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KRT13, FAIM2 and CYP2W1 mRNA Expression in Oral Squamous Cell Carcinoma Patients with Risk Habits
Hartanto, Firstine Kelsi,Karen-Ng, Lee Peng,Vincent-Chong, Vui King,Ismail, Siti Mazlipah,Mustafa, Wan Mahadzir Wan,Abraham, Mannil Thomas,Tay, Keng Kiong,Zain, Rosnah Binti Asian Pacific Journal of Cancer Prevention 2015 Asian Pacific journal of cancer prevention Vol.16 No.3
Background: Expression of KRT13, FAIM2 and CYP2W1 appears to be influenced by risk habits, thus exploring the associations of these genes in oral squamous cell cancer (OSCC) with risk habits, clinico-pathological parameters and patient survival may be beneficial in identifying relevant biomarkers with different oncogenic pathways. Materials and Methods: cDNAs from 41 OSCC samples with and without risk habits were included in this study. Quantitative real-time PCR was used to analyze KRT13, FAIM2 and CYP2W1 in OSCC. The housekeeping gene (GAPDH) was used as an endogenous control. Results: Of the 41 OSCC samples, KRT13 was down-regulated in 40 samples (97.6%), while FAIM2 and CYP2W1 were down-regulated in 61.0% and 48.8%, respectively. Overall, there were no associations between KRT13, FAIM2 and CYP2W1 expression with risk habits, selected socio-demographic and clinico-pathological parameters and patient survival. Conclusions: Although this study was unable to show significance, there were some tendencies in the associations of KRT13, FAIM2 and CYP2W1 expression in OSCC with selected clinic-pathological parameters and survival.
Maternal transmission effects of the PAX genes among cleft case–parent trios from four populations
Sull, Jae Woong,Liang, Kung-Yee,Hetmanski, Jacqueline B,Fallin, Margaret Daniele,Ingersoll, Roxanne G,Park, Jiwan,Wu-Chou, Yah-Huei,Chen, Philip K,Chong, Samuel S,Cheah, Felicia,Yeow, Vincent,Park, Be Macmillan Publishers Limited 2009 European journal of human genetics Vol.17 No.6
Isolated cleft lip with or without cleft palate (CL/P) is among the most common human birth defects, with a prevalence of 1 in 700 live births. The paired box (PAX) genes have been suggested as candidate genes for CL/P based largely on mouse models; however, few human studies have focused on this gene family. This study tests for association between markers in four PAX genes and CL/P using a case-parent trio design considering parent-of-origin effects. Trios from four populations (76 from Maryland, 146 from Taiwan, 35 from Singapore, and 40 from Korea) were genotyped for 34 single nucleotide polymorphisms (SNPs) in the PAX3, PAX6, PAX7, and PAX9 genes. We performed the transmission disequilibrium test (TDT) on individual SNPs. Parent-of-origin effects were assessed using the transmission asymmetry test (TAT) and the parent-of-origin likelihood ratio test (PO-LRT). TDT analysis showed one SNP (rs766325) in PAX7 yielding evidence of linkage and association when parent-of-origin was not considered, with an OR(transmission)=1.62 (P=0.003), and five SNPs in PAX6 (including two pairs in near perfect linkage disequilibrium). TAT analysis of all trios revealed two SNPs in PAX7 and four SNPs in PAX3 showing significant excess maternal transmission. For these six SNPs, the maternal OR(transmission) ranged between 1.74 and 2.40, and PO-LRT was also significant (P-values=0.035–0.012). When this analysis was limited to trios with male cases, SNPs in PAX7 showed higher maternal OR(transmission) and greater significance. PAX genes may influence the risk of CL/P through maternal effects, possibly imprinting, which seems to be stronger among male cases.European Journal of Human Genetics (2009) 17, 831–839; doi:10.1038/ejhg.2008.250; published online 14 January 2009
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations
Park, Ji Wan,McIntosh, Iain,Hetmanski, Jacqueline B,Jabs, Ethylin Wang,Kolk, Craig A Vander,Wu-Chou, Yah-Huei,Chen, Philip K,Chong, Samuel S,Yeow, Vincent,Jee, Sun Ha,Park, Beyoung Yun,Fallin, M Danie Springer Science and Business Media LLC 2007 Genetics in medicine Vol.9 No.4