• Journal of Genetic Medicine
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• 제18권1호
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• pp.64-69
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• 2021

Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic Hedgehog (SHH) pathway. TBC1D32 is a ciliary protein, implicated in SHH signaling. Biallelic mutations in the TBC1D32 gene causes a kind of ciliopathy, heterogeneous developmental or degenerative disorders that affect multiple organs, including the brain. Here we report a boy who carried compound heterozygous variants in TBC1D32. The patient showed hypotonia, respiratory difficulty, and multiple anomalies at his birth. He was diagnosed with congenital hypopituitarism and treated with T4, hydrocortisone, and growth hormone. Despite the hormonal replacement, the patient needed long-term respiratory support with tracheostomy and nutritional support with a feeding tube. His developmental milestones were severely retarded. Hydrocephalus and strabismus developed and both required surgery, during the outpatient follow-up. Whole-exome sequencing indicated compound heterozygous variants, c.2200C>T (p.Arg734^*) and c.156-1G>T, in TBC1D32 gene. This is the first Korean case of TBC1D32-related ciliopathy and we reported detailed and sequential clinical features. This case demonstrated the utility of whole-exome sequencing and provided valuable clinical data on ultra-rare disease.

• Bulletin of the Korean Chemical Society
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• 제32권6호
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• pp.2125-2128
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• 2011

• 한국항공우주학회지
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• 제32권4호
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• pp.67-72
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• 2004

경험식을 이용한 1차원 해석에 의하여 30톤급 재생냉각 연소기의 냉각 유로 설계를 수행하였다. 1차원 해석에 의한 벽온도는 3차원 CFD 해석과 비교하여 약 100 K의 온도차이를 보였다. 동일한 냉각성능을 유지하면서 냉각 채널의 최대 폭이 4mm 와 2mm인 두 가지 설계안을 제시하였다. 냉각유체의 압력강하는 20% 증가할 것으로 예측되었다. 열차 폐 코팅과 탄소 침착물의 열저항을 고려한 경우, 최대 벽온도는 700K로 예측되었다. 본 연구에서 제시한 냉각 방법은 용량이 부족한 것으로 판단되는 바 막냉각이 추가적으로 적용되어야 할 것으로 판단된다.

• Journal of Animal Science and Technology
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• 제63권1호
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• pp.25-35
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• 2021

The purpose of this study is to estimate the single nucleotide polymorphism (SNP) effect for pH values affecting Berkshire meat quality. A total of 39,603 SNPs from 1,978 heads after quality control and 882 pH values were used estimate SNP effect by single step genomic best linear unbiased prediction (ssGBLUP) method. The average physical distance between adjacent SNP pairs was 61.7kbp and the number and proportion of SNPs whose minor allele frequency was below 10% were 9,573 and 24.2%, respectively. The average of observed heterozygosity and polymorphic information content was 0.32 ± 0.16 and 0.26 ± 0.11, respectively and the estimate for average linkage disequilibrium was 0.40. The heritability of pH45m and pH24h were 0.10 and 0.15 respectively. SNPs with an absolute value more than 4 standard deviations from the mean were selected as threshold markers, among the selected SNPs, protein-coding genes of pH45m and pH24h were detected in 6 and 4 SNPs, respectively. The distribution of coding genes were detected at pH45m and were detected at pH24h.