• Journal of Genetic Medicine
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• 제18권2호
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• pp.147-151
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• 2021

The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (Online Mendelian Inheritance in Man #603736) is a rare autosomal dominant disorder and clinically features blepharophimosis with ptosis, a mask-like facial appearance, cryptorchidism, congenital heart defect, long thumbs/great toes, and thyroid dysfunction. The etiology of SBBYSS has been shown to be due to heterozygous KAT6B gene mutation. Here we report a case of a neonate with SBBYSS identified a novel mutation in KAT6B gene. The patient showed typical dysmorphic facies, cryptorchidism with micropenis, overriding fingers, and long thumbs and toes at birth. He had also hypothyroidism, large atrial septal defect, and sensorineural hearing loss. The next generation sequencing identified a heterozygous novel variant, c.5206C>T (p.Gln1736Ter) in KAT6B gene. At the 9 months of age, he underwent patch closure for atrial septal defect. Until the 12-month follow-up, he was under-developed.

• Journal of Ecology and Environment
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• 제38권1호
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• pp.47-56
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• 2015

Ailanthus altissima, which is recognized as an invasive tree in the Western world, has been widely observed in Japan. To investigate how A. altissima expanded within-population and to new populations within a region, 446 A. altissima trees were sampled from three separate sites (A, B, and C) including 35 distantly positioned patches, with three chloroplast DNA markers and nine nuclear microsatellite markers. We detected 2, 2, and 3 chloroplast haplotypes in sites A, B, and C, respectively. In addition, 271, 40, and 41 nuclear genotypes were detected in sites A, B, and C, respectively. The clonal richness value was 0.85, 0.78, and 0.53 in sites A, B, and C, respectively. Most trees with the same genotypes were distributed in the same patch, indicating that range expansion by asexual reproduction was limited to a maximum of 45 meters. According to autocorrelation analysis, the extent of nonrandom spatial genetic structure was approximately 0-2 km in sites A and C. KINGROUP analyses showed that 812, 74, and 111 nuclear genotype pairs were detected to have kinship in sites A, B, and C, respectively. Most nuclear genotype pairs were detected within the same patches or sites. These results indicate that the number of A. altissima trees gradually increased from seeds, some of which were produced by trees within sites, meaning that this species could regenerate naturally. This shows the need for the future management of A. altissima as an invasive species in Japan.

• 아시안잔디학회지
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• 제21권1호
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• pp.1-7
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• 2007

미농무성 NTEP의 자료를 이용하여 한국 기후에 적합한 creeping bentgrass 품종의 특성을 평가하였다. 벤트그래스 품종들 중에서 'L-93' 품종이 전체 평균 잔디품종 평가에서 가장 우수하였다. 특히 발아세 및 여름철의 피복율이 가장 높게 나왔다. 질감의 경우엔 'Penn A-1'과 'Penn A-2'가 높게 나왔지만 겨울철 내한성이 다른 품종들에 비하여 상당히 낮게 나왔다. 대취의 축적량은 잎 밀도가 상대적으로 낮은 'Penncross'를 비롯하여 'Pennlinks', 'Crenshaw', 'L-93' 품종들은 적은 반면, 잎 밀도가 높은 'Penn A'와 'Penn G' 계통의 품종들이 많았다. 이끼의 침입에 대한 저항성 정도는 'Penn A' 계통이 높았고 'Penncross' 품종은 가장 낮게 나타났는데, 이런 경향을 보인 것은 잎의 밀도와 시각적 잔디품질, 대취 축적량, 이끼 저항성은 밀접한 관계가 있는 것으로 판단되었다. 회색 설부병에 저항성을 보인 것은 'Penn A' 계통의 품종들이었으며 브라운팻취 내병성은 'Penncross'와 'Penn A' 계통이 높았다. 피시움병에서는 'Penncross', 'Pennlinks'가 높게 나왔다. 달라 스팟의 경우 'L-93'이 가장 높게 나와서 이 병에 대한 강한 저항성을 보였으나 피시움병에 대한 내병성은 낮은 것으로 분석되었다. 따라서 각 골프코스에서는 지금까지 널리 알려진 'Penncross' 그린의 관리방식과 달리 골프코스에 식재된 bentgrass의 품종에 잔디관리 방식을 적용하여야 할 것으로 판단된다.

• 대한임상검사과학회지
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• 제49권4호
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• pp.395-400
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• 2017

아토피 피부염은 만성염증 피부질환으로서 유전적 요소, 환경적 요소, 면역반응의이상, 피부장벽단백질의 기능 이상에 의하여 발생한다. 본 연구의 목적은 피부장벽단백질의 발현을 측정할 수 있는 ELISA 키트 개발에 있다. AriNo와 D-Squame 패치를 이용하여 비침습적으로 피부에서 단백질을 얻을 수 가 있었고, AriNO가 좀 더 많은 단백질을 획득하였다. 0.1% Triton X-100용액이 다른 용해용액인 0.1 M Tris-HCL, 5 mM KOH, 0.1% Tween-20보다 높은 단백질 수율을 나타냈다. 피부장벽 단백질 측정을 위한 ELISA 키트 개발을 위하여 분자생물학적인 방법을 이용하여 필라그린과 인보루크린의 재조합단백질을 생산하였고, 이에 대한 단일클론항체를 면역학적인 방법을 이용하여 만들었다. 아토피 피부염 환자의 피부에서는 필리그린의 발현이 유의하게 줄어들었고, 인보루크린은 정상인과 아토피 피부염 환자에서 차이를 나타내지 않았다. 본 연구의 결과를 통하여 아토피 피부염에서 피부장벽단백질의 중요성을 규명하였고, 향후 아토피 피부염의 진단키트를 개발하는데, 유용할 것이다.

• 대한본초학회지
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• 제20권3호
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• pp.1-7
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• 2005

Objectives : In this study, Folium Perillae were examined the possibility to apply as the cosmetics natural materials. Methods : Normal skin softener containing Folium Perillae extracts was manufactured and then its physiological activities function was experimented on. And emollient lotion containing Folium Perillae extracts was manufactured and then it was left under the condition of $-10^{\circ}C,\;0^{\circ}C$, room temperature and $37^{\circ}C$ for a month. Then its stability and safety were tested. Results : The physiological activities function of the normal skin softener was almost same with the electron donating ability, SOD like activity and xanthine oxidase inhibitory effect of Folium Perillae extracts. To find the changes of emollient lotion containing Folium Perillae extracts, the emollient lotion was left under the condition of $-10^{\circ}C,\;0^{\circ}C$, room temperature and $37^{\circ}C$ for a month. Then, when the emollient lotion was observed with the naked eye, pH, viscosity and particle diameter were measured, its changes were not nearly found. Futhermore, as a result of doing patch test to identify the safety of emollient lotion containing Folium Perillae extracts, there was no stimulus on skin. Conclusions : From the above results, it was expected that the physiological activities of Folium Perillae extracts can be maintained when cosmetics containing Folium Perillae extracts are manufactured. And it was proved that Folium Perillae extracts didn't affect the change of cosmetic when they were applied to cosmetic materials. And it was concluded that emollient lotion containing Folium Perillae extracts was safe for skin.