To clarify the association of clinical and prognostic features with dermatomyositis (DM)specific autoantibodies (Abs) in adult Japanese patients with DM.
Fibroblast growth factor (FGF) signaling is crucial for the induction and growth of the ear, a sensory organ that involves intimate tissue interactions. Here, we report the abnormality of Fgf10 null ear and the identification of a cis-regulatory element directing otic expression of Fgf10. In Fgf10 null inner ears, we found that the initial development of semicircular, vestibular, and cochlear divisions is roughly normal, after which there are abnormalities of semicircular canal/cristae and vestibular development. The mutant semicircular disks remain without canal formation by the perinatal stage. To elucidate regulation of the Fgf10 expression during inner ear development, we isolated a 6.6-kb fragment of its 5-upstream region and examined its transcriptional activity with transgenic mice, using a lacZ-reporter system. From comparison of the mouse sequences of the 6.6-kb fragment with corresponding sequences of the human and chicken
Previous population-based, genetic studies have shown that human leukocyte antigen (HLA) class II loci such as HLA-DR4 (DRB1*04) and HLA-DR14 (DRB1*14) alleles are consistently associated with the occurrence of pemphigus vulgaris (PV) in Japanese as well as other ethnic populations. Among PV-related HLA-DRB1 alleles (*0406, *1401, *1405, *1406) in Japan, HLA DRB1*1405 and DRB1*0406 were found to be associated with both PV and pemphigus foliaceus (PF) phenotypes. We report four familial cases of pemphigus in two unrelated families, together with analysis of their HLA-DR and -DQ alleles, and their antibody profiles. One family comprised a woman with PF and her mother with PV: both patients shared a HLA haplotype of A31(19), B54(22), CW1 and DRB1*1405. Another family included two sisters with PF and PV, respectively: both of these patients shared a DRB1*1405-DQA1*0104-DQB1*0503 haplotype. Clinicopathological and serological monitoring revealed that the elder sister with PF presented with a PV phenotype later, and gained anti-desmoglein (Dsg)3 antibodies in addition to having a low titer of anti-Dsg1 antibodies. Conversely, the younger sister with PV developed PF with only anti-Dsg1 antibody detected. These results indicate that an HLA-DRB1*1405 (DQB1*0503) haplotype may confer susceptibility to both PV and PF, and that genetic susceptibility alone is not always responsible for the clinical phenotype and autoantibody profile.
Enolase is a glycolytic enzyme catalyzing the conversion of 2-phospho-d-glycerate to phosphoenolpyruvate. In mammals (including humans) there are three independent genetic loci, called ENO1, ENO3 and ENO2, encoding three isoforms of enolase, α, β and γ, respectively.(1,2) Isoform switching takes place along with terminal differentiation into neuronal and skeletal muscle cells from α-enolase to γ-and β-enolases, respectively. The γ isoform, known as neuron-specific enolase, is detected mainly in cells of neuronal origin and the β isoform is found mainly in adult skeletal muscle, whereas the α isoform is a major form of enolase present in the early stages of embryonic development, being expressed ubiquitously in different types of tissue.The ENO1 gene is located in chromosomal region 1p36.3-1p36.2. (4,5) This gene encodes an alternatively translated product, in addition to the ENO1 protein, by initiating translation at the Met-97 residue encoded in exon 5.(6) This product is identified as c-myc promoter binding protein 1 (MBP-1). MBP-1 does not have enzymatic enolase activity.(7) The 48-kDa form of ENO1 has enzymatic activity and is localized in the cytoplasm or in both cytoplasm and nuclei, whereas the shorter 37-kDa form (MBP-1) is preferentially localized in cell nuclei.(8) The two proteins are known to function as negative regulators for c-myc expression. (9) Recent findings have shown that α-enolase has several functions besides its innate glycolytic function, and plays an important role in several biological and pathophysiological processes. (10,11) In particular, α-enolase is considered to play potential roles in tumorigenesis. Tumor cells have a higher metabolic rate than surrounding normal tissues, and enolases are considered to be an important factor in cell metabolism. Several lines of evidence suggest that α-enolase may be involved in cancer invasion and metastasis.(12) Furthermore, an autoantigen of α-enolase was identified in non-small cell lung cancer and its overexpression was tightly correlated with poor survival outcomes. (13) Localization of α-enolase in rat oral epithelium by immunofluorescence microscopy has demonstrated the high level of α-enolase in oral epithelium, specifically in the cytoplasm of basal cells. (14) However, detailed observations of α-enolase localization in human oral epithelium and in oral squamous cell carcinoma (SCC) have not been undertaken thus far.In the present study, we investigated the localization of ENO1 gene transcripts detected as proteins with an immunohistochemical method and also as mRNA with an in situ hybridization method on tissue sections of oral epithelium and oral SCC, and demonstrated the differential distribution of the gene transcripts in normal and carcinoma cells. Materials and MethodsTissue samples and histopathology. Ethical approval for this study was granted by the Institutional Review Board of Kawasaki Medical School, and written informed consent was obtained from all patients. Thirteen oral SCC of well differentiated type (five tongues, thre...
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.