2015
DOI: 10.3899/jrheum.140645
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A Case of Rheumatoid Arthritis Associated withSMAD3Gene Mutation: A New Clinical Entity?

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Cited by 10 publications
(7 citation statements)
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“…For SMAD3 , 40 variants were previously reported (Aubart et al., ; Berthet, Hanna, Giraud, & Soubrier, ; Blinc et al., ; Burke, Shalhub, & Starnes, ; Campens et al., ; Courtois et al., ; Fitzgerald, Bhat, Conard, Hyland, & Pizarro, ; Garcia‐Bermudez, Moustafa, Barros‐Membrilla, & Tizon‐Marcos, ; Haller et al., ; Hilhorst‐Hofstee et al., ; Martens et al., ; Nevidomskyte et al., ; Proost et al., ; Regalado et al., ; Schubert, Landis, Shikany, Hinton, & Ware, ; van de Laar et al., ; van de Laar et al., ; van der Linde et al., ; Wischmeijer et al., ; Yao et al., ; Ye et al., ; Zhang et al., ), whereas 38 probands were identified in this study, with 27 mutations that have never been reported (Table and Figure ). These SMAD3 mutations include 61% missense mutations, 23% frameshift mutations, 7% nonsense mutations, 6% splice site mutations, and 3% whole or partial gene deletions (Figure ).…”
Section: Variantsmentioning
confidence: 92%
“…For SMAD3 , 40 variants were previously reported (Aubart et al., ; Berthet, Hanna, Giraud, & Soubrier, ; Blinc et al., ; Burke, Shalhub, & Starnes, ; Campens et al., ; Courtois et al., ; Fitzgerald, Bhat, Conard, Hyland, & Pizarro, ; Garcia‐Bermudez, Moustafa, Barros‐Membrilla, & Tizon‐Marcos, ; Haller et al., ; Hilhorst‐Hofstee et al., ; Martens et al., ; Nevidomskyte et al., ; Proost et al., ; Regalado et al., ; Schubert, Landis, Shikany, Hinton, & Ware, ; van de Laar et al., ; van de Laar et al., ; van der Linde et al., ; Wischmeijer et al., ; Yao et al., ; Ye et al., ; Zhang et al., ), whereas 38 probands were identified in this study, with 27 mutations that have never been reported (Table and Figure ). These SMAD3 mutations include 61% missense mutations, 23% frameshift mutations, 7% nonsense mutations, 6% splice site mutations, and 3% whole or partial gene deletions (Figure ).…”
Section: Variantsmentioning
confidence: 92%
“…In addition, Aubart et al 163 and Regalado et al 165 categorized loss‐of‐function variants located in SMAD3 as candidate causal ones. Moreover, SMAD3 encodes a protein that plays a role in the cellular TGF‐β signalling pathway, and defects in this gene cause disorganization in the fragmentation of the elastic fibre, the media layer and collagen accumulation, all of which are involved in aortic aneurysm development 166–168 . A functional study by Ying Wang revealed that a variant of SMAD4 increased the risk of thoracic aortic aneurysms/dissections.…”
Section: Non‐coding Variants In Thoracic Aortic Aneurysms and Dissect...mentioning
confidence: 99%
“…Moreover, SMAD3 encodes a protein that plays a role in the cellular TGFβ signalling pathway, and defects in this gene cause disorganization in the fragmentation of the elastic fibre, the media layer and collagen accumulation, all of which are involved in aortic aneurysm development. [166][167][168] A functional study by Ying Wang revealed that a variant of SMAD4 increased the risk of thoracic aortic aneurysms/ dissections. Additionally, 202 thoracic aortic aneurysm/dissection cases were genotyped by five tagging SNPs of SMAD4, rs12455792, located in the 5′-UTR of SMAD4, which is a binding site for TFs.…”
Section: Non -Coding Variants In Thor Acic Aortic Aneurys Ms and Diss...mentioning
confidence: 99%
“…Aubart et al reported skeleton involvement in 100% of SMAD3 mutation carriers on X-ray or CT-scan study and recommended aorta screening in patients suffering from atypical osteoarthritis [ 4 ]. Recently, a patient with the SMAD3 mutation was demonstrated to have multiple aneurysms and rheumatoid arthritis [ 9 ]. In this study, the presence of both aneurysms and osteoarthritis prompted us to perform SMAD3 screening in this family and find a causative mutation.…”
Section: Discussionmentioning
confidence: 99%