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aberrant TGase 1 and TGase 3 localization and distribution are closely related to hyper-keratinization in Oral lichen planus.
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p.Ile140Met, p.Pro184Ser, p.Gly357Asp mutations pathogenic
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We also reveal that TGM1 modulates lung epithelial junction protein expression, suggesting a potentially protective role for hypoxia-induced TGM1 in pulmonary disease.
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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.
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that the up-regulation of molecular signatures for antimicrobial and innate defense responses is characteristic of skin with a transglutaminase 1 deficiency.
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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
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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.
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we identified three novel mutations and one reported mutation in the TGM1 and ABCA12 genes, respectively, in affected siblings of five Saudi unrelated families.
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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.
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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.
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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.
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Our results thus indicated that the TGM1 mutation affects the formation of corni fi ed cell envelope by multiple mechanisms and leads to an almost identical clinical phenotype of generalized erythema and scales.
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Two siblings with autosomal recessive congenital ichthyosis, were found to carry a novel aetiological TGM1 mutation that leads to the synthesis of multiple abnormal transcripts.
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mRNA expression of transglutaminase 1 and transglutaminase 3 was significantly decreased in patients with chronic periodontitis compared with a healthy control group.
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In this study, we found that 14 different TGM1 mutations have been identified and reported in 13 individuals with ARCI from 8 families with congental ichthyosis, comprising 9 missense mutations, 1 deletion and 1 splice-site mutation .
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Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis.
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IgA-anti-TG1 antibodies were found in 2% and IgA-anti-TG3 antibodies in 3% of patients with active atopic dermatitis (AD). Two out of the 5 patients with AD and concomitant celiac disease had IgA-anti-TG1 and IgA-anti-TG2 antibodies.
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All mutations, except a novel deletion of a single nucleotide in exon 13 (c.2149delC), have been reported previously in lamellar ichthyosis.
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Most of the mutations we identified in 20 israeli families with autosomal recessive congenital ichthyosis were located within the coding sequence of the TGM1 gene
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We add a Korean case of genetically identified autosomal recessive congenital icthyosis, confirmed by the presence of compound heterozygous mutations in the TGM1 gene.
