Search Results - "KAUFMAN, Kenneth M"

Whole‐Exome Sequencing Reveals Overlap Between Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis and Familial Hemophagocytic Lymphohistiocytosis by Kaufman, Kenneth M., Linghu, Bolan, Szustakowski, Joseph D., Husami, Ammar, Yang, Fan, Zhang, Kejian, Filipovich, Alexandra H., Fall, Ndate, Harley, John B., Nirmala, N. R., Grom, Alexei A.

“…Objective Macrophage activation syndrome (MAS), a life‐threatening complication of systemic juvenile idiopathic arthritis (JIA), resembles familial…”
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Genetic susceptibility to SLE: new insights from fine mapping and genome-wide association studies by Kelly, Jennifer A, Harley, Isaac T. W, Kaufman, Kenneth M, Langefeld, Carl D, Harley, John B

“…Recent advances in genotyping technology have identified or confirmed more than 20 loci that are associated with susceptibility to systemic lupus erythematosus…”
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A High Prevalence of Anti-EBNA1 Heteroantibodies in Systemic Lupus Erythematosus (SLE) Supports Anti-EBNA1 as an Origin for SLE Autoantibodies by Laurynenka, Viktoryia, Ding, Lili, Kaufman, Kenneth M, James, Judith A, Harley, John B

“…That Epstein-Barr virus (EBV) infection is associated with systemic lupus erythematosus (SLE) is established. The challenge is to explain mechanistic roles EBV…”
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Lupus enhancer risk variant causes dysregulation of IRF8 through cooperative lncRNA and DNA methylation machinery by Zhou, Tian, Zhu, Xinyi, Ye, Zhizhong, Wang, Yong-Fei, Yao, Chao, Xu, Ning, Zhou, Mi, Ma, Jianyang, Qin, Yuting, Shen, Yiwei, Tang, Yuanjia, Yin, Zhihua, Xu, Hong, Zhang, Yutong, Zang, Xiaoli, Ding, Huihua, Yang, Wanling, Guo, Ya, Harley, John B., Namjou, Bahram, Kaufman, Kenneth M., Kottyan, Leah C., Weirauch, Matthew T., Hou, Guojun, Shen, Nan

“…Despite strong evidence that human genetic variants affect the expression of many key transcription factors involved in autoimmune diseases, establishing…”
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Profound loss of esophageal tissue differentiation in patients with eosinophilic esophagitis by Rochman, Mark, PhD, Travers, Jared, BS, Miracle, Cora E, Bedard, Mary C., BS, Wen, Ting, PhD, Azouz, Nurit P., PhD, Caldwell, Julie M., PhD, KC, Kiran, BS, Sherrill, Joseph D., PhD, Davis, Benjamin P., MD, PhD, Rymer, Jeffrey K., BS, Kaufman, Kenneth M., PhD, Aronow, Bruce J., PhD, Rothenberg, Marc E., MD, PhD

“…Background A key question in the allergy field is to understand how tissue-specific disease is manifested. Eosinophilic esophagitis (EoE) is an emerging…”
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Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis by Shoda, Tetsuo, Kaufman, Kenneth M., Wen, Ting, Caldwell, Julie M., Osswald, Garrett A., Purnima, Pathre, Zimmermann, Nives, Collins, Margaret H., Rehn, Kira, Foote, Heather, Eby, Michael D., Zhang, Wenying, Ben-Baruch Morgenstern, Netali, Ballaban, Adina Y., Habel, Jeff E., Kottyan, Leah C., Abonia, J. Pablo, Mukkada, Vincent A., Putnam, Philip E., Martin, Lisa J., Rothenberg, Marc E.

“…Eosinophilic esophagitis (EoE) is a chronic allergic inflammatory disease with a complex underlying genetic etiology. Herein, we conduct whole-exome sequencing…”
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Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase by Jacob, Chaim O, Eisenstein, Miriam, Dinauer, Mary C, Ming, Wenyu, Liu, Qiang, John, Sutha, Quismorio, Francesco P., Jr, Reiff, Andreas, Myones, Barry L, Kaufman, Kenneth M, McCurdy, Deborah, Harley, John B, Silverman, Earl, Kimberly, Robert P, Vyse, Timothy J, Gaffney, Patrick M, Moser, Kathy L, Klein-Gitelman, Marisa, Wagner-Weiner, Linda, Langefeld, Carl D, Armstrong, Don L, Zidovetzki, Raphael

“…Systemic lupus erythematosus (SLE), the prototypic systemic autoimmune disease, is a debilitating multisystem autoimmune disorder characterized by chronic…”
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Shared and distinct interactions of type 1 and type 2 Epstein-Barr Nuclear Antigen 2 with the human genome by Viel, Kenyatta C M F, Parameswaran, Sreeja, Donmez, Omer A, Forney, Carmy R, Hass, Matthew R, Yin, Cailing, Jones, Sydney H, Prosser, Hayley K, Diouf, Arame A, Gittens, Olivia E, Edsall, Lee E, Chen, Xiaoting, Rowden, Hope, Dunn, Katelyn A, Guo, Rui, VonHandorf, Andrew, Leong, Merrin Man Long, Ernst, Kevin, Kaufman, Kenneth M, Lawson, Lucinda P, Gewurz, Ben, Zhao, Bo, Kottyan, Leah C, Weirauch, Matthew T

“…There are two major genetic types of Epstein-Barr Virus (EBV): type 1 (EBV-1) and type 2 (EBV-2). EBV functions by manipulating gene expression in host B…”
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Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility by Adrianto, Indra, Lin, Chee Paul, Hale, Jessica J, Levin, Albert M, Datta, Indrani, Parker, Ryan, Adler, Adam, Kelly, Jennifer A, Kaufman, Kenneth M, Lessard, Christopher J, Moser, Kathy L, Kimberly, Robert P, Harley, John B, Iannuzzi, Michael C, Rybicki, Benjamin A, Montgomery, Courtney G

“…Sarcoidosis is a systemic inflammatory disease characterized by the formation of granulomas in affected organs. Genome-wide association studies (GWASs) of this…”
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Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience by Valencia, C Alexander, Husami, Ammar, Holle, Jennifer, Johnson, Judith A, Qian, Yaping, Mathur, Abhinav, Wei, Chao, Indugula, Subba Rao, Zou, Fanggeng, Meng, Haiying, Wang, Lijun, Li, Xia, Fisher, Rachel, Tan, Tony, Hogart Begtrup, Amber, Collins, Kathleen, Wusik, Katie A, Neilson, Derek, Burrow, Thomas, Schorry, Elizabeth, Hopkin, Robert, Keddache, Mehdi, Harley, John Barker, Kaufman, Kenneth M, Zhang, Kejian

“…There are limited reports of the use of whole exome sequencing (WES) as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden…”
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Common variants within MECP2 confer risk of systemic lupus erythematosus by Sawalha, Amr H, Webb, Ryan, Han, Shizhong, Kelly, Jennifer A, Kaufman, Kenneth M, Kimberly, Robert P, Alarcón-Riquelme, Marta E, James, Judith A, Vyse, Timothy J, Gilkeson, Gary S, Choi, Chan-Bum, Scofield, R Hal, Bae, Sang-Cheol, Nath, Swapan K, Harley, John B

“…Systemic lupus erythematosus (SLE) is a predominantly female autoimmune disease that affects multiple organ systems. Herein, we report on an X-chromosome gene…”
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Osteopontin and systemic lupus erythematosus association: a probable gene-gender interaction by Han, Shizhong, Guthridge, Joel M, Harley, Isaac T W, Sestak, Andrea L, Kim-Howard, Xana, Kaufman, Kenneth M, Namjou, Bahram, Deshmukh, Harshal, Bruner, Gail, Espinoza, Luis R, Gilkeson, Gary S, Harley, John B, James, Judith A, Nath, Swapan K

“…Osteopontin (SPP1) is an important bone matrix mediator found to have key roles in inflammation and immunity. SPP1 genetic polymorphisms and increased…”
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Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly by DiStasio, Andrew, Driver, Ashley, Sund, Kristen, Donlin, Milene, Muraleedharan, Ranjith M, Pooya, Shabnam, Kline-Fath, Beth, Kaufman, Kenneth M, Prows, Cynthia A, Schorry, Elizabeth, Dasgupta, Biplab, Stottmann, Rolf W

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Transcription factors operate across disease loci, with EBNA2 implicated in autoimmunity by Harley, John B., Chen, Xiaoting, Pujato, Mario, Miller, Daniel, Maddox, Avery, Forney, Carmy, Magnusen, Albert F., Lynch, Arthur, Chetal, Kashish, Yukawa, Masashi, Barski, Artem, Salomonis, Nathan, Kaufman, Kenneth M., Kottyan, Leah C., Weirauch, Matthew T.

“…Explaining the genetics of many diseases is challenging because most associations localize to incompletely characterized regulatory regions. Using new…”
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IRF5 gene polymorphisms in melanoma by Uccellini, Lorenzo, De Giorgi, Valeria, Zhao, Yingdong, Tumaini, Barbara, Erdenebileg, Narnygerel, Dudley, Mark E, Tomei, Sara, Bedognetti, Davide, Ascierto, Maria Libera, Liu, Qiuzhen, Simon, Richard, Kottyan, Leah, Kaufman, Kenneth M, Harley, John B, Wang, Ena, Rosenberg, Steven A, Marincola, Francesco M

“…Interferon regulatory factor (IRF)-5 is a transcription factor involved in type I interferon signaling whose germ line variants have been associated with…”
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Focused transcription from the human CR2/CD21 core promoter is regulated by synergistic activity of TATA and Initiator elements in mature B cells by Taylor, Rhonda L, Cruickshank, Mark N, Karimi, Mahdad, Ng, Han Leng, Quail, Elizabeth, Kaufman, Kenneth M, Harley, John B, Abraham, Lawrence J, Tsao, Betty P, Boackle, Susan A, Ulgiati, Daniela

“…Complement receptor 2 （CR2/CD21） is predominantly expressed on the surface of mature B cells where it forms part of a coreceptor complex that functions, in…”
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Genome-Wide Association Scan of Dupuytren's Disease by Ojwang, Joshua O., PhD, Adrianto, Indra, PhD, Gray-McGuire, Courtney, PhD, Nath, Swapan K., PhD, Sun, Celi, MS, Kaufman, Kenneth M., PhD, Harley, John B., MD, PhD, Rayan, Ghazi M., MD

“…Purpose Dupuytren's disease (DD) has a strong genetic component that is suggested by population studies and family clustering. Genetic studies have yet to…”
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High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry by Sun, Celi, Molineros, Julio E, Looger, Loren L, Zhou, Xu-jie, Kim, Kwangwoo, Okada, Yukinori, Ma, Jianyang, Qi, Yuan-yuan, Kim-Howard, Xana, Motghare, Prasenjeet, Bhattarai, Krishna, Adler, Adam, Bang, So-Young, Lee, Hye-Soon, Kim, Tae-Hwan, Kang, Young Mo, Suh, Chang-Hee, Chung, Won Tae, Park, Yong-Beom, Choe, Jung-Yoon, Shim, Seung Cheol, Kochi, Yuta, Suzuki, Akari, Kubo, Michiaki, Sumida, Takayuki, Yamamoto, Kazuhiko, Lee, Shin-Seok, Kim, Young Jin, Han, Bok-Ghee, Dozmorov, Mikhail, Kaufman, Kenneth M, Wren, Jonathan D, Harley, John B, Shen, Nan, Chua, Kek Heng, Zhang, Hong, Bae, Sang-Cheol, Nath, Swapan K

“…Swapan Nath, Sang-Cheol Bae and colleagues report the results of a large-scale association study of systemic lupus erythematosus in individuals of Asian…”
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Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly by DiStasio, Andrew, Driver, Ashley, Sund, Kristen, Donlin, Milene, Muraleedharan, Ranjith M, Pooya, Shabnam, Kline-Fath, Beth, Kaufman, Kenneth M, Prows, Cynthia A, Schorry, Elizabeth, Dasgupta, Biplab, Stottmann, Rolf W

“…Primary microcephaly is a congenital brain malformation characterized by a head circumference less than three standard deviations below the mean for age and…”
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Validation of low‐coverage whole‐genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth by Yang, Zeyu, Slone, Jesse, Wang, Xinjian, Zhan, Jack, Huang, Yongbo, Namjou, Bahram, Kaufman, Kenneth M., Pauciulo, Michael, Harley, John B., Muglia, Louis J., Chepelev, Iouri, Huang, Taosheng

“…Preterm birth (PTB), or birth that occurs earlier than 37 weeks of gestational age, is a major contributor to infant mortality and neonatal hospitalization…”
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