COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA-Reference-Cited by-同舟云学术

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Published:2017-11-14 Issue:1 Volume:18 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Jensson Brynjar O.,Hansdottir Sif,Arnadottir Gudny A.,Sulem Gerald,Kristjansson Ragnar P.,Oddsson Asmundur,Benonisdottir Stefania,Jonsson Hakon,Helgason Agnar,Saemundsdottir Jona,Magnusson Olafur T.,Masson Gisli,Thorisson Gudmundur A.,Jonasdottir Adalbjorg,Jonasdottir Aslaug,Sigurdsson Asgeir,Jonsdottir Ingileif,Petursdottir Vigdis,Kristinsson Jon R.,Gudbjartsson Daniel F.,Thorsteinsdottir Unnur,Arngrimsson Reynir,Sulem Patrick^ORCID,Gudmundsson Gunnar,Stefansson Kari

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-017-0490-8.pdf

Reference14 articles.

1. Vece TJ, Watkin LB, Nicholas SK, Canter D, Braun MC, Guillerman RP, et al. Copa syndrome: a novel Autosomal dominant immune Dysregulatory disease. J Clin Immunol. 2016;36:377–87. doi: 10.1007/s10875-016-0271-8 .

2. Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, et al. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015;47:654–60. doi: 10.1038/ng.3279 .

3. Eugster A, Frigerio G, Dale M, Duden R. COP I domains required for coatomer integrity, and novel interactions with ARF and ARF-GAP. EMBO J. 2000;19:3905–17. doi: 10.1093/emboj/19.15.3905 .

4. Neer EJ, Schmidt CJ, Nambudripad R, Smith TF. The ancient regulatory-protein family of WD-repeat proteins. Nature. 1994;371:297–300. doi: 10.1038/371297a0 .

5. Li D, Roberts R. WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases. Cell Mol Life Sci. 2001;58:2085–97. http://www.ncbi.nlm.nih.gov/pubmed/11814058

Cited by 48 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Single gene defects and autoinflammation;Dubois' Lupus Erythematosus and Related Syndromes;2025

2. Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinﬂammatory syndrome;Journal of Clinical Investigation;2024-01-04

3. Atteinte pulmonaire dans les maladies auto-inflammatoires;Revue des Maladies Respiratoires;2024-01

4. Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome;Journal of Clinical Immunology;2023-10-10

5. Monogenic autoinflammatory syndromes with features of systemic vasculitis: a new field of rheumatology;Rheumatology Science and Practice;2023-08-31