• 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.

• BMB Reports
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• 제45권6호
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• pp.360-364
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• 2012

Uptake of circulating glucose into the cells happens via the insulin-mediated signalling pathway, which translocates the glucose transporter 4 (GLUT4) vesicles from the intracellular compartment to the plasma membrane. Rab GTPases are involved in this vesicle trafficking, where Rab GTPases-activating proteins (RabGAP) enhance the GTP to GDP hydrolysis. TBC1D4 (AS160) and TBC1D1 are functional RabGAPs in the adipocytes and the skeletonal myocytes, respectively. These proteins contain two phosphotyrosine-binding domains (PTBs) at the amino-terminus of the catalytic RabGAP domain. The second PTB has been shown to interact with the cytoplasmic region of the insulin-regulated aminopeptidase (IRAP) of the GLUT4 vesicle. In this study, we quantitatively measured the ${\sim}{\mu}M$ affinity ($K_D$) between TBC1D4 PTB and IRAP using isothermal titration calorimetry, and further showed that IRAP residues 1-49 are the major region mediating this interaction. We also demonstrated that the IRAP residues 1-15 are necessary but not sufficient for the PTB interaction.

• Asian-Australasian Journal of Animal Sciences
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• 제26권11호
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• pp.1529-1535
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• 2013

The TBC1D1 plays a key role in body energy homeostasis by regulating the insulin-stimulated glucose uptake in skeletal muscle. The present study aimed to identify the association between genetic polymorphisms of TBC1D1 and body weight (BW) in rabbits. Among the total of 12 SNPs detected in all 20 exons, only one SNP was non-synonymous (c.214G>A. p.G72R) located in exon 1. c.214G>A was subsequently genotyped among 491 individuals from two rabbit breeds by the high-resolution melting method. Allele A was the predominant allele with frequencies of 0.7780 and 0.6678 in European white rabbit (EWR, n = 205) and New Zealand White rabbit (NZW, n = 286), respectively. The moderate polymorphism information content (0.250.05). Our results implied that the c.214G>A of TBC1D1 gene might be one of the candidate loci affecting the trait of 35 d BW in the rabbit.

• 한국가금학회지
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• 제45권4호
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• pp.291-298
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• 2018

TBC1D1 gene has known functional effects on body energy homeostasis and glucose uptake pathway in skeletal muscle tissue. This biological function is reported to have significant effects on traits of growth and meat quality in chicken. In this study, we focused on two single nucleotide polymorphisms (SNPs) (g.70179137A>G and g.70175861T>C) identified through SNP annotation information of Korean native chicken and previous literature for TBC1D1 in chicken. Association of SNPs in TBC1D1 with growth and serum clinical-chemical traits were evaluated. A total of 584 male and female birds from five Korean native chicken lines were used in the study. The SNP1 (g.70179137A>G) is located in intron 11 and SNP2 (g.70175861T>C) is a non-synonymous missense mutation in exon 10, responsible for the amino acid change from Methionine to Valine. The A allele of SNP1 and T allele of SNP2 had the highest allele frequencies. Both SNPs indicated moderate polymorphism information content values (0.25

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

• Asian-Australasian Journal of Animal Sciences
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• 제26권10호
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• pp.1374-1378
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• 2013

Based on a quantitative traits locus (QTL) study using a $F_2$ intercross between Landrace and Korean native pigs, a significant QTL affecting teat numbers in SSC7 was identified. The strong positional candidate gene, TBC1D21, was selected due to its biological function for epithelial mesenchymal cell development. Sequence analysis revealed six single nucleotide polymorphisms (SNPs) in the TBC1D21 gene. Among these, two SNP markers, one silent mutation (SNP01) for g.13,050A>G and one missense mutation (SNP04) for c.829A>T (S277C), were genotyped and they showed significant associations with teat number traits (p value = 6.38E-05 for SNP01 and p value = 1.06E-07 for SNP04 with total teat numbers). Further functional validation of these SNPs could give valuable information for understanding the teat number variation in pigs.

• 한국안전학회지
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• 제34권4호
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• pp.1-5
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• 2019

In the field of combined cycle power generation, thermal barrier coating(TBC) protects the super-heat-resistant alloy, which forms the core component of the gas turbine, from high temperature exposure. As the turbine inlet temperature(TIT) increases, TBC is more important and durability performance is also important when considering maintenance cost and safety. Therefore, studies have been made on the fabrication method of TBC and super-heat-resistant alloy in order to improve the performance of the TBC. In recent years, due to excellent properties such as high temperature creep resistance and high temperature strength, turbine blade material have been replaced by a single crystal superalloy, however there is a lack of research on TBC applied to single crystal superalloy. In this study, to understand the isothermal degradation performance of the TBC applied to the single crystal superalloy, isothermal exposure test was conducted at various temperature to derive the delamination life. The growth curve of thermally grown oxide(TGO) layer was predicted to evaluate the isothermal degradation performance. Also, microstructural analysis was performed by scanning electron microscope(SEM) and energy dispersive X-ray spectroscopy (EDS) to determine the effect of mixed oxide formation on the delamination life.

• 한국정밀공학회:학술대회논문집
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• 한국정밀공학회 2006년도 추계학술대회 논문집
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• pp.621-662
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• 2006

• 한국세라믹학회지
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• 제55권4호
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• pp.344-351
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• 2018

The effects of bond coat species on the growth behavior of thermally grown oxide (TGO) layer in thermal barrier coatings (TBCs) was investigated through furnace cyclic test (FCT). Two types of feedstock powder with different particle sizes and distributions, AMDRY 962 and AMDRY 386-4, were used to prepare the bond coat, and were formed using air plasma spray (APS) process. The top coat was prepared by APS process using zirconia based powder containing 8 wt% yttria. The thicknesses of the top and bond coats were designed and controlled at 800 and $200{\mu}m$, respectively. Phase analysis was conducted for TBC specimens with and without heat treatment. FCTs were performed for TBC specimens at $1121^{\circ}C$ with a dwell time of 25 h, followed by natural air cooling for 1 h at room temperature. TBC specimens with and without heat treatment showed sound conditions for the AMDRY 962 bond coat and AMDRY 386-4 bond coat in FCTs, respectively. The growth behavior of TGO layer followed a parabolic mode as the time increased in FCTs, independent of bond coat species. The influences of bond coat species and heat treatment on the microstructural evolution, interfacial stability, and TGO growth behavior in TBCs are discussed.

• 한국식품저장유통학회지
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• 제8권4호
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• pp.427-433
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• 2001

키토산을 각각 0% (Co), 0.05%(A), 0.1%(B), 0.3%(C), 0.5%(D)의 비융로 침가하여 백설기를 제조하여 키토산 첨가에 따른 백설기의 품질특성과 저장성을 조사하였다. 백설기의 품질특성은 pH, 수분함량, 색상, 기계적 texture를 측정하고 관능검사를 행하였으며 백설기의 저장성은 $5^{\circ}C 와 25^{\circ}C$. 에서 저장중 생균수의 변화를 조사하였다. 키토산을 첨가하지 않은 대조구의 pH는 5.65로 산성 올 나따낸 편이나 키토산 첨가군은 모두 pH 7청도로 높은 편이었으며 수분함량은 38-40%로서 시료간에 차이를 나타내지 않았다. 백셜기의 색상은 대조군의 명도 (L치)가 84.28, 적색도(a치)가 -1.56, 황색도(b치)가 7.68 이었으며 키토산의 증가에 따라 명도, 적색도, 황색도 모두 증가하는 경향이었고 $\Delta$E(색채)는 대조군에 비해 모든 군에서 차이를 나타내었으나 유의차는 볼 수 없었다. Texture 측정결과, 응집성(Cohesiveness)과 탄성 (Springness)은 대조군이 가장 높았으며 검성과 부서짐성 은 대조군에 비해 키토산의 챔가 함량이 중가할 수록 중가하는 경향을 나다내였다 관능검사결과, 대조군이 색상, 삼킨후의 느낌, 총합팽가에서 유의적으로 높았으며 향파 부드러운 정도는 유의적 차이가 없었고 촉촉한 정도는 키토산 첨가군이 대조군에 비하여 유의적으로 높은 접수를 얻었다(p<0.05). 떡의 저장직전의 생균.수는 대조구에서 $4.2\times102$C CFU/g이었으며 키토산 을 0.05 -0.1 % 첨가한 경우에는 대쪼구와 큰 차이가 없었으나 0.3-0.5% 첨가한 ;경우에 는 대조구보다 0.5 -1.0 log cycle 낯은 생균수 이었다 $5^{\circ}C$에서 4주일간 저장했윷 때 대조구는 저장 2주일까지 생균수의 증가를 냐타니}어 $8.1\times105$CFU/g에 도달한 후 $1.8\times104$CFU/g 으로 감소하였으며 키토산 첨가구는 0.3% 이상외 키토산 침가구는 대조구보다 1.9 log cycle 이상 낮은 생률수를 유치하였다 백성기를 20t에 l주일간 저장했을 때 대조구의 생균수는 108 많D/g 이상에 도짤하였으나 0.3%의 키토산 첨가구는 106_107 앉D/g에 도짤하였다 키토산 첨가 백설기의 Shelf~life는 $5^{\circ}C$와 $20^{\circ}C$에서 모두 대조구에 비하여 연장되는 효과를 나타내었다.