartzberg, Pamela L., Remmers, Elaine F., and Kastner, Daniel L.

Published
2020

4. Clinical and serological features of systemic sclerosis in a multicenter African American cohort

Author

Morgan, Nadia D, Shah, Ami A, Mayes, Maureen D, Domsic, Robyn T, Medsger, Thomas A, Steen, Virginia D, Varga, John, Carns, Mary, Ramos, Paula S, Silver, Richard M, Schiopu, Elena, Khanna, Dinesh, Hsu, Vivien, Gordon, Jessica K, Gladue, Heather, Saketkoo, Lesley A, Criswell, Lindsey A, Derk, Chris T, Trojanowski, Marcin A, Shanmugam, Victoria K, Chung, Lorinda, Valenzuela, Antonia, Jan, Reem, Goldberg, Avram, Remmers, Elaine F, Kastner, Daniel L, Wigley, Fredrick M, Gourh, Pravitt, and Boin, Francesco

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Lung, Autoimmune Disease, Rare Diseases, Scleroderma, Clinical Research, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Inflammatory and immune system, Adult, Black or African American, Chromosome Mapping, Cohort Studies, Cross-Sectional Studies, Databases, Factual, Female, Humans, Male, Prevalence, Prospective Studies, Retrospective Studies, Scleroderma, Systemic, Severity of Illness Index, Socioeconomic Factors, United States, African Americans, autoantibodies, systemic sclerosis
Abstract

Racial differences exist in the severity of systemic sclerosis (SSc). To enhance our knowledge about SSc in African Americans, we established a comprehensive clinical database from the largest multicenter cohort of African American SSc patients assembled to date (the Genome Research in African American Scleroderma Patients (GRASP) cohort).African American SSc patients were enrolled retrospectively and prospectively over a 30-year period (1987-2016), from 18 academic centers throughout the United States. The cross-sectional prevalence of sociodemographic, clinical, and serological features was evaluated. Factors associated with clinically significant manifestations of SSc were assessed using multivariate logistic regression analyses.The study population included a total of 1009 African American SSc patients, comprised of 84% women. In total, 945 (94%) patients met the 2013 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) classification criteria for SSc, with the remaining 64 (6%) meeting the 1980 ACR or CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia) criteria. While 43% were actively employed, 33% required disability support. The majority (57%) had the more severe diffuse subtype and a young age at symptom onset (39.1 ± 13.7 years), in marked contrast to that reported in cohorts of predominantly European ancestry. Also, 1 in 10 patients had a severe Medsger cardiac score of 4. Pulmonary fibrosis evident on computed tomography (CT) chest was present in 43% of patients and was significantly associated with anti-topoisomerase I positivity. 38% of patients with CT evidence of pulmonary fibrosis had a severe restrictive ventilator defect, forced vital capacity (FVC) ≤50% predicted. A significant association was noted between longer disease duration and higher odds of pulmonary hypertension, telangiectasia, and calcinosis. The prevalence of potentially fatal scleroderma renal crisis was 7%, 3.5 times higher than the 2% prevalence reported in the European League Against Rheumatism Scleroderma Trials and Research (EUSTAR) cohort.Our study emphasizes the unique and severe disease burden of SSc in African Americans compared to those of European ancestry.

Published
2017

5. Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis

Author

Park, Yong Hwan, Remmers, Elaine F., Lee, Wonyong, Ombrello, Amanda K., Chung, Lawton K., Shilei, Zhao, Stone, Deborah L., Ivanov, Maya I., Loeven, Nicole A., Barron, Karyl S., Hoffmann, Patrycja, Nehrebecky, Michele, Akkaya-Ulum, Yeliz Z., Sag, Erdal, Balci-Peynircioglu, Banu, Aksentijevich, Ivona, Gül, Ahmet, Rotimi, Charles N., Chen, Hua, Bliska, James B., Ozen, Seza, Kastner, Daniel L., Shriner, Daniel, and Chae, Jae Jin

Published
2020
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6. Effective Sample Size: Quick Estimation of the Effect of Related Samples in Genetic Case-Control Association Analyses

Author

Yang, Yaning, Remmers, Elaine F., Ogunwole, Chukwuma B., Kastner, Daniel L., Gregersen, Peter K., and Li, Wentian

Subjects
Quantitative Biology - Quantitative Methods
Abstract

Affected relatives are essential for pedigree linkage analysis, however, they cause a violation of the independent sample assumption in case-control association studies. To avoid the correlation between samples, a common practice is to take only one affected sample per pedigree in association analysis. Although several methods exist in handling correlated samples, they are still not widely used in part because these are not easily implemented, or because they are not widely known. We advocate the effective sample size method as a simple and accessible approach for case-control association analysis with correlated samples. This method modifies the chi-square test statistic, p-value, and 95% confidence interval of the odds-ratio by replacing the apparent number of allele or genotype counts with the effective ones in the standard formula, without the need for specialized computer programs. We present a simple formula for calculating effective sample size for many types of relative pairs and relative sets. For allele frequency estimation, the effective sample size method captures the variance inflation exactly. For genotype frequency, simulations showed that effective sample size provides a satisfactory approximation. A gene which is previously identified as a type 1 diabetes susceptibility locus, the interferon-induced helicase gene (IFIH1), is shown to be significantly associated with rheumatoid arthritis when the effective sample size method is applied. This significant association is not established if only one affected sib per pedigree were used in the association analysis. Relationship between the effective sample size method and other methods -- the generalized estimation equation, variance of eigenvalues for correlation matrices, and genomic controls -- are discussed., Comment: 3 figures

Published
2006
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7. REL, encoding a member of the NF-κB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis

Author

Gregersen, Peter K, Amos, Chistopher I, Lee, Annette T, Lu, Yue, Remmers, Elaine F, Kastner, Daniel L, Seldin, Michael F, Criswell, Lindsey A, Plenge, Robert M, Holers, V Michael, Mikuls, Ted R, Sokka, Tuulikki, Moreland, Larry W, Bridges, S Louis, Xie, Gang, Begovich, Ann B, and Siminovitch, Katherine A

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Clinical Research, Rheumatoid Arthritis, Autoimmune Disease, Arthritis, Inflammatory and immune system, Arthritis, Rheumatoid, Genes, rel, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

We conducted a genome-wide association study of rheumatoid arthritis in 2,418 cases and 4,504 controls from North America and identified an association at the REL locus, encoding c-Rel, on chromosome 2p13 (rs13031237, P = 6.01 x 10(-10)). Replication in independent case-control datasets comprising 2,604 cases and 2,882 controls confirmed this association, yielding an allelic OR = 1.25 (P = 3.08 x 10(-14)) for marker rs13031237 and an allelic OR = 1.21 (P = 2.60 x 10(-11)) for marker rs13017599 in the combined dataset. The combined dataset also provides definitive support for associations at both CTLA4 (rs231735; OR = 0.85; P = 6.25 x 10(-9)) and BLK (rs2736340; OR = 1.19; P = 5.69 x 10(-9)). c-Rel is an NF-kappaB family member with distinct functional properties in hematopoietic cells, and its association with rheumatoid arthritis suggests disease pathways that involve other recently identified rheumatoid arthritis susceptibility genes including CD40, TRAF1, TNFAIP3 and PRKCQ.

Published
2009

8. REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

Author

Gregersen, Peter K, Amos, Chistopher I, Lee, Annette T, Lu, Yue, Remmers, Elaine F, Kastner, Daniel L, Seldin, Michael F, Criswell, Lindsey A, Plenge, Robert M, Holers, V Michael, Mikuls, Ted R, Sokka, Tuulikki, Moreland, Larry W, Bridges, S Louis, Xie, Gang, Begovich, Ann B, and Siminovitch, Katherine A

Subjects
Humans, Arthritis, Rheumatoid, Polymorphism, Single Nucleotide, Genes, rel, Genome-Wide Association Study, Arthritis, Rheumatoid, Polymorphism, Single Nucleotide, Genes, rel, Developmental Biology, Biological Sciences, Medical and Health Sciences
Abstract

We conducted a genome-wide association study of rheumatoid arthritis in 2,418 cases and 4,504 controls from North America and identified an association at the REL locus, encoding c-Rel, on chromosome 2p13 (rs13031237, P = 6.01 x 10(-10)). Replication in independent case-control datasets comprising 2,604 cases and 2,882 controls confirmed this association, yielding an allelic OR = 1.25 (P = 3.08 x 10(-14)) for marker rs13031237 and an allelic OR = 1.21 (P = 2.60 x 10(-11)) for marker rs13017599 in the combined dataset. The combined dataset also provides definitive support for associations at both CTLA4 (rs231735; OR = 0.85; P = 6.25 x 10(-9)) and BLK (rs2736340; OR = 1.19; P = 5.69 x 10(-9)). c-Rel is an NF-kappaB family member with distinct functional properties in hematopoietic cells, and its association with rheumatoid arthritis suggests disease pathways that involve other recently identified rheumatoid arthritis susceptibility genes including CD40, TRAF1, TNFAIP3 and PRKCQ.

Published
2009

9. Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis

Author

Meguro, Akira, Ishihara, Mami, Petrek, Martin, Yamamoto, Ken, Takeuchi, Masaki, Mrazek, Frantisek, Kolek, Vitezslav, Benicka, Alzbeta, Yamane, Takahiro, Shibuya, Etsuko, Yoshino, Atsushi, Isomoto, Akiko, Ota, Masao, Yatsu, Keisuke, Shijubo, Noriharu, Nagai, Sonoko, Yamaguchi, Etsuro, Yamaguchi, Tetsuo, Namba, Kenichi, Kaburaki, Toshikatsu, Takase, Hiroshi, Morimoto, Shin-ichiro, Hori, Junko, Kono, Keiko, Goto, Hiroshi, Suda, Takafumi, Ikushima, Soichiro, Ando, Yasutaka, Takenaka, Shinobu, Takeuchi, Masaru, Yuasa, Takenosuke, Sugisaki, Katsunori, Ohguro, Nobuyuki, Hiraoka, Miki, Kitaichi, Nobuyoshi, Sugiyama, Yukihiko, Horita, Nobuyuki, Asukata, Yuri, Kawagoe, Tatsukata, Kimura, Ikuko, Ishido, Mizuho, Inoko, Hidetoshi, Mochizuki, Manabu, Ohno, Shigeaki, Bahram, Seiamak, Remmers, Elaine F., Kastner, Daniel L., and Mizuki, Nobuhisa

Published
2020
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10. Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

Author

Zhou, Qing, Yu, Xiaomin, Demirkaya, Erkan, Deuitch, Natalie, Stone, Deborah, Tsai, Wanxia Li, Kuehn, Hye Sun, Wang, Hongying, Yang, Dan, Park, Yong Hwan, Ombrello, Amanda K., Blake, Mary, Romeo, Tina, Remmers, Elaine F., Chae, Jae Jin, Mullikin, James C., Güzel, Ferhat, Milner, Joshua D., Boehm, Manfred, Rosenzweig, Sergio D., Gadina, Massimo, Welch, Steven B., Özen, Seza, Topaloglu, Rezan, Abinun, Mario, Kastner, Daniel L., and Aksentijevich, Ivona

Published
2016

11. Data from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors

Author

Horvath, Anelia, primary, Korde, Larissa, primary, Greene, Mark H., primary, Libe, Rossella, primary, Osorio, Paulo, primary, Faucz, Fabio Rueda, primary, Raffin-Sanson, Marie Laure, primary, Tsang, Kit Man, primary, Drori-Herishanu, Limor, primary, Patronas, Yianna, primary, Remmers, Elaine F., primary, Nikita, Maria Eleni, primary, Moran, Jason, primary, Greene, Joseph, primary, Nesterova, Maria, primary, Merino, Maria, primary, Bertherat, Jerome, primary, and Stratakis, Constantine A., primary

Published
2023
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12. Supplementary Table 1 from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors

Author

Horvath, Anelia, primary, Korde, Larissa, primary, Greene, Mark H., primary, Libe, Rossella, primary, Osorio, Paulo, primary, Faucz, Fabio Rueda, primary, Raffin-Sanson, Marie Laure, primary, Tsang, Kit Man, primary, Drori-Herishanu, Limor, primary, Patronas, Yianna, primary, Remmers, Elaine F., primary, Nikita, Maria Eleni, primary, Moran, Jason, primary, Greene, Joseph, primary, Nesterova, Maria, primary, Merino, Maria, primary, Bertherat, Jerome, primary, and Stratakis, Constantine A., primary

Published
2023
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13. Supplementary Figure 1 from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population

Author

Horvath, Anelia, primary, Giatzakis, Christoforos, primary, Robinson-White, Audrey, primary, Boikos, Sosipatros, primary, Levine, Elizabeth, primary, Griffin, Kurt, primary, Stein, Erica, primary, Kamvissi, Virginia, primary, Soni, Payal, primary, Bossis, Ioannis, primary, de Herder, Wouter, primary, Carney, J. Aidan, primary, Bertherat, Jérôme, primary, Gregersen, Peter K., primary, Remmers, Elaine F., primary, and Stratakis, Constantine A., primary

Published
2023
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14. Data from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population

Author

Horvath, Anelia, primary, Giatzakis, Christoforos, primary, Robinson-White, Audrey, primary, Boikos, Sosipatros, primary, Levine, Elizabeth, primary, Griffin, Kurt, primary, Stein, Erica, primary, Kamvissi, Virginia, primary, Soni, Payal, primary, Bossis, Ioannis, primary, de Herder, Wouter, primary, Carney, J. Aidan, primary, Bertherat, Jérôme, primary, Gregersen, Peter K., primary, Remmers, Elaine F., primary, and Stratakis, Constantine A., primary

Published
2023
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15. Supplementary Figure Legend from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population

Author

Horvath, Anelia, primary, Giatzakis, Christoforos, primary, Robinson-White, Audrey, primary, Boikos, Sosipatros, primary, Levine, Elizabeth, primary, Griffin, Kurt, primary, Stein, Erica, primary, Kamvissi, Virginia, primary, Soni, Payal, primary, Bossis, Ioannis, primary, de Herder, Wouter, primary, Carney, J. Aidan, primary, Bertherat, Jérôme, primary, Gregersen, Peter K., primary, Remmers, Elaine F., primary, and Stratakis, Constantine A., primary

Published
2023
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16. Supplementary Materials & Methods from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population

Author

Horvath, Anelia, primary, Giatzakis, Christoforos, primary, Robinson-White, Audrey, primary, Boikos, Sosipatros, primary, Levine, Elizabeth, primary, Griffin, Kurt, primary, Stein, Erica, primary, Kamvissi, Virginia, primary, Soni, Payal, primary, Bossis, Ioannis, primary, de Herder, Wouter, primary, Carney, J. Aidan, primary, Bertherat, Jérôme, primary, Gregersen, Peter K., primary, Remmers, Elaine F., primary, and Stratakis, Constantine A., primary

Published
2023
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17. Supplementary Table 1 from Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population

Author

Horvath, Anelia, primary, Giatzakis, Christoforos, primary, Robinson-White, Audrey, primary, Boikos, Sosipatros, primary, Levine, Elizabeth, primary, Griffin, Kurt, primary, Stein, Erica, primary, Kamvissi, Virginia, primary, Soni, Payal, primary, Bossis, Ioannis, primary, de Herder, Wouter, primary, Carney, J. Aidan, primary, Bertherat, Jérôme, primary, Gregersen, Peter K., primary, Remmers, Elaine F., primary, and Stratakis, Constantine A., primary

Published
2023
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18. Supplementary Table 2 from Functional Phosphodiesterase 11A Mutations May Modify the Risk of Familial and Bilateral Testicular Germ Cell Tumors

Author

Horvath, Anelia, primary, Korde, Larissa, primary, Greene, Mark H., primary, Libe, Rossella, primary, Osorio, Paulo, primary, Faucz, Fabio Rueda, primary, Raffin-Sanson, Marie Laure, primary, Tsang, Kit Man, primary, Drori-Herishanu, Limor, primary, Patronas, Yianna, primary, Remmers, Elaine F., primary, Nikita, Maria Eleni, primary, Moran, Jason, primary, Greene, Joseph, primary, Nesterova, Maria, primary, Merino, Maria, primary, Bertherat, Jerome, primary, and Stratakis, Constantine A., primary

Published
2023
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20. A polymorphism in CCR1/CCR3 is associated with narcolepsy

Author

Toyoda, Hiromi, Miyagawa, Taku, Koike, Asako, Kanbayashi, Takashi, Imanishi, Aya, Sagawa, Yohei, Kotorii, Nozomu, Kotorii, Tatayu, Hashizume, Yuji, Ogi, Kimihiro, Hiejima, Hiroshi, Kamei, Yuichi, Hida, Akiko, Miyamoto, Masayuki, Imai, Makoto, Fujimura, Yota, Tamura, Yoshiyuki, Ikegami, Azusa, Wada, Yamato, Moriya, Shunpei, Furuya, Hirokazu, Takeuchi, Masaki, Kirino, Yohei, Meguro, Akira, Remmers, Elaine F, Kawamura, Yoshiya, Otowa, Takeshi, Miyashita, Akinori, Kashiwase, Koichi, Khor, Seik-Soon, Yamasaki, Maria, Kuwano, Ryozo, Sasaki, Tsukasa, Ishigooka, Jun, Kuroda, Kenji, Kume, Kazuhiko, Chiba, Shigeru, Yamada, Naoto, Okawa, Masako, Hirata, Koichi, Mizuki, Nobuhisa, Uchimura, Naohisa, Shimizu, Tetsuo, Inoue, Yuichi, Honda, Yutaka, Mishima, Kazuo, Honda, Makoto, and Tokunaga, Katsushi

Published
2015
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21. HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

Author

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, International Childhood Arthritis Genetics (INCHARGE) Consortium, Ombrello, Michael J., Remmers, Elaine F., Tachmazidou, Ioanna, Grom, Alexei, Foell, Dirk, Haas, Johannes-Peter, Martini, Alberto, Gattorno, Marco, Özen, Seza, Prahalad, Sampath, Zeft, Andrew S., Bohnsack, John F., Mellins, Elizabeth D., Ilowite, Norman T., Russo, Ricardo, Len, Claudio, Hilario, Maria Odete E., Oliveira, Sheila, Yeung, Rae S.M., Rosenberg, Alan, Wedderburn, Lucy R., Anton, Jordi, Schwarz, Tobias, Hinks, Anne, Bilginer, Yelda, Park, Jane, Cobb, Joanna, Satorius, Colleen L., Han, Buhm, Baskin, Elizabeth, Signa, Sara, Duerr, Richard H., Achkar, J. P., Kamboh, M. Ilyas, Kaufman, Kenneth M., Kottyan, Leah C., Pinto, Dalila, Scherer, Stephen W., Alarcón-Riquelme, Marta E., Docampo, Elisa, Estivill, Xavier, Gül, Ahmet, de Bakker, Paul I. W., Raychaudhuri, Soumya, Langefeld, Carl D., Thompson, Susan, Zeggini, Eleftheria, Thomson, Wendy, Kastner, Daniel L., and Woo, Patricia

Published
2015

24. Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease

Author

Kirino, Yohei, Zhou, Qing, Ishigatsubo, Yoshiaki, Mizuki, Nobuhisa, Tugal-Tutkun, Ilknur, Seyahi, Emire, Özyazgan, Yilmaz, Ugurlu, Serdal, Erer, Burak, Abaci, Neslihan, Ustek, Duran, Meguro, Akira, Ueda, Atsuhisa, Takeno, Mitsuhiro, Inoko, Hidetoshi, Ombrello, Michael J., Satorius, Colleen L., Maskeri, Baishali, Mullikin, James C., Sun, Hong-Wei, Gutierrez-Cruz, Gustavo, Kim, Yoonhee, Wilson, Alexander F., Kastner, Daniel L., Gül, Ahmet, and Remmers, Elaine F.

Published
2013

25. Genetic Factors Involved in Central Nervous System/Immune Interactions

Author

Wilder, Ronald L., Griffiths, Marie M., Cannon, Grant W., Caspi, Rachel, Gulko, Percio S., Remmers, Elaine F., Back, Nathan, editor, Cohen, Irun R., editor, Kritchevsky, David, editor, Lajtha, Abel, editor, Paoletti, Rodolfo, editor, Friedman, Herman, editor, Klein, Thomas W., editor, and Madden, John J., editor

Published
2001
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26. Brief Report: Deficiency of Complement 1r Subcomponent in Early‐Onset Systemic Lupus Erythematosus: The Role of Disease‐Modifying Alleles in a Monogenic Disease

Author

Demirkaya, Erkan, Zhou, Qing, Smith, Carolyne K., Ombrello, Michael J., Deuitch, Natalie, Tsai, Wanxia L., Hoffmann, Patrycja, Remmers, Elaine F., Takeuchi, Masaki, Park, Yong Hwan, Chae, JaeJin, Barut, Kenan, Simsek, Dogan, Adrovic, Amra, Sahin, Sezgin, Caliskan, Salim, Chandrasekharappa, Settara C., Hasni, Sarfaraz A., Ombrello, Amanda K., Gadina, Massimo, Kastner, Daniel L., Kaplan, Mariana J., Kasapcopur, Ozgur, and Aksentijevich, Ivona

Published
2017
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28. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

Author

Brehm, Anja, Liu, Yin, Sheikh, Afzal, Marrero, Bernadette, Omoyinmi, Ebun, Zhou, Qing, Montealegre, Gina, Biancotto, Angelique, Reinhardt, Adam, Almeida de Jesus, Adriana, Pelletier, Martin, Tsai, Wanxia L., Remmers, Elaine F., Kardava, Lela, Hill, Suvimol, Kim, Hanna, Lachmann, Helen J., Megarbane, Andre, Chae, Jae Jin, Brady, Jilian, Castillo, Rhina D., Brown, Diane, Casano, Angel Vera, Gao, Ling, Chapelle, Dawn, Huang, Yan, Stone, Deborah, Chen, Yongqing, Sotzny, Franziska, Lee, Chyi-Chia Richard, Kastner, Daniel L., Torrelo, Antonio, Zlotogorski, Abraham, Moir, Susan, Gadina, Massimo, McCoy, Phil, Wesley, Robert, Rother, Kristina, Hildebrand, Peter W., Brogan, Paul, Krüger, Elke, Aksentijevich, Ivona, and Goldbach-Mansky, Raphaela

Published
2015
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31. Contributors

Author

Abdellatif, Engy, primary, Abeles, Aryeh M., additional, Abelson, Abby G., additional, Abhishek, Abhishek, additional, Abramson, Steven B., additional, Adachi, Jonathan D., additional, Adams, Michael A., additional, Aigner, Thomas, additional, Akira, Shizuo, additional, Aletaha, Daniel, additional, Aliprantis, Antonios O., additional, Almeida de Jesus, Adriana, additional, Altman, Roy D., additional, Amigo, Mary-Carmen, additional, Aringer, Martin, additional, Ascherman, Dana P., additional, Assassi, Shervin, additional, Atamas, Sergei P., additional, Azevedo, Pedro Ming, additional, Baer, Alan N., additional, Baeten, Dominique, additional, Baines, Colin, additional, Baker, Nancy A., additional, Balogh, Emese, additional, Balsa, Alejandro, additional, Baraliakos, Xenofon, additional, Bardin, Thomas, additional, Barnsley, Les, additional, Bathon, Joan M., additional, Bauch, Angela, additional, Belch, Jill J.F., additional, Bellamy, Nicholas, additional, Bellido, Teresita, additional, Benjamin, Michael, additional, Beresford, Michael W., additional, Berman, Brian, additional, Bermas, Bonnie Lee, additional, Bertsias, George, additional, Bilezikian, John P., additional, Bilginer, Yelda, additional, Birnbaum, Julius, additional, Bishop, Felicity L., additional, Bleasel, Jane F., additional, Böhm, Markus, additional, Bolster, Marcy B., additional, Bombardieri, Stefano, additional, Bonelli, Michael, additional, Bonnick, Sydney L., additional, Boumpas, Dimitrios T., additional, Bozec, Aline, additional, Brasington, Richard D., additional, Braun, Juergen, additional, Brown, Matthew A., additional, Bruce, Ian N., additional, Bugbee, William D., additional, Bukhari, Marwan A.S., additional, Burgos-Vargas, Rubén, additional, Burmester, Gerd-Rüdiger, additional, Burns, Jane C., additional, Burr, David B., additional, Buttgereit, Frank, additional, Bykerk, Vivian P., additional, Calabrese, Leonard H., additional, Callen, Jeffrey P., additional, Cavallo, Sabrina, additional, Cawston, Tim E., additional, Chandran, Vinod, additional, Chard, Michael Denis, additional, Chaudhary, Prateek, additional, Chen, Lan X., additional, Choi, Hyon K., additional, Choy, Ernest H., additional, Christopher-Stine, Lisa, additional, Chu, Alvina D., additional, Clauw, Daniel J., additional, Clements, Philip J., additional, Clowse, Megan E.B., additional, Coghlan, J. Gerry, additional, Conaghan, Philip G., additional, Cooper, Cyrus, additional, Costenbader, Karen H., additional, Creamer, Paul, additional, Crispín, José C., additional, Cronstein, Bruce N., additional, Cross, Raymond, additional, Cusano, Natalie E., additional, Cutolo, Maurizio, additional, D'Adamo, Chris, additional, D'Agati, Vivette, additional, D'Cruz, David P., additional, Dagfinrud, Hanne, additional, Daikh, David I., additional, Dalbeth, Nicola, additional, Dalton, Seamus E., additional, Dass, Shouvik, additional, Davis, Aileen M., additional, De Ceulaer, Karel, additional, Deal, Chad L., additional, Deane, Kevin D., additional, Della Rossa, Alessandra, additional, Dellaripa, Paul F., additional, Dennison, Elaine, additional, Denton, Christopher P., additional, Dieppe, Paul, additional, Doherty, Michael, additional, Dolan, Patricia, additional, Donn, Rachelle, additional, Dvorkina, Olga, additional, Dyer, George S.M., additional, Eastell, Richard, additional, Edwards, N. Lawrence, additional, Emery, Paul, additional, Erturan, Gurhan, additional, Espinoza, Luis R., additional, Eyre, Steve, additional, Fanouriakis, Antonios C., additional, Farber, Joshua, additional, Farrokhi, Shawn, additional, Fasth, Anders, additional, Feist, Eugen, additional, Feldman, Debbie, additional, Felson, David T., additional, Fisk, John D., additional, Fitzgerald, G. Kelley, additional, Flores, Raymond H., additional, Fox, David A., additional, Francomano, Clair A., additional, Frangos, Jennifer, additional, Freemont, Anthony J., additional, Fricka, Kevin B., additional, Furst, Daniel E., additional, Gabay, Cem, additional, Gadina, Massimo, additional, Gaston, J.S. Hill, additional, Gay, Steffen, additional, Gensler, Lianne S., additional, Geraldino-Pardilla, Laura, additional, Gerlag, Danielle M., additional, Ginzler, Ellen M., additional, Gizinski, Alison M., additional, Gladman, Dafna D., additional, Gold, Garry E., additional, Goldbach-Mansky, Raphaela, additional, Goldingay, Sarah, additional, Gordon, Sharon M., additional, Gorodkin, Rachel, additional, Goronzy, Jörg J., additional, Görtz, Simon, additional, Grahame, Rodney, additional, Grainger, Andrew J., additional, Gravallese, Ellen M., additional, Greenberg, Jeffrey D., additional, Gujar, Bansari, additional, Hagan, Matilda, additional, Hagley, Karlene, additional, Hakim, Alan J., additional, Hall, John C., additional, Hamuryudan, Vedat, additional, Hanly, John G., additional, Hanson, Eric P., additional, Haraoui, Boulos, additional, Harley, John B., additional, Hashkes, Philip J., additional, Hawker, Gillian A., additional, Hawkins, Philip N., additional, Heiberg, Turid, additional, Heinegård, Dick, additional, Helfgott, Simon M., additional, Ho, Pauline Y.P., additional, Hochberg, Marc C., additional, Hochman, Jacqueline, additional, Hodgkiss-Harlow, Chelsea J., additional, Hoffman, Robert W., additional, Hoffmann, Markus, additional, Holers, V. Michael, additional, Holick, Michael F., additional, Holroyd, Christopher, additional, Hübscher, Osvaldo, additional, Hunter, David J., additional, Husni, M. Elaine, additional, Inman, Robert D., additional, Isaac, Zacharia, additional, Iversen, Maura D., additional, Jabs, Douglas A., additional, Jackson, William, additional, Jaimungal, Sarada, additional, James, Judith A., additional, Javier, Rose-Marie, additional, Johnsen, Alyssa K., additional, Jordan, Joanne M., additional, Kaisho, Tsuneyasu, additional, Kallenberg, Cees G.M., additional, Kane, David, additional, Kapoor, Mohit, additional, Karlson, Elizabeth W., additional, Kassimos, Dimitrios G., additional, Kastner, Daniel L., additional, Katz, Jeffrey N., additional, Kay, Jonathan, additional, Kelly, Jennifer A., additional, Keystone, Edward, additional, Khamashta, Munther A., additional, Khanna, Dinesh, additional, Kjeken, Ingvild, additional, Koch, Alisa E., additional, Koff, Matthew F., additional, Kottyan, Leah, additional, Koutsogeorgopoulou, Loukia A., additional, Kraus, Virginia Byers, additional, Kumar, Pradeep, additional, Kvien, Tore K., additional, Lafyatis, Robert, additional, Landewé, Robert B.M., additional, Langford, Carol A., additional, Lau, Arthur N., additional, Laxer, Ronald M., additional, Learch, Thomas J., additional, Lewith, George, additional, Li, Yi, additional, Liao, Katherine P., additional, Littlejohn, Geoffrey, additional, Lorenzo, Pilar, additional, Luger, Thomas A., additional, Lundberg, Ingrid E., additional, Lundberg, Karin, additional, Machold, Klaus P., additional, MacKenzie, C. Ronald, additional, Mahr, Alfred D., additional, Manheimer, Eric, additional, Marini, Joan C., additional, Marquez, Javier, additional, Marsden, Debbie, additional, Martel-Pelletier, Johanne, additional, Martín-Mola, Emilio, additional, Martínez-Lavín, Manuel, additional, Massarotti, Elena M., additional, Matteson, Eric L., additional, Matzat, Stephen J., additional, Mayahi, Reza, additional, Mayes, Maureen Davidica, additional, McAlindon, Timothy, additional, McBain, Hayley, additional, McCarberg, Bill, additional, McCarthy, Edward F., additional, McCarthy, Geraldine, additional, McDermott, Michael F., additional, McGonagle, Dennis, additional, McLean, Lachy, additional, Merkel, Peter A., additional, Mikdashi, Jamal A., additional, Miller, Frederick W., additional, Miller, Paul D., additional, Minden, Kirsten, additional, Monach, Paul A., additional, Mulligan, Kathleen, additional, Namur, Gauthier, additional, Naredo, Esperanza, additional, Naylor, Kim E., additional, Nelson, Amanda E., additional, Newman, Stanton P., additional, Nordal, Ellen, additional, Nöth, Ulrich, additional, Ntatsaki, Eleana, additional, O'Shea, John J., additional, Oddis, Chester V., additional, Olivé, Alejandro, additional, Omair, Mohammed A., additional, Ombrello, Michael J., additional, Omisade, Antonina, additional, Ong, Voon H., additional, Önnerfjord, Patrik, additional, Orcel, Philippe, additional, Ospelt, Caroline, additional, Ozen, Seza, additional, Paget, Stephen A., additional, Patel, Dipak R., additional, Patrono, Carlo, additional, Pelletier, Jean-Pierre, additional, Pereira, Rosa Maria Rodrigues, additional, Pilkington, Clarissa A., additional, Pillinger, Michael H., additional, Pineda, Carlos, additional, Plenge, Robert M., additional, Price, Andrew, additional, Pricop, Luminita, additional, Rackwitz, Lars, additional, Ravelli, Angelo, additional, Redmond, Anthony C., additional, Reeves, Westley H., additional, Remmers, Elaine F., additional, Requena, Luis, additional, Ribbens, Clio, additional, Richardson, Bruce C., additional, Riera Alonso, Elena, additional, Riley, Graham, additional, Ritchlin, Christopher, additional, Ritter, Susan Y., additional, Rosas, Ivan O., additional, Rowan, Drew D., additional, Rudwaleit, Martin, additional, Rull, Marina, additional, Rygg, Marite, additional, Saag, Kenneth G., additional, Salmon, Jane E., additional, Salter, Donald M., additional, Salzberg, Daniel J., additional, Sambrook, Philip N., additional, Saxne, Tore, additional, Schaible, Hans-Georg, additional, Scher, Jose U., additional, Schett, Georg, additional, Schmitz, Nicole, additional, Schreiber, Benjamin, additional, Schumacher, H. Ralph, additional, Schwartz, Daniella Muallem, additional, Scott, David G.I., additional, Seton, Margaret, additional, Shapiro, Lauren M., additional, Sharby, Nancy, additional, Siegel, Jeffrey, additional, Siegel, Richard M., additional, Sieper, Joachim, additional, Silver, Richard M., additional, Silverberg, Shonni J., additional, Simard, Julia F., additional, Simmons, Barry P., additional, Simms, Robert W., additional, Singer, Nora G., additional, Smith, Malcolm D., additional, Smith, Stacy E., additional, Smolen, Josef S., additional, Spector, Tim D., additional, Steen, Virginia D., additional, Steere, Allen C., additional, Steiner, Günter, additional, Steinert, Andre F., additional, Stojan, George, additional, Stone, John H., additional, Strand, Vibeke, additional, Straub, Rainer H., additional, Streeten, Elizabeth A., additional, Superti-Furga, Giulio, additional, Symmons, Deborah P.M., additional, Szekanecz, Zoltan, additional, Tak, Paul P., additional, Tavoni, Antonio, additional, Taylor, Peter C., additional, Terkeltaub, Robert, additional, Thomas, Sarah S., additional, Thorne, Jennifer E., additional, Tobias, Jonathan H., additional, Tremoulet, Adriana H., additional, Tsokos, George C., additional, Tuan, Rocky S., additional, Turesson, Carl, additional, Unizony, Sebastian H., additional, Valdes, Ana M., additional, van den Berg, Wim B., additional, van der Heijde, Désirée, additional, van Vollenhoven, Ronald Frits, additional, Varga, John, additional, Vassilopoulos, Dimitrios, additional, Vital, Edward M., additional, Walker-Bone, Karen, additional, Wallace, Daniel J., additional, Warburton, Gary, additional, Ward, Robert J., additional, Watts, Richard, additional, Wechalekar, Mihir D., additional, Wedderburn, Lucy R., additional, Weinblatt, Michael E., additional, Weir, Matthew R., additional, Wenham, Claire Y.J., additional, West, Sterling G., additional, Weyand, Cornelia M., additional, White, Kenneth E., additional, Winthrop, Kevin L., additional, Wong, John B., additional, Woolf, Anthony D., additional, Worthington, Jane, additional, Xu, Huji, additional, Yazici, Hasan, additional, Young, D.A., additional, Yurdakul, Sebahattin, additional, Zhang, Yuqing, additional, and Zhuang, Haoyang, additional

Published
2015
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33. Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

Author

Zhou, Qing, Yang, Dan, Ombrello, Amanda K., Zavialov, Andrey V., Toro, Camilo, Zavialov, Anton V., Stone, Deborah L., Chae, Jae Jin, Rosenzweig, Sergio D., Bishop, Kevin, Barron, Karyl S., Kuehn, Hye Sun, Hoffmann, Patrycja, Negro, Alejandra, Tsai, Wanxia L., Cowen, Edward W., Pei, Wuhong, Milner, Joshua D., Silvin, Christopher, Heller, Theo, Chin, David T., Patronas, Nicholas J., Barber, John S., Lee, Chyi-Chia R., Wood, Geryl M., Ling, Alexander, Kelly, Susan J., Kleiner, David E., Mullikin, James C., Ganson, Nancy J., Kong, Heidi H., Hambleton, Sophie, Candotti, Fabio, Quezado, Martha M., Calvo, Katherine R., Alao, Hawwa, Barham, Beverly K., Jones, Anne, Meschia, James F., Worrall, Bradford B., Kasner, Scott E., Rich, Stephen S., Goldbach-Mansky, Raphaela, Abinun, Mario, Chalom, Elizabeth, Gotte, Alisa C., Punaro, Marilynn, Pascual, Virginia, Verbsky, James W., Torgerson, Troy R., Singer, Nora G., Gershon, Timothy R., Ozen, Seza, Karadag, Omer, Fleisher, Thomas A., Remmers, Elaine F., Burgess, Shawn M., Moir, Susan L., Gadina, Massimo, Sood, Raman, Hershfield, Michael S., Boehm, Manfred, Kastner, Daniel L., and Aksentijevich, Ivona

Published
2014
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34. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

Author

Aksentijevich, Ivona, Masters, Seth L., Ferguson, Polly J., Dancey, Paul, Frenkel, Joost, van Royen-Kerkhoff, Annet, Laxer, Ron, Tedgard, Ulf, Cowen, Edward W., Tuyet-Hang Pham, Booty, Matthew, Estes, Jacob D., Sandler, Netanya G., Plass, Nicole, Stone, Deborah L., Turner, Maria L., Hill, Suvimol, Butman, John A., Schneider, Rayfel, Babyn, Paul, El-Shanti, Hatem I., Pope, Elena, Barron, Karyl, Xinyu Bing, Laurence, Arian, Chyi-Chia R. Lee, Chapelle, Dawn, Clarke, Gillian I., Ohson, Kamal, Nicholson, Mark, Gadina, Massimo, Yang, Barbara, Korman, Benjamin D., Gregersen, Peter K., van Hegen, P. Martin, Hak, A. Elisabeth, Huizing, Marjan, Rahman, Proton, Douek, Daniel C., Remmers, Elaine F., Kastner, Daniel L., and Goldbach-Mansky, Raphaela

Subjects
Autoimmune diseases -- Causes of, Autoimmune diseases -- Drug therapy, Gene mutations -- Research, Interleukin-1 -- Health aspects, Interleukin-1 -- Usage
Abstract

An autoinflammatory disease involving skin and bone, which is caused by mutations in IL1RN, the gene encoding the interleukin-1-receptor antagonist, is reported. The term deficiency of the interleukin-1-receptor antagonist or DIRA is used to denote the life-threatening systemic disease.

Published
2009

38. PFAPA: a single phenotype with genetic heterogeneity

Author

Lapidus Sivia K, Chitkara Puja, Kim Peter W, Aksentijevich Ivona, Remmers Elaine F, Feder Henry, Barham Beverly K, Jones Anne, Ward Michael M, Barron Karyl S, Kastner Daniel L, and Stojanov Silvia

Subjects
Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Published
2012
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39. Systemic juvenile idiopathic arthritis is associated with HLA-DRB1 in Europeans and Americans of European descent

Author

Ombrello Michael, Remmers Elaine F, Grom Alexei A, Thomson Wendy, Martini Alberto, Gattorno Marco, Ozen Seza, Gul Ahmet, Bohnsack John F, Zeft Andrew S, Mellins Elizabeth D, Park Jane L, Len Claudio, Satorius Colleen, Russo Ricardo AG, Finkel Terri H, Yeung Rae SM, Schneider Rayfel, Prahalad Sampath, Glass David N, Allen Roger C, Wulffraat Nico, Quartier Pierre, Hilario Maria Odete E, Murray Kevin, Oliveira Sheila, Anton Jordi, Hinks Anne, Zeggini Eleftheria, Langefeld Carl, Thompson Susan, Chaitow Jeffrey, Ellis Justine, Singh Davinder, Cavalvanti Andre, Bica Blanca, Sztajnbok Flavio, Hakonarson Hakon, Siminovitch Katherine A, Minden Kirsten, Haas Peter, Schwarz Tobias, Kastner Daniel L, and Woo Patricia

Subjects
Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Published
2012
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40. TRAF1-C5 as a risk locus for rheumatoid arthritis- a genomewide study

Author

Plenge, Robert M., Seielstad, Mark, Padyukov, Leonid, Lee, Annette, T., Remmers, Elaine F., Seldin, Michael F., Bo Ding, Liew, Anthony, Khalili, Houman, Chandrasekaran, Alamelu, Davies, Leela R. L., Kastner, Daniel L., Wentian Li, Tan, Andrian K. S., Bonnard, Carine, Ong, Rick T. H., Thalamuthu, Anbupalam, Klareskog, Lars, Pettersson, Sven, Chunyu Liu, Chao Tian, Wei V. Chen, Carulli, John P., Gregerson, Peter K., Beckman, Evan M., Evan M., Altshuler, David, Alfredsson, Lars, Criswell, Lindsey A., and Amos, Christopher I.

Subjects
Tumor necrosis factor -- Research, Tumor necrosis factor -- Physiological aspects, Rheumatoid arthritis -- Risk factors, Rheumatoid arthritis -- Research, Rheumatoid arthritis -- Genetic aspects, Quantitative trait loci -- Research, Quantitative trait loci -- Physiological aspects
Abstract

The article discusses a study that helps in the identification of several genetic loci, including TRAF1 (encoding tumor necrosis factor-receptor associated factor 1) and C5 (encoding complement component 5) that increase the risk for rheumatoid arthritis considerably.

Published
2007

41. STAT4 and the risk of rheumatoid arthritis and systematic lupus erythematosus

Author

Remmers, Elaine F., Plenge, Robert M., Lee, Annette T., Graham, Robert R., Hom, Geoffrey, Behrens, Timothy W., de Bakker, Paul I.W., Le, Julie M., Hye-Soon Lee, Batliwalla, Franak, Wentian Li, Masters, Seth L., Booty, Matthew G., Carulli, John P., Padyuko, Leonid, Alfredsson, Lars, Klareskog, Lars, Wei V. Chen, Amos, Christopher I., Criswell, Lindsey A., Seldin, Michael F., Kastner, Daniel L., and Gregersen, Peter K.

Subjects
Rheumatoid arthritis -- Risk factors, Rheumatoid arthritis -- Diagnosis, Lupus erythematosus -- Risk factors, Lupus erythematosus -- Diagnosis
Abstract

The single-necleotide polymorphism was tested within the previously linked chromosome region for association with rheumatoid arthritis. Results showed that the halotype STAT4 was associated with increased risk of both rheumatoid arthritis and systematic lupus erythematosus.

Published
2007

42. Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4

Author

Plenge, Robert M., Padyukov, Leonid, Remmers, Elaine F., Purcell, Shaun, Lee, Annette T., Karlson, Elizabeth W., Wolfe, Frederick, Kastner, Daniel L., Alfredsson, Lars, Altshuler, David, Gregersen, Peter K., Klareskog, Lars, and Rioux, John D.

Subjects
Rheumatoid arthritis -- Research, Human genetics -- Research, Biological sciences
Published
2005

45. Contributors

Author

Abeles, Aryeh M., primary, Abelson, Abby G., additional, Abhishek, Abhishek, additional, Abramson, Steven B., additional, Adams, Michael A., additional, Adlam, David M., additional, Aigner, Thomas, additional, Akira, Shizuo, additional, Aksentijevich, Ivona, additional, Aletaha, Daniel, additional, Aliprantis, Antonios O., additional, Allaart, Cornelia F., additional, Allen, Pamela G., additional, Altman, Roy D., additional, Aringer, Martin, additional, Ascherman, Dana P., additional, Assassi, Shervin, additional, Atamas, Sergei P., additional, Baer, Alan N., additional, Baeten, Dominique, additional, Baker, Nancy, additional, Balsa, Alejandro, additional, Barnsley, Les, additional, Bathon, Joan M., additional, Becker, Michael A., additional, Belch, Jill JF, additional, Bellamy, Nicholas, additional, Bellido, Teresita, additional, Benitez, R. Michael, additional, Benjamin, Michael, additional, Beresford, Michael W., additional, Berman, Brian M., additional, Bermas, Bonnie Lee, additional, Bertsias, George, additional, Bilezikian, John P., additional, Blazar, Philip E., additional, Bleasel, Jane F., additional, Böhm, Markus, additional, Boileau, Christelle, additional, Bolster, Marcy B., additional, Bombardieri, Stefano, additional, Bonnick, Sydney, additional, Boumpas, Dimitrios T., additional, Brasington, Richard D., additional, Breedveld, Ferdinand, additional, Brien, Earl W., additional, Brower, Anne C., additional, Brown, Matthew A., additional, Bruce, Ian N., additional, Bugbee, William D., additional, Bukhari, Marwan A.S., additional, Burgos-Vargas, Rubén, additional, Burns, Jane C., additional, Burr, David B., additional, Cagnoli, Patricia C., additional, Calabrese, Leonard H., additional, Callen, Jeffrey P., additional, Canoso, Juan J., additional, Cavallo, Sabrina, additional, Cawston, Tim E., additional, Chard, Michael Denis, additional, Chen, Lan X., additional, Choy, Ernest H.S., additional, Clauw, Daniel J., additional, Clements, Philip J., additional, Colburn, Nona T., additional, Coleman, Laura A., additional, Conaghan, Philip G., additional, Cooper, Cyrus, additional, Cosman, Felicia, additional, Costenbader, Karen H., additional, Creamer, Paul, additional, Crispin, José C., additional, Criswell, Lindsey A., additional, Cronstein, Bruce N., additional, Cross, Raymond, additional, Cusano, Natalie E., additional, Cush, John J., additional, Cutolo, Maurizio, additional, D’Agati, Vivette, additional, Dagfinrud, Hanne, additional, Daikh, David I., additional, Dalton, Seamus E., additional, Dass, Shouvik, additional, David, Jean-Pierre, additional, Davis, Aileen, additional, Deal, Chad L., additional, De Ceulaer, Karel, additional, Deighton, Chris, additional, Dellaripa, Paul F., additional, Rossa, Alessandra Della, additional, Dempster, David, additional, Dennison, Elaine, additional, Denton, Christopher P., additional, Denton, John, additional, Dhawale, Roshan, additional, Doherty, Michael, additional, Dolan, Patricia, additional, Donn, Rachelle, additional, Dooley, Mary Anne, additional, Dougados, Maxime, additional, Drummond, Michael F., additional, Dyer, George S.M., additional, Earp, Brandon E., additional, Edwards, N. Lawrence, additional, Ellender, Patrick, additional, Emery, Paul, additional, Espinoza, Luis R., additional, Farber, Joshua M., additional, Fasth, Anders, additional, Feldman, Debbie, additional, Felson, David T., additional, Fitzgerald, G. Kelley, additional, Flores, Raymond H., additional, Fox, David A., additional, Francomano, Clair A., additional, Freemont, Anthony J., additional, Fresko, Izzet, additional, Fricka, Kevin B., additional, Furst, Daniel E., additional, Gabay, Cem, additional, Gabriel, Sherine E., additional, Galarraga, Bernat, additional, Gäre, Boel Andersson, additional, Garnero, Patrick, additional, Gensler, Lianne S., additional, Gerlag, Danielle M., additional, Geusens, Piet P., additional, Giles, Jon T., additional, Ginzler, Ellen M., additional, Gizinski, Alison M., additional, Gold, Garry, additional, Gonzalez-Rivera, Tania, additional, Gordon, Caroline, additional, Gorodkin, Rachel, additional, Goronzy, Jorg J., additional, Görtz, Simon, additional, Gournelos, Elena, additional, Grahame, Rodney, additional, Grainger, Andrew J., additional, Gravallese, Ellen M., additional, Greenberg, Jeffrey D., additional, Hagley, Karlene, additional, Hakim, Alan J., additional, Hamuryudan, Vedat, additional, Haraoui, Boulos, additional, Harder, Adam, additional, Harley, John B., additional, Harris, E. Nigel, additional, Hashkes, Philip J., additional, Hawker, Gillian, additional, Hawkins, Philip N., additional, Heiberg, Turid, additional, Heinegård, Dick, additional, Helfgott, Simon M., additional, Heller, Jenny E., additional, Herrick, Ariane L., additional, Higgins, Laurence D., additional, Gaston, J. S. Hill, additional, Hochberg, Marc C., additional, Hoffmann, Markus, additional, Holers, V. Michael, additional, Holick, Michael F., additional, Holroyd, Christopher, additional, Hübscher, Osvaldo, additional, Huizinga, Tom W.J., additional, Hunter, David J., additional, Husni, M. Elaine, additional, Inman, Robert D., additional, Isaac, Zacharia, additional, Iversen, Maura D., additional, Jabs, Douglas A., additional, James, Hayley, additional, Javier, Rose-Marie, additional, Jayne, David, additional, Johnsen, Alyssa K., additional, Jordan, Joanne M., additional, Joy, Melanie S., additional, Kaisho, Tsuneyasu, additional, Kallenberg, Cees G.M., additional, Kanno, Yuka, additional, Karlson, Elizabeth W., additional, Kassimos, Dimitrios G., additional, Kastner, Daniel L., additional, Katz, Jeffrey N., additional, Kavanaugh, Arthur, additional, Kay, Jonathan, additional, Kelly, Jennifer A., additional, Keystone, Edward, additional, Khamashta, Munther A., additional, Khanna, Dinesh, additional, Kim, Peter W., additional, Kjeken, Ingvild, additional, Koch, Alisa E., additional, Koff, Matthew F., additional, Kraus, Virginia Byers, additional, Kremers, Hillal Maradit, additional, Krug, Hollis Elaine, additional, Kumar, Pradeep, additional, Kvien, Tore K., additional, Lafyatis, Robert, additional, Landau, Talia, additional, Landewé, Robert B.M., additional, Langford, Carol A., additional, Laxer, Ronald M., additional, Learch, Thomas J., additional, Leirisalo-Repo, Marjatta, additional, Lewith, George T., additional, Li, Yi, additional, Liao, Katherine P., additional, Littlejohn, Geoffrey, additional, Lockshin, Michael D., additional, Lorenzo, Pilar, additional, Luger, Thomas A., additional, Lundberg, Ingrid E., additional, Luthra, Harvinder S., additional, Machold, Klaus P., additional, Mackenzie, C. Ronald, additional, Mahowald, Maren Lawson, additional, Mahr, Alfred D., additional, Marini, Joan C., additional, Markalanda, Eresha, additional, Marquez, Javier, additional, Martel-Pelletier, Johanne, additional, Martin-Mola, Emilio, additional, Martinez-Lavin, Manuel, additional, Massarotti, Elena M., additional, Matteson, Eric L., additional, Mayes, Maureen, additional, Mayosi, Bongani M., additional, McAlindon, Timothy, additional, McCallum, Rex M., additional, McCarthy, Geraldine, additional, McCune, W. Joseph, additional, McGann, Stephany A., additional, McGonagle, Dennis, additional, McLean, Lachy, additional, Mease, Philip J., additional, Merkel, Peter A., additional, Mikdashi, Jamal A., additional, Miller, Frederick W., additional, Miller, Paul D., additional, Minden, Kirsten, additional, Mitsias, Dimitris I., additional, Mody, Girish M., additional, Monach, Paul A., additional, Moreland, Larry W., additional, Moutsopoulos, Haralampos M., additional, Namur, Gauthier, additional, Naredo, Esperanza, additional, Nashel, David J., additional, Nelson, Amanda E., additional, Newman, Stanton P., additional, Nossent, Johannes C., additional, Nöth, Ulrich, additional, O’Connor, Philip, additional, Oddis, Chester V., additional, Olsson, K. Sigvard, additional, Ombrello, Michael J., additional, Orcel, Philippe, additional, O'Shea, John J., additional, Paget, Stephen A., additional, Patrono, Carlo, additional, Pelletier, Jean-Pierre, additional, Pierangeli, Silvia, additional, Pierce, Heather, additional, Pilkington, Clarissa A., additional, Pillinger, Michael H., additional, Pineda, Carlos, additional, Plenge, Robert M., additional, Pricop, Luminita, additional, Rackwitz, Lars, additional, Ramani, Gautam, additional, Ravelli, Angelo, additional, Reeves, Westley H., additional, Remmers, Elaine F., additional, Repo, Heikki, additional, Requena, Luis, additional, Ribbens, Clio, additional, Riley, Graham, additional, Ritchlin, Christopher, additional, Rosas, Ivan O., additional, Roubenoff, Ronenn, additional, Rowan, A.D., additional, Rudwaleit, Martin, additional, Saag, Kenneth G., additional, Salmon, Jane E., additional, Salonen, David C., additional, Salter, Donald M., additional, Salzberg, Daniel J., additional, Sambrook, Philip N., additional, Sanofsky, Benjamin, additional, Saxne, Tore, additional, Schaible, Hans-Georg, additional, Schett, Georg, additional, Schmitz, Nicole, additional, Schon, Lew C., additional, Schumacher, H. Ralph, additional, Scott, David G.I., additional, Seidelmann, Brooke, additional, Sestak, Andrea L., additional, Seton, Margaret, additional, Shadick, Nancy A., additional, Shapiro, Lauren, additional, Shi, Lewis L., additional, Sidiropoulos, Prodromos, additional, Siegel, Richard M., additional, Sieper, Joachim, additional, Silver, Richard M., additional, Silverberg, Shonni J., additional, Simard, Julia F., additional, Simmons, Barry P., additional, Simms, Robert W., additional, Sims, John, additional, Singer, Nora G., additional, Smith, Malcolm D., additional, Smith, Stacy E., additional, Smolen, Josef S., additional, Spector, Tim D., additional, St. Clair, E. William, additional, Steen, Virginia D., additional, Steiner, Günter, additional, Steinert, Andre F., additional, Stone, John H., additional, Stone, Millicent A., additional, Straub, Rainer H., additional, Symmons, Deborah P.M., additional, Szekanecz, Zoltán, additional, Szer, Ilona S., additional, Tak, Paul P., additional, Tavoni, Antonio, additional, Taylor, Peter C., additional, Terkeltaub, Robert, additional, Thabet, Mohamed M., additional, Thorne, Jennifer E., additional, Tsokos, George C., additional, Tuan, Rocky S., additional, Turesson, Carl, additional, Tzioufas, Athanasios G., additional, Uber, Patricia A., additional, van den Berg, Wim B., additional, van der Heijde, Désirée, additional, van Gaalen, Floris A., additional, Varga, John, additional, Vassilopoulos, Dimitrios, additional, Vasudevan, Archana R., additional, Venables, Patrick J.W., additional, Vital, Edward M., additional, Wakefield, Richard J., additional, Walker, Jennifer G., additional, Ward, Robert J., additional, Watts, Richard, additional, Wedderburn, Lucy R., additional, Weinblatt, Michael E., additional, Weir, Matthew R., additional, Wenham, Claire Y.J., additional, West, Sterling G., additional, Weyand, Cornelia M., additional, White, Kenneth E., additional, Williams, Frances M.K., additional, Winthrop, Kevin L., additional, Woolf, Anthony D., additional, Worthington, Jane, additional, Wright, John, additional, Yazici, Hasan, additional, Yazici, Yusuf, additional, York, John R., additional, Young, D.A., additional, Yurdakul, Sebahattin, additional, Zhai, Guangju, additional, Zhang, Yuqing, additional, and Zhuang, Haoyang, additional

Published
2011
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46. Naturally Occurring Genetic Variants of Human Caspase-1 Differ Considerably in Structure and the Ability to Activate Interleukin-1β

Author

Luksch, Hella, Romanowski, Michael J., Chara, Osvaldo, Tüngler, Victoria, Caffarena, Ernesto R., Heymann, Michael C., Lohse, Peter, Aksentijevich, Ivona, Remmers, Elaine F., Flecks, Silvana, Quoos, Nadine, Gramatté, Johannes, Petzold, Cathleen, Hofmann, Sigrun R., Winkler, Stefan, Pessler, Frank, Kallinich, Tilmann, Ganser, Gerd, Nimtz-Talaska, Antje, Baumann, Ulrich, Runde, Volker, Grimbacher, Bodo, Birmelin, Jennifer, Gahr, Manfred, Roesler, Joachim, and Rösen-Wolff, Angela

Published
2013
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49. Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions

Author

Ombrello, Michael J., Remmers, Elaine F., Sun, Guangping, Freeman, Alexandra F., Datta, Shrimati, Torabi-Parizi, Parizad, Subramanian, Naeha, Bunney, Tom D., Baxendale, Rhona W., Martins, Marta S., Romberg, Neil, Komarow, Hirsh, Aksentijevich, Ivona, Kim, Hun Sik, Ho, Jason, Cruse, Glenn, Jung, Mi-Yeon, Gilfillan, Alasdair M., Metcalfe, Dean D., Nelson, Celeste, OʼBrien, Michelle, Wisch, Laura, Stone, Kelly, Douek, Daniel C., Gandhi, Chhavi, Wanderer, Alan A., Lee, Hane, Nelson, Stanley F., Shianna, Kevin V., Cirulli, Elizabeth T., Goldstein, David B., Long, Eric O., Moir, Susan, Meffre, Eric, Holland, Steven M., Kastner, Daniel L., Katan, Matilda, Hoffman, Hal M., and Milner, Joshua D.

Published
2012
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