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PubMed:11642233 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 999-1009 gene:7148 denotes Tenascin-X
T1 1159-1181 disease:C0013720 denotes Ehlers-Danlos syndrome
R1 T0 T1 associated_with Tenascin-X,Ehlers-Danlos syndrome

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
11642233-12#0#10#gene7148 1934-1944 gene7148 denotes Tenascin-X
11642233-12#74#96#diseaseC0013720 2008-2030 diseaseC0013720 denotes Ehlers-Danlos syndrome
11642233-13#147#157#gene7148 2179-2189 gene7148 denotes tenascin-X
11642233-13#102#114#diseaseC1857276 2134-2146 diseaseC1857276 denotes the syndrome
11642233-4#236#246#gene7148 792-802 gene7148 denotes tenascin-X
11642233-4#171#191#diseaseC0003873 727-747 diseaseC0003873 denotes rheumatoid arthritis
11642233-6#0#10#gene7148 999-1009 gene7148 denotes Tenascin-X
11642233-6#76#85#diseaseC0033860 1075-1084 diseaseC0033860 denotes psoriasis
0#10#gene714874#96#diseaseC0013720 11642233-12#0#10#gene7148 11642233-12#74#96#diseaseC0013720 associated_with Tenascin-X,Ehlers-Danlos syndrome
147#157#gene7148102#114#diseaseC1857276 11642233-13#147#157#gene7148 11642233-13#102#114#diseaseC1857276 associated_with tenascin-X,the syndrome
236#246#gene7148171#191#diseaseC0003873 11642233-4#236#246#gene7148 11642233-4#171#191#diseaseC0003873 associated_with tenascin-X,rheumatoid arthritis
0#10#gene714876#85#diseaseC0033860 11642233-6#0#10#gene7148 11642233-6#76#85#diseaseC0033860 associated_with Tenascin-X,psoriasis

PubMed_Structured_Abstracts

Id Subject Object Predicate Lexical cue
T1 92-546 BACKGROUND denotes The Ehlers-Danlos syndrome is a heritable connective-tissue disorder caused by defects in fibrillar-collagen metabolism. Mutations in the type V collagen genes account for up to 50 percent of cases of classic Ehlers-Danlos syndrome, but many other cases are unexplained. We investigated whether the deficiency of the tenascins, extracellular-matrix proteins that are highly expressed in connective tissues, was associated with the Ehlers-Danlos syndrome.
T2 556-989 METHODS denotes We screened serum samples from 151 patients with the classic, hypermobility, or vascular types of the Ehlers-Danlos syndrome; 75 patients with psoriasis; 93 patients with rheumatoid arthritis; and 21 healthy persons for the presence of tenascin-X and tenascin-C by enzyme-linked immunosorbent assay. We examined the expression of tenascins and type V collagen in skin by immunohistochemical methods and sequenced the tenascin-X gene.
T3 999-1920 RESULTS denotes Tenascin-X was present in serum from all normal subjects, all patients with psoriasis, all patients with rheumatoid arthritis, and 146 of 151 patients with the Ehlers-Danlos syndrome. Tenascin-X was absent from the serum of the 5 remaining patients with Ehlers-Danlos syndrome, who were unrelated. Tenascin-X deficiency was confirmed in these patients by analysis of skin fibroblasts and by immunostaining of skin. The expression of tenascin-C and type V collagen was normal in these patients. All five of these patients had hypermobile joints, hyperelastic skin, and easy bruising, without atrophic scarring. Tenascin-X mutations were identified in all tenascin-X-deficient patients; one patient had a homozygous tenascin-X gene deletion, one was heterozygous for the deletion, and three others had homozygous truncating point mutations, confirming a causative role for tenascin-X and a recessive pattern of inheritance.
T4 1934-2241 CONCLUSIONS denotes Tenascin-X deficiency causes a clinically distinct, recessive form of the Ehlers-Danlos syndrome. This finding indicates that factors other than the collagens or collagen-processing enzymes can cause the syndrome and suggests a central role for tenascin-X in maintaining the integrity of collagenous matrix.