• Clinical and Experimental Reproductive Medicine
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• 제35권2호
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• pp.99-110
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• 2008

목 적: 착상전 유전진단은 환아를 출산할 가능성이 높은 부부들에게 정상아의 출산 기회를 제공해주는 보조생식술의 하나로서 널리 시행되고 있다. 골형성부전증은 상염색체 우성 유전질환으로서 뼈와 피부를 구성하는 결합조직의 이상으로 뼈가 잘 부러지는 특징을 가지고 있으며, 질환의 95% 이상은 COL1A1 또는 COL1A2 유전자의 이상으로 발병한다고 알려져 있다. 본 논문에서는 골형성부전증 환자 2 가계를 대상으로 5 주기의 착상전 유전진단을 시행하여 임신에 성공한 사례에 대해 보고하고자 한다. 연구방법: 착상전 유전진단 수행 전에 환자의 단일 림프구에서 증폭성공률과 allele drop-out (ADO) rate을 확인하기 위하여 임상전 검사를 수행하였다. 각각 원인 돌연변이로 확인된 COL1A1 유전자 c.2452G>A와 c.3226G>A를 가지고 있는 골형성부전증 2 가계를 대상으로 5 주기의 착상전 유전진단을 시행하였다. 생검한 할구로부터 원인 돌연변이를 진단하기 위하여 nested PCR 후 HaeIII 제한효소를 이용한 restriction fragment length polymorphism (RFLP) 분석방법과 direct sequencing 방법을 이용하여 진단을 실시하였다. 결 과: Genomic DNA를 이용하여 COL1A1 유전자 검사를 해 본 결과 각 가계의 원인 돌연변이는 c.2452G>A와 c.3226G>A임을 재확인하였으며, 단일세포를 이용한 임상전 검사 결과 첫 번째 사례의 경우 94.2%의 증폭성공률과 22.5%의 ADO rate을 나타내었고, 두 번째 사례의 경우 98.1%의 증폭성공률과 1.9%의 ADO rate를 나타내었다. 착상전 유전진단 결과 첫 번째 사례의 경우, 3 주기의 착상전 유전진단에서 총 34개의 배아 중 31개의 배아에서 진단에 성공하여 91.2% (31/34)의 진단성공률을 나타내었고, 총 19개의 정상 배아 중 8개의 배아 (2.7개/배아이식)를 이식하였다. 세 번째 주기에서 임신에 성공하였고 제왕절개로 건강한 아이를 분만하였다. 두 번째 사례의 경우 2 주기의 착상전 유전진단을 시행하였으며, 총 19개의 배아 모두 진단에 성공하여 100.0% (19/19)의 진단성공률을 나타내었고, 총 11개의 정상 배아 중 4개 (2개/배아이식)의 배아를 이식하였다. 두 번째 착상전 유전진단에서 임신에 성공하였고, 건강한 아이를 분만하였다. 결 론: 착상전 유전진단을 통한 골형성부전증 환자 2 가계에서의 성공적인 임신과 출산은 국내에서 처음으로 보고되는 임상 결과로, 본원의 착상전 유전진단방법은 효과적이고 확실한 방법으로써 앞으로도 더 많은 단일 유전자 이상의 유전질환을 가진 환자들에게 적용하게 될 것이며, 이는 이와 유사한 유전질환을 가지고 있거나 유전질환의 이환 가능성이 있는 부부들에게 정상아의 임신과 출산의 기회를 더욱 많이 제공할 수 있을 것이다.

• 대한전기학회:학술대회논문집
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• 대한전기학회 1995년도 하계학술대회 논문집 C
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• pp.1162-1164
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• 1995

In this paper, $TiO_2$-xmol%$V_2O_5$, x=0.0, 1.0, 2.0, 3.0 specimens are fabricated by Sol-Gel method. For the improvement of humidity sensitive characteristics for specimens, their microstructures are analysed and the optimum processing condition is established. Grain size increases with substitution rate of $V^{5+}$, on $Ti^{4+}$ site. Their humidity sensitive characteristics is good at 1mol% of $V_2O_5$ rate and heat-treated at $700^{\circ}C$. The capacitance of specimens decreases with frequency.

• 대한전기학회:학술대회논문집
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• 대한전기학회 1993년도 하계학술대회 논문집 B
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• pp.1119-1121
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• 1993

The PSN-PT-PZ ceramics doped with the Mn-oxide(0.5wt%) were fabricated by the mixed oxide method at 1250($^{\circ}C$) for 2(hr) and then the dielectric and pyroelectric properties were investigated with the compositions. In the 0.05PSN-0.4PT-0.55PZ specimen with 0.5(wt%) $MnO_2$, the pyroelectric coefficient was $6.6{\times}10^{-8}(C/Cm^2^{\circ}C)$, and the figure of merits for pyroelectric current and voltage were $27{\times}10^{-9},\;45{\times}10^{-12}$(C.Cm/J), respectibly.

• Journal of Periodontal and Implant Science
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• 제49권4호
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• pp.215-227
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• 2019

Purpose: To histologically characterize periodontal healing at 8 weeks in surgically created dehiscence defects in beagle dogs that received a collagen matrix with periodontal ligament (PDL) progenitor cells. Methods: The bilateral maxillary premolars and first molars in 6 animals were used. Standardized experimental dehiscence defects were made on the buccal side of 3 premolars, and primary culturing of PDL progenitor cells was performed on the molars. Collagen matrix was used as a scaffold and a delivery system for PDL progenitor cells. The experimental sites were grafted with collagen matrix (COL), PDL progenitor cells with collagen matrix (COL/CELL), or left without any material (CTL). Histologic and histomorphometric analyses were performed after 8 weeks. Results: The defect height from the cementoenamel junction to the most apical point of cementum removal did not significantly differ across the CTL, COL, and COL/CELL groups, at $4.57{\pm}0.28$, $4.56{\pm}0.41$, and $4.64{\pm}0.27mm$ (mean ${\pm}$ standard deviation), respectively; the corresponding values for epithelial adhesion were $1.41{\pm}0.51$, $0.85{\pm}0.29$, and $0.30{\pm}0.41mm$ (P<0.05), the heights of new bone regeneration were $1.32{\pm}0.44$, $1.65{\pm}0.52$, and $1.93{\pm}0.61mm$ (P<0.05), and the cementum regeneration values were $1.15{\pm}0.42$, $1.81{\pm}0.46$, and $2.57{\pm}0.56mm$ (P<0.05). There was significantly more new bone formation in the COL/CELL group than in the CTL group, and new cementum length was also significantly higher in the COL/CELL group. However, there were no significant differences in the width of new cementum among the groups. Conclusions: PDL progenitor cells carried by a synthetic collagen matrix may enhance periodontal regeneration, including cementum and new bone formation.

• Journal of Chest Surgery
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• 제52권3호
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• pp.162-164
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• 2019

A male patient weighing 2.5 kg was admitted for respiratory difficulty, and a large ventricular septal defect (VSD) was diagnosed. During care, sudden right leg swelling with a femur shaft fracture occurred. The patient's father had a history of recurrent lower extremity fractures; thus, osteogenesis imperfecta was considered. The patient's respiratory difficulty became aggravated, and VSD repair in the neonatal period was therefore performed with gentle sternal traction and great vessel manipulation under total intravenous anesthesia to prevent malignant hyperthermia. The patient was discharged without notable problems, except minor wound dehiscence. Outpatient genetic testing revealed that the patient had a COL1A1/COL1A2 mutation.

• 미생물학회지
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• 제23권1호
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• pp.9-12
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• 1985

증폭된 재조합 trp operon의 발현을 위한 숙주박테리아 개발의 일환으로 숙수 E. coli에 $aroP^{-}$ 변이를 도입하였다. $aroP^{-}$ 변이의 유도에는 trans po son Tn10을 사용하였으며 P1Kc파아지를 이용하여 숙주박테리아에 형질도입하였다. General aromatic amino acid transport system이 결여된 $aroP^{-}$ 변이주는 $\beta$-thienylalanine ($(2{\times}10^{-4}M)$). p-fluor-phenylalanine ($(2{\times}10^{-4}M)$) 그리고 5-methyltryptophan에 저항성을 가졌다. $aroP^{-}$ 변이주는 $aroP^{-}$ 야생주에 비해서 〔$[^3H]$-tryptophan uptake가 상당히 감소하였다. 또한 NaN, ($(2{\times}10^{-4}M)$)를 처리하였을 때의 ($[^3H]$)-tryptophan uptake 비율은 aroP 변이주가 $aroP^{-}$야생주보다 덜 감소하였다. E. coli $trpR^{-ts}/ColE_1 -trp^+$ 균주에 aroP 형질을 도입하였을 때 트립토판 방출이 $aroP^{-}$ 야생주에 비해서 4 배나 증가하였다.

• 대한전기학회:학술대회논문집
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• 대한전기학회 1997년도 하계학술대회 논문집 C
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• pp.1537-1539
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• 1997

In this study, the dielectric properties of $Pb(Mg_{1/3}Nb_{2/3})O_3-PbTiO_3$ Ceramics have been investigated as a addition of the amount of $MnO_2(0{\leq}x{\leq}0.9wt%)$. The Temperature-dependant dielectric characteristics of 0.9PMN-0.1PT relaxor ferroelectric system were improved by enhencing the extent of the diffuse phase transition(DPT). The maximum dielectric permittivity decreased by substitution $MnO_2$ and the dielectric loss decreased with increasing $MnO_2$ substitution amount. It is expected decreasing in inner heat energy for temperature with increasing $MnO_2$ substitution.

• Childhood Kidney Diseases
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• 제26권1호
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• pp.40-45
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• 2022

Purpose: Chronic kidney disease (CKD) has various underlying causes in children. Identification of the underlying causes of CKD is important. Genetic causes comprise a significant proportion of pediatric CKD cases. Methods: In this study, we performed whole-exome sequencing (WES) to identify genetic causes of pediatric CKD. From January to June 2021, WES was performed using samples from pediatric patients with CKD of unclear etiology. Results: Genetic causes were investigated using WES in 37 patients (17 males) with pediatric CKD stages 1 (n=5), 2 (n=7), 3 (n=2), 4 (n=2), and 5 (n=21). The underlying diseases were focal segmental glomerulosclerosis (n=9), congenital anomalies of the kidney and urinary tract including reflux nephropathy (n=8), other glomerulopathies (n=7), unknown etiology (n=6), and others (n=7). WES identified genetic causes of CKD in 12 of the 37 patients (32.4%). Genetic defects were discovered in the COL4A4 (n=2), WT1 (n=2), ACTN4, CEP290, COL4A3, CUBN, GATA3, LAMA5, NUP107, and PAX2 genes. WT1 defects were found in patients whose pathologic diagnosis was membranoproliferative glomerulonephritis, and identification of CUBN defects led to discontinuation of immunosuppressive agents. Genetic diagnosis confirmed the clinical diagnosis of hypoparathyroidism, sensorineural deafness, and renal disease; Alport syndrome; and Joubert syndrome in three of the patients with CKD of unknown etiology (COL4A4 [n=2], CUBN [n=1]). Extrarenal symptoms were considered phenotypic presentations of WT1, PAX2, and CEP290 defects. Conclusions: WES provided a genetic diagnosis that confirmed the clinical diagnosis in a significant proportion (32.4%) of patients with pediatric CKD.

• Imaging Science in Dentistry
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• 제35권4호
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• pp.191-198
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• 2005

Purpose: To characterize the effects of 2-deoxy-D-glucose (2DG) and quercetin (QCT) on cytokine secretion of IL-6, $TGF-\beta$ and gene expression of Col I in irradiated MC3T3-E1 cells Materials and Methods: The MC3T3-El cells were cultured in an a-MEM supplemented with 5mM 2DG or 10mM QCT and then the cells were incubated 12h before irradiation with 2, 4, 6, and 8Gy X-ray using a linear accelerator delivered at a dose rate of 1.5Gy/min. Level of IL-6 and $TGF-\beta$ was determined by ELISA. Also expression of Col I was examined by RT-PCR. Results: In accordance with the radiation dose, the amount of $TGF-\beta$ was not different in RA + QCT, but it showed a peak value in control and RA + 2DG at 4Gy on the 3rd day. However, all groups showed a decreasing tendency dose-dependently in RA+QCT on the 7th day (p<0.01). In accordance with the radiation dose, the amount of IL-6 increased dose-dependently in all groups on the 3rd day. On the 7th and 21st day, all groups showed peak values at 4Gy. RA+QCT showed a slightly increased amount of IL-6 at 2Gy, but it showed a slightly decreased amount at 4, 6, and 8Gy. In accordance with the period of culture after irradiation, the expression of Col I increased dose-dependently in RA+QCT. Conclusion: The result showed that QCT acted as radiosensitizer in the secretion of $TGF-\beta$ and gene expression of Col I during differentiation in irradiated MC3T3-E1 cells at the cellular level.

• 대한소아치과학회지
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• 제37권3호
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• pp.308-316
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• 2010

상아모세포는 부착분자들을 이용하여 기질에 부착하는 세포이며, 인테그린과 같은 부착분자들이 일련의 세포와 세포외기질을 인지하는 신호전달분자로 알려져 있다. 본 연구의 목적은 상아모세포(MDPC-23 세포)와 I형 아교질과의 상호작용과 TGF-${\beta}1$과 TNF-${\alpha}$가 세포부착분자의 발현에 미치는 영향을 알아보기 위해 시행하였다. 본 연구에서 MDPC-23 세포는 농도의존적으로 I형 아교질에 부착했으며, 면역형광염색법에서 MDPC-23 세포가 아교질에 부착할 때, 국소부착점에서 인테그린 ${\alpha}1$, ${\alpha}2$, CD44, FAK 그리고 paxillin의 발현양상을 관찰할 수 있었다. 싸이토카인 TGF-${\beta}1$은 MDPC-23 세포의 아교질에 대한 부착성 및 인테그린 ${\alpha}1$, ${\alpha}2$와 chondroitin sulfate의 발현을 증가시켰으며, RT-PCR의 결과에서는 인테그린 ${\alpha}1$의 mRNA의 양이 TGF-${\beta}1$에 의해서 증가되었음을 확인하였다. 결론적으로 MDPC-23 세포는 아교질에 부착 친화성을 갖고 있으며, 부착 시에 인테그린 ${\alpha}1$, ${\alpha}2$와 CD44 그리고 chondroitin sulfate와 같은 부착분자들이 관여한다. 그리고 TGF-${\beta}1$은 인테그린 ${\alpha}1$, ${\alpha}2$ 그리고 chondroitin sulfate와 같은 부착분자의 발현을 증가시켰다.