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Article
Raynaud phenomenon: from GWAS to drug repurposing
The identification of novel risk variants in the largest genome-wide association study of Raynaud phenomenon to date provides insights into the pathophysiology of the condition, including the potential role for α
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Article
Open AccessPhotoacoustic imaging is a novel tool to measure finger artery structure and oxygenation in patients with SSc
Systemic sclerosis (SSc)-related digital ischaemia is a major cause of morbidity, resulting from a combination of microvascular and digital artery disease. Photoacoustic imaging offers a newly available, non-i...
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Article
Open AccessComplement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis
Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases. We investigated the association of C4 CN with systemic sclerosis (SSc) risk. Imputed tot...
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Article
Skin involvement in early diffuse cutaneous systemic sclerosis: an unmet clinical need
Diffuse cutaneous systemic sclerosis (dcSSc) is associated with high mortality resulting from early internal-organ involvement. Clinicians therefore tend to focus on early diagnosis and treatment of potentiall...
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Article
Open AccessThree-dimensional optoacoustic imaging of nailfold capillaries in systemic sclerosis and its potential for disease differentiation using deep learning
The autoimmune disease systemic sclerosis (SSc) causes microvascular changes that can be easily observed cutaneously at the finger nailfold. Optoacoustic imaging (OAI), a combination of optical and ultrasound ...
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Article
Open AccessGWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previou...
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Article
RNASEH2B Related Adult-Onset Interferonopathy
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Article
Open AccessType I interferon in patients with systemic autoimmune rheumatic disease is associated with haematological abnormalities and specific autoantibody profiles
To investigate the relationships between interferon alpha (IFNα) and the clinical and serological phenotype of patients with systemic autoimmune rheumatic disease (SARDs) in order to determine whether a distin...
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Article
An international SUrvey on non-iNvaSive tecHniques to assess the mIcrocirculation in patients with RayNaud’s phEnomenon (SUNSHINE survey)
To canvas opinion concerning the role of non-invasive techniques in the assessment of patients with Raynaud’s phenomenon (Rp) in clinical and research settings: four nailfold capillaroscopy methods [videocapil...
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Article
Management of Raynaud’s Phenomenon and Digital Ischemia
This review focuses on new findings and developments relevant to the clinician caring for patients with primary and secondary [especially systemic sclerosis (SSc)-related] Raynaud phenomenon (RP). In the last ...
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Article
The pathogenesis, diagnosis and treatment of Raynaud phenomenon
Recent advances in pathogenesis and diagnosis of Raynaud phenomenon have driven, and are driving, new therapeutic strategies for this phenomenon. In this Review, Ariane Herrick provides an update of the pathog...
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Article
A local approach to Raynaud phenomenon
The current treatment options for Raynaud phenomenon are often ineffective and can have undesirable adverse effects. Topical, or transdermal, treatments that increase digital blood flow without systemic advers...
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Article
Genetic epidemiology: Systemic sclerosis
Systemic sclerosis (SSc) is a multisystem connective tissue disease characterised phenotypically by fibrosis and ischaemic atrophy. Its aetiology is most likely multifactorial. A genetic predisposition to the ...