Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism

Xiao Zheng,Shao-Gang Ma,Man-Li Guo,Ya-Li Qiu,Liu-Xue Yang 연세대학교의과대학 2017 Yonsei medical journal Vol.58 No.4

The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism(CH). This study reports the pedigree with goitrous congenital hypothyroidism (GCH) due to the coexistence of heterozygousmutations in the DUOX2 and DUOXA2 genes. The two sisters with GCH were diagnosed with CH at neonatal screeningand were enrolled in this study. The DUOX2, DUOXA2, and thyroid peroxidase (TPO) genes were considered for genetic defects screening. Family members of the patients and normal controls were also enrolled and evaluated. The two girls harbored compound heterozygous mutations, including a new mutation of c.2654G>T (p.R885L) in the maternal DUOX2 allele and c.738C>G (p.Y246X) in the paternal DUOXA2 allele, that has been previously reported. The germline mutations from the families were consistent with an autosomal recessive inheritance pattern. No mutations in the TPO gene and the controls were observed.

Effect of Minor Sc Addition on the Microstructure Evolution of Al–Cu–Li–Mg Alloy During Homogenization with Different Cooling Modes

Ya Tang,Daihong Xiao,Lanping Huang,Renxuan You,Xinyue Zhao,Nan Lin,Yunzhu Ma,Wensheng Liu 대한금속·재료학회 2022 METALS AND MATERIALS International Vol.28 No.10

The microstructure evolution and mechanical properties of Al–3.92Cu–1.10Li–0.68Mg–0.32Ag–0.23Mn–0.35Zn–0.11Zrand Al–3.92Cu–1.12Li–0.76Mg–0.29Ag–0.24Mn–0.24Zn–0.12Zr–0.083Sc (wt%) alloys during homogenization with differentcooling modes were comprehensively studied. It was clearly revealed that the minor Sc addition refined the grainsof as-cast Al–Cu–Li–Mg alloys through the formation of primary Al3(Sc, Zr) phases during the solidification process, andinduced Sc enrichment in the θ (Al2Cu) eutectic. After the homogenization treatment, the majority of coarse nonequilibriumeutectic phases at the grain boundaries dissolved into the α-Al matrix, leading to the relatively uniform distribution ofeach element. Sc-added alloy after homogenization treatments possessed more superior strength and ductility than Sc-freealloy. Compared to the furnace cooling mode, the air cooling mode could inhibit the precipitation of micron-sized coarse T1(Al2CuLi) phase and improve the mechanical properties of the alloys. After homogenization, the continuous Al2Cuphase inthe as-cast Sc-added alloy dissolved and transformed to an array of W-(Al, Cu, Sc) ternary phase, which was identified asAl6Cu6Scwith the body-centered tetragonal structure. The appearance of spherical Al6Cu6Scparticle could not damage themechanical properties of Al–Cu–Li–Mg alloys after the homogenization treatment. The tensile strength, yield strength andelongation of Sc-added alloy after the homogenization by air cooling were 390 MPa, 265 MPa and 10.8%, respectively. Theinvestigation of Al6Cu6Scphase offered a potential avenue to produce high-quality Sc-added 2xxx series alloys.

Research on Innovative protection and Cultural IP Development of “Intangible Cultural Heritage” in Shandong Province under the background of “Internet Plus”

Xuesen Ma,Cong Lin,Wang Xiao Ya,Pei Pei,Fan Shou Zhong 한국글로벌무역학회 2022 한국글로벌무역학회 학술대회자료집 Vol.2022 No.-

Recyclable Fe3O4/Au Nanocomopsites for Oxidation Degradation of Methylene Blue in Near Neutral Solution

Yan Xing,Xiao-Hui Bai,Ming-Li Peng,Xiang-Rong Ma,Norbert Buske,Ya-Li Cui 성균관대학교(자연과학캠퍼스) 성균나노과학기술원 2019 NANO Vol.14 No.10

Fe3O4/Au nanocomopsites (Fe3O4/Au NPs) with much improved catalytic activity were successfully fabricated through a simple seed growth method in aqueous solution. The petal-like structure, high saturation magnetization, the negatively charged sodium citrate-stabilized Fe3O4/Au NPs was characterized by transmission electron microscopy (TEM), X-ray diffractometer (XRD), dynamic light scattering (DLS) and vibrating sample magnetometry (VSM). The activated-H2O2 ability of Fe3O4/Au NPs was evaluated by using methylene blue (MB) as a cationic phenothiazines dye to be degraded in near neutral solution. The results showed Fe3O4/Au NPs removed over 95% MB from an aqueous solution within 60 min under the optimum conditions. The apparent rate constant of Fe3O4/Au NPs was 10.8 x 10 -2 min -1 which was 43.2 and 8.3 times higher than pure Fe3O4 (2.5 x 10 -3 min -1) and Au (1.3 x 10 -2 min -1) NPs. The enhanced catalytic activity and increased oxidation rate constant probably owing to the synergistic effect between Fe3O4 and Au NPs to activate H2O2 generate a large amount of strong oxidizing species, such as ·OH. In addition, nanocrystalline structure of Fe3O4/Au NPs was also very important to the peroxidase-like effect, especially the interaction interface between Fe3O4 and Au NPs. Moreover, Fe3O4/Au NPs was stable and could be regenerated and reused for at least five cycles.

Characterization and Expression Profile of CMTM3/CKLFSF3

( Ji Zhong ),( Yu Wang ),( Xiao Yan Qiu ),( Xiao Ning Mo ),( Ya Nan Liu ),( Ting Li ),( Quan Sheng Song ),( Da Long Ma ),( Wen Ling Han ) 생화학분자생물학회 2006 BMB Reports Vol.39 No.5

Identifying Differentially Expressed Genes and Small Molecule Drugs for Prostate Cancer by a Bioinformatics Strategy

Li, Jian,Xu, Ya-Hong,Lu, Yi,Ma, Xiao-Ping,Chen, Ping,Luo, Shun-Wen,Jia, Zhi-Gang,Liu, Yang,Guo, Yu Asian Pacific Journal of Cancer Prevention 2013 Asian Pacific journal of cancer prevention Vol.14 No.9

Purpose: Prostate cancer caused by the abnormal disorderly growth of prostatic acinar cells is the most prevalent cancer of men in western countries. We aimed to screen out differentially expressed genes (DEGs) and explore small molecule drugs for prostate cancer. Materials and Methods: The GSE3824 gene expression profile of prostate cancer was downloaded from Gene Expression Omnibus database which including 21 normal samples and 18 prostate cancer cells. The DEGs were identified by Limma package in R language and gene ontology and pathway enrichment analyses were performed. In addition, potential regulatory microRNAs and the target sites of the transcription factors were screened out based on the molecular signature database. In addition, the DEGs were mapped to the connectivity map database to identify potential small molecule drugs. Results: A total of 6,588 genes were filtered as DEGs between normal and prostate cancer samples. Examples such as ITGB6, ITGB3, ITGAV and ITGA2 may induce prostate cancer through actions on the focal adhesion pathway. Furthermore, the transcription factor, SP1, and its target genes ARHGAP26 and USF1 were identified. The most significant microRNA, MIR-506, was screened and found to regulate genes including ITGB1 and ITGB3. Additionally, small molecules MS-275, 8-azaguanine and pyrvinium were discovered to have the potential to repair the disordered metabolic pathways, abd furthermore to remedy prostate cancer. Conclusions: The results of our analysis bear on the mechanism of prostate cancer and allow screening for small molecular drugs for this cancer. The findings have the potential for future use in the clinic for treatment of prostate cancer.

Adherence to Cancer Prevention Guidelines and Endometrial Cancer Risk: Evidence from a Systematic Review and Dose-Response Meta-analysis of Prospective Studies

Hui Sun,Qing Chang,Ya-Shu Liu,Yu-Ting Jiang,Ting-Ting Gong,Xiao-Xin Ma,Yu-Hong Zhao,Qi-Jun Wu 대한암학회 2021 Cancer Research and Treatment Vol.53 No.1

Purpose The evidence of adherence to cancer prevention guidelines and endometrial cancer (EC) risk has been limited and controversial. This study summarizes and quantifies the relationship between adherence to cancer prevention guidelines and EC risk. Materials and Methods The online databases PubMed, Web of Science, and EMBASE were searched for relevant publications up to June 2, 2020. This study had been registered at PROSPERO. The registration number is CRD42020149966. Study quality evaluation was performed based on the Newcastle-Ottawa Scale. The I2 statistic was used to estimate heterogeneity among studies. Egger’s and Begg’s tests assessed potential publication bias. Summary hazard ratios (HRs) and 95% confi dence intervals (CIs) for the relationship between adherence to cancer prevention guidelines score was assigned to participants by summarizing individual scores for each lifestyle-related factor. The scores ranged from least healthy (0) to most healthy (20) and the EC risk was calculated using a random-effects model. Results Five prospective studies (four cohort studies and one case‑cohort study) consisted of 4,470 EC cases, where 597,047 participants were included. Four studies had a low bias risk and one study had a high bias risk. Summary EC HR for the highest vs. lowest score of adherence to cancer prevention guidelines was 0.54 (95% CI, 0.40 to 0.73) and had a high heterogeneity (I2=86.1%). For the dose-response analysis, an increment of 1 significantly reduced the risk of EC by 6%. No signifi cant publication bias was detected. Conclusion This study suggested that adherence to cancer prevention guidelines was negatively related to EC risk.

Cryptotanshinone and wogonin up-regulate eNOS in vascular endothelial cells via ERa and down-regulate iNOS in LPS stimulated vascular smooth muscle cells via ERb

Barnabas Oche,Lu Chen,Ya-ke Ma,Yue Yang,Chun-xiao Li,Xiao Geng,Li-zhen Qiu,Xiu-mei Gao,Hong Wang 대한약학회 2016 Archives of Pharmacal Research Vol.39 No.2

Phytoestrogens were widely used as natural alternatives to estrogen for treating cardiovascular diseases. They have been reported to have cardioprotective and antiinflammatory response, but the mechanisms remain unclear. In this study, we found cryptotanshinone and wogonin exhibited phytoestrogenic property in an estrogen- responsive reporter assay. In EA.hy926 cells, treatment of cryptotanshinone and wogonin led to significant increase in NO production levels, which were inhibited by co-incubation of estrogen receptor (ER)a antagonist methyl-piperidino-pyrazole (MPP). The expression of endothelial NO synthase (eNOS) and ERa were up-regulated with the same treatment, indicating they stimulate NO and eNOS expression via ERa-dependent pathway in endothelial cells. While in lipopolysaccharide activated vascular smooth muscle cell line A7r5, cryptotanshinone and wogonin exerted anti-inflammatory effects by inhibiting NO and inducible NO synthase expression via ERbdependent pathway. The reduction of NO synthesis was not affected by MPP, and was abrogated by ERb antagonist R,R-tetrahydrochrysene. Our findings provide the potential molecular mechanism of cryptotanshinone and wogonin as phytoestrogens for their cardioprotective effects, which exerted regulatory effects on NO synthesis through differential regulation of estrogen receptors. It can be employed as a basis for evaluating the beneficial effects of phytoestrogens in the treatment of patients at risk of cardiovascular disease.

JCAD deficiency attenuates activation of hepatic stellate cells and cholestatic fibrosis

Li Xie,Hui Chen,Li Zhang,Yue Ma,Yuan Zhou,Yong-Yu Yang,Chang Liu,Yu-Li Wang,Ya-Jun Yan,Jia Ding,Xiao Teng,Qiang Yang,Xiu-Ping Liu,Jian Wu 대한간학회 2024 Clinical and Molecular Hepatology(대한간학회지) Vol.30 No.2

Background/Aims: Cholestatic liver diseases including primary biliary cholangitis (PBC) are associated with active hepatic fibrogenesis, which ultimately progresses to cirrhosis. Activated hepatic stellate cells (HSCs) are the main fibrogenic effectors in response to cholangiocyte damage. JCAD regulates cell proliferation and malignant transformation in nonalcoholic steatoheaptitis-associated hepatocellular carcinoma (NASH-HCC). However, its participation in cholestatic fibrosis has not been explored yet. Methods: Serial sections of liver tissue of PBC patients were stained with immunofluorescence. Hepatic fibrosis was induced by bile duct ligation (BDL) in wild-type (WT), global JCAD knockout mice (JCAD-KO) and HSC-specific JCAD knockout mice (HSC-JCAD-KO), and evaluated by histopathology and biochemical tests. In situ-activated HSCs isolated from BDL mice were used to determine effects of JCAD on HSC activation. Results: In consistence with staining of liver sections from PBC patients, immunofluorescent staining revealed that JCAD expression was identified in smooth muscle α-actin (α-SMA)-positive fibroblast-like cells and was significantly up-regulated in WT mice with BDL. JCAD deficiency remarkably ameliorated BDL-induced hepatic injury and fibrosis, as documented by liver hydroxyproline content, when compared to WT mice with BDL. Histopathologically, collagen deposition was dramatically reduced in both JCAD-KO and HSC-JCAD-KO mice compared to WT mice, as visualized by Trichrome staining and semi-quantitative scores. Moreover, JCAD deprivation significantly attenuated in situ HSC activation and reduced expression of fibrotic genes after BDL. Conclusions: JCAD deficiency effectively suppressed hepatic fibrosis induced by BDL in mice, and the underlying mechanisms are largely through suppressed Hippo-YAP signaling activity in HSCs.

Effects of Culture Mechanism of Cinnamomum kanehirae and C. camphora on the Expression of Genes Related to Terpene Biosynthesis in Antrodia cinnamomea

Zhang Zhang,Wang Yi,Yuan Xiao-Long,Luo Ya-Na,Luo Ma-Niya,Zheng Yuan 한국균학회 2022 Mycobiology Vol.50 No.2

The rare edible and medicinal fungus Antrodia cinnamomea has a substantial potential for development. In this study, Illumina HiSeq 2000 was used to sequence its transcriptome. The results were assembled de novo, and 66,589 unigenes with an N50 of 4413 bp were obtained. Compared with public databases, 6,061, 3,257, and 2,807 unigenes were annotated to the Non-Redundant, Gene Ontology, and Kyoto Encyclopedia of Genes and Genomes databases, respectively. The genes related to terpene biosynthesis in the mycelia of A. cinnamomea were analyzed, and acetyl CoA synthase (ACS2 and ACS4), hydroxymethylglutaryl CoA reductase (HMGR), farnesyl transferase (FTase), and squalene synthase (SQS) were found to be upregulated in XZJ (twig of C. camphora) and NZJ (twig of C. kanehirae). Moreover, ACS5 and 2,3-oxidized squalene cyclase (OCS) were highly expressed in NZJ, while heme IX farnesyl transferase (IX-FIT) and ACS3 were significantly expressed in XZJ. The differential expression of ACS1, ACS2, HMGR, IX-FIT, SQS, and OCS was confirmed by real-time quantitative reverse transcription PCR. This study provides a new concept for the additional exploration of the molecular regulatory mechanism of terpenoid biosynthesis and data for the biotechnology of terpenoid production.