Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Beverly K. Barham"'
Autor:
Roberta L. DeBiasi, Peter F. Wright, Tina Romeo, Pamela L. Schwartzberg, Kalpana Manthiram, Daniel L. Kastner, Polly J. Ferguson, Pamela A. Mudd, Julie Le, Kathryn M. Edwards, Fatma Dedeoglu, Gary S. Marshall, Anne Jones, Selcan Demir, Alexander E. Katz, Henry M. Feder, Yuriy Stepanovskiy, Amanda K. Ombrello, Maranda Lawton, Ahmet Gül, Beverly K. Barham, Karyl S. Barron, Sivia K. Lapidus, Elaine F. Remmers, Seza Ozen, Greg R. Licameli, Silvia Preite, Olcay Y Jones, Settara C. Chandrasekharappa, Hemalatha Srinivasalu
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance In this report we identify genetic susceptibility variants for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, the most common periodic fever syndrome in children. PFAPA shares risk loci at IL12A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13768e193470e87b0f674e1800c72e56
https://doi.org/10.1073/pnas.2002051117
https://doi.org/10.1073/pnas.2002051117
Autor:
Natasha Silke, Manfred Boehm, Amanda K. Ombrello, Ivona Aksentijevich, Deborah L. Stone, Tina Romeo, Marco J Herold, Laurens Wachsmuth, Christine Biben, Beverly K. Barham, Lin Liu, Andrew J. Gross, Sergio D. Rosenzweig, Patrycja Hoffmann, Natalia Sampaio Moura, Gustavo Gutierrez-Cruz, Daniel L. Kastner, Steven E. Boyden, Kristien J. M. Zaal, Anne K. Voss, Holly Anderton, Anne Jones, Hongying Wang, Tobias Kratina, John Silke, Michael J. Lenardo, James C. Mullikin, Kate E. Lawlor, David B. Beck, Mark D. McKenzie, Amanda Light, Anthony K. Shum, Jae Jin Chae, Massimo Gadina, Qing Zhou, Diep Chau, Gineth Pinto-Patarroyo, Hirotsugu Oda, Geryl Wood, Mary Blake, Nima Etemadi, Kristy Shield-Artin, Edwin D. Hawkins, Monique Stoffels, Cathrine Hall, Dan Yang, Wanxia Li Tsai, Hye Sun Kuehn, Natalia I. Dmitrieva, Seth L. Masters, Lixin Zheng, Andrew J. Kueh, Manolis Pasparakis, Najoua Lalaoui
Publikováno v:
Nature
Nature, vol 577, iss 7788
Nature, vol 577, iss 7788
Receptor Interacting Protein Kinase 1 (RIPK1) is a key regulator of innate immune signalling pathways. To ensure an optimal inflammatory response, RIPK1 is post-translationally regulated by well characterised ubiquitylation and phosphorylation events
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9a3bb64e2ed7e5ed42a46b65bfc0fb6
https://doi.org/10.1038/s41586-019-1828-5
https://doi.org/10.1038/s41586-019-1828-5
Autor:
Sherry L. Sheldon, Karyl S. Barron, Tina Romeo, Camilo Toro, Willy A. Flegel, Deborah L. Stone, Jing Qin, Daniel L. Kastner, Patrycja Hoffmann, Anne Jones, Susan J. Kelly, Natalie Deuitch, Qing Zhou, Ada Man, Parag Kumar, Gineth Pinto-Patarroyo, Ariane Soldatos, Amanda K. Ombrello, Ivona Aksentijevich, Beverly K. Barham, Michael S. Hershfield
Publikováno v:
N Engl J Med
Adenosine Deaminase 2 Deficiency and TNF Inhibition The manifestations of a deficiency of adenosine deaminase 2, a genetic disease, include early-onset lacunar stroke. In a series of 15 patients wi...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::285344296dd682a52f7877e642c760ae
https://pubmed.ncbi.nlm.nih.gov/30995379
https://pubmed.ncbi.nlm.nih.gov/30995379
Autor:
Katherine R. Calvo, Bradford B. Worrall, Patrycja Hoffmann, David E. Kleiner, Wanxia L. Tsai, Andrey Zavialov, Raman Sood, Alisa Gotte, Susan J. Kelly, Shawn M. Burgess, Stephen S. Rich, Hye Sun Kuehn, Thomas A. Fleisher, Martha Quezado, Amanda K. Ombrello, Sophie Hambleton, Michael S. Hershfield, Anne Jones, Dan Yang, John S. Barber, Camilo Toro, Manfred Boehm, Chyi-Chia Richard Lee, Ivona Aksentijevich, Omer Karadag, Karyl S. Barron, James C. Mullikin, Geryl Wood, Elizabeth Chalom, David T. Chin, Edward W. Cowen, Deborah L. Stone, Susan Moir, Troy R. Torgerson, Anton V. Zavialov, Virginia Pascual, Wuhong Pei, Jae Jin Chae, Nora G. Singer, Alexander Ling, Mario Abinun, Fabio Candotti, Scott E. Kasner, Elaine F. Remmers, Seza Ozen, Daniel L. Kastner, Raphaela Goldbach-Mansky, Nancy J. Ganson, Theo Heller, Marilynn Punaro, James W. Verbsky, Nicholas J. Patronas, Hawwa Alao, Christopher Silvin, Beverly K. Barham, Timothy R. Gershon, Kevin Bishop, Heidi H. Kong, Alejandra Negro, Sergio D. Rosenzweig, James F. Meschia, Massimo Gadina, Joshua D. Milner, Qing Zhou
Publikováno v:
New England Journal of Medicine. 370:911-920
BackgroundWe observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We suspected a genetic cause becaus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa6675df8a4b1d93af13859fa77c23d4
https://doi.org/10.1056/nejmoa1307361
https://doi.org/10.1056/nejmoa1307361
Autor:
Ronald M. Laxer, Settara C. Chandrasekharappa, Yuan Zhang, Monique Stoffels, Xiaomin Yu, Annet Van Royen-Kerkof, Daniella M. Schwartz, Sarfaraz Hasni, Qing Zhou, Seza Ozen, Eric P. Hanson, Helen L. Leavis, Celeste Chen, Deborah L. Stone, Jonathan J. Lyons, Daniel L. Kastner, Ezgi Deniz Batu, Patrycja Hoffmann, Wanxia Li Tsai, Hongying Wang, Ingrid E. Wertz, Masaki Takeuchi, Joshua D. Milner, Zhen Yu, Anne Jones, Jae Jin Chae, Ahmet Gül, James C. Mullikin, Dan Yang, Manfred Boehm, David T. Chin, Erkan Demirkaya, Amanda K. Ombrello, Cailin H. Sibley, Ivona Aksentijevich, Kristien J. M. Zaal, Massimo Gadina, Richard M. Siegel, Yong Hwan Park, Beverly K. Barham, Claudia Ouyang
Publikováno v:
Paediatrics Publications
Nature genetics
Nature Genetics, 48(1), 67–73. Nature Publishing Group
Nature genetics
Nature Genetics, 48(1), 67–73. Nature Publishing Group
Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity. Herein we describe a new disease caused by high-penetrance heterozygous germline mutations in TNFAIP3, which encodes the NF-κB regulatory protein A20, in six un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cabf0ac62097b01705876f580b78df12
https://ir.lib.uwo.ca/paedpub/1118
https://ir.lib.uwo.ca/paedpub/1118
Autor:
Hong-Wei Sun, Silvia Stojanov, Karyl S. Barron, Anne Jones, Robert A. Colbert, Kathryn M. Edwards, Henry M. Feder, Juan C. Salazar, Puja Chitkara, Raphaela Goldbach-Mansky, Sivia K. Lapidus, Beverly K. Barham, Michael M. Ward, Thomas A. Fleisher, Geryl Wood, Daniel L. Kastner, Ivona Aksentijevich, Balu Athreya, Margaret R. Brown
Publikováno v:
Proceedings of the National Academy of Sciences. 108:7148-7153
The syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is the most common periodic fever disease in children. However, the pathogenesis is unknown. Using a systems biology approach we analyzed blood samples fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bed8db7548e13e64a04df0ad17166d12
https://doi.org/10.1073/pnas.1103681108
https://doi.org/10.1073/pnas.1103681108
Autor:
Frank Pucino, Christopher Snyder, Robert Wesley, Scott Mellis, Raphaela Goldbach-Mansky, Daniel L. Kastner, Steven P. Weinstein, Tuyet-Hang Pham, Mildred Wilson, Beverly K. Barham, Sharukh D. Shroff, Sara Plehn, Joanne Papadopoulos
Publikováno v:
Arthritis & Rheumatism. 58:2432-2442
Objective Familial cold autoinflammatory syndrome (FCAS) is caused by mutations in the CIAS1 gene, leading to excessive secretion of interleukin-1β (IL-1β), which is associated with cold-induced fevers, joint pain, and systemic inflammation. This p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93e33cf53d8c2498903282f7b68983e0
https://doi.org/10.1002/art.23620
https://doi.org/10.1002/art.23620
Autor:
Hong-Wei Sun, Matthew G. Booty, Deborah L. Stone, Raphaela Goldbach-Mansky, Daniel L. Kastner, James Greene, John G. Ryan, James E. Balow, Ariel C. Bulua, Jae Jin Chae, Beverly K. Barham, Ivona Aksentijevich
Publikováno v:
Annals of the rheumatic diseases. 72(6)
ObjectiveTo analyse gene expression patterns and to define a specific gene expression signature in patients with the severe end of the spectrum of cryopyrin-associated periodic syndromes (CAPS). The molecular consequences of interleukin 1 inhibition
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84cfa3fddd95b091a192f70b85d8def4
https://pubmed.ncbi.nlm.nih.gov/23223423
https://pubmed.ncbi.nlm.nih.gov/23223423
Autor:
Anne Jones, Puja Chitkara, S. Stojanov, Michael M. Ward, Peter W. Kim, Daniel L. Kastner, Sivia K. Lapidus, Elaine F. Remmers, Beverly K. Barham, Ivona Aksentijevich, Karyl S. Barron, Henry M. Feder
Publikováno v:
Pediatric Rheumatology Online Journal
Pediatric Rheumatology Online Journal, Vol 10, Iss Suppl 1, p A86 (2012)
Pediatric Rheumatology Online Journal, Vol 10, Iss Suppl 1, p A86 (2012)
Methods PFAPA patients were prospectively recruited. All patients had genetic testing to exclude mutations in the known fever genes (MVK, MEFV, TNFRSF1A, NLRP3, and ELA2). These PFAPA patients have been classified as sporadic or familial cases based
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c37029264a7b761ab6df41f6d5de7372
https://doi.org/10.1186/1546-0096-10-s1-a86
https://doi.org/10.1186/1546-0096-10-s1-a86
Autor:
Matthew G. Booty, Beverly K. Barham, Karyl S. Barron, Jae Jin Chae, Seth L. Masters, Elaine F. Remmers, Steve M Holland, Daniel L. Kastner, Ivona Aksentijevich, Julie M. Le
Publikováno v:
Arthritis and rheumatism. 60(6)
Familial Mediterranean fever (FMF) has traditionally been considered an autosomal-recessive disease; however, it has been observed that a substantial number of patients with clinical FMF possess only 1 demonstrable MEFV mutation. The purpose of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3d4b65eaab1b07cfa9cb64b69b16eea
https://pubmed.ncbi.nlm.nih.gov/19479854
https://pubmed.ncbi.nlm.nih.gov/19479854