• Journal of Genetic Medicine
• /
• v.18 no.1
• /
• pp.64-69
• /
• 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
• /
• v.45 no.6
• /
• pp.360-364
• /
• 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
• /
• v.26 no.11
• /
• pp.1529-1535
• /
• 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.

• Korean Journal of Poultry Science
• /
• v.45 no.4
• /
• pp.291-298
• /
• 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
• /
• v.32 no.6
• /
• pp.2125-2128
• /
• 2011

• Asian-Australasian Journal of Animal Sciences
• /
• v.26 no.10
• /
• pp.1374-1378
• /
• 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.

• Journal of the Korean Society of Safety
• /
• v.34 no.4
• /
• pp.1-5
• /
• 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.

• Proceedings of the Korean Society of Precision Engineering Conference
• /
• 2006.10a
• /
• pp.621-662
• /
• 2006

• Journal of the Korean Ceramic Society
• /
• v.55 no.4
• /
• pp.344-351
• /
• 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.

• Food Science and Preservation
• /
• v.8 no.4
• /
• pp.427-433
• /
• 2001

The purpose of this study was to investigate the effect of chitosan on the shelf-life and quality of Paeksulkis(Korea rice cake). Paeksulgis containing 0-0.5% chitosan were stored at 5$^{\circ}C$ for 4 week and 2$0^{\circ}C$ for 1 week to test the effect of extenting shelf-life of Paeksulgis by chitosan. The pH of Paeksulkis was 5.65 without chitosan and pH of those were about 7.0(6.94-7.01) with 0.05-0.5% level of chitosan. Moisture content of Paekrukis wish or without chitosan was 38-40%. In Hunter’s color values of Paeksulkis of control, the lightness (L) was 84.28, redness(a) was -1.56 and yellowness(b) was 7.68. The lightness (L), redness(a) and yellowness(b) of Paeksulkis were increased by the increasing concentration of chitosan. In mechanical characteristics, cohesiveness concentration of Paeksulkis were the highest in control while obtained the highest score in color, after swallowing and overall quality (p<0.05). The score of flavor and consistency of Paeksulkis with different levels of chitosan wre not significant while the score of moisture in Paeksulkis with 0.05-0.5% level of chitosan was significantly higher than control (p<0.05). The score of flavor and consistency of Paeksulkis with different levels of chitosan were not significant while the score of moisture in Paeksulkis with 0.05-0.5% level of chitosan was significantly higher than control (p<0.05). Total bacterial counts (TBC) of Paeksulgis immediately before storage were 4.2$\times$10$^2$CFU/g in control and those containing 0.3-0.5% of chitosan were 0.5-1.0 log cycle lower than control. TBC of Paelsulgis containing chitosan was lower than increased for 2 weeks, reached at 1.8$\times$10$^{5}$ CFU/g and decreased for 2 weeks, reached at 1.8$\times$10$^4$CFU/g during storage at 5$^{\circ}C$. TBC of Paeksulkis with more than 0.3% of chitosan were 1.9 log cycles lower than that of control during storage at 5$^{\circ}C$. TBC of Paeksulkis with more than 0.3% of chitosan were 1.9 log cycles lower than that of control during storage at 5$^{\circ}C$ for 4 weeks. TBC of Paeksulgis increased to 10$^{8}$ CFU/g in control and 10$^{6}$-10$^{7}$ CFU/g in more than 0.3% chitosan during storage at 20$^{\circ}C$ for 1 week. The shelf-life of Paeksulkis was increased with increasing concentration of chitosan both temperature at 5$^{\circ}C$ and 20$^{\circ}C$.