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Tenascin-X-Discovery and Early Research.
Miller WL. Miller WL. Front Immunol. 2021 Jan 11;11:612497. doi: 10.3389/fimmu.2020.612497. eCollection 2020. Front Immunol. 2021. PMID: 33505400 Free PMC article. Review. No abstract available.
Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome.
Marino R, Moresco A, Perez Garrido N, Ramirez P, Belgorosky A. Marino R, et al. Front Endocrinol (Lausanne). 2022 Feb 25;13:803226. doi: 10.3389/fendo.2022.803226. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35282436 Free PMC article. Review.
Other duplicated genes are C4A and C4B, that encode two isoforms of complement factor C4, the RP1 gene that encodes a serine/threonine protein kinase, and the TNXB gene that, encodes the extracellular matrix glycoprotein tenascin-X (TNX). TNX plays a role in …
Other duplicated genes are C4A and C4B, that encode two isoforms of complement factor C4, the RP1 gene that encodes a serine/threonine prote …
Aberrant methylation and expression of TNXB promote chondrocyte apoptosis and extracullar matrix degradation in hemophilic arthropathy via AKT signaling.
Chen J, Zeng Q, Wang X, Xu R, Wang W, Huang Y, Sun Q, Yuan W, Wang P, Chen D, Tong P, Jin H. Chen J, et al. Elife. 2024 May 31;13:RP93087. doi: 10.7554/eLife.93087. Elife. 2024. PMID: 38819423 Free PMC article.
Functional enrichment analyses revealed the association between DMR genes (DMGs) and extracellular matrix (ECM) organization. Among these DMGs, Tenascin XB (TNXB) expression was down-regulated in human and mouse HA cartilages. The loss of Tnxb in F8(-/ …
Functional enrichment analyses revealed the association between DMR genes (DMGs) and extracellular matrix (ECM) organization. Among these DM …
Loss of Smooth Muscle Tenascin-X Inhibits Vascular Remodeling Through Increased TGF-beta Signaling.
Liang G, Lv XF, Huang W, Jin YJ, Roquid KA, Kawase H, Offermanns S. Liang G, et al. Arterioscler Thromb Vasc Biol. 2024 Aug;44(8):1748-1763. doi: 10.1161/ATVBAHA.123.321067. Epub 2024 Jun 27. Arterioscler Thromb Vasc Biol. 2024. PMID: 38934115 Free article.
The extracellular matrix protein TN-X (tenascin-X) has recently been shown to bind TGF-beta and to prevent it from activating its receptor. ...RESULTS: In hypertensive and high-fat diet-fed mice, after carotid artery ligation as well as in human aneurysmal aortae, e …
The extracellular matrix protein TN-X (tenascin-X) has recently been shown to bind TGF-beta and to prevent it from activating …
CAH-X Syndrome: Genetic and Clinical Profile.
Concolino P, Falhammar H. Concolino P, et al. Mol Diagn Ther. 2022 May;26(3):293-300. doi: 10.1007/s40291-022-00588-0. Epub 2022 Apr 27. Mol Diagn Ther. 2022. PMID: 35476220 Review.
The genetic defect is due to the monoallelic presence of a CYP21A2 deletion extending into the gene encoding tenascin X (TNXB), a connective tissue extracellular matrix protein. The result is a chimeric TNXA/TNXB gene causing tenascin-X h …
The genetic defect is due to the monoallelic presence of a CYP21A2 deletion extending into the gene encoding tenascin X (TN …
Genetic determinants of complement activation in the general population.
Noce D, Foco L, Orth-Höller D, König E, Barbieri G, Pietzner M, Ghasemi-Semeskandeh D, Coassin S, Fuchsberger C, Gögele M, Del Greco M F, De Grandi A, Summerer M, Wheeler E, Langenberg C, Lass-Flörl C, Pramstaller PP, Kronenberg F, Würzner R, Pattaro C. Noce D, et al. Cell Rep. 2024 Jan 23;43(1):113611. doi: 10.1016/j.celrep.2023.113611. Epub 2023 Dec 29. Cell Rep. 2024. PMID: 38159276 Free article.
We identify seven loci, encompassing 13 independent, pathway-specific variants located in or near complement genes (CFHR4, C7, C2, MBL2) and non-complement genes (PDE3A, TNXB, ABO), explaining up to 74% of complement pathways' genetic heritability and implicating long-rang …
We identify seven loci, encompassing 13 independent, pathway-specific variants located in or near complement genes (CFHR4, C7, C2, MBL2) and …
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.
Carrozza C, Foca L, De Paolis E, Concolino P. Carrozza C, et al. Front Endocrinol (Lausanne). 2021 Jul 30;12:709758. doi: 10.3389/fendo.2021.709758. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34394006 Free PMC article. Review.
RCCX structure is typically defined by the copy number of a DNA segment containing a series of genes - the serine/threonine kinase 19 (STK19), the complement 4 (C4), the steroid 21-hydroxylase (CYP21), and the tenascin-X (TNX) - lie close to each other. In the Cauca …
RCCX structure is typically defined by the copy number of a DNA segment containing a series of genes - the serine/threonine kinase 19 (STK19 …
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.
Wang H, Chang TS, Dombroski BA, Cheng PL, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Le Bastard N, Gearing M, Kaat LD, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, de Yébenes JG, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Le Ber I, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris H, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS; P. S. P. genetics study group; Dalgard C, Dickson DW, Höglinger GU, Schellenberg GD, Geschwind DH, Lee WP. Wang H, et al. Mol Neurodegener. 2024 Aug 16;19(1):61. doi: 10.1186/s13024-024-00747-3. Mol Neurodegener. 2024. PMID: 39152475 Free PMC article.
RESULTS: Our analysis of common SNVs and indels confirmed known genetic loci at MAPT, MOBP, STX6, SLCO1A2, DUSP10, and SP1, and further uncovered novel signals in APOE, FCHO1/MAP1S, KIF13A, TRIM24, TNXB, and ELOVL1. Notably, in contrast to Alzheimer's disease (AD), we obse …
RESULTS: Our analysis of common SNVs and indels confirmed known genetic loci at MAPT, MOBP, STX6, SLCO1A2, DUSP10, and SP1, and further unco …
Genetic associations in ankylosing spondylitis: circulating proteins as drug targets and biomarkers.
Zhang Y, Liu W, Lai J, Zeng H. Zhang Y, et al. Front Immunol. 2024 May 21;15:1394438. doi: 10.3389/fimmu.2024.1394438. eCollection 2024. Front Immunol. 2024. PMID: 38835753 Free PMC article.
RESULTS: Our analysis identified 1,654 plasma proteins linked to AS, with 868 up-regulated and 786 down-regulated. 18 proteins (AGER, AIF1, ATF6B, C4A, CFB, CLIC1, COL11A2, ERAP1, HLA-DQA2, HSPA1L, IL23R, LILRB3, MAPK14, MICA, MICB, MPIG6B, TNXB, and VARS1) that show promi …
RESULTS: Our analysis identified 1,654 plasma proteins linked to AS, with 868 up-regulated and 786 down-regulated. 18 proteins (AGER, AIF1, …
Identification of novel drug targets for multiple sclerosis by integrating plasma genetics and proteomes.
Liu Y, Wang Q, Zhao Y, Liu L, Hu J, Qiao Y, Chen J, Qin C. Liu Y, et al. Exp Gerontol. 2024 Sep;194:112505. doi: 10.1016/j.exger.2024.112505. Epub 2024 Jul 10. Exp Gerontol. 2024. PMID: 38964432 Free article.
Further analysis revealed that the abundance of 7 of these proteins (PLEK, TNXB, CASP3, CD59, CR1, TAPBPL, ATXN3) was causally related to the incidence of MS. Our findings indicated that genetically predicted higher levels of TNXB and CD59 were associated with a low …
Further analysis revealed that the abundance of 7 of these proteins (PLEK, TNXB, CASP3, CD59, CR1, TAPBPL, ATXN3) was causally relate …
82 results