• Title/Summary/Keyword: 8p23.1

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De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence (De novo interstitial direct duplication 8(p21.3p23.1)을 보인 Pierre Robin sequence 1예)

  • Lee, Soon Min;Park, Min Soo;Park, Kook In;Namgung, Ran;Lee, Chul;Lee, Jin Seong;Lee, Kyung A;Choi, Jong-Rak
    • Clinical and Experimental Pediatrics
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    • v.52 no.5
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    • pp.603-606
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    • 2009
  • The Pierre Robin sequence (PRS) is the nonrandom association of micrognathia, cleft palate, and glossoptosis, leading to respiratory and feeding difficulties that appear neurogenic rather than mechanical in causation. Genetic determinants are thought to underlie this functional and morphological entity, based on the existence of Mendelian syndromes with PRS. Here, we demonstrate the association of PRS with trisomy 8p due to duplication of a segment as the karyotype 46,XX,dup(8)(p21.3p23.1) and confirm the additional materials as chromosome 8 via whole chromosome paint probes. Our observation supports the hypothesis regarding a genetic basis for nonsyndromic PRS, strengthens the possible genetic association with isolated cleft palate, and provides a candidate PRS locus in chromosomal region 8(p21.3p23.1).

IL-23 Inhibits Trophoblast Proliferation, Migration, and EMT via Activating p38 MAPK Signaling Pathway to Promote Recurrent Spontaneous Abortion

  • He, Shan;Ning, Yan;Ma, Fei;Liu, Dayan;Jiang, Shaoyan;Deng, Shaojie
    • Journal of Microbiology and Biotechnology
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    • v.32 no.6
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    • pp.792-799
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    • 2022
  • As a vital problem in reproductive health, recurrent spontaneous abortion (RSA) affects about 1% of women. We performed this study with an aim to explore the molecular mechanism of interleukin-23 (IL-23) and find optimal or effective methods to improve RSA. First, ELISA was applied to evaluate the expressions of IL-23 and its receptor in HTR-8/SVneo cells after IL-23 treatment. CCK-8, TUNEL, wound healing and transwell assays were employed to assess the proliferation, apoptosis, migration and invasion of HTR-8/SVneo cells, respectively. Additionally, the expressions of apoptosis-, migration-, epithelial-mesenchymal transition- (EMT-) and p38 MAPK signaling pathway-related proteins were measured by western blotting. To further investigate the relationship between IL-23 and p38 MAPK signaling pathway, HTR-8/SVneo cells were treated for 1 h with p38 MAPK inhibitor SB239063, followed by a series of cellular experiments on proliferation, apoptosis, migration and invasion, as aforementioned. The results showed that IL-23 and its receptors were greatly elevated in IL-23-treated HTR-8/SVneo cells. Additionally, IL-23 demonstrated suppressive effects on the proliferation, apoptosis, migration, invasion and EMT of IL-23-treated HTR-8/SVneo cells. More importantly, the molecular mechanism of IL-23 was revealed in this study; that is to say, IL-23 inhibited the proliferation, apoptosis, migration, invasion and EMT of IL-23-treated HTR-8/SVneo cells via activating p38 MAPK signaling pathway. In conclusion, IL-23 inhibits trophoblast proliferation, migration, and EMT via activating p38 MAPK signaling pathway, suggesting that IL-23 might be a novel target for the improvement of RSA.

Replication of the Association between Copy Number Variation on 8p23.1 and Autism by Using ASD-specific BAC Array

  • Woo, Jung-Hoon;Yang, Song-Ju;Yim, Seon-Hee;Hu, Hae-Jin;Shin, Myung-Ju;Oh, Eun-Hee;Kang, Hyun-Woong;Park, Seon-Yang;Chung, Yeun-Jun
    • Genomics & Informatics
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    • v.8 no.1
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    • pp.19-27
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    • 2010
  • To discover genetic markers for autism spectrum disorder (ASD), we previously applied genome-wide BAC array comparative genomic hybridization (array-CGH) to 28 autistic patients and 62 normal controls in Korean population, and identified that chromosomal losses on 8p23.1 and on 17p11.2 are significantly associated with autism. In this study, we developed an 8.5K ASD-specific BAC array covering 27 previously reported ASD-associated CNV loci including ours and examined whether the associations would be replicated in 8 ASD patient cell lines of four different ethnic groups and 10 Korean normal controls. As a result, a CNV-loss on 8p23.1 was found to be significantly more frequent in patients regardless of ethnicity (p<0.0001). This CNV region contains two coding genes, DEFA1 and DEFA3, which are members of DEFENSIN gene family. Two other CNVs on 17p11.2 and Xp22.31 were also distributed differently between ASDs and controls, but not significant (p=0.069 and 0.092, respectively). All the other loci did not show significant association. When these evidences are considered, the association between ASD and CNV of DEFENSIN gene seems worthy of further exploration to elucidate the pathogenesis of ASD. Validation studies with a larger sample size will be required to verify its biological implication.

Effect of Temperature, Time and pH on the Extraction of Protein in a Chrysalis of Silk Worm. (누에 번데기의 단백질 추출에 관한 연구)

  • 조철형;차월석;차월석
    • KSBB Journal
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    • v.4 no.2
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    • pp.65-68
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    • 1989
  • In order to determin the optimum extraction condition for protein in a Chrysalis of Silk Worm, Temperature, Time, and pH variation were conducted in the extraction. N.S.I. and nitrogen contents of the extracts in this condition were identified by Kjeldaha method and a C.H.N. corder. The results were as follows; Crude protein and crude fat contents in the extracts were 23.34% and 15.61%, respectively. N.S.I. values with respect to the temperature variation were 6.7% at 6$0^{\circ}C$, 7.94% at 8$0^{\circ}C$ and 8.67% at 10$0^{\circ}C$ in the condition of pH 4, 1 hr. N.S.I. values in pH variation were 7.94% at pH4, 8.99% at pH6, 9.70% at pH8, 10.19% at pH 10 and 12.16% at pH 12 in the condition of 8$0^{\circ}C$, 1hr. N.S.I. values in extraction time variation were 8.67% in 1hr, 9.23% in 2hr and 9.76% in 3hr in the condition of 10$0^{\circ}C$, pH 4. The tendency of N.S.I. variation in this extration condition was reconfirmed also by a C.H.N. corder.

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Spectrophotometric Investigation of Silver Complex Solution with Thiomicher's Ketone

  • Hong-Wen Gao
    • Bulletin of the Korean Chemical Society
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    • v.21 no.7
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    • pp.675-678
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    • 2000
  • The reaction between silver (I) and thiomicher's ketone (TMK) was sensitive at pH 5 and 8 in the presence of non-ionic or anion surfactant. We studied the complex solution and determined the properties by beta-correction spectrophotometry, which included the complex ratio and the stability constant of the complex. The results showed that complex Ag(TMK)2 was formed in the presence of alkylphend ethoxylates (emulsifier OP) and Ag(TMK)2 was formed in the presence of sodium dodecyl benzene sulfonate (SDBS). Their real absorptivities are as follows: $\varepsilonAg(TMK)540$ = 5.23 ${\times}$ 10(4), $\varepsilonAg(TMK)2(555)$ = l.05 ${\times}$ 10(5) Lmol(-l)cm(-1) both at pH 5 and $\varepsilonAg(TMK)2(555)$ = 7,52 ${\times}$ 10(4)lmol(-1)cm(-1) at pH 8. The stability constant of complex Ag(TMK) was equal to 1.23 ${\times}$ 10(5) at pH 5 and that of Ag(TMK)2 8.29 ${\times}$ 10(9) at pH 5 and 1.15 ${\times}$ 10(11) at pH 8.

Occurrence and Prognosis for the Thrombosis in the Drug-Eluting Stents and Bare-Metal Stents (약물 용출 스텐트와 일반 금속 스텐트에서 혈전증에 대한 발생과 예후)

  • Kim, In-Soo;Choi, Nam-Gil;Jang, Seong-Joo;Han, Jae-Bok;Jang, Young-Ill
    • The Journal of the Korea Contents Association
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    • v.12 no.7
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    • pp.273-283
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    • 2012
  • Drug-eluting stents (DES) have significantly reduced in-stent restenosis, compared to bare-metal stents (BMS). However, there remains concern for the increased risk of stent thrombosis (ST) associated with DES. The present study sought to evaluate the incidence, clinical characteristics and outcome of ST in patients with acute myocardial infarction (MI) during a 1-year follow-up. 80 patients who developed ST were divided into 2 groups according to stent type: group I (DES-ST, n = 57 ) and group II (BMS-ST, n = 23 ). There were no differences between group I and II in the overall incidence of ST (2.7% vs. 4.3%, p=0.064) and in the incidence of each type of ST: acute ST (8.8% vs. 2.3%), subacute ST (50.9% vs. 60.9%), late ST (19.3% vs. 8.7%), and very late ST (21.1% vs. 17.4%) (p=0.605). Predictors of 1-year mortality were the occurrence of ST (OR 8.12, 95% CI 2.83-23.61, p<0.001), left ventricular ejection fraction<40% (OR 6.41, 95% CI 2.42-16.96, p<0.001), and age${\geq}$75 years (OR 4.98, 95% CI 1.95-12.74, p=0.001).

Mapping of Gene Encoding Phospho-$\beta$-galactosidase from Lactobacillus casei and its Expression in Escherichea coli (Lactobacillus casei 의 Phospho-$\beta$-galactosidase 유전자의 지도작성과 Escherichia coli 내에서의 발현)

  • 박정희;문경희;민경희
    • Korean Journal of Microbiology
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    • v.30 no.6
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    • pp.539-545
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    • 1992
  • Recombinant plasmid pPLac15 determined both phosphoenolpyruvate-dependent phosphotransferase uptake of lactose and phospho-$\beta$-galactosidase (Moon et al., 1989). A restriction mapping of the pPLac15 was compiled with several restriction enzymes and a seriese of sub clones into pUC18 was constructed. From an analysis of the proteins produced by Escherichia coli cells of transformants containing each of the recombinant subclone plasmids, it was found that the gene for phospho-$\beta$-galactosidase in pUCI8 was expressed about 1.8-folds in E. coli.

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Unbalanced translocation der(8)t(8:13)(p23.3;q32.1)dn identified by array CGH and subtelomeric FISH in a patient with mental retardation (선천성 정신지체가 있는 der(8)t(8;13)(p23.3;q32.1) 핵형의 성인여성)

  • Lee, Soo-Min;Lee, Dong-Suk;Jeong, Hyun-Ah;Kim, Ki-Chul;Hwang, Do-Yeong
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.65-68
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    • 2008
  • Molecular cytogenetics allows the identification of unknown chromosome rearrangements, which is clinically useful in patients with mental retardation and/or development delay. We report on a 31-year-old woman with severe mental retardation, behavior development delay, and verbal performance delay. Conventional cytogenetic analysis showed a 46,XX,add(8)(p23.3) karyotype. To determine the origin of this unbalanced translocation, we performed array CGH and subtelomeric FISH. The results showed that the distal region of chromosome 8p was added to the terminal of chromosome 13q. This was confirmed the final result of 46,XX,der(8)t(8:13)(p23.3;q32.1)dn.

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Surface pH Of The Northeastern Pacific Ocean

  • Park, Kilho
    • 한국해양학회지
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    • v.1 no.1_2
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    • pp.1-6
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    • 1966
  • A latitudinal, differential pH distribution is observed in the Northeastern Pacific Ocean with a pH range of 8.15 at high latitude (42 N) to 8.29 at low latitude (23 N). These pH values are generally greater than the calculated equilibrium pH with respect to atmospheric carbon dioxide. If we assume that the calculated equilibrium pH values ae valid, then the surface waters are undersaturated with respect to the atmospheric carbon dioxide during April to June 1966. A high surface pH value of about 8.26 was observed immediately south of the SubarcticBoundary zone near 170 W. This value differs from the equilibration pH by as much as 0.1 unit.

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Genotype of rotavirus isolated from patients with rotaviral enteritis and neurological complications (신경학적 이상이 동반된 로타바이러스 위장관염 환아에서의 로타바이러스 유전형)

  • Choi, Jae Hyung;Kim, Jeong-Mi;Kim, Yong Joo;Oh, Jae Won;Kim, Chang Lyul;Yum, Myung Kul;Sul, In Joon;Kang, Jung Oak
    • Clinical and Experimental Pediatrics
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    • v.49 no.5
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    • pp.513-518
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    • 2006
  • Purpose : This study was undertaken to determine the differences in genotypes of rotavirus and their incidence between patients with acute rotaviral enteritis who suffered neurologic complications and those who did not suffer neurologic complications. Methods : Among the 82 patients with rotaviral enteritis whose genotype was analyzed, 71 patients were not associated with neurologic complications(neurology(-) group), and eleven patients were associated with neurologic complications(neurology(+) group). Four G genotypes and four P genotypes were determined by reverse trans cription and multiplex polymerase chain reaction. Results : In the neurology(-) group, the number of G4, G3, G2 and G1 was 24(35.3 percent), 23 (33.8 percent), 17(25.0 percent) and 4(5.6 percent), respectively and the number of P6, P4, P8 and P9 was 26(36.1 percent), 23(31.9 percent), 22(30.6 percent) and 1(1.4 percent), respectively. G2P4, and G4P6 were the most frequently found com bination genotypes, respectively. In the neurology(+) group, the number of G2, G3 and G4 was 9(75.0 percent), 2(16.7 percent) and 1(8.3 percent), respectively and the number of P4, P6, P8 and P9 was 8(66.7 percent), 2(16.7 percent), 1(8.3 percent) and 1(8.3 percent), respectively. G2P4 was the most frequently found combination genotype. The incidence of each of the G2, P4 and G2P4 was significantly higher in the neurology(+) group when compared to that of each of the G2, P4, and G2P4 in the neurology(-) group. Conclusion : In the patients with acute rotavirus gastroenteritis associated with neurologic complications, the G1 genotype was not found and genotypes of the G2, P4, and G2P4 were more frequently found.