Recombinant Human Tenascin-X (TNXB)

1. mRNA for tenascin-X gene values was higher in ventricular septal defects. PMID: 29470764
2. Hypermethylated sites at TNXB are associagted with response to starvation in anorexia nervosa. PMID: 27367046
3. Study describes a biallelic TNXB variants in patients with congenital adrenal hyperplasia due to CYP21A2 deletions resulting in a classical Ehlers-Danlos syndrome phenotype with skin hyperextensibility, widened atrophic scars and joint hypermobility. PMID: 27297501
4. patients with the TNX-deficient type EDS typically have generalized joint hypermobility, skin hyperextensibility and easy bruising. In contrast to the classical type, the inheritance pattern is autosomal recessive and atrophic scarring is absent. Molecular analysis of TNXB in a diagnostic setting is challenging. PMID: 27582382
5. the identification of a rare missense variant in TNXB in combination with a positive family history of VUR and joint hypermobility may represent a non-invasive method to diagnose PVUR and warrants further evaluation in other cohorts PMID: 26408188
6. We then quantified the tenascin-X level in serum of patients and identified tenascin-X as potent marker for ovarian cancer, showing that secretomic analysis is suitable for the identification of protein biomarkers when combined with protein immunoassay. PMID: 26090390
7. It plays regulatory roles in collagen functions such as fibril organization and fibrillogenesis in calcific aortic valves. PMID: 25926574
8. these results suggest that mutations in TNXB can cause hereditary primary vesicoureteral reflux . PMID: 23620400
9. Noticeable decreased expression of tenascin-X in calcific aortic valves. PMID: 22827484
10. Tenascin-X haploinsufficiency was associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia PMID: 23284009
11. no difference in genotype frequency was detected between patients who experienced a re-dislocation after the initial surgery and patients who did not sustain a re-dislocation. PMID: 22991340
12. Genome-wide association study of age-related macular degeneration identifies TNXB, FKBPL and NOTCH4 as candidate susceptibility genes. PMID: 22694956
13. Combined analysis of tenascin-C expression and the nodule size improved the prediction of malignancy in this patient cohort. PMID: 22588153
14. rs204887 itself or a nearby variant is unlikely to play a major role in the development of schizophrenia although a cumulative contribution of rare variants in the TNXB gene cannot be ruled out. PMID: 21317684
15. Three point mutations in TNX gene were found to be associated with hypermobility type Ehlers-Danlos syndrome (EDS) . The phenotypic effects of V1195M mutation on 7th fibronectin Type III domain (TNXfn7) with regards to EDS were investigated. PMID: 20853426
16. localization and analysis of the principal promoter for human tenascin-X PMID: 12376099
17. chromosomal mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase gene and a non-functional hybrid tenascin-X gene PMID: 12746407
18. The transmission disequilibrium test did not show allelic association between these two TNXB single nucleotide polymorphisms and schizophrenia, and the rs1009382-rs204887 haplotypes were not associated with the illness either. PMID: 14729256
19. Both elastic fiber abnormalities and reduced collagen content contribute to the observed phenotype in TNX-deficient patients. PMID: 15102077
20. different distributions of tenascin-C and -X were found around the epithelium and the endomysium of the mental symphyseal region, and affect the specific formation of the mandible during ossification in the fetus PMID: 15455729
21. elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome are specific for TNX-haploinsufficient individuals and confirm an important role for TNX in regulating elastic fiber integrity PMID: 15733269
22. Tenascin-X expression is markedly decreased in AAA tissue, and AAA is associated with high serum concentrations of tenascin-X. PMID: 16567571
23. TNX contributes to matrix stability and is possibly involved in collagen fibril formation. PMID: 17033827
24. Association of the TNXB locus or its adjacent region of the NOTCH4 locus with schizophrenia. PMID: 17192952
25. TNXB and TNC may be involved in the malignant transformation of plexiform neurofibromas PMID: 17202312
26. Multiple species of TNX in blood were identified and characterized. PMID: 17263730
27. TNX is unlikely to be involved in matrix deposition in the early phase of wound healing, but it is required in the later phase when remodeling and maturation of the matrix establishes and improves its biomechanical properties. PMID: 17453911
28. TNXB(tenascin XB protein) gene is a candidate gene susceptible to Systemic lupus erythematosus in the Japanese population. PMID: 18058064
29. This study showed different patterns of expression of tenascin and fibronectin along the process of tumorigenesis and tumor progression in pleomorphic adenoma, a fact that might play a role in invasion properties of these tumors. PMID: 18091320
30. Data indicate a complex architecture of the extracellular matrix in the uterosacral ligaments, with marked differences in tenascin and elastin expression between postmenopausal women with or without pelvic organ prolapse. PMID: 18155129
31. TNX-deficient women are at risk of obstetric complications. PMID: 18335242
32. These results suggest possible involvement of XB-S in the function of Eg5. PMID: 18679583
33. Tenascin-X may be a new diagnostic marker of malignant mesothelioma in the differential diagnosis of cancers involving the serosal cavities. PMID: 19738457

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HGNC: 11976

OMIM: 600985

KEGG: hsa:7148

STRING: 9606.ENSP00000407685

UniGene: Hs.485104