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    TNXB tenascin XB [ Homo sapiens (human) ]

    Gene ID: 7148, updated on 3-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Tenascins and osteopontin in biological response in cornea.

    Tenascins and osteopontin in biological response in cornea.
    Sumioka T, Matsumoto KI, Reinach PS, Saika S.

    09/7/2023
    Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation.

    Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation.
    Ivo CR, Fitas AL, Madureira I, Diamantino C, Gomes S, Gonçalves J, Lopes L.

    01/14/2023
    A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.

    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., Free PMC Article

    08/7/2021
    Differential DNA methylation patterns in human Schlemm's canal endothelial cells with glaucoma.

    Differential DNA methylation patterns in human Schlemm's canal endothelial cells with glaucoma.
    Cai J, Drewry MD, Perkumas K, Dismuke WM, Hauser MA, Stamer WD, Liu Y., Free PMC Article

    07/3/2021
    TNX-deficient patients with Ehlers-Danlos syndrome have upper gastric dysfunction.

    A novel role for the extracellular matrix glycoprotein-Tenascin-X in gastric function.
    Aktar R, Peiris M, Fikree A, Eaton S, Kritas S, Kentish SJ, Araujo EJA, Bacarin C, Page AJ, Voermans NC, Aziz Q, Blackshaw LA., Free PMC Article

    07/11/2020
    These results suggest that fetal membranes may be a source of amniotic fluid TNX whereby protein and mRNA expression seem to be significantly impacted by inflammation independent of fetal membrane status.

    Tenascin-X in amniotic fluid and reproductive tissues of pregnancies complicated by infection and preterm prelabor rupture of membranes†.
    Rood KM, Buhimschi CS, Zhao G, Oliver EA, Summerfield T, Bahtiyar MO, Buhimschi IA., Free PMC Article

    05/30/2020
    Data indicate that tenascin XB protein (TNXB) mRNA expression was downregulated in esophageal squamous-cell carcinoma (ESCC) compared with adjacent normal tissues.

    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.

    04/25/2020
    Loss of TNXB expression is associated with Gastrointestinal diseases.

    The extracellular matrix glycoprotein tenascin-X regulates peripheral sensory and motor neurones.
    Aktar R, Peiris M, Fikree A, Cibert-Goton V, Walmsley M, Tough IR, Watanabe P, Araujo EJA, Mohammed SD, Delalande JM, Bulmer DC, Scott SM, Cox HM, Voermans NC, Aziz Q, Blackshaw LA., Free PMC Article

    12/14/2019
    Data demonstrates gene expression changes in differentially methylated TNXB gene in patients with age-related macular degeneration.

    Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes.
    Porter LF, Saptarshi N, Fang Y, Rathi S, den Hollander AI, de Jong EK, Clark SJ, Bishop PN, Olsen TW, Liloglou T, Chavali VRM, Paraoan L., Free PMC Article

    08/24/2019
    TNXB is a novel diagnostic biomarker for Malignant Mesothelioma

    Tenascin XB Is a Novel Diagnostic Marker for Malignant Mesothelioma.
    Nakayama K, Seike M, Noro R, Takeuchi S, Matsuda K, Kunugi S, Kubota K, Gemma A.

    02/23/2019
    mRNA for tenascin-X gene values was higher in ventricular septal defects.

    Levels of Circulating mRNA for the Tenascin-X (TNXB) Gene in Maternal Plasma at the Second Trimester in Pregnancies with Isolated Congenital Ventricular Septal Defects.
    Morano D, Berto S, Lapucci C, Walczer Baldinazzo L, Prandstraller D, Farina A.

    11/17/2018
    Hypermethylated sites at TNXB are associagted with response to starvation in anorexia nervosa.

    High-throughput DNA methylation analysis in anorexia nervosa confirms TNXB hypermethylation.
    Kesselmeier M, Pütter C, Volckmar AL, Baurecht H, Grallert H, Illig T, Ismail K, Ollikainen M, Silén Y, Keski-Rahkonen A, Bulik CM, Collier DA, Zeggini E, Hebebrand J, Scherag A, Hinney A, GCAN and WTCCC3.

    09/29/2018
    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.

    Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.
    Chen W, Perritt AF, Morissette R, Dreiling JL, Bohn MF, Mallappa A, Xu Z, Quezado M, Merke DP., Free PMC Article

    12/16/2017
    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.

    Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.
    Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, van Engelen BG, Hamel B, Schalkwijk J, Loeys B, Maugeri A, Voermans NC.

    07/1/2017
    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

    Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux.
    Elahi S, Homstad A, Vaidya H, Stout J, Hall G, Wu G, Conlon P Jr, Routh JC, Wiener JS, Ross SS, Nagaraj S, Wigfall D, Foreman J, Adeyemo A, Gupta IR, Brophy PD, Rabinovich CE, Gbadegesin RA., Free PMC Article

    09/24/2016
    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.

    Secretome Identifies Tenascin-X as a Potent Marker of Ovarian Cancer.
    Kramer M, Pierredon S, Ribaux P, Tille JC, Petignat P, Cohen M., Free PMC Article

    03/19/2016
    It plays regulatory roles in collagen functions such as fibril organization and fibrillogenesis in calcific aortic valves.

    [Vascular Calcification - Pathological Mechanism and Clinical Application - . Extracellular matrix tenascin-X in calcific aortic valves].
    Matsumoto K.

    10/3/2015
    these results suggest that mutations in TNXB can cause hereditary primary vesicoureteral reflux .

    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., Free PMC Article

    11/2/2013
    Noticeable decreased expression of tenascin-X in calcific aortic valves.

    Noticeable decreased expression of tenascin-X in calcific aortic valves.
    Matsumoto K, Satoh K, Maniwa T, Araki A, Maruyama R, Oda T.

    05/4/2013
    Tenascin-X haploinsufficiency was associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia

    Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
    Merke DP, Chen W, Morissette R, Xu Z, Van Ryzin C, Sachdev V, Hannoush H, Shanbhag SM, Acevedo AT, Nishitani M, Arai AE, McDonnell NB., Free PMC Article

    04/13/2013
    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.

    The role of TNXB single-nucleotide polymorphisms in recurrent shoulder dislocation.
    Geiger EV, Henrich D, Wutzler S, Schneidmüller D, Jakob H, Frank JM, Marzi I.

    03/2/2013
    Genome-wide association study of age-related macular degeneration identifies TNXB, FKBPL and NOTCH4 as candidate susceptibility genes.

    Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
    Cipriani V, Leung HT, Plagnol V, Bunce C, Khan JC, Shahid H, Moore AT, Harding SP, Bishop PN, Hayward C, Campbell S, Armbrecht AM, Dhillon B, Deary IJ, Campbell H, Dunlop M, Dominiczak AF, Mann SS, Jenkins SA, Webster AR, Bird AC, Lathrop M, Zelenika D, Souied EH, Sahel JA, Léveillard T, French AMD Investigators, Cree AJ, Gibson J, Ennis S, Lotery AJ, Wright AF, Clayton DG, Yates JR., Free PMC Article

    01/26/2013
    Combined analysis of tenascin-C expression and the nodule size improved the prediction of malignancy in this patient cohort.

    Early detection of lung cancer by molecular markers in endobronchial epithelial-lining fluid.
    Kahn N, Meister M, Eberhardt R, Muley T, Schnabel PA, Bender C, Johannes M, Keitel D, Sültmann H, Herth FJ, Kuner R.

    09/29/2012
    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.

    Further study of genetic association between the TNXB locus and schizophrenia.
    Wang J, Sun S, Zhang L, Wang Z, Ye L, Liu L, Wu N, Li H, Zhang X, Wu J.

    02/11/2012
    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.

    Phenotypic effects of Ehlers-Danlos syndrome-associated mutation on the FnIII domain of tenascin-X.
    Zhuang S, Linhananta A, Li H., Free PMC Article

    02/26/2011
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