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TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism
Zhang Hai-Yang,Wu Feng-Yao,Li Xue-Song,Tu Ping-Hui,Zhang Cao-Xu,Yang Rui-Meng,Cui Ren-Jie,Wu Chen-Yang,Fang Ya,Yang Liu,Song Huai-Dong,Zhao Shuang-Xia 대한진단검사의학회 2024 Annals of Laboratory Medicine Vol.44 No.4
Background: Genetic defects in the human thyroid-stimulating hormone (TSH) receptor (TSHR) gene can cause congenital hypothyroidism (CH). However, the biological functions and comprehensive genotype–phenotype relationships for most TSHR variants associated with CH remain unexplored. We aimed to identify TSHR variants in Chinese patients with CH, analyze the functions of the variants, and explore the relationships between TSHR genotypes and clinical phenotypes. Methods: In total, 367 patients with CH were recruited for TSHR variant screening using whole-exome sequencing. The effects of the variants were evaluated by in-silico programs such as SIFT and polyphen2. Furthermore, these variants were transfected into 293T cells to detect their Gs/cyclic AMP and Gq/11 signaling activity. Results: Among the 367 patients with CH, 17 TSHR variants, including three novel variants, were identified in 45 patients, and 18 patients carried biallelic TSHR variants. In vitro experiments showed that 10 variants were associated with Gs/cyclic AMP and Gq/11 signaling pathway impairment to varying degrees. Patients with TSHR biallelic variants had lower serum TSH levels and higher free triiodothyronine and thyroxine levels at diagnosis than those with DUOX2 biallelic variants. Conclusions: We found a high frequency of TSHR variants in Chinese patients with CH (12.3%), and 4.9% of cases were caused by TSHR biallelic variants. Ten variants were identified as loss-of-function variants. The data suggest that the clinical phenotype of CH patients caused by TSHR biallelic variants is relatively mild. Our study expands the TSHR variant spectrum and provides further evidence for the elucidation of the genetic etiology of CH.
Yang, Xia,Choi, Myeon-Song,Lee, Seung-Jae,Lim, Il-Hyung,Lim, Seong-Il The Korean Institute of Electrical Engineers 2008 Journal of Electrical Engineering & Technology Vol.3 No.4
In this paper, an integrated fault section detection and isolation strategy is proposed based on the application of the Distribution Automation System(DAS) utilizing advanced IT and communication technologies. The Feeder Remote Terminal Unit(FRTU) has been widely used to collect data in the Korean distribution system. The achieved data is adopted in this method for detecting multiple fault types. Especially in the case of single phase-to-ground fault, the fault section is detected by comparison of the zero-sequence current phase angle. The test results have verified the effectiveness of the proposed method in a radial distribution system through extensive simulations in Matlab/Simulink. Furthermore, a communication-based demo system identical to the simulation model has been developed, and it can be applied as an online monitoring and control program for fault section detection and isolation.
β-Cyclodextrin hydrogels containing naphthaleneacetic acid for pH-sensitive release
Yang, Xia,Kim, Jin-Chul Wiley Subscription Services, Inc., A Wiley Company 2010 Biotechnology and bioengineering Vol.106 No.2
<P>β-Cyclodextrin (β-CD) hydrogel was prepared in a strong alkali condition using epichlorohydrin (EPI) as a cross-linker, where the molar ratios of EPI to β-CD were 8:1, 10:1, and 15:1. In order to endow a pH sensitivity to the hydrogel, naphthaleneacetic acid (NAA) was loaded in the hydrogel by taking advantage of its hydrophobic interaction with the cavities of β-CD. The releases of blue dextran (a water-soluble dye) from the hydrogels were promoted, as the pHs of the media increased. When the molar ratio of EPI to β-CD was lower, the degrees of release were higher, and the pH dependency of the release became more prominent. In fact, the swelling ratio of the hydrogels having a lower molar ratio of EPI to β-CD was higher. The higher swelling ratio would account for the higher degree of release and the marked pH sensitivity. Biotechnol. Bioeng. 2010;106: 295–302. © 2010 Wiley Periodicals, Inc.</P>
A MODIFIED METHOD TO EXTRACT IMAGE CONTOURS
Yang, Xia Hua 대한전자공학회 1992 HICEC:Harbin International Conference on Electroni Vol.1 No.1
Contour extraction is a necessary procedure in some image processing problems. A useful method to extract image contours is based on the techniques of directional filtering and zero crossing detection. In this paper a modified method to improve this contour extraction is proposed.
( Yang Xia ),( Haijun Yu ),( Zhemin Zhou ),( Naoki Takaya ),( Shengmin Zhou ),( Ping Wang ) 한국미생물생명공학회(구 한국산업미생물학회) 2018 Journal of microbiology and biotechnology Vol.28 No.1
Most eukaryotic peroxiredoxins (Prxs) are readily inactivated by a high concentration of hydrogen peroxide (H<sub>2</sub>O<sub>2</sub>) during catalysis owing to their “GGLG” and “YF” motifs. However, such oxidative stress sensitive motifs were not found in the previously identified filamentous fungal Prxs. Additionally, the information on filamentous fungal Prxs is limited and fragmentary. Herein, we cloned and gained insight into Aspergillus nidulans Prx (An.PrxA) in the aspects of protein properties, catalysis characteristics, and especially H<sub>2</sub>O<sub>2</sub> tolerability. Our results indicated that An.PrxA belongs to the newly defined family of typical 2-Cys Prxs with a marked characteristic that the “resolving” cysteine (C<sub>R</sub>) is invertedly located preceding the “peroxidatic” cysteine (C<sub>P</sub>) in amino acid sequences. The inverted arrangement of C<sub>R</sub> and C<sub>P</sub> can only be found among some yeast, bacterial, and filamentous fungal deduced Prxs. The most surprising characteristic of An.PrxA is its extraordinary ability to resist inactivation by extremely high concentrations of H<sub>2</sub>O<sub>2</sub>, even that approaching 600 mM. By screening the H<sub>2</sub>O<sub>2</sub>-inactivation effects on the components of Prx systems, including Trx, Trx reductase (TrxR), and Prx, we ultimately determined that it is the robust filamentous fungal TrxR rather than Trx and Prx that is responsible for the extreme H<sub>2</sub>O<sub>2</sub> tolerence of the An.PrxA system. This is the first investigation on the effect of the electron donor partner in the H<sub>2</sub>O<sub>2</sub> tolerability of the Prx system.
Chemical Vapor Deposition Growth of Graphene Domains Across the Cu Grain Boundaries
Yang Wang,Yu Cheng,Yunlu Wang,Shuai Zhang,Chen Xu,Xuewei Zhang,Miao Wang,Yang Xia,Qunyang Li,Pei Zhao,Hongtao Wang 성균관대학교(자연과학캠퍼스) 성균나노과학기술원 2018 NANO Vol.13 No.08
Many aspects in the chemical vapor deposition (CVD) growth of graphene remain unclear such as its behavior near the catalyst grain boundaries. Here we investigate the CVD growth mechanism of graphene across the Cu grain boundaries using unidirectional aligned graphene domains, which simplifies the analysis of both graphene and Cu to a large extent. We found that for a graphene domain grown across the Cu grain boundary, the domain orientation is determined by the Cu grain where the domain nucleation center is located, and the Cu grain boundary will not change the growth behavior for this graphene domain. This growth mechanism is consistent with the Custep-attached nucleation and edge-attachment-limited growth mechanism for H-terminated graphene domains and will provide more guidance for the synthesis of high-quality graphene with less domain boundaries.