Search Results - "Remmers, Elaine"

The immunogenetics of Behçet's disease: A comprehensive review by Takeuchi, Masaki, Kastner, Daniel L, Remmers, Elaine F

“…Abstract Behçet's disease is a chronic multisystem inflammatory disorder characterized mainly by recurrent oral ulcers, ocular involvement, genital ulcers, and…”
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Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease by 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., Aksentijevich, Ivona

“…Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by…”
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Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production by 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 I, Rother, Kristina, Hildebrand, Peter W, Brogan, Paul, Krüger, Elke, Aksentijevich, Ivona, Goldbach-Mansky, Raphaela

“…Autosomal recessive mutations in proteasome subunit β 8 (PSMB8), which encodes the inducible proteasome subunit β5i, cause the immune-dysregulatory disease…”
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Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B51 and ERAP1 by Kirino, Yohei, Bertsias, George, Ishigatsubo, Yoshiaki, Mizuki, Nobuhisa, Tugal-Tutkun, Ilknur, Seyahi, Emire, Ozyazgan, Yilmaz, Sacli, F Sevgi, Erer, Burak, Inoko, Hidetoshi, Emrence, Zeliha, Cakar, Atilla, Abaci, Neslihan, Ustek, Duran, Satorius, Colleen, Ueda, Atsuhisa, Takeno, Mitsuhiro, Kim, Yoonhee, Wood, Geryl M, Ombrello, Michael J, Meguro, Akira, Gül, Ahmet, Remmers, Elaine F, Kastner, Daniel L

“…Daniel Kastner and colleagues report genome-wide association analyses for Behçet's disease, a condition characterized by episodic inflammation of the skin and…”
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Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis by 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, Chae, Jae Jin

“…Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by homozygous or compound heterozygous gain-of-function mutations in MEFV , which…”
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Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis by 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., Kastner, Daniel L.

“…Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome in children. The disease…”
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Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics by Ombrello, Michael J, Kastner, Daniel L, Remmers, Elaine F

“…PURPOSE OF REVIEWThis article will review the genetic evidence implicating ERAP1, which encodes the endoplasmic reticulum-associated amino-peptidase 1, in…”
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Genetic architectures of seropositive and seronegative rheumatic diseases by Kirino, Yohei, Remmers, Elaine F.

“…Key Points Genome-wide association studies of rheumatic diseases have revealed different shared 'genetic architectures' between seropositive and the…”
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Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity by Ombrello, Michael J., Kirino, Yohei, de Bakker, Paul I. W., Gül, Ahmet, Kastner, Daniel L., Remmers, Elaine F.

“…The HAL protein, HLA-B*51, encoded by HLA-B in MHC, is the strongest known genetic risk factor for Behçet disease (BD). Associations between BD and other…”
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Severe delayed hypersensitivity reactions to IL-1 and IL-6 inhibitors link to common HLA-DRB115 alleles by Saper, Vivian E, Ombrello, Michael J, Tremoulet, Adriana H, Montero-Martin, Gonzalo, Prahalad, Sampath, Canna, Scott, Shimizu, Chisato, Deutsch, Gail, Tan, Serena Y, Remmers, Elaine F, Monos, Dimitri, Hahn, Timothy, Phadke, Omkar K, Cassidy, Elaine, Ferguson, Ian, Mallajosyula, Vamsee, Xu, Jianpeng, Rosa Duque, Jaime S, Chua, Gilbert T, Ghosh, Debopam, Szymanski, Ann Marie, Rubin, Danielle, Burns, Jane C, Tian, Lu, Fernandez-Vina, Marcelo A, Mellins, Elizabeth D, Hollenbach, Jill A

“…Drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe, delayed hypersensitivity reaction (DHR). We observed DRESS to inhibitors of…”
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Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility by Takeuchi, Masaki, Mizuki, Nobuhisa, Meguro, Akira, Ombrello, Michael J, Kirino, Yohei, Satorius, Colleen, Le, Julie, Blake, Mary, Erer, Burak, Kawagoe, Tatsukata, Ustek, Duran, Tugal-Tutkun, Ilknur, Seyahi, Emire, Ozyazgan, Yilmaz, Sousa, Inês, Davatchi, Fereydoun, Francisco, Vânia, Shahram, Farhad, Abdollahi, Bahar Sadeghi, Nadji, Abdolhadi, Shafiee, Niloofar Mojarad, Ghaderibarmi, Fahmida, Ohno, Shigeaki, Ueda, Atsuhisa, Ishigatsubo, Yoshiaki, Gadina, Massimo, Oliveira, Sofia A, Gül, Ahmet, Kastner, Daniel L, Remmers, Elaine F

“…Daniel Kastner, Elaine Remmers and colleagues perform an association study of Behçet's disease based on dense genotyping of immune-related loci. They identify…”
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A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs by Olsson, Mia, Meadows, Jennifer R S, Truvé, Katarina, Rosengren Pielberg, Gerli, Puppo, Francesca, Mauceli, Evan, Quilez, Javier, Tonomura, Noriko, Zanna, Giordana, Docampo, Maria José, Bassols, Anna, Avery, Anne C, Karlsson, Elinor K, Thomas, Anne, Kastner, Daniel L, Bongcam-Rudloff, Erik, Webster, Matthew T, Sanchez, Armand, Hedhammar, Ake, Remmers, Elaine F, Andersson, Leif, Ferrer, Lluis, Tintle, Linda, Lindblad-Toh, Kerstin

“…Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans,…”
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Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci by Zhernakova, Alexandra, Stahl, Eli A, Trynka, Gosia, Raychaudhuri, Soumya, Festen, Eleanora A, Franke, Lude, Westra, Harm-Jan, Fehrmann, Rudolf S N, Kurreeman, Fina A S, Thomson, Brian, Gupta, Namrata, Romanos, Jihane, McManus, Ross, Ryan, Anthony W, Turner, Graham, Brouwer, Elisabeth, Posthumus, Marcel D, Remmers, Elaine F, Tucci, Francesca, Toes, Rene, Grandone, Elvira, Mazzilli, Maria Cristina, Rybak, Anna, Cukrowska, Bozena, Coenen, Marieke J H, Radstake, Timothy R D J, van Riel, Piet L C M, Li, Yonghong, de Bakker, Paul I W, Gregersen, Peter K, Worthington, Jane, Siminovitch, Katherine A, Klareskog, Lars, Huizinga, Tom W J, Wijmenga, Cisca, Plenge, Robert M

“…Epidemiology and candidate gene studies indicate a shared genetic basis for celiac disease (CD) and rheumatoid arthritis (RA), but the extent of this sharing…”
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Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease by 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, Remmers, Elaine F.

“…Genome-wide association studies (GWAS) are a powerful means of identifying genes with disease-associated common variants, but they are not well-suited to…”
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Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease by Remmers, Elaine F, Cosan, Fulya, Kirino, Yohei, Ombrello, Michael J, Abaci, Neslihan, Satorius, Colleen, Le, Julie M, Yang, Barbara, Korman, Benjamin D, Cakiris, Aris, Aglar, Oznur, Emrence, Zeliha, Azakli, Hulya, Ustek, Duran, Tugal-Tutkun, Ilknur, Akman-Demir, Gulsen, Chen, Wei, Amos, Christopher I, Dizon, Michael B, Kose, Afet Akdag, Azizlerli, Gulsevim, Erer, Burak, Brand, Oliver J, Kaklamani, Virginia G, Kaklamanis, Phaedon, Ben-Chetrit, Eldad, Stanford, Miles, Fortune, Farida, Ghabra, Marwen, Ollier, William E R, Cho, Young-Hun, Bang, Dongsik, O'Shea, John, Wallace, Graham R, Gadina, Massimo, Kastner, Daniel L, Gül, Ahmet

“…Elaine Remmers and colleagues report a genome-wide association study for Behçet's Disease in a Turkish population. They identify associations in the Class I…”
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Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions by 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, Stanley F, Nelson, Celeste, O'Brien, Michelle, Wisch, Laura, Stone, Kelly, Douek, Daniel C, Gandhi, Chhavi, Wanderer, Alan A, Lee, Hane, 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, Milner, Joshua D

“…Analyses of families affected by cold urticaria, immunodeficiency, and autoimmunity implicate mutations that activate phospholipase Cγ2 (PLCγ2), an enzyme…”
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HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry by 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., Steinbacha, Peter J., Chandrasekharappab, Settara C., Mullikinc, James C., Adeyemo, Adebowale, Rotimi, Charles, Wigley, Fredrick M., Kastner, Daniel L., Boin, Francesco, Remmers, Elaine F.

“…Systemic sclerosis (SSc) is a clinically heterogeneous autoimmune disease characterized by mutually exclusive autoantibodies directed against distinct nuclear…”
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Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome by 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., Broderick, Lori

“…Genetic analyses of three families with disabling pansclerotic morphea uncovered a cause of the disease, providing insight into the molecular pathology of the…”
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Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications by Ombrello, Michael J, Arthur, Victoria L, Remmers, Elaine F, Hinks, Anne, Tachmazidou, Ioanna, Grom, Alexei A, Foell, Dirk, Martini, Alberto, Gattorno, Marco, Özen, Seza, Prahalad, Sampath, Zeft, Andrew S, Bohnsack, John F, Ilowite, Norman T, Mellins, Elizabeth D, Russo, Ricardo, Len, Claudio, Hilario, Maria Odete E, Oliveira, Sheila, Yeung, Rae S M, Rosenberg, Alan M, Wedderburn, Lucy R, Anton, Jordi, Haas, Johannes-Peter, Rosen-Wolff, Angela, Minden, Kirsten, Tenbrock, Klaus, Demirkaya, Erkan, Cobb, Joanna, Baskin, Elizabeth, Signa, Sara, Shuldiner, Emily, Duerr, Richard H, Achkar, Jean-Paul, Kamboh, M Ilyas, Kaufman, Kenneth M, Kottyan, Leah C, Pinto, Dalila, Scherer, Stephen W, Alarcón-Riquelme, Marta E, Docampo, Elisa, Estivill, Xavier, Gül, Ahmet, Langefeld, Carl D, Thompson, Susan, Zeggini, Eleftheria, Kastner, Daniel L, Woo, Patricia, Thomson, Wendy

“…Juvenile idiopathic arthritis (JIA) is a heterogeneous group of conditions unified by the presence of chronic childhood arthritis without an identifiable…”
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Brief Report: Deficiency of Complement 1r Subcomponent in Early‐Onset Systemic Lupus Erythematosus: The Role of Disease‐Modifying Alleles in a Monogenic Disease by 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, Aksentijevich, Ivona

“…Objective To identify a genetic cause of early‐onset systemic lupus erythematosus (SLE) in a large consanguineous family from Turkey and to study the…”
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