• Title/Summary/Keyword: Family G11

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Germline Variations of Apurinic/Apyrimidinic Endonuclease 1 (APEX1) Detected in Female Breast Cancer Patients

  • Ali, Kashif;Mahjabeen, Ishrat;Sabir, Maimoona;Baig, Ruqia Mehmood;Zafeer, Maryam;Faheem, Muhammad;Kayani, Mahmood Akhtar
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.18
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    • pp.7589-7595
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    • 2014
  • Apurinic/apyrimidinic endonuclease 1 (APEX1) is a multifunctional protein which plays a central role in the BER pathway. APEX1 gene being highly polymorphic in cancer patients and has been indicated to have a contributive role in Apurinic/apyrimidinic (AP) site accumulation in DNA and consequently an increased risk of cancer development. In this case-control study, all exons of the APEX1 gene and its exon/intron boundaries were amplified in 530 breast cancer patients and 395 matched healthy controls and then analyzed by single-stranded conformational polymorphism followed by sequencing. Sequence analysis revealed fourteen heterozygous mutations, seven 5'UTR, one 3'UTR, two intronic and four missense. Among identified mutations one 5'UTR (rs41561214), one 3'UTR (rs17112002) and one missense mutation (Ser129Arg, Mahjabeen et al., 2013) had already been reported while the remaining eleven mutations. Six novel mutations (g.20923366T>G, g.20923435G>A, g.20923462G>A, g.20923516G>A, 20923539G>A, g.20923529C>T) were observed in 5'UTR region, two (g.20923585T>G, g.20923589T>G) in intron1 and three missense (Glu101Lys, Ala121Pro, Ser123Trp) in exon 4. Frequencues of 5'UTR mutations; g.20923366T>G, g.20923435G>A and 3'UTR (rs17112002) were calculated as 0.13, 0.1 and 0.1 respectively. Whereas, the frequency of missense mutations Glu101Lys, Ser123Trp and Ser129Arg was calculated as 0.05. A significant association was observed between APEX1 mutations and increased breast cancer by ~9 fold (OR=8.68, 95%CI=2.64 to 28.5) with g.20923435G>A (5'UTR), ~13 fold (OR= 12.6, 95%CI=3.01 to 53.0) with g.20923539G>A (5'UTR) and~5 fold increase with three missense mutations [Glu101Lys (OR=4.82, 95%CI=1.97 to 11.80), Ser123Trp (OR=4.62, 95%CI=1.7 to 12.19), Ser129Arg (OR=4.86, 95%CI=1.43 to 16.53)]. The incidence of observed mutations was found higher in patients with family history and with early menopause. In conclusion, our study demonstrates a significant association between germ line APEX1 mutations and breast cancer patients in the Pakistani population.

New Korean Record of Highfin Moray Gymnothorax pseudothyrsoideus (Anguilliformes: Muraenidae) from Jeju Island (한국 제주도에서 채집된 곰치과(Muraenidae) 어류 1 미기록종, Gymnothorax pseudothyrsoideus)

  • Kang, Chung-Bae;Song, Young Sun;Park, Jin Woo;Kim, Jin-Koo;Jeong, Hyeon Gyeong
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.51 no.3
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    • pp.298-304
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    • 2018
  • A single specimen of Gymnothorax pseudothyrsoideus (424.0 mm TL) belonging to the family Muraenidae, order Anguilliformes, was collected from Jeju Island, Korea, for the first time. The specimen is characterized by jaws closing completely, canine teeth on jaws, teeth not exposed when mouth is closed, ovoid posterior nostril, and body color ranging from yellowish brown to brownish with small dark spots aggregating to form larger spots that from approximately four irregular rows along the body. A comparison of mitochondrial DNA 16S rRNA sequences indicated that this specimen corresponds well with G. pseudothyrsoideus (K2P distance, d=0.002) but differs from other Gymnothorax species (11.9-13.7%). Therefore, the new Korean name "Geu-mul-nun-gom-chi" is proposed for the species G. pseudothyrsoideus.

Identification and Phylogeny of the Human Endogenous Retrovirus HERV-W LTR Family in Cancer Cells

  • Yi, Joo-Mi;Kim, Hwan-Mook;Kim, Heui-Soo
    • Animal cells and systems
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    • v.6 no.2
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    • pp.167-170
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    • 2002
  • The long terminal repeats (LTRs) of human endogenous retrovirus (HERV) have been found to be coexpressed with sequences of closely located genes. It has been suggested that the LTR elements have contributed to the structural change or genetic variation of human genome connected to various diseases and evolution. We examined the HERV-W LTR elements in various cancer cells (2F7, A43l , A549, HepG2, MIA-PaCa-2, PC-3, RT4, SiHa, U-937, and UO-31). Using genomic DNA from the cancer cells, we performed PCR amplification and identified twelve new HERV-W LTR elements. Those LTR elements showed a high degree of sequence similarity (88-99%) with HERV-W LTR (AF072500). A phylogenetic tree obtained by the neighbor-joining method revealed that HERV-W LTR elements could be mainly divided into two groups through evolutionary divergence. Three HERV-W LTR elements (RT4-2, A43l-1, and UO3l-2) belonged to Group 1, whereas nine LTR elements (2F7-2, A549-1, A549-3, HepG2-3, MP2-2, PC3-1, SiHa-8, SiHa-10, and U937-1) belonged to Group 11. Taken together, our new sequence data of the HERV-W LTR elements may contribute to an understanding of tissue-specific cancer by genomic instability of LTR integration.

Optimization of Preparation Conditions and Analysis of Food Components for Chicken Head Soup Base (닭머리 육수 제조 조건의 최적화 및 성분 분석)

  • Choi, Sung-Eun
    • Journal of the Korean Society of Food Culture
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    • v.26 no.5
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    • pp.468-477
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    • 2011
  • Optimum preparation conditions for chicken head soup base were determined in terms of the effects of amount of chicken head and cooking time using response surface methodology based on sensory properties. Sensory properties that were evaluated were yellowness, turbidity, bloody, chicken-brothy, organ meat-like, and fat-like flavor. All values of sensory characteristics increased remarkably with an increase in the amount of chicken head and cooking time. The optimum amount of chicken head and cooking time were determined to be 1800 g and 150 minutes, respectively. Chicken head soup base had less fat, free amino acids, nucleotides, and its derivatives, but had significantly more cholesterol, sodium, and iron than whole chicken soup base. In flavor compound analysis, the amount of hexanal of the chicken head soup base, which is related to fat rancidity flavor, was 11-fold higher than that of the whole chicken soup base.

Availability Analysis of a System Having Three Units : Super Priority, Priority and Ordinary Under Pre-empty Resume Repair Policy

  • Singh, V.V.;Singh, S.B.;Ram, M.;Goel, C.K.
    • International Journal of Reliability and Applications
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    • v.11 no.1
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    • pp.41-53
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    • 2010
  • In the present paper we develop a mathematical model that facilitates the calculation of reliability of a complex repairable system having three units namely super priority, priority and ordinary. The system is analyzed with the application of Gumbel Hougaard copula when different types of repair possible at a particular state due to deliberate failure. Various reliability measures such as reliability, MTTF and profit function have been evaluated by using supplementary variable and Laplace transform techniques.

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Cohen-Gibson syndrome in a family: The first familial case report

  • Kang, Yeo Jin;Kim, Young Ok
    • Journal of Genetic Medicine
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    • v.18 no.1
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    • pp.70-74
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    • 2021
  • Cohen-Gibson syndrome (CGS) was first reported by Cohen et al., who identified the mutation of the gene encoding the embryonic ectoderm development (EED) in a patient with phenotypes similar to Weaver syndrome. CGS manifests as an overgrowth and intellectual disability, in addition to the characteristic facial features and organ anomalies. CGS has been reported in only 11 unrelated patients since 2015. A girl aged 6 years and 3 months presented with seizures. She had macrosomia, a dysmorphic face, and intellectual disability. Her mother and younger sister and brother also had macrosomia, intellectual disability, and similar facial features; additionally, her mother experienced seizures and had an arachnoid cyst, while her siblings had valvar pulmonary stenosis. Whole-exome sequencing for the proband revealed a mutation of EED (c.581A>G, p.Asn194Ser), which was also verified in the mother and both siblings using Sanger sequencing. This is the first report of familial CGS.

The Relationship between Opioids Use, Cortisol and DHEAS (마약성 진통제 사용과 Cortisol 및 DHEAS와의 관계)

  • Jung, Ji Hoon;Choi, Youn Seon;Kim, Seon Mee;Lee, June Young;Kim, Eun Hye;Kim, Jung Eun;Kim, E Yeon;Park, Hee Jin;Yoon, Dong Jin
    • Journal of Hospice and Palliative Care
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    • v.18 no.2
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    • pp.105-111
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    • 2015
  • Purpose: Fatigue, energy loss, feeling of helplessness, poor appetite, pain besides general weakness are major symptoms presented to terminally ill cancer patients. These symptoms are similar to those that appeared with adrenal insufficiency. Also, for terminally ill cancer patients who are hospitalized for palliative care, opioid agents are prescribed to control moderate to severe pain. We studied the relationship of opioid agents and adrenal insufficiency. Methods: From November 2013 through June 2014, we monitored the serum level of cortisol and dehydroepiandrosterone sulfate (DHEAS, serum) in 55 cancer patients who were over 18 years old and were treated at a hospice center. We also checked the treatment period and dosage of opioid agents. Results: The DHEAS level, treatment period and dosage of opioid agents did not have significant correlation. Correlation between the serum cortisol level and the opioid agent treatment period was not significant either, but the serum cortisol level was positively correlated with the dosage of opioid agents (P value 0.0322). Conclusion: This study did not identify a novel link between treatment period, dosage of opioid agents and adrenal insufficiency. But, the DHEAS level was mostly below the normal level in patients who were treated with opioid agents.

Immunomodulatory Effects of Cimicifugae Rhizoma Extracts in Macrophages

  • Pyo, Suh-Kneung;Kim, Byung-Oh;Choi, Hye-Sook;Son, Eun-Wha
    • Preventive Nutrition and Food Science
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    • v.11 no.4
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    • pp.268-272
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    • 2006
  • Cimicifugae Rhizoma (CR) belongs to the Ranunculaceae family, which has been traditionally used to treat climacteric complaints, antipyretics and diaphoresis as an alternative medicine for estrogen hormone replacement therapy with estrogens. Recently, it has been reported that different extract fractions of CR have various effects such as anti-allergic, anti-inflammatory and anti-proliferative activities. The current study investigated the immunomodulatory effects of Cimicifugae Rhizoma water extracts (CRE) in the macrophage-like cell line, Raw 264.7. Our results showed that CRE ($1\sim50\;{\mu}g/mL$) stimulated tumoricidal activity and NO production, whereas phagocytic activity was inhibited at the same concentrations. Additionally, iNOS mRNA expression was significantly increased in Raw 264.7 exposed to CRE as demonstrated by RT-PCR. These results indicate that the tumoricidal activity induced by CRE may be mediated by the production of NO and these activities may be useful for the treatment of diseases such as cancer.

A Case Study of Art Counseling for the Improvement of Self-Esteem and School Adjustment of Elementary School Students from Multicultural Family (다문화가정 초등학생의 자아존중감과 학교생활적응 향상을 위한 미술상담 사례연구)

  • Kim, Young-Mi;Cho, Bung-Hwan
    • The Korean Journal of Elementary Counseling
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    • v.11 no.1
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    • pp.93-106
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    • 2012
  • This study aimed at helping elementary school students from multicultural family in boosting their self-esteem and school adjustment by conducting the program of art Counseling. The research was carried out by performing art Counseling on two first-graders from multicultural family whom I have been supervising in the class at T elementary school in G City, South Chungcheong Province. The art Counseling program employed in the study is the one the researcher developed by reorganizing the programs used in previous studies in a way that would confirm to the aim of the research. A 40 minutes session was held twice a week from August 30, 2011 to October 6, 2011, resulting in a total of 10 sessions. The researcher herself conducted the sessions during after school at the first grade classroom of T elementary school. The following analyses were performed to generate results of elementary school students from multicultural family, "the test measuring self-esteem", "the test measuring the school life adjustment", "the K-HTP test" was conducted before and after the art counseling program. The results were analyzed through comparison. The foregoing analyses revealed that the art Counseling program is effective for elementary school students from multicultural family.

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Child Nutrition Survey in Rural Health Project Areas (농촌보건사업지역(農村保健事業地域)의 아동영양(兒童營養) 실태조사(實態調査))

  • Park,, Myung-Yun;Jang, Young-Ja;Seo, Jung-Sook;Mo, Su-Mi
    • Journal of Nutrition and Health
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    • v.13 no.1
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    • pp.15-26
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    • 1980
  • The main purposes of the nutrition and clinical surveys were to provide baseline information on the nutritional status of pre-school children in rural health demonstration project areas of the Korea Health Development Institute (KHDI) for nutrition guidance services for the MCH target group. The survey covered a total of 222 pre-school children and 135 mothers in Okgu Gun, Cholla Pukto Province from August 10 to August 17, 1979. The survey results are summarized as follows: 1) Family Environment Seventy percent of the households had more than three children, and the mean family sire was 6. Sixty-nine percent of the mothers and 47% of the fathers of the surveyed households were educated at or below the primary school level. The majority, 70% of the mothers, were aged between 20 years and 35 years. 2) Anthropometric Measurements and Hemoglobin Value 4.5% of the children were lower than 80% weight for age of the Korean standard, and 5.4% were lower than 85% arm circumference for age of the Jelliffe's standard resectively, and those were suffering from protein-energy malnutrition. Angular stomatitis were observed on 66.2% of the subjects. Mean hemoglobin value was 11.1g/100m1, and 44.2% of the subjects were categorized as anaemia. 3) Food and Nutrient Intake of animal foods was very low, ranging from 2.9 to 17%. Consumption of eggs was less than 2% of total food intake, and intake of legumes was also very scanty, between 0.8 to 3.7%. These data present evidence of very poor protein intake, quality as well as quantity. Energy intake of children was 60.0 to 64.4% of the recommended allowance, and mean protein intake only met 47.4% of the recommendation. Low intake of vitamins except thiamin were also found. 4) Mother's Nutrition Knowledge Eighty-five percent of the mothers were entirely ignorant regarding the 'five basic food group' which is most important fact on food and nutrition guidance. Mean knowledge score from 14 basic questions about food and nutrition was as low as 5.1. There was a significant positive correlation between mother's educational level and nutrition knowledge score. 5) Family Planning Variable There were significant correlation among maternal, family planning variables, and some of the nutritional and physical measurements. The study revealed that the mother's educational level and nutrition knowledge score are more crucial factors than the family planning variables on effecting food intakes on children. Recommendation : According to the results of the surveys, there were high incident rates of nutritional anaemia and angular stomatitis among pre-school children, and most of rural women had very limited knowledge about food and nutrition. As a main part of the health education activities, the community health workers should provide nutrition education to the village mothers to improve the nutrional status of young children in rural areas. Nutrional promotion at the primary health care level should be mainly based on appropriate nutrition education.

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