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Systemic scleroderma is a rare disease, with an annual incidence that varies in different populations. Estimates of incidence (new cases per million people) range from 3.7 to 43 in the United Kingdom and Europe, 7.2 in Japan, 10.9 in Taiwan, 12.0 to 22.8 in Australia, 13.9 to 21.0 in the United States, and 21.2 in Buenos Aires. [ 48 ]
Scleroderma is caused by genetic and environmental factors. [ 4 ] [ 5 ] [ 17 ] [ 18 ] Mutations in HLA genes seem to play a crucial role in the pathogenesis of some cases; likewise silica , aromatic and chlorinated solvents, ketones , trichloroethylene , welding fumes, and white spirits exposure seems to contribute to the condition in a small ...
Anti Scl-70 antibodies (also called anti-topoisomerase I after the type I topoisomerase target [1]) is a type of antinuclear autoantibody seen mainly in diffuse systemic scleroderma, but is also seen the more limited form of systemic scleroderma called CREST syndrome. [2]
Anti-centromere antibodies are associated with limited cutaneous systemic sclerosis, also known as CREST syndrome, primary biliary cirrhosis and proximal scleroderma. [44] There are six known antigens, which are all associated with the centromere; CENP-A to CENP-F. CENP-A is a 17kDa histone H3-like protein.
Systemic sclerosis (progressive systemic scleroderma), a rare, chronic disease which affects the skin, and in some cases also blood vessels and internal organs. Tuberous sclerosis , a rare genetic disease which affects multiple systems.
Anti-Scl-70 (also called anti-topoisomerase I after the type I topoisomerase target [1]) is an anti-topoisomerase antibody-type of anti-nuclear autoantibodies, seen mainly in diffuse systemic scleroderma (with a sensitivity of 28–70%), but is also seen in 10–18% of cases of the more limited form of systemic scleroderma called CREST syndrome. [2]
1281 12825 Ensembl ENSG00000168542 ENSMUSG00000026043 UniProt P02461 P08121 RefSeq (mRNA) NM_000090 NM_001376916 NM_009930 RefSeq (protein) NP_000081 NP_034060 Location (UCSC) Chr 2: 188.97 – 189.01 Mb Chr 1: 45.35 – 45.39 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Type III Collagen is a homotrimer, or a protein composed of three identical peptide chains (monomers), each ...
The Systemic Autoimmunity Branch focuses on unraveling the fundamental mechanisms that lead to the development and perpetuation of systemic autoimmune disorders, particularly systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA), and their associated organ damage. By identifying the mechanisms of tissue damage in SLE and RA, the ...
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