• Clinical and Experimental Pediatrics
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• 제53권12호
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• pp.1018-1021
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• 2010

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the $SALL1$ gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis of these syndromes. We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel $SALL1$ gene mutation.

• Asian-Australasian Journal of Animal Sciences
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• 제29권4호
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• pp.564-570
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• 2016

The Sal-like 1 gene (Sall1) is essential for kidney development, and mutations in this gene result in abnormalities in the kidneys. Mice lacking Sall1 show agenesis or severe dysgenesis of the kidneys. In a recent study, blastocyst complementation was used to develop mice and pigs with exogenic organs. In the present study, transcription activator-like effector nuclease (TALEN)-mediated homologous recombination was used to produce Sall1-knockout porcine fibroblasts for developing knockout pigs. The vector targeting the Sall1 locus included a 5.5-kb 5' arm, 1.8-kb 3' arm, and a neomycin resistance gene as a positive selection marker. The knockout vector and TALEN were introduced into porcine fibroblasts by electroporation. Antibiotic selection was performed over 11 days by using $300{\mu}g/mL$ G418. DNA of cells from G418-resistant colonies was amplified using polymerase chain reaction (PCR) to confirm the presence of fragments corresponding to the 3' and 5' arms of Sall1. Further, mono- and bi-allelic knockout cells were isolated and analyzed using PCR-restriction fragment length polymorphism. The results of our study indicated that TALEN-mediated homologous recombination induced bi-allelic knockout of the endogenous gene.

• Journal of Genetic Medicine
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• 제12권1호
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• pp.44-48
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• 2015

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.

• International Journal of Advanced Culture Technology
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• 제11권1호
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• pp.192-197
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• 2023

David Salle, born in Norman, Oklahoma in 1952, is the most important and controversial artist of the new-expressionist painting in the United States. His paintings are featured by unique artistic language, and extremely diverse and very ground-breaking expression, which reflect the American society at that time. Besides, he often uses complex image combination with striking colors and forms to attract and touch viewers. In this paper, based on the American new-expressionism, the painting language of David Salle's works was analysed, in which I found that it can be more intuitively and more profoundly feel the development of new-expressionist painting context and David Salle's particularity, and more clearly realize under what the characteristics of the era David Salle created the unique artistic language. The study on David Salle's unique painting language is of important research value and reference significance for our current artistic creation.

• 대한생식의학회:학술대회논문집
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• 대한생식의학회 2007년도 제53차 추계학술대회 초록집
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• pp.137-137
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• 2007

• Preventive Nutrition and Food Science
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• 제2권3호
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• pp.219-224
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• 1997

The pancreas is an important organ in the maintenance of zine homeostasis. The pancreatic tissue used in this study was obtained from rats fed varying levels of dietary Ca nd phytate followed by intraperitoneal {TEX}${65}^Zn${/TEX} injection. THe objective of this study was to determine the molecular size and distribution of compounds that may represent zinc-binding complexes in pancreatic tissue homogenates. The supernatant of the homogenized pancreatic tissue was separated using a Sephadex G-75 column with Tris buffer at pH 8.1. All subfractions were assayed for zinc, protein and {TEX}${65}^Zn${/TEX} activity. The elution of subfractions from pancreatic tissue homogenates showed a prominent peak corresponding to the high molecular weight protein standard (>66kd). A sall molecular weigth protein (<6.5kd), that was absorbed at 280nm, was also present: prominently in low Ca group, however not much as in high Ca group. These small compounds may combine weakly with zinc in pancreatic tissue an serve as zinc-binding ligands in pancreatic/biliary fluid. In the duodenum, these ligands dissociate zinc into an ionic form which becomes vulnerable to phytate complexation.

• 미생물학회지
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• 제24권1호
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• pp.7-11
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• 1986

Pseudomonas의 분해계 플라스미드와 이들에 유용한 벡터를 개발하기 위해서 본 연구실에서 분리, 보존하고 있는 Pseudomonas 중에서 P.putita KU 190으로부터 하나의 플라스미드를 분리하여 그 특성을 해석코저 하였다. size marker로 RP4와 pSy343를 사용하여 플라스미드의 크기를 결정한 바 41Kb로 나타났으며, 이 플라스미드를 pKU 41라 명명하였다. 제한효소 Bglll, BamHl, Eco Rl, HindIII, Sall등으로 이 플라스미드를 소화하여 이들의 제한효소 pattern을 조사한 결과, Bg III가 1. BamHl 3, Hin dIll는 3, EcoRI은 6 그리고 SalI은 13개 이상의 절단부위를 가지고 있었다. 이 제한효소의 절단부위, 토막들의 크기로부터 BamHI, HindIII에 대한 지도를 작성하였다. 플라스미드의 생울학적 기능을 조사하기 위하여 탄화수소 자화능에 대한 큐어링 실험을 하였으나 이로부터 뚜렷한 관련성 여부를 관찰할 수 없었다.

• International Journal of Stem Cells
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• 제16권1호
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• pp.36-43
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• 2023

Background and Objectives: Lymphoblastoid cell lines (LCLs) deposited from disease-affected individuals could be a valuable donor cell source for generating disease-specific induced pluripotent stem cells (iPSCs). However, generation of iPSCs from the LCLs is still challenging, as yet no effective gene delivery strategy has been developed. Methods and Results: Here, we reveal an effective gene delivery method specifically for LCLs. We found that LCLs appear to be refractory toward retroviral and lentiviral transduction. Consequently, lentiviral and retroviral transduction of OCT4, SOX2, KFL4 and c-MYC into LCLs does not elicit iPSC colony formation. Interestingly, however we found that transfection of oriP/EBNA-1-based episomal vectors by electroporation is an efficient gene delivery system into LCLs, enabling iPSC generation from LCLs. These iPSCs expressed pluripotency makers (OCT4, NANOG, SSEA4, SALL4) and could form embryoid bodies. Conclusions: Our data show that electroporation is an effective gene delivery method with which LCLs can be efficiently reprogrammed into iPSCs.

• 한국전자파학회논문지
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• 제8권2호
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• pp.185-196
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• 1997

본 논문에서는 SAR에 대한 개념 및 이론, 해상도에 대한 정의 및 웅용분야를 통해 SAR 설계 및 분석시 필수 적인 사항을 고찰하였다. 방위 해상도를 구하는 3가지 기볍인 실개구면, Unfocused 및 Focused 기법의 해상도 성취능력에 대해 시율레이션을 통하여 비교 분석하였다. 신호처리 계산량에 대한 부담이 적고 저가의 비용으로 구현이 가능한 Unfocused 기법을 적용할 수 있는 제한 된 조건을 도출하기 위하여 시율레이션을 수행하였다. 본 논문에서 설정한 SAR 영상의 용도는 재난피해 파악 동의 민수분야 및 전술적인 목적의 군수분야 둥과 같이 제한된 구역의 전반적인 상황을 판단하는데 적용하는 것 이다. 이러한용도로사용할수있는SAR플랫폼으로RPV및 중소형 항공기가선정되었으며, 해상도가5-15 m라는 것을 알 수 있었다. 시율레이션을 통하여 관련 변수들을 trade-off한 결과 이 임무에 적합한 범위가 레이 다 거리는 3,000 m 이하, 파장은 0.024-0.3 m, 개구면 길이는 1-10 m였으며, 이러한 제한된 조건에서 두 개의 점표적에 대한 3가지 기볍의 원 신호 및 신호처리 결과를 보였다. 따라서 본 논문에서 제시한 결과는 원거리에서 소규모 표적식별과 같이 고정밀도의 해상도가 요구되는 분야이 외에 제한된 조건에서는 Unfocused 기법을 활용하는 것이 몇가지 측면에서 유용하다는 것올 제시하였다.