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  1. Fulltext Thanatophoric Dysplasia: Case Report
    Roszaman Ramli, Ahmad Murad Zainudin
    International Medical Journal Malaysia, 2006;5(2):1-6.
    MyJurnal
    Thanatophoric dysplasia (TD) was reported earlier in the previous publication. It is one of the most common lethal human skletal dysplasia characterized by severe dwarfism. It occurs in 3 to 4 per 100,000 live births1 and is due to autosomal dominant sporadic de novo mutations in the fibroblast growth factor receptor 3 (FGFR3) gene3 which codes for the FGFR3 transmembrane receptor expressed largely by skeletal and brain tissues in the developing fetus where it is involved with growth regulation. The FGFR3 mutation in TD leads to generalized defects and lack of endochondral ossification, with membranous ossification being less impaired1. Male and female fetuses are equally affected. Two thanatophoric case of this extremely rare occurance are reported and discussed.
    Matched MeSH terms: Receptor, Fibroblast Growth Factor, Type 3
  2. Fulltext FGFR3 mutation increases bladder tumourigenesis by suppressing acute inflammation
    Foth M, Ismail NFB, Kung JSC, Tomlinson D, Knowles MA, Eriksson P, et al.
    J Pathol, 2018 Nov;246(3):331-343.
    PMID: 30043421 DOI: 10.1002/path.5143
    Recent studies of muscle-invasive bladder cancer show that FGFR3 mutations are generally found in a luminal papillary tumour subtype that is characterised by better survival than other molecular subtypes. To better understand the role of FGFR3 in invasive bladder cancer, we examined the process of tumour development induced by the tobacco carcinogen OH-BBN in genetically engineered models that express mutationally activated FGFR3 S249C or FGFR3 K644E in the urothelium. Both occurrence and progression of OH-BBN-driven tumours were increased in the presence of an S249C mutation compared to wild-type control mice. Interestingly, at an early tumour initiation stage, the acute inflammatory response in OH-BBN-treated bladders was suppressed in the presence of an S249C mutation. However, at later stages of tumour progression, increased inflammation was observed in S249C tumours, long after the carcinogen administration had ceased. Early-phase neutrophil depletion using an anti-Ly6G monoclonal antibody resulted in an increased neutrophil-to-lymphocyte ratio at later stages of pathogenesis, indicative of enhanced tumour pathogenesis, which supports the hypothesis that suppression of acute inflammation could play a causative role. Statistical analyses of correlation showed that while initial bladder phenotypes in morphology and inflammation were FGFR3-dependent, increased levels of inflammation were associated with tumour progression at the later stage. This study provides a novel insight into the tumour-promoting effect of FGFR3 mutations via regulation of inflammation at the pre-tumour stage in the bladder. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
    Matched MeSH terms: Receptor, Fibroblast Growth Factor, Type 3
  3. Fulltext Molecular markers associated with nonepithelial ovarian cancer in formalin-fixed, paraffin-embedded specimens by genome wide expression profiling
    Vui-Kee K, Mohd Dali AZ, Mohamed Rose I, Ghazali R, Jamal R, Mokhtar NM
    Kaohsiung J. Med. Sci., 2012 May;28(5):243-50.
    PMID: 22531302 DOI: 10.1016/j.kjms.2011.11.007
    Nonepithelial ovarian cancer (NEOC) is a rare cancer that is often misdiagnosed as other malignant tumors. Research on this cancer using fresh tissues is nearly impossible because of its limited number of samples within a limited time provided. The study is to identify potential genes and their molecular pathways related to NEOC using formalin-fixed paraffin embedded samples. Total RNA was extracted from eight archived NEOCs and seven normal ovaries. The RNA samples with RNA integrity number >2.0, purity >1.7 and cycle count value <28 cycles were hybridized to the Illumina Whole-Genome DASL assay (cDNA-mediated annealing, selection, extension, and ligation). We analyzed the results using the GeneSpring GX11.0 and FlexArray software to determine the differentially expressed genes. Microarray results were validated using an immunohistochemistry method. Statistical analysis identified 804 differentially expressed genes with 443 and 361 genes as overexpressed and underexpressed in cancer, respectively. Consistent findings were documented for the overexpression of eukaryotic translation elongation factor 1 alpha 1, E2F transcription factor 2, and fibroblast growth factor receptor 3, except for the down-regulated gene, early growth response 1 (EGR1). The immunopositivity staining for EGR1 was found in the majority of cancer tissues. This finding suggested that the mRNA level of a transcript did not always match with the protein expression in tissues. The current gene profile can be the platform for further exploration of the molecular mechanism of NEOC.
    Matched MeSH terms: Receptor, Fibroblast Growth Factor, Type 3/genetics*
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