• Title/Summary/Keyword: Time-variant

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Association between RASSF1A Ala133Ser Polymorphism and Cancer Susceptibility: A Meta-Analysis Involving 8,892 Subjects

  • Bayram, Suleyman
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.8
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    • pp.3691-3698
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    • 2014
  • Background: Published studies on the association between the Ras Association Domain Family 1 isoform A (RASSF1A) Ala133Ser polymorphism and cancer susceptibility have yielded conflicting results. Thus, a meta-analysis was here performed to assess the possible association. Materials and Methods: All eligible case-control studies published up to November 2013 on the association between RASSF1A Ala133Ser polymorphism and cancer susceptibility were identified by searching PubMed, Web of Science, Science Direct and hand search. Bothfixed-effect and random-effect models were used to calculate pooled odds ratios (ORs) with 95% confidence intervals (CIs) by using the Comprehensive Meta-Analysis software version 2.2. Results: A total of 10 studies including 4,572 cancer cases and 4,320 controls were included in the meta-analysis. Overall, significantly increased cancer risk was associated with the variant Ser133 when all studies were pooled (Ser vs Ala: OR=1.51, 95% CI=1.08-2.12, $P_{heterogeneity}{\leq}0.001$; Ser/Ser+Ala/Ser vs Ala/Ala: OR=1.55, 95% CI=1.08-2.22, $P_{heterogeneity}{\leq}0.001$). Moreover, in subgroup analyses by cancer types, a significant association between RASSF1A Ala133Ser polymorphism and lung cancer risk was found (Ser vs Ala: OR=2.27, 95% CI=1.29-4.02, $P_{heterogeneity}$=0.61; Ser/Ser+Ala/Ser vs Ala/Ala: OR=2.42, 95% CI=1.33-4.42, $P_{heterogeneity}=0.75$). In addition, in subgroup analyses by ethnicity, it was found that the RASSF1A Ala133Ser polymorphism was associated with overall cancer risk in Asians (Ser vs Ala: OR=1.37, 95% CI=1.06-1.77, $P_{heterogeneity}=0.06$) and Caucasians (Ser/Ser+Ala/Ser vs Ala/Ala: OR=2.21, 95% CI=1.01-4.82, $P_{heterogeneity}{\leq}0.001$). Conclusions: This meta-analysis suggests, for the first time, that RASSF1A Ala133Ser polymorphism may contribute to cancer susceptibility, especially for lung cancer. Besides, additional well-designed studies with larger sample size focusing on different ethnicities and cancer types are needed to confirm these findings.

Lack of Association of BRCA1 and BRCA2 Variants with Breast Cancer in an Ethnic Population of Saudi Arabia, an Emerging High-Risk Area

  • Hasan, Tarique Noorul;Shafi, Gowhar;Syed, Naveed Ahmed;Alsaif, Mohammed Abdullah;Alsaif, Abdulaziz Abdullah;Alshatwi, Ali Abdullah
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.10
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    • pp.5671-5674
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    • 2013
  • Incidence of breast cancer shows geographical variation, even within areas of ethnic homogeneity. Saudi Arabia has witnessed an increase in occurrence of breast cancer in its unexplored ethnic populations over the past few years. We aimed at determining whether any association exists between single nucleotide polymorphisms in breast cancer associated gene 1 (BRCA1) and breast cancer associated gene 2 (BRCA2) and the risk of breast cancer. TaqMan based Real Time Polymerase chain reaction genotyping assays were used to determine the frequency of single nucleotide polymorphisms in BRCA1 (rs799917) and BRCA2 (rs144848) in a group of 100 breast cancer patients and unaffected age matched controls of Saudi Arabian origin. The present data revealed that neither BRCA1 nor the BRCA2 studied variant show any significant association with the disease. This study failed to find any role of the concerned variants in breast cancer either as risk or as prognostic factors. The small number of patients registered was one of the limitations of this study. In summary, comparison of mutation profile with other ethnic populations and regions reflected both differences and similarities indicating co-exposure to a unique set of risk factors. The differences could be due to exposure to particular environmental carcinogens; different lifestyle, reproductive pattern; dietary or cultural practices of Saudi Arabian women that need further investigations.

Distinct mutations in MLH1 and MSH2 genes in Hereditary Non-polyposis Colorectal Cancer (HNPCC) families from China

  • Wei, Wenqian;Liu, Fangqi;Liu, Lei;Li, Zuofeng;Zhang, Xiaoyan;Jiang, Fan;Shi, Qu;Zhou, Xiaoyan;Sheng, Weiqi;Cai, Sanjun;Li, Xuan;Xu, Ye;Nan, Peng
    • BMB Reports
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    • v.44 no.5
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    • pp.317-322
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    • 2011
  • Hereditary non-polyposis Colorectal Cancer (HNPCC) is an autosomal dominant inheritance syndrome. HNPCC is the most common hereditary variant of colorectal cancer (CRC), which accounts for 2-5% CRCs, mainly due to hMLH1 and hMSH2 mutations that impair DNA repair functions. Our study aimed to identify the patterns of hMSH2 and hMLH1 mutations in Chinese HNPCC patients. Ninety-eight unrelated families from China meeting Amsterdam or Bethesda criteria were included in our study. Germline mutations in MLH1 and MSH2 genes, located in the exons and the splice-site junctions, were screened in the 98 probands by direct sequencing. Eleven mutations were found in ten patients (11%), with six in MLH1 (54.5%) and five in MSH2 (45.5%) genes. One patient had mutations in both MLH1 and MSH2 genes. Three novel mutations in MLH1 gene (c.157_160delGAGG, c.2157dupT and c.-64G>T) were found for the first time, and one suspected hotspot in MSH2 (c.1168C>T) was revealed.

Research on the Saekdong in the late 20th Century on the magazines (20세기 후반(1955-1995) 인쇄매체에 나타난 색동에 대한 연구)

  • Kim, Yeo-Kyung;Kim, Jeong-Min;Hong, Na-Young
    • Journal of the Korean Society of Costume
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    • v.62 no.6
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    • pp.154-164
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    • 2012
  • The purpose of this study was to investigate the modernizations of traditional Saekdong by analyzing the magazines from the 1955 to 1995. The application of Saekdong extended during the 1950s. Before, Saekdong was only used for children; however, women were wearing it during this period. With the advancement of the fabric industry in the 1960s, a great popularity of Saekdong was witnessed and its application extended even further. During the 1970s, the Saekdong was applied in westernized clothes; however, the 1980s was a time of renaissance for Saekdong as the awakening of national identity movement began. The application of Saekdong in westernized clothes became more popular during the 1990s as the widespread of industrial designing was inspired by the tradition. The functional aspect of Saekdong such as recycling the leftover fabrics decreased over the years whereas the decorative aspect increased. The form of Saekdong became more variant. The Saekdong was applied either as a part or whole of the clothes. With the development of the mechanically woven Saekdong, various widths and forms of Saekdong, not only vertical lines but also diagonal and wave lines, appeared. The colors also changed. During the 1990s, low chroma and gradation methods were applied. Gold and silver threads also were woven together. The motifs were created and gilts were printed on Saekdong.

Cloning of Chicken Microsomal Glutathione S-transferase 1 Gene (MGST1) and Identification of Its Different Splice Variants

  • Wang, X.-T.;Zhang, H.;Zhao, C.-J.;Li, J.-Y.;Xu, G.-Y.;Lian, L.-S.;Wu, C.-X.;Deng, Xuemei
    • Asian-Australasian Journal of Animal Sciences
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    • v.22 no.2
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    • pp.155-161
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    • 2009
  • Mammal microsomal glutathione transferase 1 (MGST1) can conjugate many toxic or carcinogenic substances and depress oxidative stress. In this study, Chicken MGST1 and its variants were cloned for the first time and were composed of 956 or 944 nucleotides. The 12 nt deletion in the exon 2 did not alter the GT-AG rule and the ORFs for the two MGST1 variants were the same, which both comprised 465 nucletides and encoded a peptide with 155 amino acids. It was found that the two different splice variants identified using RT-PCR expressed in all three organs investigated of Dwarf Brown Chicken, namely liver, spleen and shell gland. Moreover, the expression level of MGST1 mRNA in the liver of Dwarf Brown chickens was the highest (p<0.01), and there were no significant differences between the spleen and the shell gland. These results provide a base for studying the biological function of Chicken MGST1.

Possible Roles of the Xenobiotic Transporter P-glycoproteins Encoded by the MDR1 3435 C>T Gene Polymorphism in Differentiated Thyroid Cancers

  • Ozdemir, Semra;Uludag, Ahmet;Silan, Fatma;Atik, Sinem Yalcintepe;Turgut, Bulent;Ozdemir, Ozturk
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.5
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    • pp.3213-3217
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    • 2013
  • Background: P-glycoprotein (Pgp), encoded by the multidrug resistance 1 (MDR1) gene, is an efflux transporter which plays an important role in pharmacokinetics. The current preliminary study was designed to determine associations between a germ-line polymorphism in the MDR1 gene with differentiated thyroid carcinoma (DTC). Materials and Methods: In the current case-control study, 60 differentiated thyroid cancers (DTC)- 45 papillary TC (PTC), 9 follicular TC(FTC) and 6 well-differentiated tumors of uncertain malignant potential (WDT-UMP) were examined. Results were compared to a healthy control group (n=58) from the same population. Genomic DNA was extracted from peripheral blood with EDTA and the target gene was genotyped by real-time PCR. Results: Carriers of the variant allele of MDR1 exon 26 polymorphism were at 2.8-fold higher risk of DTC than the control group (odds ratio [OR]: 0.3805, 95% confidence interval [Cl]: 0.1597-0.9065 (p> 0.046). Conclusions: Presented results suggest that the MDR1 3435TT genotype might influence risk of development of DTC and that the CC genotype might be linked to a poor prognosis. Large-scale studies are now needed to validate this association.

Mobile App Recommendation using User's Spatio-Temporal Context (사용자의 시공간 컨텍스트를 이용한 모바일 앱 추천)

  • Kang, Younggil;Hwang, Seyoung;Park, Sangwon;Lee, Soowon
    • KIPS Transactions on Software and Data Engineering
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    • v.2 no.9
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    • pp.615-620
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    • 2013
  • With the development of smartphones, the number of applications for smartphone increases sharply. As a result, users need to try several times to find their favorite apps. In order to solve this problem, we propose a recommendation system to provide an appropriate app list based on the user's log information including time stamp, location, application list, and so on. The proposed approach learns three recommendation models including Naive-Bayesian model, SVM model, and Most-Frequent Usage model using temporal and spatial attributes. In order to figure out the best model, we compared the performance of these models with variant features, and suggest an hybrid method to improve the performance of single models.

Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA ) in South Korea

  • Choi, Jung Yoon;Yun, Hyung Ho;Lee, Cha Gon
    • Journal of Genetic Medicine
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    • v.13 no.1
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    • pp.20-25
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    • 2016
  • Purpose: Xeroderma pigmentosum (XP) is rare autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. We reported the first molecularly confirmed Korean patient of XP by targeted exome sequencing. The prevalence of XP included all subtype and carrier frequency of XP-A the using public data were estimated for the first time in South Korea. Materials and Methods: We described a 4-year-old Korean girl with clinical diagnosis of XP. We performed targeted exome sequencing in the patient for genetic confirmation considering disease genetic heterogeneity and for differential diagnosis. We verified a carrier frequency of c.390-1G>C in XPA gene known as mutational hot spot using Korean Reference Genome Data Base. We estimated the period prevalence of all subtypes of XP based on claims data of the Health Insurance Review and Assessment Service in South Korea. Results: We identified homozygous splicing mutation of XPA (c.390-1G>C) in the patient. The carrier frequency of risk for XPA (c.390-1G>C) was relatively high 1.608 e-03 (allele count 2/1244). The prevalence of XP in South Korea was 0.3 per million people. Conclusion: We expect that c.390-1G>C is hot spot for the mutation of XPA and possible founder variant in South Korea. However, the prevalence in South Korea was extremely low compared with Western countries and Japan.

Cytologic Features of Papillary Immature Metaplasia of Uterine Cervix (유두상 미성숙 화생의 자궁경부 세포진 소견)

  • Kim, Hye-Sun;Seon, Mee-Im;Kim, Yee-Jung;Kim, Hy-Sook
    • The Korean Journal of Cytopathology
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    • v.13 no.1
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    • pp.21-27
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    • 2002
  • Papillary immature metaplasia (PIM) of the uterine cervix (Immature condyloma) is a subset of low grade squamous intraepithelial lesion (LSIL) which is frequently associated with human papilloma virus (HPV) types 6 and 11. The histologic features of PIM include filiform papillae lined by evenly spaced immature metaplastic-type cells with frequent nucleoli, mild anisokaryosis, and a low mitotic index. To characterize the cytologic changes associated with PIM, we analyzed 14 cases of PIM from our file. We reviewed biopsy slides and the cervicovaginal smears taken proximate to the time of blopsy. Histologically, nine cases had either flat condyloma (7 cases) or high grade squamous intraepithelial lesion (HSIL) (2 cases). Cytologic changes included cells in various stages of maturation with karyomegaly (14 cases), cells with irregularities in the nuclear membrane (13 cases), intermediate cells with karyomegaly(13 cases), cells with binucleatlon (13 cases), and aborted koliocytes (11 cases) Cervicovaginal smears from all cases were interpreted as atypical squamous cells of undetermined significance (ASCUS), NOS or ASCUS, rule out squamous intraepithelial lesion (SIL) or LSIL in two cases with flat condyloma or HSIL in a case with severe dysplasia. PIM is a distinct histologic entity that can present with a spectrum of cytologic findings, but cytologic findings may resemble variable reactive conditions and immature HSIL. Therefore, it is difficult to diagnose PIM by cytology alone. However, the meticulous efforts for making the cytologic diagnoses which can Induce active management of patients are recommended because PIM is a variant of LSIL and frequently has a flat condyloma or HSIL.

Relationship between articulation paper mark size and percentage of force measured with computerized occlusal analysis

  • Qadeer, Sarah;Kerstein, Robert;Kim, Ryan Jin-Yung;Huh, Jung-Bo;Shin, Sang-Wan
    • The Journal of Advanced Prosthodontics
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    • v.4 no.1
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    • pp.7-12
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    • 2012
  • PURPOSE. Articulation paper mark size is widely accepted as an indicator of forceful tooth contacts. However, mark size is indicative of contact location and surface area only, and does not quantify occlusal force. The purpose of this study is to determine if a relationship exists between the size of paper marks and the percentage of force applied to the same tooth. MATERIALS AND METHODS. Thirty dentate female subjects intercuspated into articulation paper strips to mark occlusal contacts on their maxillary posterior teeth, followed by taking photographs. Then each subject made a multi-bite digital occlusal force percentage recording. The surface area of the largest and darkest articulation paper mark (n = 240 marks) in each quadrant (n = 60 quadrants) was calculated in photographic pixels, and compared with the force percentage present on the same tooth. RESULTS. Regression analysis shows a bi-variant fit of force % on tooth (P<.05). The correlation coefficient between the mark area and the percentage of force indicated a low positive correlation. The coefficient of determination showed a low causative relationship between mark area and force ($r^2$ = 0.067). The largest paper mark in each quadrant was matched with the most forceful tooth in that same quadrant only 38.3% of time. Only 6 2/3% of mark surface area could be explained by applied occlusal force, while most of the mark area results from other factors unrelated to the applied occlusal force. CONCLUSION. The findings of this study indicate that size of articulation paper mark is an unreliable indicator of applied occlusal force, to guide treatment occlusal adjustments.