U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 63

1.
Childhood-Onset COPA Syndrome Recognized Retrospectively in the Context of Polyarticular Juvenile Idiopathic Arthritis and Rheumatoid Arthritis
Roko P. A. Nikolic, Cristina Moran Toro
Case Rep Rheumatol. 2023; 2023: 3240245. Published online 2023 Jun 13. doi: 10.1155/2023/3240245
PMCID:
PMC10281826
AbstractArticlePDF–666K
2.
Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder
Xiao Li, Yu Tang, Lei Zhang, Yuan Wang, Weihua Zhang, Ying Wang, Yuelin Shen, Xiaolei Tang
Front Pediatr. 2023; 11: 1118097. Published online 2023 Mar 9. doi: 10.3389/fped.2023.1118097
PMCID:
PMC10034176
AbstractArticlePDF–9.0M
3.
copa-1 mutants experience heightened endoplasmic reticulum stress sensitivity in a C. elegans COPA Syndrome model
Kerry A. Larkin, Izabella Zafra, Andy Golden
MicroPubl Biol. 2023; 2023: 10.17912/micropub.biology.000696. Published online 2023 Jan 20. doi: 10.17912/micropub.biology.000696
PMCID:
PMC9898814
AbstractArticlePDF–18M
4.
Management of a Novel Autoimmune Disease, COPA Syndrome, in Pregnancy
Archana Ayyar, Rachel D. Seaman, Kalpalatha Guntupalli, Mary C. Tolcher
Case Rep Obstet Gynecol. 2022; 2022: 4865985. Published online 2022 Mar 2. doi: 10.1155/2022/4865985
PMCID:
PMC8906991
AbstractArticlePDF–309K
5.
A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review
Jingxia Zeng, Jing Hao, Wei Zhou, Zhaoqun Zhou, Hongjun Miao
Front Pediatr. 2021; 9: 773112. Published online 2021 Nov 24. doi: 10.3389/fped.2021.773112
PMCID:
PMC8654191
AbstractArticlePDF–1021K
6.
IL‐6 receptor blockade for allograft dysfunction after lung transplantation in a patient with COPA syndrome
Peter Riddell, Sajad Moshkelgosha, Liran Levy, Nina Chang, Prodipto Pal, Kieran Halloran, Phil Halloran, Michael Parkes, Lianne G Singer, Shaf Keshavjee, Tereza Martinu, Stephen C Juvet
Clin Transl Immunology. 2021; 10(2): e1243. Published online 2021 Jan 28. doi: 10.1002/cti2.1243
PMCID:
PMC7843402
AbstractArticlePDF–1.9M
7.
A defect in COPI-mediated transport of STING causes immune dysregulation in COPA syndrome
Zimu Deng, Zhenlu Chong, Christopher S. Law, Kojiro Mukai, Frances O. Ho, Tereza Martinu, Bradley J. Backes, Walter L. Eckalbar, Tomohiko Taguchi, Anthony K. Shum
J Exp Med. 2020 Nov 2; 217(11): e20201045. Published online 2020 Jul 28. doi: 10.1084/jem.20201045
PMCID:
PMC7596814
AbstractArticlePDF–4.2M
8.
Lung Transplantation in a Patient with COPA Syndrome
Jorge M. Mallea, Anna Kornafeld, Andras Khoor, David B. Erasmus
Case Rep Transplant. 2020; 2020: 3624795. Published online 2020 Mar 31. doi: 10.1155/2020/3624795
PMCID:
PMC7152970
AbstractArticlePDF–796K
9.
Baricitinib in therapy of COPA syndrome in a 15-year-old girl
Sophia Krutzke, Christoph Rietschel, Gerd Horneff
Eur J Rheumatol. 2020 Feb; 7(Suppl 1): S78–S81. Published online 2019 Aug 20. doi: 10.5152/eurjrheum.2019.18177
PMCID:
PMC7004263
AbstractArticlePDF–537K
10.
Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features
Angelo M Taveira-DaSilva, Thomas C Markello, David E Kleiner, Amanda M Jones, Catherine Groden, Ellen Macnamara, Tadafumi Yokoyama, William A Gahl, Bernadette R Gochuico, Joel Moss
J Med Genet. 2019 Nov; 56(11): 778–782. Published online 2018 Nov 1. doi: 10.1136/jmedgenet-2018-105560
PMCID:
PMC6860403
AbstractArticlePDF–869K
11.
Genetics of COPA syndrome
Rajni Kumrah, Babu Mathew, Pandiarajan Vignesh, Surjit Singh, Amit Rawat
Appl Clin Genet. 2019; 12: 11–18. Published online 2019 Feb 8. doi: 10.2147/TACG.S153600
PMCID:
PMC6372856
AbstractArticlePDF–1.1M
12.
Analysis of pulmonary features and treatment approaches in the COPA syndrome
Jessica L. Tsui, Oscar A. Estrada, Zimu Deng, Kristin M. Wang, Christopher S. Law, Brett M. Elicker, Kirk D. Jones, Sharon D. Dell, Gunnar Gudmundsson, Sif Hansdottir, Simon M. Helfgott, Stefano Volpi, Marco Gattorno, Michael R. Waterfield, Alice Y. Chan, Sharon A. Chung, Brett Ley, Anthony K. Shum
ERJ Open Res. 2018 Apr; 4(2): 00017-2018. Published online 2018 Jun 27. doi: 10.1183/23120541.00017-2018
PMCID:
PMC6019741
AbstractArticlePDF–659K
13.
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
Brynjar O. Jensson, Sif Hansdottir, Gudny A. Arnadottir, Gerald Sulem, Ragnar P. Kristjansson, Asmundur Oddsson, Stefania Benonisdottir, Hakon Jonsson, Agnar Helgason, Jona Saemundsdottir, Olafur T. Magnusson, Gisli Masson, Gudmundur A. Thorisson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Ingileif Jonsdottir, Vigdis Petursdottir, Jon R. Kristinsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Gunnar Gudmundsson, Kari Stefansson
BMC Med Genet. 2017; 18: 129. Published online 2017 Nov 14. doi: 10.1186/s12881-017-0490-8
PMCID:
PMC5686906
AbstractArticlePDF–475K
14.
Copa Syndrome: A Novel Autosomal Dominant Immune Dysregulatory Disease
Timothy J. Vece, Levi B. Watkin, Sarah Nicholas, Debra Canter, Michael C. Braun, R. Paul Guillerman, Karen W. Eldin, Grant Bertolet, Scott McKinley, Marietta de Guzman, Lisa Forbes, Ivan Chinn, Jordan S. Orange
J Clin Immunol. Author manuscript; available in PMC 2017 May 1.
Published in final edited form as: J Clin Immunol. 2016 May; 36(4): 377–387. Published online 2016 Apr 5. doi: 10.1007/s10875-016-0271-8
PMCID:
PMC4842120
AbstractArticlePDF–1.7M
15.
COPA syndrome caused by a novel p.Arg227Cys COPA gene variant
Yue Zheng, Yue Du, Yubin Wu, Fuwei Li, Weiyue Gu, Chengguang Zhao
Mol Genet Genomic Med. 2024 Jan; 12(1): e2309. Published online 2023 Oct 25. doi: 10.1002/mgg3.2309
PMCID:
PMC10767596
AbstractArticlePDF–2.8M
16.
Regulation of cGAS and STING signaling during inflammation and infection
Samuel D. Chauvin, W. Alexander Stinson, Derek J. Platt, Subhajit Poddar, Jonathan J. Miner
J Biol Chem. 2023 Jul; 299(7): 104866. Published online 2023 May 27. doi: 10.1016/j.jbc.2023.104866
PMCID:
PMC10316007
AbstractArticlePDF–1.9M
17.
Dysregulation of the cGAS-STING Pathway in Monogenic Autoinflammation and Lupus
Holly Wobma, Daniel S. Shin, Janet Chou, Fatma Dedeoğlu
Front Immunol. 2022; 13: 905109. Published online 2022 May 27. doi: 10.3389/fimmu.2022.905109
PMCID:
PMC9186411
AbstractArticlePDF–6.5M
18.
Deficiency in coatomer complex I causes aberrant activation of STING signalling
Annemarie Steiner, Katja Hrovat-Schaale, Ignazia Prigione, Chien-Hsiung Yu, Pawat Laohamonthonkul, Cassandra R. Harapas, Ronnie Ren Jie Low, Dominic De Nardo, Laura F. Dagley, Michael J. Mlodzianoski, Kelly L. Rogers, Thomas Zillinger, Gunther Hartmann, Michael P. Gantier, Marco Gattorno, Matthias Geyer, Stefano Volpi, Sophia Davidson, Seth L. Masters
Nat Commun. 2022; 13: 2321. Published online 2022 Apr 28. doi: 10.1038/s41467-022-29946-6
PMCID:
PMC9051092
AbstractArticlePDF–3.2M
19.
Lung Inflammation in STING-Associated Vasculopathy with Onset in Infancy (SAVI)
Clémence David, Marie-Louise Frémond
Cells. 2022 Feb; 11(3): 318. Published online 2022 Jan 18. doi: 10.3390/cells11030318
PMCID:
PMC8834229
AbstractArticlePDF–1.3M
20.
STING Operation at the ER/Golgi Interface
Tomohiko Taguchi, Kojiro Mukai, Eiko Takaya, Ruri Shindo
Front Immunol. 2021; 12: 646304. Published online 2021 May 3. doi: 10.3389/fimmu.2021.646304
PMCID:
PMC8126659
AbstractArticlePDF–1.2M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center