Collodion Baby With Congenital Bilateral Ectropion And Eclabion- Rare Presentation

Congenital Ichthyosiform Erythroderma- an extremely rare dermatological condition with an estimated incidenceof 1 in 50,000 to 100,000 birth. There is defective Stratum corneum barrier associated with collodion membranewhen the baby moves from an amniotic fluid to external dry environment during parturition. The membranedessicates and peels off. This condition is due to mutations in Transglutaminase1, ALOX genes, ABCA12, Ichthyin,ABHD5.

Overexpression of TGM1 gene inhibits epithelial-mesenchymal transition in breast cancer cells / 肿瘤

Objective: To investigate the effect of transglutaminase 1 (TGM1) gene overexpression on the epithelial-mesenchymal transition (EMT) in breast cancer cells. Methods: The expression level of TGM1 mRNA in rat breast cancer FE1.2 and FE1.3 cells was detected by real-time fluorescent quantitative PCR. The recombinant vector pCMV3-TGM1-GFPspark was transfected into FE1.2 cells by liposome method to construct the TGM1 gene overexpressed FE1.2 cell strain. The morphological change of FE1.2 cells after transfection with pCMV3-TGM1-GFPspark was observed under an optical microscope, the cell size was detected by FCM method. The effect of TGM1 gene overexpression on the proliferation of FE1.2 cells was examined by MTT method. The expression levels of EMT molecular markers E-cadherin, vimentin, β-catenin, cyclin D1 mRNAs and proteins were examined by real-time fluorescent quantitative PCR and Western blotting, respectively. Finally, the migration ability of FE1.2 cells transfected with pCMV3-TGM1-GFPspark was detected by wound healing assay. Results: The expression level of TGM1 mRNA in FE1.3 cells was significantly higher than that in FE1.2 cells (P 0.05). The migration ability of FE1.2 cells after TGM1 gene overexpression was significantly inhibited (P < 0.05). Conclusion: Overexpression of TGM1 gene can inhibit EMT in breast cancer cells.

Relationship between expression of transglutaminase and anchorage independent growth in differentiation of human salivary gland ductal cells and adenocarcinoma cells

Immunohistochemical Study of Differential Expression of Transglutaminase 1 in the Rat / 대한해부학회지

Transglutaminase is an calcium depedent enzyme involved in various biological events such as cell growth and proliferation, apoptosis, fertilization, embryogenesis, and carcinogenesis. Biochemically it can be detected in many organs but no systemic in situ localization has been carried out so far. Here we report the immunohistochemical localization of TG1 in rat tissue using newly purificated polyclonal anti-goat traglutaminase 1 antibody. The presence of TG 1 can be demonstrated in the kidney, liver, spleen, lung, esophagus, trachea, small intestine, testis, cerebellum of the rat. The strong immunoreactivity can be demonstrated in proximal convoluted tubule and collecting duct of the kidney, central vein of the liver, esophagus of the lamina propria, epithelium and cartilage of the trachea., submucosa and Paneth cell of the small intestine, Purkinje cell of the cerebellum. Among organs, there was no relationship between the immunoreactivity and histologic similarity. The functional implications of these findings are presently unknown. However, based on its wide distribution of the tissue certain essential role of this enzyme in survival of organism may be suggested.

Transglutaminase 1 gene mutations in a family with lamellar ichthyosis / 中华皮肤科杂志

Objective To detect the mutations of transglutaminase 1 (TGM1) gene in a family with lamellar ichthyosis. Methods The genomic DNA was extracted from the proband and his family members. All the encoding exons and adjacent splice sites of TGM1 gene were amplified by PCR. Mutation scanning was carried out via direct bi-directional DNA sequencing. Also the homology of TGM1 was analyzed. Results In the proband, there was a C504T mutation located at codon 142 (R142C) in exon 3 of TGM1 gene, and a nonsense mutation of C1122T located in exon 7, which caused a premature termination of R348X and a defective polypeptide truncated by 470 amino acids in C-terminus. A heterozygote of C504T mutation was carried by the proband′s father and a heterozygote of C1122T mutation in the proband′s mother. The missense mutation of R142C was found at the conservation region of TGM1 gene. Conclusion The mutations of R142C and R348X in TGM1 gene are present in the patient with lamellar ichthyosis.