• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제34권5호
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• pp.525-531
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• 2008

CDH-13(T-cadherin), which is one of a kind among the 20 cadherins, can be found mainly in wall of aorta, neuron, spleen, blood vessel etc. It is also called H-cadherin. This structural difference can explain that CDH-13 is thought to play a key role in maintaining mutual relation between extra and intra-cellular environment rather than in cell adhesion. The main function of CDH-13 is to participate in blood vessel function. Additionally, it is known to regulate cell growth and cell contact inhibition. When cells are proliferating, cell surface perceives other cells so that substance such as CDH-13 can inhibit their growth or proliferation resulting in homeostasis without endless proliferation or invasion of connective tissue boundaries. However, tumor cell itself appears to be different from normal cells' growth, invasion or transmission. Therefore, it can be diagnosed that these characteristics are closely related to expression of CDH-13 in tumor cells. This study is to investigate expression of CDH-13 in SCC and its correlation with promoter methylation. 20 of tissue species for the study are excised and gathered from 20 patients who are diagnosed as SCC in department of OMS, dental hospital, dankook university. To find development of CDH-13 in each tissue samples, immunohistochemical staining, RT-PCR gene analysis and methylation specific PCR are processed. The results are as follows. 1.Immunohistochemical staining: In normal oral squamous epithelial tissue, strong expression of CDH-13 was found in cell plasma membrane of basal cell layer. On the other hand, in case of low-differentiated oral SCC, development of CDH-13 was hardly seen. 2.The development of CDH-13 gene: In 9 of samples, expression of CDH-13 gene could be seen and 2 of them showed low expression compared to the others. And rest of the 11 samples showed no expression of CDH-13 gene. 3.Methylation of CDH-13 gene: Among 9 samples which expressed CDH-13 gene, 7 of them showed unmethylation. In addition, among 11 samples without CDH-13 gene expression, 10 showed methylation. According to the results stated above, promoter methylation were found in 13 samples(65%) among 20 of oral SCC samples. In low-differentiated SCC, suppression of gene expression could be seen accompanying promoter methylation. These phenomenon of gene expression was proved by immunohistochemical investigation. Finally, for development of oral SCC, conclusions can be made that suppression of CDH-13 played a main role and suppression of gene expression was originated from promoter methylation. Considering this, it is expected that suppression of CDH-13 from promoter methylation to be utilized as a good diagnostic marker of oral SCC.

• Asian Pacific Journal of Cancer Prevention
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• 제15권12호
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• pp.4925-4928
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• 2014

Background: This study aimed to evaluate the methylation of RASSF1A and CDH13 gene promoter regions as a marker for monitoring chemotherapeutic efficacy with personalized medicine for patients with NSCLC, in the hope of providing a new direction for NSCLC individualized chemotherapy. Materials and Methods: 42 NSCLC patients and 40 healthy controls were included. Patient blood samples were collected in the whole process of chemotherapy. Methylation of RASSF1A and CDH13 gene promoter regions was detected by the methylation specific polymerase chain reaction (MSP). Results: The rate of RASSF1A and CDH13 gene methylation in 42 cases of NSCLC patients was significantly higher than in 40 healthy controls (52.4% to 0.0%, 54.8% to 0.0%, p<0.05). After the chemotherapy, the hyper-methylation of RASSF1A and CDH13 genes in PR group and SD group decreased significantly (p<0.05), and was significantly different from that in PD group (p<0.05), but not as compared with healthy controls (P>0.05). With chemotherapy, RASSF1A and CDH13 promoter region methylation rate in 42 cases of patients showed a declining trend. Conclusions: The methylation level of RASSF1A and CDH13 gene promoter region can reflect drug sensitivity of tumors to individualized treatment.

• Asian Pacific Journal of Cancer Prevention
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• 제16권3호
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• pp.1139-1143
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• 2015

In order to explore the association between cadherin 13 (CDH13) gene promoter methylation and lung carcinoma (LC) risk, we carried out a meta-analysis with searching of PubMed, Web of Science. Ultimately, 17 articles were identified and analysised by STATA 12.0 software. Overall, we found a significant relationship between CDH13 promoter methylation and LC risk (odds ratio=6.98, 95% confidence interval: 4.21-11.56, p<0.001). Subgroup analyses further revealed that LC risk was increased for individuals carrying the methylated CDH13 compared with those with unmethylated CDH13. Hence, our study identified a strong association between CDH13 gene promoter methylation and LC and highlighted a promising potential for CDH13 methylation in LC risk prediction.

• Childhood Kidney Diseases
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• 제13권1호
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• pp.84-91
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• 2009

저자들은 선천성 가로막 탈장을 동반한 선천성 신증후군 신생아에서 WT1 유전자 돌연변이와 범발성맥관막 경화증으로 진단하였기에 문헌 고찰과 함께 보고하는 바이다. 본 여아는 출생 직후 선천성 가로막 탈장이 발견되어 응급 교정수술을 받았고 전신부종, 핍뇨, 단백뇨, 저알부민혈증, 고뇨소질소혈증, 고크레아티닌혈증이 지속되어 선천성 신증후군에 의한 조기 신부전으로 진단되었다. 생후 22일째부터 복막투석 시작하였으나 뇌출혈과 다기관부전으로 생후 34일째 사망하였다. 사후 신생검에서 범발성 맥관막 경화증으로 확인되었다. 염색체 검사에서 정상소견(46,XX) 보였고 사후 유전자 검사에서 Arg366Hisin WT1 과오 돌연변이를 보였다. 본 예는 선천성 신증후군에 선천성 가로막 탈장이 동반된 드문 예로 WT1 유전자의 Arg366His 과오 돌연변이가 DDS와 CDH의 발생에 병인으로 관여할 것이라는 가설을 지지하는 4번째 증례라는 점에서 중요한 의미가 있다.

• Genomics & Informatics
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• 제9권3호
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• pp.102-113
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• 2011

C-terminal SRC kinase (CSK) is a ubiquitously expressed, cytosolic enzyme that phosphorylates and inactivates several SRC family protein tyrosine kinases. Recent genomewide association studies have implicated CSK in the regulation of blood pressure. The current study aim is to determine the blood pressure association of the genes regulated by CSK down-regulation. The CSK mRNA expression was downregulated in vascular smooth muscle cells using small interfering RNA (siRNA). CSK mRNA levels fell by 90% in cells that were treated with CSK siRNA; the RNA from these cells was examined by microarray using the Illumina HumanRef-8 v3 platform, which comprises 24,526 reference mRNA probes. On treatment with CSK siRNA, 19 genes were downregulated by more than 2-fold and 13 genes were upregulated by more than 2-fold. Three (CANX, SLC30A7, and HMOX1) of them revealed more than 3 fold differential expression. Interestingly, the HMOX1 SNPs were associated with diastolic blood pressure in the 7551 Koreans using Korea Association REsource data, and the result was supported by the other reports that HMOX1 linked to blood vessel maintenance. Among the remaining 29 differentially expressed genes, seven (SSBP1, CDH2, YWHAE, ME2, PFTK1, G3BP2, and TUFT1) revealed association with both systolic and diastolic blood pressures. The CDH2 gene was linked to blood pressures. Conclusively, we identified 32 differentially expressed genes which were regulated by CSK reduction, and two (HOMX1 and CDH2) of them might influence the blood pressure regulation through CSK pathway.

• 대한소아치과학회지
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• 제43권2호
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• pp.166-175
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• 2016

이전 연구에서 사람의 치수와 치주인대의 기능에 대한 구체적인 3만 2천여개의 인체 유전자의 RNA 활성 정보는 없었다. 본 연구의 목적은 사람 영구치에서 얻은 치주인대와 치수 조직 내의 RNA 유전자 발현을 보고하고 각각의 분자생물학적인 차이를 알아보는 것이다. cDNA 미세배열분석에서 두 조직 사이의 유전자 발현 수준에서 4배 이상 차이나는 유전자는 347개로 밝혀졌으며, 치주인대와 치수에서 각각 83개, 264개의 유전자 발현이 4배 이상 차이난다는 것을 보여주었다. 치주인대는 교원질 합성 (FAP), 교원질 분해 (MMP3, MMP9와 MMP13), 골 형성 및 개조 (SPP1, BMP3, ACP5, CTSK와 PTHLH)와 관련된 유전자가 강하게 발현되었다. 반면 치수조직은 칼슘 이온 (CALB1, SCIN와 CDH12)과 법랑질 또는 상아질의 광화 및 형성 (SPARC/SPOCK3, PHEX, AMBN과 DSPP)와 관련한 유전자의 발현이 높게 나타났다. 이들 유전자 중 SPP1, SPARC/SPOCK3, AMBN, DSPP 등의 유전자는 치아의 기능과 관련해서 잘 알려져 있지만, 다른 유전자들은 microarray 분석을 통해서 새롭게 발견된 유전자이다. 이 유전자들은 추가적인 연구가 수행된다면 재생 치료의 좋은 요인을 찾는데 도움이 될 것으로 생각된다.

• Journal of Animal Science and Technology
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• 제62권3호
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• pp.293-305
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• 2020

The difference in the breeding programs and population history may have diversely shaped the genomes of Korean native cattle breeds. In the absence of phenotypic data, comparisons of breeds that have been subjected to different selective pressures can aid to identify genomic regions and genes controlling qualitative and complex traits. In this study to decipher genetic variation and identify evidence of divergent selection, 3 Korean cattle breeds were genotyped using the recently developed high-density GeneSeek Genomic Profiler F250 (GGP-F250) array. The three Korean cattle breeds clustered according to their coat color phenotypes and breeding programs. The Heugu breed reliably showed smaller effective population size at all generations considered. Across the autosomal chromosomes, 113 and 83 annotated genes were identified from Hanwoo-Chikso and Hanwoo-Heugu comparisons, respectively of which 16 genes were shared between the two pairwise comparisons. The most important signals of selection were detected on bovine chromosomes 14 (24.39-25.13 Mb) and 18 (13.34-15.07 Mb), containing genes related to body size, and coat color (XKR4, LYN, PLAG1, SDR16C5, TMEM68, CDH15, MC1R, and GALNS). Some of the candidate genes are also associated with meat quality traits (ACSF3, EIF2B1, BANP, APCDD1, and GALM) and harbor quantitative trait locus (QTL) for beef production traits. Further functional analysis revealed that the candidate genes (DBI, ACSF3, HINT2, GBA2, AGPAT5, SCAP, ELP6, APOB, and RBL1) were involved in gene ontology (GO) terms relevant to meat quality including fatty acid oxidation, biosynthesis, and lipid storage. Candidate genes previously known to affect beef production and quality traits could be used in the beef cattle selection strategies.