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    TGM1 transglutaminase 1 [ Homo sapiens (human) ]

    Gene ID: 7051, updated on 7-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    A pan-cancer analysis of the oncogenic and immunological roles of transglutaminase 1 (TGM1) in human cancer.

    A pan-cancer analysis of the oncogenic and immunological roles of transglutaminase 1 (TGM1) in human cancer.
    Wu R, Li D, Zhang S, Wang J, Chen K, Tuo Z, Miyamoto A, Yoo KH, Wei W, Zhang C, Feng D, Han P., Free PMC Article

    03/15/2024
    THBS1 promotes angiogenesis and accelerates ESCC malignant progression by the HIF-1/VEGF signaling pathway.

    THBS1 promotes angiogenesis and accelerates ESCC malignant progression by the HIF-1/VEGF signaling pathway.
    Zhou X, Xia Q, Chen M, Zhang X, Huang M, Zheng X, Wang S, Wu B, Du Z.

    02/15/2024
    Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.

    Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.
    Chegini M, Eslami M, Motavaf M, Memarsadeghi O, Hoseini A, Torab E, Hoseininasab F, Amiri H, Ramandi S, Mostofinezhad N, Keivani F, Ghaffari SR, Rafati M.

    12/18/2023
    Cornification of keratinocytes is associated with differential changes in the catalytic activity and the immunoreactivity of transglutaminase-1.

    Cornification of keratinocytes is associated with differential changes in the catalytic activity and the immunoreactivity of transglutaminase-1.
    Surbek M, Van de Steene T, Sachslehner AP, Golabi B, Griss J, Eyckerman S, Gevaert K, Eckhart L., Free PMC Article

    12/18/2023
    Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.

    Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.
    Macriz-Romero N, Vera-Duarte GR, Guerrero-Becerril J, Chacón-Camacho OF, Astiazarán MC, Zenteno JC, Graue-Hernandez EO., Free PMC Article

    09/19/2023
    Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.

    Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.
    Khan N, Shah K, Fozia F, Khan SA, Muhammad N, Nasir A, Ahmad I, Rehman ZU, Jan A, Muhammad N, Khan S.

    04/20/2023
    Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.

    Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.
    Almazroea A, Ijaz A, Aziz A, Mushtaq Yasinzai M, Rafiullah R, Rehman FU, Daud S, Shaikh R, Ayub M, Wali A., Free PMC Article

    01/28/2023
    Deep Association between Transglutaminase 1 and Tissue Eosinophil Infiltration Leading to Nasal Polyp Formation and/or Maintenance with Fibrin Polymerization in Chronic Rhinosinusitis with Nasal Polyps.

    Deep Association between Transglutaminase 1 and Tissue Eosinophil Infiltration Leading to Nasal Polyp Formation and/or Maintenance with Fibrin Polymerization in Chronic Rhinosinusitis with Nasal Polyps.
    Sonoyama T, Ishino T, Takemoto K, Yamato K, Oda T, Nishida M, Horibe Y, Chikuie N, Kono T, Taruya T, Hamamoto T, Ueda T, Takeno S., Free PMC Article

    11/19/2022
    A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen.

    A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen.
    Landegren N, Ishii N, Aranda-Guillén M, Gunnarsson HI, Sardh F, Hallgren Å, Ståhle M, Hagforsen E, Bradley M, Edqvist PD, Pontén F, Mäkitie O, Eidsmo L, Norlén L, Achour A, Dahlbom I, Korponay-Szabó I, Agardh D, Alimohammadi M, Eriksson D, Hashimoto T, Kämpe O., Free PMC Article

    01/15/2022
    Molecular profiling of lamellar ichthyosis pathogenic missense mutations on the structural and stability aspects of TGM1 protein.

    Molecular profiling of lamellar ichthyosis pathogenic missense mutations on the structural and stability aspects of TGM1 protein.
    Nasser KK, Banaganapalli B, Shinawi T, Elango R, Shaik NA.

    10/23/2021
    High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect.

    High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect.
    González-Del Carmen M, Montaño S, Reyes-Hernández OD, Vizcaíno-Dorado PA, Leyva-García N, Morales-Morfín JC, Diaz-Beltran W, Quinto-Santiago E, Cariño-Calvo L, Magaña JJ, Leyva-Gómez G, Cortés H.

    07/3/2021
    LEKTI domains D6, D7 and D8+9 serve as substrates for transglutaminase 1: implications for targeted therapy of Netherton syndrome.

    LEKTI domains D6, D7 and D8+9 serve as substrates for transglutaminase 1: implications for targeted therapy of Netherton syndrome.
    Wiegmann H, Valentin F, Tarinski T, Liebau E, Loser K, Traupe H, Oji V.

    03/20/2021
    Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population.

    Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population.
    Esperón-Moldes US, Pardo-Seco J, Montalván-Suárez M, Fachal L, Ginarte M, Rodríguez-Pazos L, Gómez-Carballa A, Moscoso F, Ugalde-Noritz N, Ordóñez-Ugalde A, Tettamanti-Miranda D, Ruiz JC, Salas A, Vega A., Free PMC Article

    10/24/2020
    Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?

    Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?
    Zhang H, Ericsson M, Weström S, Vahlquist A, Virtanen M, Törmä H., Free PMC Article

    09/12/2020
    aberrant TGase 1 and TGase 3 localization and distribution are closely related to hyper-keratinization in Oral lichen planus.

    Ectopic transglutaminase 1 and 3 expression accelerating keratinization in oral lichen planus.
    Shimada K, Ochiai T, Hasegawa H., Free PMC Article

    01/19/2019
    p.Ile140Met, p.Pro184Ser, p.Gly357Asp mutations pathogenic

    Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis.
    Numata S, Teye K, Karashima T, Matsuda M, Hamada T, Hashimoto T.

    02/17/2018
    We also reveal that TGM1 modulates lung epithelial junction protein expression, suggesting a potentially protective role for hypoxia-induced TGM1 in pulmonary disease.

    HIF-1-Dependent TGM1 Expression is Associated with Maintenance of Airway Epithelial Junction Proteins.
    Li L, Watson CJ, Dubourd M, Bruton A, Xu M, Cooke G, Baugh JA.

    01/13/2018
    A novel TGM1 variant c.1085T>G was found in an Emirati family. The mutation causes a nonsynonymous protein change (p.Leu362Arg) that affects a highly conserved residue in the catalytic core domain of the calcium-dependent transglutaminase-1.

    Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
    Bastaki F, Mohamed M, Nair P, Saif F, Mustafa EM, Bizzari S, Al-Ali MT, Hamzeh AR.

    11/25/2017
    that the up-regulation of molecular signatures for antimicrobial and innate defense responses is characteristic of skin with a transglutaminase 1 deficiency.

    Activation of Molecular Signatures for Antimicrobial and Innate Defense Responses in Skin with Transglutaminase 1 Deficiency.
    Haneda T, Imai Y, Uchiyama R, Jitsukawa O, Yamanishi K., Free PMC Article

    08/5/2017
    Seven of 10 probands with a compound heterozygous TGM1 genotype had a mutation at either arginine 307 or 315, providing evidence that mutations at these sites are temperature sensitive and highlighting the importance of these residues in the pathogenesis of bathing suit ichthyosis

    Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
    Marukian NV, Hu RH, Craiglow BG, Milstone LM, Zhou J, Theos A, Kaymakcalan H, Akkaya DA, Uitto JJ, Vahidnezhad H, Youssefian L, Bayliss SJ, Paller AS, Boyden LM, Choate KA., Free PMC Article

    07/1/2017
    The results strongly supported the participation of TGM1 in the regulation of gastric cancer development. The authors found evidence that the mechanism of action of TGM1 in regulating gastric cancer cell might involve the Wnt signaling pathway, as loss of TGM1 expression in gastric cancer cells led to a significant suppression of Wnt signaling activities.

    Tissue transglutaminase-1 promotes stemness and chemoresistance in gastric cancer cells by regulating Wnt/β-catenin signaling.
    Huang H, Chen Z, Ni X., Free PMC Article

    07/1/2017
    we identified three novel mutations and one reported mutation in the TGM1 and ABCA12 genes, respectively, in affected siblings of five Saudi unrelated families.

    Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.
    Wakil SM, Binamer Y, Al-Dossari H, Al-Humaidy R, Thuraya RA, Khalifa O, Finsterer J, Meyer BF, Al Owain M.

    07/1/2017
    As a further application of the substrate peptide, several substrate candidates of TG1 that may be essential for cornified envelope formation were identified and characterized.

    Analysis on transglutaminase 1 and its substrates using specific substrate peptide in cultured keratinocytes.
    Yamane M, Sugimura K, Kawasaki H, Tatsukawa H, Hitomi K.

    05/27/2017
    Data indicate a decrease in transglutaminases TG1 and TG3 transcripts by about 70% in foreskins from patients with balanitis xerotica obliterans (BXO) BXO in comparison with patients without BXO and an increase in transglutaminase TG2 mRNA levels by 2.9 fold.

    Expression of Transglutaminase in Foreskin of Children with Balanitis Xerotica Obliterans.
    Russo T, Currò M, Barbera A, Caccamo D, Antonuccio P, Arena S, Montalto AS, Parisi S, Marseglia L, Gitto E, Ientile R, Impellizzeri P, Romeo C., Free PMC Article

    04/1/2017
    In summary, we have identified three novel sequence variants, one in TGM1 and two in ALOXE3, in three consanguineous families segregating lamellar ichthyosis and congenital ichthyosiform erythroderma types of autosomal recessive congenital ichthyosis.

    Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
    Ullah R, Ansar M, Durrani ZU, Lee K, Santos-Cortez RL, Muhammad D, Ali M, Zia M, Ayub M, Khan S, Smith JD, Nickerson DA, Shendure J, Bamshad M, Leal SM, Ahmad W., Free PMC Article

    01/14/2017
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