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TNXB-Related Classical-Like Ehlers-Danlos Syndrome.
van Dijk FS, Ghali N, Demirdas S, Baker D. van Dijk FS, et al. 2022 Sep 15. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2022 Sep 15. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 36108117 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: The clinical features of TNXB-related classical-like Ehlers-Danlos syndrome (clEDS) strongly resemble those seen in classic EDS (cEDS). ...Once the TNXB pathogenic variants have been identified in an affected family member, carrier testing …
CLINICAL CHARACTERISTICS: The clinical features of TNXB-related classical-like Ehlers-Danlos syndrome (clEDS) strongly resemble those …
Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module.
Lee HH. Lee HH. Mol Genet Metab. 2005 Jan;84(1):4-8. doi: 10.1016/j.ymgme.2004.09.009. Epub 2004 Nov 11. Mol Genet Metab. 2005. PMID: 15639189 Review.
The sequence organization of the gene array is C4A-CYP21P/CYP21-TNXB, whereas chimera TNXA/TNXB is caused by a CYP21 deletion, and a partial TNXB replaced by the TNXA gene shows the C4A-CYP21P-TNXA/TNXB sequence. Therefore, chimeras CYP21P/CYP21 and TN …
The sequence organization of the gene array is C4A-CYP21P/CYP21-TNXB, whereas chimera TNXA/TNXB is caused by a CYP21 deletion, …
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.
Micale L, Guarnieri V, Augello B, Palumbo O, Agolini E, Sofia VM, Mazza T, Novelli A, Carella M, Castori M. Micale L, et al. Genes (Basel). 2019 Nov 25;10(12):967. doi: 10.3390/genes10120967. Genes (Basel). 2019. PMID: 31775249 Free PMC article.
TNXB-related classical-like Ehlers-Danlos syndrome (TNXB-clEDS) is an ultrarare type of Ehlers-Danlos syndrome due to biallelic null variants in TNXB, encoding tenascin-X. ...Here, we report two unrelated Italian women with TNXB-clEDS due to compound h …
TNXB-related classical-like Ehlers-Danlos syndrome (TNXB-clEDS) is an ultrarare type of Ehlers-Danlos syndrome due to bialleli …
Tenascin-X Mediates Flow-Induced Suppression of EndMT and Atherosclerosis.
Liang G, Wang S, Shao J, Jin YJ, Xu L, Yan Y, Günther S, Wang L, Offermanns S. Liang G, et al. Circ Res. 2022 May 27;130(11):1647-1659. doi: 10.1161/CIRCRESAHA.121.320694. Epub 2022 Apr 21. Circ Res. 2022. PMID: 35443807 Free article.
When EC-Tnxb-KO mice were subjected to partial carotid artery ligation, we observed increased vascular remodeling. EC-Tnxb-KO mice crossed to low-density lipoprotein receptor-deficient mice showed advanced atherosclerotic lesions after being fed a high-fat diet. ...
When EC-Tnxb-KO mice were subjected to partial carotid artery ligation, we observed increased vascular remodeling. EC-Tnxb-KO …
Circular RNA PDK1 targets miR-4731-5p to enhance TNXB expression in ligamentum flavum hypertrophy.
Zhang K, Wang X, Zeng LT, Yang X, Cheng XF, Tian HJ, Chen C, Sun XJ, Zhao CQ, Ma H, Zhao J. Zhang K, et al. FASEB J. 2023 May;37(5):e22877. doi: 10.1096/fj.202200022RR. FASEB J. 2023. PMID: 37014317
The expression of TNXB was promoted by circPDK1; contrary results were observed with miR-4731-5p. Co-overexpression of miR-4731-5p partially reversed the proliferative and fibrosis-prompting effects of circPDK1 or TNXB. The circPDK1-miR-4731-TNXB pathway may …
The expression of TNXB was promoted by circPDK1; contrary results were observed with miR-4731-5p. Co-overexpression of miR-4731-5p pa …
Integrated proteogenomic characterization of medullary thyroid carcinoma.
Shi X, Sun Y, Shen C, Zhang Y, Shi R, Zhang F, Liao T, Lv G, Zhu Z, Jiao L, Li P, Xu T, Qu N, Huang N, Hu J, Zhang T, Gu Y, Qin G, Guan H, Pu W, Li Y, Geng X, Zhang Y, Chen T, Huang S, Zhang Z, Ge S, Wang W, Xu W, Yu P, Lu Z, Wang Y, Guo L, Wang Y, Guo T, Ji Q, Wei W. Shi X, et al. Cell Discov. 2022 Nov 8;8(1):120. doi: 10.1038/s41421-022-00479-y. Cell Discov. 2022. PMID: 36344509 Free PMC article.
Furthermore, we explored putative therapeutic targets of each proteomic subtype, and found that two tenascin family members TNC/TNXB might serve as potential prognostic biomarkers for MTC. Collectively, our study expands the knowledge of MTC biology and therapeutic vulnera …
Furthermore, we explored putative therapeutic targets of each proteomic subtype, and found that two tenascin family members TNC/TNXB …
A functional variant in TNXB promoter associates with the risk of esophageal squamous-cell carcinoma.
Yang N, Tian J, Wang X, Mei S, Zou D, Peng X, Zhu Y, Yang Y, Gong Y, Ke J, Zhong R, Chang J, Miao X. Yang N, et al. Mol Carcinog. 2020 Apr;59(4):439-446. doi: 10.1002/mc.23166. Epub 2020 Feb 13. Mol Carcinog. 2020. PMID: 32056283
However, the functional role of TNXB and causal variants had not been interrogated in that study. ...We found TNXB was downregulated in ESCC tumors. Using small interfering RNAs and CRISPR-Cas9 methods, we identified that both knockdown and knockout of TNXB s …
However, the functional role of TNXB and causal variants had not been interrogated in that study. ...We found TNXB was downreg …
A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
Lao Q, Mallappa A, Rueda Faucz F, Joyal E, Veeraraghavan P, Chen W, Merke DP. Lao Q, et al. Mol Genet Genomic Med. 2021 Feb;9(2):e1556. doi: 10.1002/mgg3.1556. Epub 2020 Dec 17. Mol Genet Genomic Med. 2021. PMID: 33332743 Free PMC article.
Most patients with CAH-X carry a contiguous gene deletion involving CYP21A2 encoding 21-hydroxylase and TNXB encoding tenascin-X (TNX), but some are of unknown etiology. METHODS: We conducted clinical evaluation and medical history review of EDS-related manifestations in s …
Most patients with CAH-X carry a contiguous gene deletion involving CYP21A2 encoding 21-hydroxylase and TNXB encoding tenascin-X (TNX …
TNXB mutations can cause vesicoureteral reflux.
Gbadegesin RA, Brophy PD, Adeyemo A, Hall G, Gupta IR, Hains D, Bartkowiak B, Rabinovich CE, Chandrasekharappa S, Homstad A, Westreich K, Wu G, Liu Y, Holanda D, Clarke J, Lavin P, Selim A, Miller S, Wiener JS, Ross SS, Foreman J, Rotimi C, Winn MP. Gbadegesin RA, et al. J Am Soc Nephrol. 2013 Jul;24(8):1313-22. doi: 10.1681/ASN.2012121148. Epub 2013 Apr 25. J Am Soc Nephrol. 2013. PMID: 23620400 Free PMC article.
Immunohistochemical studies revealed that the human uroepithelial lining of the ureterovesical junction expresses TNXB, suggesting that TNXB may be important for generating tensile forces that close the ureterovesical junction during voiding. Taken together, these r …
Immunohistochemical studies revealed that the human uroepithelial lining of the ureterovesical junction expresses TNXB, suggesting th …
Clinical and molecular delineation of classical-like Ehlers-Danlos syndrome through a comprehensive next-generation sequencing-based screening system.
Yamaguchi T, Yamada K, Nagai S, Nishikubo T, Koitabashi N, Minami-Hori M, Matsushima M, Shibata Y, Ishiguro H, Sanai H, Fujikawa T, Takiguchi Y, Matsumoto KI, Kosho T. Yamaguchi T, et al. Front Genet. 2023 Aug 30;14:1234804. doi: 10.3389/fgene.2023.1234804. eCollection 2023. Front Genet. 2023. PMID: 37712068 Free PMC article.
Classical-like Ehlers-Danlos syndrome (clEDS) is an autosomal recessive disorder caused by complete absence of tenascin-X resulting from biallelic variation in TNXB. Thus far, 50 patients from 43 families with biallelic TNXB variants have been identified. ...Therefo …
Classical-like Ehlers-Danlos syndrome (clEDS) is an autosomal recessive disorder caused by complete absence of tenascin-X resulting from bia …
200 results