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Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract
Xiu-Feng Huang,Lue Xiang,Wan Cheng,Fei-Fei Cheng,Kai-Wen He,Bo-Wen Zhang,Si-Si Zheng,Ru-Yi Han,Yi-Han Zheng,Xiao-Tao Xu,Huan-Yun Yu,Wenjuan Zhuang,Yuk Fai Leung,Zi-Bing Jin 생화학분자생물학회 2018 Experimental and molecular medicine Vol.50 No.-
Ocular coloboma is a developmental structural defect of the eye that often occurs as complex ocular anomalies. However, its genetic etiology remains largely unexplored. Here we report the identification of mutation (c.331C>T, p. R111C) in the IPO13 gene in a consanguineous family with ocular coloboma, microphthalmia, and cataract by a combination of whole-exome sequencing and homozygosity mapping. IPO13 encodes an importin-B family protein and has been proven to be associated with the pathogenesis of coloboma and microphthalmia. We found that Ipo13 was expressed in the cornea, sclera, lens, and retina in mice. Additionally, the mRNA expression level of Ipo13 decreased significantly in the patient compared with its expression in a healthy individual. Morpholinooligonucleotide- induced knockdown of ipo13 in zebrafish caused dose-dependent microphthalmia and coloboma, which is highly similar to the ocular phenotypes in the patient. Moreover, both visual motor response and optokinetic response were impaired severely. Notably, these ocular phenotypes in ipo13-deficient zebrafish could be rescued remarkably by full-length ipo13 mRNA, suggesting that the phenotypes observed in zebrafish were due to insufficient ipo13 function. Altogether, our findings demonstrate, for the first time, a new role of IPO13 in eye morphogenesis and that loss of function of IPO13 could lead to ocular coloboma, microphthalmia, and cataract in humans and zebrafish.
Associations Between Infiltrating Lymphocyte Subsets and Hepatocellular Carcinoma
Guo, Cun-Li,Yang, Hai-Chao,Yang, Xiu-Hua,Cheng, Wen,Dong, Tian-Xiu,Zhu, Wen-Jing,Xu, Zheng,Zhao, Liang Asian Pacific Journal of Cancer Prevention 2012 Asian Pacific journal of cancer prevention Vol.13 No.11
Aims: We aimed to analyze the phenotype of tumor-infiltrating lymphocytes (TILs) and non-tumor infiltrating lymphocytes (NILs) in HCC and non-tumor tissues, and evaluate relationships between changes in these cells and the prognosis of HCC. Methods: Lymphocytes were isolated from HCC and corresponding non-tumor tissues and tested by flow cytometry. For comparison, clinical parameters were analyzed. Results: Compared with the non-tumor tissue, tumor tissue had a lower intensity of NK, NKT andCD8+T cell infiltration. TILs had higher intensity of CD4+CD25+Foxp3+regulatory T cell (Treg cells) infiltration compared with that in NILs. The prevalence of Treg cells was associated with fewer CD8 + T lymphocytes in the HCC immune microenvironment. The frequencies of NK cells and CD8+T cells in TILs of HCC patients with metastasis less than 12 months were lower than those without metastasis. However, the frequency of Treg cells was higher than those without metastasis. Conclusion: These results suggest that the frequencies of CD8+T, NK and NKT cells as well as Treg cells in the tumor tissue of HCC are significantly associated with patient survival, and could be applied as predictive indicators for HCC prognosis.
Jing-Jie Zhang,Pan Qi,Jie Li,Xiu-Cheng Zheng,Pu Liu,Xin-Xin Guan,Guang-Ping Zheng 한국공업화학회 2018 Journal of Industrial and Engineering Chemistry Vol.61 No.-
A series of Fe2O3 and TiO2 co-doped graphene aerogel (Fe2O3–TiO2–GA) nanocomposites with a unique 3D architecture are assembled by a one-pot hydrothermal method combined with freeze-drying. The one with 30 wt% Fe2O3 exhibits the highest adsorptivity (95.0%) and the another with 25 wt% Fe2O3 displays the highest total efficiency (97.7%) including adsorption and visible light-driven photocatalytic degradation for rhodamine B dyes (20.0 mg L−1, 25 mL) within 1 h over 5.0 mg of the nanocomposites. The materials also display satisfactory cyclic stability and the removal efficiency can be 81.8% even after four runs. Additionally, a related photocatalytic mechanism is proposed.
Development of a position sensitive CsI(Tl) crystal array
Shi, Guo-Zhu,Chen, Ruo-Fu,Chen, Kun,Shen, Ai-Hua,Zhang, Xiu-Ling,Chen, Jin-Da,Du, Cheng-Ming,Hu, Zheng-Guo,Fan, Guang-Wei Korean Nuclear Society 2020 Nuclear Engineering and Technology Vol.52 No.4
A position-sensitive CsI(Tl) crystal array coupled with the multi-anode position sensitive photomultiplier tube (PS-PMT), Hamamatsu H8500C, has been developed at the Institute of Modern Physics. An effective, fast, and economical readout circuit based on discretized positioning circuit (DPC) bridge was designed for the 64-channel multi-anode flat panel PSPMT. The horizontal and vertical position resolutions are 0.58 mm and 0.63 mm respectively for the 1.0 × 1.0 × 5.0 ㎣ CsI(Tl) array, and the horizontal and vertical position resolutions are 0.86 mm and 0.80 mm respectively for the 2.0 × 2.0 × 10.0 ㎣ CsI(Tl) array. These results show that the CsI(Tl) crystal array with low cost could be applied in the fields of medical imaging and high-resolution gamma camera.