Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Marcela A, Ferrada"'
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Pulmonary involvement in primary Sjögren's syndrome (pSS) is an understudied entity with important clinical implications. Its prevalence has been reported in up to 20% of pSS patients. Pulmonary manifestations of pSS are diverse with involvement of
Externí odkaz:
https://doaj.org/article/3fd12ad1f1eb498f9b61e807f16a5df5
Autor:
Fernanda Gutierrez-Rodrigues, Yael Kusne, Jenna Fernandez, Terra L Lasho, Ruba N Shalhoub, Xiaoyang Ma, Hugh Alessi, Christy M. Finke, Matthew J. Koster, Abhishek A. Mangaonkar, Kenneth J Warrington, Kebede Begna, Zhuoer Xie, Amanda K Ombrello, David S Viswanatha, Marcela A. Ferrada, Lorena Wilson, Ronald S. Go, Taxiarchis V. Kourelis, Kaaren K Reichard, Horatiu Olteanu, Ivana Darden, Dalton Hironaka, Lemlem Alemu, Sachiko Kajigaya, Rodrigo T. Calado, Emma M. Groarke, Sofia Rosenzweig, Daniel L Kastner, Katherine R Calvo, Colin O. Wu, Peter C. Grayson, Neal S Young, David B. Beck, Bhavisha A. Patel, Mrinal M. Patnaik
Publikováno v:
Blood Journal.
VEXAS is caused by somatic mutations in UBA1 (UBA1mut) and characterized by heterogenous systemic auto-inflammation and progressive hematologic manifestations, meeting criteria for myelodysplastic syndrome (MDS) and plasma cell dyscrasias. The landsc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb74f94ba64eb69558e9b60832dad08b
https://doi.org/10.1182/blood.2022018774
https://doi.org/10.1182/blood.2022018774
Autor:
Yiming Luo, Marcela A. Ferrada, Keith A. Sikora, Cameron Rankin, Hugh Alessi, Daniel L. Kastner, Zuoming Deng, Mengqi Zhang, Peter A. Merkel, Virginia B. Kraus, Andrew S. Allen, Peter C. Grayson
Publikováno v:
medRxiv
ObjectiveRelapsing polychondritis (RP) is a systemic inflammatory disease of unknown etiology. The study objective was to examine the contribution of rare genetic variations in RP.MethodsWe performed a case-control exome-wide rare variant association
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fec913e45a8f2e6a00febd5e71c8256
https://europepmc.org/articles/PMC10246166/
https://europepmc.org/articles/PMC10246166/
Autor:
Wanxia L. Tsai, Robert A. Colbert, Marcus Y Chen, Arlene Sirajuddin, Ryan S. Laird, Peter C. Grayson, Patrycja Hoffmann, Sinisa Savic, Marcela A. Ferrada, Emma M. Groarke, Kristina V. Wells, Massimo Gadina, Bhavisha A Patel, Mariana J. Kaplan, Keith A. Sikora, Emily Rose, Lorena Wilson, Daniel L. Kastner, Gustaf Wigerblad, Zuoming Deng, Amanda K. Ombrello, Oskar Schnappauf, Emily Rominger, Kaitlin A. Quinn, Daniela Ospina Cardona, Jeff Kim, Ivona Aksentijevich, Neal S. Young, David B. Beck, Wendy Goodspeed, Clint T. Allen, Mimi T. Le, Katherine R. Calvo, Yiming Luo, Anne Jones
Publikováno v:
Arthritis & Rheumatology. 73:1886-1895
Objective Somatic mutations in UBA1 cause a newly defined syndrome known as VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome). More than 50% of patients currently identified as having VEXAS met diagnostic criteria for relapsin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::37447f01621cbbbfbba7098afa3da792
https://doi.org/10.1002/art.41743
https://doi.org/10.1002/art.41743
Autor:
Fernanda Gutierrez-Rodrigues, Daniel L. Kastner, David B. Beck, Patrycja Hoffmann, Marcela A. Ferrada, Bhavisha A Patel, Nisha Patel, Megan Trick, Neal S. Young, Peter C. Grayson, Zhijie Wu, Ifeyinwa Emmanuela Obiorah, Daniela Ospina Cardona, Alina Dulau-Florea, Lorena Wilson, Emma M. Groarke, Weixin Wang, Katherine R. Calvo, Jennifer Lotter, Amanda K. Ombrello
Publikováno v:
Blood Adv
Somatic mutations in UBA1 involving hematopoietic stem and myeloid cells have been reported in patients with the newly defined VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Here, we report clinical hematologic manifestati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2df64cab59785aaf70a43d21a8a103f2
https://doi.org/10.1182/bloodadvances.2021004976
https://doi.org/10.1182/bloodadvances.2021004976
Autor:
David B. Beck, Dale L. Bodian, Vandan Shah, Uyenlinh L. Mirshahi, Jung Kim, Yi Ding, Natasha T. Strande, Anna Cantor, Jeremy S. Haley, Adam Cook, Wesley Hill, Peter C. Grayson, Marcela A. Ferrada, Daniel L. Kastner, David J. Carey, Douglas R. Stewart
ImportanceVEXAS (vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic) syndrome is a disease with rheumatologic and hematologic features caused by somatic variants in UBA1. Pathogenic variants are associated with a broad spec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::542c4a839bac26c694dd2056948f155f
https://doi.org/10.1101/2022.07.27.22277962
https://doi.org/10.1101/2022.07.27.22277962
Autor:
Marcela A. Ferrada, Sinisa Savic, Daniela Ospina Cardona, Jason C. Collins, Hugh Alessi, Fernanda Gutierrez-Rodrigues, Dinesh Babu Uthaya Kumar, Lorena Wilson, Wendy Goodspeed, James S. Topilow, Julie J. Paik, James A. Poulter, Tanaz A. Kermani, Matthew J. Koster, Kenneth J. Warrington, Catherine Cargo, Rachel S. Tattersall, Christopher J. A. Duncan, Anna Cantor, Patrycja Hoffmann, Elspeth M. Payne, Hanna Bonnekoh, Karoline Krause, Edward W. Cowen, Katherine R. Calvo, Bhavisha A. Patel, Amanda K. Ombrello, Daniel L. Kastner, Neal S. Young, Achim Werner, Peter C. Grayson, David B. Beck
Somatic mutations in UBA1 cause vacuoles, E1 ubiquitin-activating enzyme, X-linked, autoinflammatory somatic (VEXAS) syndrome, an adult-onset inflammatory disease with an overlap of hematologic manifestations. VEXAS syndrome is characterized by a hig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af8c674df36e5d2fbb8743262ff01d7b
https://eprints.whiterose.ac.uk/191042/1/106414_1_merged_1656075092.pdf
https://eprints.whiterose.ac.uk/191042/1/106414_1_merged_1656075092.pdf
Autor:
James S Topilow, Daniela Ospina Cardona, David B Beck, Marcela A Ferrada, Zsuzsanna H McMahan, Julie J Paik
Publikováno v:
Rheumatology (Oxford)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb987b6939ad698ea5ddefc2fd27bda9
https://europepmc.org/articles/PMC9707058/
https://europepmc.org/articles/PMC9707058/
Publikováno v:
Seminars in Hematology. 58:201-203
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc299a2d22fe017103f0e984e293364d
https://doi.org/10.1053/j.seminhematol.2021.10.005
https://doi.org/10.1053/j.seminhematol.2021.10.005
Autor:
Sarthak Gupta, Amanda K. Ombrello, Emily Rominger, Megan Trick, Karyl S. Barron, Ryan S. Laird, Sinisa Savic, Shuichiro Nakabo, Daniela Ospina Cardona, Ivona Aksentijevich, Carmelo Carmona-Rivera, Gustaf Wigerblad, Mariana J. Kaplan, Emma M. Groarke, Laura W. Dillon, Chyi-Chia Richard Lee, Kalpana Manthiram, Kristina V. Wells, Nicholas Balanda, Zhijie Wu, Helen J. Lachmann, Daniel L. Kastner, Fernanda Gutierrez-Rodrigues, Achim Werner, Michele Nehrebecky, Lisha Xu, Alina Dulau-Florea, Wanxia L. Tsai, Bhavisha A Patel, Stefania Dell'Orso, Weixin Wang, Anthony J. Asmar, Danica Novacic, Katherine R. Calvo, David B. Beck, Robert A. Colbert, Massimo Gadina, William A. Gahl, Wendy Goodspeed, Natalie Deuitch, Dorota Rowczenio, Peter C. Grayson, Daron L. Ross, Sofia Rosenzweig, Anne Jones, Christopher S. Hourigan, James C. Mullikin, Stephen R. Brooks, Jason C. Collins, Wuhong Pei, May Christine V. Malicdan, Neal S. Young, Shawn M. Burgess, Keith A. Sikora, Mones Abu-Asab, Kyle Retterer, Patrycja Hoffmann, Hirotsugu Oda, Marcela A. Ferrada, Zuoming Deng, Benjamin D. Solomon, Jae Jin Chae
Publikováno v:
New England Journal of Medicine. 383:2628-2638
Background Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99ad8cf39fc35fb40359e43ad0eff90c
https://doi.org/10.1056/nejmoa2026834
https://doi.org/10.1056/nejmoa2026834