• Title/Summary/Keyword: site deficiency

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CRISPR/Cas9-mediated generation of a Plac8 knockout mouse model

  • Lee, HyunJeong;Kim, Joo-Il;Park, Jin-Sung;Roh, Jae-il;Lee, Jaehoon;Kang, Byeong-Cheol;Lee, Han-Woong
    • Laboraroty Animal Research
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    • v.34 no.4
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    • pp.279-287
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    • 2018
  • Placenta specific 8 (PLAC8, also known as ONZIN) is a multi-functional protein that is highly expressed in the intestine, lung, spleen, and innate immune cells, and is involved in various diseases, including cancers, obesity, and innate immune deficiency. Here, we generated a Plac8 knockout mouse using the CRISPR/Cas9 system. The Cas9 mRNA and two single guide RNAs targeting a region near the translation start codon at Plac8 exon 2 were microinjected into mouse zygotes. This successfully eliminated the conventional translation start site, as confirmed by Sanger sequencing and PCR genotyping analysis. Unlike the previous Plac8 deficient models displaying increased adipose tissue and body weights, our male Plac8 knockout mice showed rather lower body weight than sex-matched littermate controls, though the only difference between these two mouse models is genetic context. Differently from the previously constructed embryonic stem cell-derived Plac8 knockout mouse that contains a neomycin resistance cassette, this knockout mouse model is free from a negative selection marker or other external insertions, which will be useful in future studies aimed at elucidating the multi-functional and physiological roles of PLAC8 in various diseases, without interference from exogenous foreign DNA.

Pontic site development with an implant submergence technique for unaesthetic implant in the anterior maxilla (상악 전치부 임플란트의 비심미성 개선을 위한 임플란트 침수(submergence)를 동반한 치조제 증대술)

  • Song, Yujeong;Lee, Ju-Youn
    • Journal of Dental Rehabilitation and Applied Science
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    • v.36 no.4
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    • pp.289-295
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    • 2020
  • Improving implant esthetics is very difficult, especially in cases where unaesthetic problems are related to implants in the maxillary anterior dentition. A 69-year old male patient was referred by a prosthodontist for periodic pus discharge and an unaesthetic implant prosthesis (maxillary right lateral incisor). The implant was placed too deeply and showed soft tissue volume deficiency and a long clinical crown. After a clinical and radiographic examination, implant submergence and alveolar ridge augmentation were performed to enhance the aesthetics instead of an explantation. The treatment plan was as follows: extraction the adjacent teeth with tooth mobility, secondary caries, and poor prognosis; placement an additional dental implant with hard and soft tissue grafting; fabrication a fixed bridge using implant abutments. A fixed esthetic prosthesis using implants was fabricated, and the patient was satisfied with the prosthesis. A ridge augmentation with implant submergence may be an alternative for solving the problems of unaesthetic implant restorations in the esthetic zone.

Genetic disruption of ATAT1 causes RhoA downregulation through abnormal truncation of C/EBPβ

  • Jee-Hye Choi;Jangho Jeong;Jaegu Kim;Eunae You;Seula Keum;Seongeun Song;Ye Eun Hwang;Minjoo Ji;Kwon-Sik Park;Sangmyung Rhee
    • BMB Reports
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    • v.57 no.6
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    • pp.293-298
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    • 2024
  • Microtubule acetylation has been shown to regulate actin filament dynamics by modulating signaling pathways that control actin organization, although the precise mechanisms remain unknown. In this study, we found that the downregulation of microtubule acetylation via the disruption ATAT1 (which encodes α-tubulin N-acetyltransferase 1) inhibited the expression of RhoA, a small GTPase involved in regulating the organization of actin filaments and the formation of stress fibers. Analysis of RHOA promoter and chromatin immunoprecipitation assays revealed that C/EBPβ is a major regulator of RHOA expression. Interestingly, the majority of C/EBPβ in ATAT1 knockout (KO) cells was found in the nucleus as a 27-kDa fragment (referred to as C/EBPβp27) lacking the N-terminus of C/EBPβ. Overexpression of a gene encoding a C/EBPβp27-mimicking protein via an N-terminal deletion in C/EBPβ led to competitive binding with wild-type C/EBPβ at the C/EBPβ binding site in the RHOA promoter, resulting in a significant decrease of RHOA expression. We also found that cathepsin L (CTSL), which is overexpressed in ATAT1 KO cells, is responsible for C/EBPβp27 formation in the nucleus. Treatment with a CTSL inhibitor led to the restoration of RHOA expression by downregulation of C/EBPβp27 and the invasive ability of ATAT1 KO MDA-MB-231 breast cancer cells. Collectively, our findings suggest that the downregulation of microtubule acetylation associated with ATAT1 deficiency suppresses RHOA expression by forming C/EBPβp27 in the nucleus through CTSL. We propose that CTSL and C/EBPβp27 may represent a novel therapeutic target for breast cancer treatment.

Suggestion for Integrated Process Quality Control for Facility Management of Smart City at Construction Stage (Smart City 시공단계 시설물 통합품질관리 프로세스 제안)

  • Park, In-Woo;Kim, In-Han;Choi, Jung-Sik
    • Journal of the Korea Institute of Building Construction
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    • v.16 no.6
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    • pp.535-544
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    • 2016
  • Korean government is promoting "K-Smart City" to overseas market which is an integrated solution of construction industry with ICT(Information and Communciations Technologies) industry. Due to nature of Smart City, construction quality and the development quality of the facilities need to be established to improve the overall quality. However, guidelines and regulations to initiate quality control for Smart City are behind the actual demand. This deficiency is bringing quality control for construction and ICT to be controlled separately causing lack of synergy and resulting in overall quality degradation. This research is designed to improve the construction quality of Smart City during its establishment stage by integrating ICT system with on-site construction (Integrated control center and on-site equipment). The adoption of this research to a real Smart City case had resulted in 22% reduction of construction inspection failure (Audit), and also allowed Construction Company to pre-align quality control of all purchased items of ICT Infra that resulted in 18% reduction of nonconformity, thus contributing to an overall quality improvement. This research is expected to be used widely among all construction industry of Smart City.

A-site Non-stoichiometric Effects of Bi0.5(Na0.78K0.22)0.5TiO3 Ceramics on the Dielectric and Electrical Properties (Bi0.5(Na0.78K0.22)0.5TiO3 세라믹스의 A-site 비화학양론이 유전 및 전기적 특성에 미치는 영향)

  • Park, Jung Soo;Lee, Ku Tak;Yun, Ji Sun;Cho, Jeong Ho;Jeong, Young Hun;Paik, Jong Hoo
    • Journal of the Korean Institute of Electrical and Electronic Material Engineers
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    • v.27 no.12
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    • pp.803-808
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    • 2014
  • $Bi_{0.5+x}(Na_{0.78}K_{0.22})_{0.5-3x}TiO_3$ ceramics with an excess $Bi^{3+}$ and a deficiency of $Na^+$ and $K^+$ were synthesized by a conventional solid state reaction method. The structure and morphology of $Bi_{0.5+x}(Na_{0.78}K_{0.22})_{0.5-3x}TiO_3$ ceramics were characterized by X-ray diffraction and field emission scanning electron microscopy. The electric polarization and mechanical strain induced by external electric field, and the temperature dependence of dielectric constant were investigated. These results demonstrated that an ergodic relaxor phase can be induced by controls of the mole ratio of $Bi^{3+}$, $Na^+$ and $K^+$. A phase boundary between non-ergodic and ergodic relaxor phases can be observed at ambient temperature. The ergodic relaxor phase can be transferred to the ferroelectric phase by application of the electric field. The stability of the induced ferroelectric phases strongly depends on the mole ratio of $Bi^{3+}$, $Na^+$ and $K^+$. The maximum strain of 0.31% was observed in $Bi_{0.51}(Na_{0.78}K_{0.22})_{0.47}TiO_3$ ceramics sintered at $1,150^{\circ}C$ for 2 h.

The History and Development of the Marine Environment QA/QC (Quality Assurance/Quality Control) Management System (해양환경 정도관리제도 운영에 대한 고찰)

  • PARK, MI-OK;PARK, JUN-KUN;KIM, SEONG-GIL;KIM, SEONG-SOO
    • The Sea:JOURNAL OF THE KOREAN SOCIETY OF OCEANOGRAPHY
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    • v.26 no.3
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    • pp.185-200
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    • 2021
  • The Marine Environment QA/QC management system has been operated since 2010 to secure the reliability of data and improve the analysis capabilities of measurement and analysis institutions. From 2010 to 2020, the cumulative number of measurement and analysis institutions participated in the QA/QC management system was 266. And the number of certificates issued by the ministry of oceans and fisheries is 182. A total of 32 reference materials for proficiency testing and interlaboratory comparisons have been developed. They were first developed focusing on items (Nutrients, COD) commonly analyzed in marine environmental measuring network, marine pollution impact surveys, sea area utilization impact assessment, deepsea water surveys, and information network on fishing ground environments. In addition, it is time to expand the filed of the QA/QC management system, such as seawater temperature, salinity, PCBs and PAHs in sediments, which are mainly analyzed in most monitoring programs. On-site assessment has been conducted for 162 laboratories according to ISO/IEC 17025 to evaluate their conformity of the quality management system and deficiency. In terms of management and technology requirements, about 4.2% of organizations showed insufficient division of duties among employees 8.7% of them revealed the lack of employee training. By test item, about 6.3% of organizations showed the lack of standard substance management and the state of the cleaning glassware was pointed out in about 5.4% of them. The QA/QC management system should be continuously supplemented by identifying the causes of nonconformities and area for improvement.

The Body of Male Domination and the Problem of the Phallic Ideology: The Strategy of the Deconstruction of Penis-Narcissism and the Penis-Cartel (남성지배의 몸과 남근 이데올로기의 문제: 페니스 나르시시즘과 페니스 카르텔의 해체전략)

  • YUN, Ji-Yeong
    • Journal of Korean Philosophical Society
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    • no.123
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    • pp.137-185
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    • 2018
  • This article aims to deconstruct the mechanism of male domination that constantly reproduces the hegemonic class of men. In order to overcome misogyny, we should no longer deny the ontological dimension of the reality of women's oppressions and the pre-eminence of the material condition of women's existence. In addition, the possibility of the category of women as a modality of resistance should be taken into consideration. First, I will highlight the correlation between penis and phallus according to which the phallus refers to the penis which is malleable and fragile and which disappears without being castrated by the external factor. From here we could deduce the fragility and imperfection, the non-absoluteness of the phallic order. Secondly, I will analyze the mechanism of penis-narcissism, which is the modality of the constitution of the individual identity of man. The penis is not only a physiological organ, but a site of self-estimation and the validity of the succession of power and authority of the father's law. With this penis-narcissism, man is constituted as a hegemonic body that can let itself go without worrying about the reactions of others. Thirdly, I will focus on the mechanism of the penis-cartel which is the modality of the formation of the collective identity. The penis-cartel is reinforced by the mutual affirmation of the superiority of men among themselves, but also by the permission and the tacit agreement of their absurdity and lack of rationality and corruption. Because the privilege of men is not monopolized by a small part of the elite, but is consciously and unconsciously shared by all men who are part of the hegemonic and collective category. In order to deconstruct the penis-narcissism and the penis-cartel, it is necessary to demonstrate that the penis is not a self-sufficient body, nor a closed and impermeable body, but that it is a porous body where the organ serves both ejaculation and urinary ejection. The penis is a porous body that is at once the site of sublimity and degradation, purity and impurity. In addition, the penis is no longer an all-powerful and aggressive organ, but it is a malleable and fluid flesh that constantly changes its shape. Linked to a phallus-organ that is the notion of Jacques-Alain Miller, it is a site of deficiency and vulnerability that is not the axis of the penis-cartel. It is through the notion of the double porosity of the penis and the phenomenology of the flesh of the penis, I try to provide the modality of undoing the reproductive mechanism of predatory masculinity. Because this would be an effective strategy to overcome misogyny.

Methylenetetrahydrofolate Reductase C677T Polymorphism in Gastric Cancer (위암에서 Methylenetetrahydrofolate Reductase C677T의 유전자 다형성)

  • Seo Won;Park Won Cheol;Lee Jeong Kyun;Kim Jeong Jung
    • Journal of Gastric Cancer
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    • v.5 no.1
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    • pp.10-15
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    • 2005
  • Purpose: Recently the role of vitamins, folate in particular, has been emphasized in the maintenance of health. Folate deficiency is known to give rise to developmental delay, immature vascular disease, neural tube defect, acute leukemia, atherosclerotic vascular disease, delivery defects, breast cancer, and particularly gastrointestinal neoplasia. Methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme in folate metaboism, and influences DNA synthesis and DNA methylation. Generally, folate deficiency is associated with gastrointestinal neoplasms. The amino-acid- changing and enzyme-activity-reducing nucleotide polymorphism (766C$\rightarrow$T/ Ala222Val) has been described in the MTHFR polymorphism and leads to low enzyme activity that may reduce the capacity of DNA methylation and possibly uracil mis-incorporation into DNA. These processes may be critical in the oncogenic transformation of human cells, especially in colorectal carcinomas. We investigated the relationship between the MTHFR polymorphism in gastric cancer and the tumor site, the smoking history, and the alcoholic history. Materials and Methods: Ninety-six (96) individuals with gastric cancer and 287 healthy persons were analyzed. Blood sampling was performed, PCR-RFLP was analyzed, and MTHFR polymorphism genotypes of C/C, C/T, and T/T were obtained and analyzed statistically for their correlation. Results: In the gastric cancer group there were 69 ($72\%$) males and 27 ($28\%$) females. There were also 58 cases ($60\%$) involving the gastric lower body, 20 cases ($21\%$) the gastric mid-body, and 18 cases ($19\%$) the gastric upper body. In the control group there were 169 ($59\%$) males and 118 ($41\%$) females. Among the gastric cancer, 56 ($61\%$) smoking patients, 40 ($39\%$) non-smoking patients, 45($47\%$) alcoholic patients, 51 ($53\%$) non-alcoholic patients. In the gastric cancer group, MTHER polymorphisms were C/C in 18 ($19\%$) cases, C/T in 59 ($61\%$) cases, T/T in 19 ($20\%$) cases. In the control group polymorphisms were C/C 116 ($40\%$) cases, C/T 103 ($36\%$) cases, and T/T 68 ($24\%$) cases (P=0.045). In cases of lower gastric body cancer, polymorphisms were C/C in 16 ($24\%$) C/C in 16 ($24\%$) cases and C/T or T/T in 42 ($72\%$) cases. In cases of upper and mid-body cancer, polymorphisms were C/C in 2 ($5\%$) cases and C/T or T/T 36 ($95\%$) cases (P=0.006). In the non-smoking patient group, polymorphisms were C/C in 5 (12%) cases and C/T or T/T in 35 ($88\%$) cases. In the smoking patient group, C/C in 13 ($23\%$) cases and C/T or T/T in 43 ($77\%$) cases (P=0.189). In the non-alcoholic patient group, polymorphisms were C/C in 6 ($12\%$) cases and C/T or T/T in 45 ($88\%$) cases. In the alcoholic patient group, polymorphisms were C/C in 12 ($26\%$) cases and C/T or T/T in 33 ($74\%$) cases (P=0.063) Conclusion: MTHFR polymorphisms are associated with gastric cancer and tumor site, but not with smoking and alcohol drinking.

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Marasmus and Kwashiorkor by Nutritional Ignorance Related to Vegetarian Diet and Infants with Atopic Dermatitis in South Korea (아토피피부염 영아의 영양장애 사례보고와 채식주의에 관한 고찰)

  • Chung Sang-Jin;Han Young Shin;Chung Seung Won;Ahn Kang-Mo;Park Hwa Young;Lee Sang Il;Cho Young Yeun;Choi Hye Mi
    • Journal of Nutrition and Health
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    • v.37 no.7
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    • pp.540-549
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    • 2004
  • Infants and children with food related Atopic Dermatitis (AD) need extra dietary efforts to maintain optimal nutrition due to food restriction to prevent allergy reactions. However, nutrition ignorance and food faddism make patients even more confused and practice desirable diet more difficult. The objective of this study was to report the AD patients' malnutrition cases in Korea. We report on 2 cases of severe nutritional deficiency caused by consuming macrobiotic diets which avoid processed foods and most animal foods, i.e. one of vegetarian diet. Case 1, a 12-month-old male child, was admitted with severe marasmus. Because of a history of AD, he was started on mixed grain porridge at 3 months without any breast milk or formula feeding. His caloric intake was 66% and protein intake was 69% of the recommended dietary allowance. Patient's height and weight was under 3th percentile. On admission the patient was unable to crawl or roll over. Case 2, a 9-month-old AD female patient, was diagnosed with kwashiorkor and rickets. She was also started on mixed grain porridge at 100 days due to AD. Her caloric intake has been satisfied recommended dietary allowance until 7 months, however, she conducted sauna bath therapy and reduced both energy and protein intake at 8 months. The amount of protein intake for case 2 was higher than recommended dietary allowance, but, sauna therapy and severe AD with intakes of low guality protein may increase patient's protein requirement resulting in kwashiorkor. Case 2 patient's height and weight was on 3th percentile. Both cases showed low intake of calcium, iron, zinc, vitamin A, vitamin E and especially very low intake of vitamin B$_{12}$ and vitamin D. Allergy tests for certain foods had not done prior to admission for both cases. They followed the dietary advise operated by macrobiotic diet internet site. In conclusion, AD infants' parents and caregivers should contact a pediatrician trained as a specialist in allergy for accurate diagnosis. For infant patients, breast or formula feeding including hypoallergenic formula should be continued until their one year of age. When certain foods need to be restricted or to follow special diets such as vegetarian diet, consultation with pediatrician and dietitian is needed.d.

Clinical Findings of Genotypes in Korean Patients with Glycogen Storage Disease Type Ia (한국인 당원병 제 Ia형에서 유전형의 임상 양상)

  • Ko, Jae Sung;Yang, Hye Ran;Kim, Jong Won;Seo, Jeong Kee
    • Clinical and Experimental Pediatrics
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    • v.48 no.8
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    • pp.877-880
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    • 2005
  • Purpose : Glycogen storage disease type Ia(GSD Ia) is an autosomal recessive disorder caused by the deficiency of glucose-6-phosphatase(G6Pase). The aim of the study was to investigate the spectrum of G6Pase gene mutations and relationship between genotype and clinical findings in Korean patients with GSD Ia. Methods : Genomic DNA was extracted from peripheral leukocytes of 20 patients with GSD Ia. The five exons of G6Pase gene were amplified and PCR products were directly sequenced. The frequency of short stature, hypoglycemia, hypercholesterolemia, hyperuricemia, hypercalciuria, nephrocalcinosis and hepatic adenoma was compared between 727G>T homozygotes and 727G>T compound heterozygotes. Results : A total of 5 different mutations were identified. The most common mutation was the 727G>T with an allele frequency of 80%. All patients were either homozygous(12/20) or heterozygous(8/20) for the 727G>T mutation. G122D was found in 3 patients, P178A in 1, G222R in 2, and S339R in 2. There was no difference in the frequency of short stature, hypoglycemia, hypercholesterolemia, hyperuricemia, nephrocalcinosis, and hepatic adenoma between 727G>T homozygotes and heterozygotes. Conclusion : Diagnosis of GSD Ia can be based on clinical and biochemical abnormalities combined with mutation analysis instead of enzymatic diagnosis that requires liver biopsy. Homozygosity for the 727G>T does not seem to alter the disease phenotype as compared with the heterozygous state.