[PDF][PDF] Systemic sclerosis: one year in review 2022

G Lepri, M Orlandi, M Di Battista… - Clin Exp …, 2022 - clinexprheumatol.org
Systemic sclerosis (SSc) is an autoimmune disease characterised by microvasculopathy,
immune dysregulation, and skin and visceral organ fibrosis. Every year novel insights into …

Recent advances in elucidating the genetic basis of systemic sclerosis

G Villanueva-Martín, J Martín… - Current Opinion in …, 2022 - journals.lww.com
Early diagnosis and clinical management of SSc and SSc-related complications are still
challenging for rheumatologists. The development of predictive models and tools using …

Integrative epigenomics in Sjögren´ s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature

M Teruel, G Barturen, M Martínez-Bueno… - Scientific reports, 2021 - nature.com
Primary Sjögren's syndrome (SS) is a systemic autoimmune disease characterized by
lymphocytic infiltration and damage of exocrine salivary and lacrimal glands. The etiology of …

Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants

O Castellini-Pérez, E Povedano, G Barturen… - NPJ Genomic …, 2024 - nature.com
The heterogeneity of systemic lupus erythematosus (SLE) can be explained by epigenetic
alterations that disrupt transcriptional programs mediating environmental and genetic risk …

Cell Type–Specific Biomarkers of Systemic Sclerosis Disease Severity Capture Cell‐Intrinsic and Cell‐Extrinsic Circuits

JS Berkowitz, T Tabib, H Xiao, GM Sadej… - Arthritis & …, 2023 - Wiley Online Library
Objective Systemic sclerosis (SSc) is a multifactorial autoimmune fibrotic disorder involving
complex rewiring of cell‐intrinsic and cell‐extrinsic signaling coexpression networks …

Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis

M Kerick, M Acosta-Herrera, CP Simeón-Aznar… - NPJ genomic …, 2022 - nature.com
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 …

Negative causal exploration of systemic sclerosis: a Mendelian randomization analysis

Z Han, P Han, F Wang, H Zheng, X Chen, H Meng… - Scientific Reports, 2024 - nature.com
Systemic sclerosis (SSc), also known as scleroderma, is an autoimmune-related connective
tissue disease with a complex and unknown pathophysiological mechanism with genes …

Biomarkers reflecting the pathogenesis, clinical manifestations, and guide therapeutic approach in systemic sclerosis: a narrative review

A Bazsó, P Szodoray, Y Shoenfeld, E Kiss - Clinical Rheumatology, 2024 - Springer
Systemic sclerosis (SSc) is a progressive autoimmune disorder that mainly affects the skin.
There are other clinical manifestations as renal, pulmonary, cardiovascular, and …

The Lupus Epigenome Relates to Genetics, Transcription and Serological Profiles with Dependency on Molecular Subtypes and Informs Drug Discovery

O Castellini-Pérez, G Barturen, M Martínez-Bueno… - medRxiv, 2023 - medrxiv.org
Objective The heterogeneity of systemic lupus erythematosus (SLE) can be explained by
epigenetic alterations that disrupt transcriptional programs mediating environmental and …

Deciphering the genetic basis of systemic sclerosis

G Villanueva Martin - 2024 - digibug.ugr.es
Systemic sclerosis, or scleroderma (SSc), is a complex immunemediated inflammatory
disorder. SSc pathogenesis involves a triad of factors: immunological imbalance …