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Long noncoding RNA lnc_217 regulates hepatic lipid metabolism by modulating lipogenesis and fatty acid oxidation
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作者 Xiaoqing Yuan Yawei Liu +7 位作者 Xule Yang Yun Huang Xuan Shen Hui Liang hongwen zhou Qian Wang Xu Zhang John Zhong Li 《The Journal of Biomedical Research》 CAS CSCD 2023年第6期448-459,共12页
Nonalcoholic fatty liver disease (NAFLD) is considered a major health epidemic with an estimated 32.4% worldwide prevalence. No drugs have yet been approved and therapeutic nodes remain a major unmet need. Long noncod... Nonalcoholic fatty liver disease (NAFLD) is considered a major health epidemic with an estimated 32.4% worldwide prevalence. No drugs have yet been approved and therapeutic nodes remain a major unmet need. Long noncoding RNAs are emerging as an important class of novel regulators influencing multiple biological processes and the pathogenesis of NAFLD. Herein, we described a novel long noncoding RNA, lnc_217, which was liver enriched and upregulated in high-fat diet-fed mice, and a genetic animal model of NAFLD. We found that liver specific knockdown of lnc_217 was resistant to high-fat diet-induced hepatic lipid accumulation and decreased serum lipid in mice. Mechanistically, we demonstrated that knockdown of lnc_217 not only decreased de novo lipogenesis by inhibiting sterol regulatory element binding protein-1c cleavage but also increased fatty acid β- oxidation through activation of peroxisome proliferator-activated receptor α and carnitine palmitoyltransferase-1α. Taken together, we conclude that lnc_217 may be a novel regulator of hepatic lipid metabolism and a potential therapeutic target for the treatment of hepatic steatosis and NAFLD-related metabolic disorders. 展开更多
关键词 NAFLD lncRNA de novo synthesis β-oxidation
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罕见病领域研究现状与趋势分析 被引量:10
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作者 贺彩红 蒋琬姿 +3 位作者 张丽雯 阮梅花 周红文 于建荣 《遗传》 CAS CSCD 北大核心 2021年第6期531-544,I0002,共15页
罕见病是指发病率极低的疾病。目前全球约有8000多种罕见病。罕见病的有效防治是建设“健康中国”的重要组成部分。本文分析了全球罕见病领域研究态势及药物研发概况。结果表明,受政策和技术推动,罕见病领域研究呈快速增长趋势;研究热... 罕见病是指发病率极低的疾病。目前全球约有8000多种罕见病。罕见病的有效防治是建设“健康中国”的重要组成部分。本文分析了全球罕见病领域研究态势及药物研发概况。结果表明,受政策和技术推动,罕见病领域研究呈快速增长趋势;研究热点主要包括罕见病突变基因的鉴定与治疗;技术开发重点主要包括罕见病药物研发、基因治疗病毒载体开发、罕见病诊断与管理系统构建;以肌萎缩性侧索硬化和多系统萎缩为代表的神经系统罕见病及以镰状细胞病为代表的血液系统罕见病是重要的研究对象;药物研发方面,截至2020年12月28日,已有880个药物上市,还有大量药物处于临床前阶段。往往一项罕见病技术和药物的开发可推广至多种疾病甚至常见病的治疗。随着政策支持和基因编辑等新兴技术的发展,将有越来越多的罕见病可以实现早诊断、早干预甚至被治愈,患者生活质量有望得到提升。 展开更多
关键词 罕见病 研究现状 药物研发
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一例葡萄糖激酶基因突变致低血糖症的诊疗及家系遗传分析 被引量:1
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作者 李璐阳 刘孙强 +3 位作者 施云 赵成程 周红文 郑旭琴 《遗传》 CAS CSCD 北大核心 2022年第9期810-818,共9页
先天性高胰岛素血症(congenital hyperinsulinism, CHI)是由于胰腺β细胞分泌胰岛素失调引起持续性、反复性低血糖发生的病症,其中葡萄糖激酶(glucokinase, GCK)单个等位基因激活突变所致的CHI为最罕见类型。本文收集一例不明原因低血... 先天性高胰岛素血症(congenital hyperinsulinism, CHI)是由于胰腺β细胞分泌胰岛素失调引起持续性、反复性低血糖发生的病症,其中葡萄糖激酶(glucokinase, GCK)单个等位基因激活突变所致的CHI为最罕见类型。本文收集一例不明原因低血糖症的临床资料,该患者无明显临床症状,在GCK基因3号外显子上检测到1个杂合错义突变(c.295T>C:p.W99R)。3代家系验证发现其儿子、女儿均可见该变异,血糖水平检测偏低,其他人则表现正常。通过总结分析该例病例特点及其家系遗传规律,对于临床上难以明确病因的低血糖症,建议考虑单基因突变致先天性高胰岛素血症致低血糖的可能。该病例也为该疾病后续的遗传学研究提供新的临床资料。 展开更多
关键词 葡萄糖激酶 杂合突变 先天性高胰岛素血症 高胰岛素血症性低血糖症
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一例PYGM基因复合杂合突变导致糖原累积症Ⅴ型的诊断和基因检测分析 被引量:1
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作者 蒋琬姿 徐昳文 +4 位作者 王依文 朱肖诚 龚颖芸 周红文 付真真 《遗传》 CAS CSCD 北大核心 2022年第11期1063-1071,共9页
糖原累积症Ⅴ型是一种由肌糖原磷酸化酶(muscle glycogen phosphorylase,PYGM)缺陷引起的常染色体隐性遗传疾病,其临床特征为运动不耐受、再振作现象和血清肌酸激酶水平增高。本文报道了1例中国糖原累积症Ⅴ型年轻男性患者,运动后双下... 糖原累积症Ⅴ型是一种由肌糖原磷酸化酶(muscle glycogen phosphorylase,PYGM)缺陷引起的常染色体隐性遗传疾病,其临床特征为运动不耐受、再振作现象和血清肌酸激酶水平增高。本文报道了1例中国糖原累积症Ⅴ型年轻男性患者,运动后双下肢无力、血肌酸激酶升高、肌肉磁共振可见下肢近端后群肌轻度脂肪浸润,基因检测结果显示先证者具有复合杂合型PYGM致病突变,分别为来自母亲的c.308T>C (p.L103P)变异和来自父亲的c.260_261delCT (p.S87Ffs*23)变异,其中前者为新发突变。本研究丰富了PYGM致病基因突变谱,有助于提高临床医生对糖原累积症Ⅴ型的认识,并为该疾病的进一步遗传学研究提供参考。 展开更多
关键词 糖原累积症Ⅴ型 McArdle病 PYGM 罕见病
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Psychological status and diabetes-related distress of Chinese type 1 diabetes patients in Jiangsu province, China 被引量:9
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作者 Lulu Kong Yun Cai +8 位作者 Gang Mei Rong Gu Xiaojiao Zhang Yao Qin Ya Cai Yan Li hongwen zhou Mei Zhang Tao Yang 《The Journal of Biomedical Research》 CAS 2013年第5期380-385,共6页
We sought to assess the psychological status and diabetes-related distress of Chinese type 1 diabetes patients in Jiangsu province, China. According to the World Health Organization criteria, 42 patients with type 1 d... We sought to assess the psychological status and diabetes-related distress of Chinese type 1 diabetes patients in Jiangsu province, China. According to the World Health Organization criteria, 42 patients with type 1 diabetes were enrolled in the study and assessed with the Self-Rating Anxiety Scale (SAS), Self-Rating Depression Scale (SDS) and Diabetes Distress Scale (DDS). All data were tabulated and statistical analyses were performed. The study summarized cases of 42 patients with type 1 diabetes, including 17 males and 25 females with a mean age of 23- 12 years and a mean duration of diabetes of 7_ 6 years. Compared to the Chinese normative data, the SAS standard score was significantly higher, whereas SDS standard score had no statistical significance. The SAS standard score was most highly correlated with diabetes duration (y = 0.547, P = 0.011). Additionally, 19.5% of the patients had moderate or even severe diabetes-related distress and 21.4% had moderate or even severe emo- tional burden while 26.2% had regimen-related distress. Multiple stepwise regression analysis showed that the mean correlation between DDS and the four domains was high, particularly the emotional burden domain (esti- mated D = 0.363, P 〈 0.001) and regimen-related distress domain (estimated 13 = 0.356, P 〈 0.001). The correlation between SAS and DDS was positive (estimated 13 = 0.039, P = 0.027). In conclusion, the results showed the im- portance of psychological aspects in Chinese individuals with type 1 diabetes. Screening and treatment of psycho- logical aspects may result in better adherence and increased quality of life for patients with diabetes. 展开更多
关键词 type 1 diabetes ANXIETY depression diabetes-related distress
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Integrated DNA-based/biochemical screening for early diagnosis of multiple endocrine neoplasia type 2A (MEN2A) 被引量:3
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作者 Qin Cui Wen Wang +7 位作者 Zhenzhen Fu Xin Shao Zhihong Zhang Mei Zhang Xianxia Ju Kunlin Wang Jiawei Chen hongwen zhou 《The Journal of Biomedical Research》 CAS 2013年第2期145-150,共6页
Multiple endocrine neoplasia type 2A (MEN2A), a subtype of MEN2, is characterized by medullary thyroid cancer, pheochromocytoma, and primary hyperparathyroidism. A Han Chinese pedigree with MEN2A was investigated fo... Multiple endocrine neoplasia type 2A (MEN2A), a subtype of MEN2, is characterized by medullary thyroid cancer, pheochromocytoma, and primary hyperparathyroidism. A Han Chinese pedigree with MEN2A was investigated following confirmation of the proband's diagnosis by pathological findings and DNA/biochemical screening. DNA samples from 4 other family members were collected and exon 5, 8, 10, 11, 13, 16 and 18 of the RET proto-oncogene were sequenced and then analyzed. A missense mutation of TGG (Trp) to TGC (Cys) at codon 634 (the classic MEN2A mutation) in exon 11 of the RET gene was detected in 3 family members, including the proband. Sequencing data were compared with the human gene mutation database. Elevated serum calcitonin level was detected initially; medullary thyroid carcinoma was revealed in the 3 cases and adrenal pheochromocytoma was also found in the proband. Elective operations were successfully performed on the adrenal and thyroid glands because of pheochromocytoma and medullary thyroid carcinoma. Our case study confirms that integrated DNA-based/biochemical screening is crucial for early diagnosis of MEN2A and is helpful in the screening of their relatives. In addition, DNA-based screening may occasionally uncover a previously unknown RET sequence. 展开更多
关键词 MEN-2A RET mutation medullary thyroid carcinoma Chinese RET proto-oncogene Calcitoninscreening DNA-based screening
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Simulation of Irrigation Water Loss Based on VSMB Model
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作者 hongwen zhou Luxin ZHAI +1 位作者 Wenxing LU Dongxu LIU 《Asian Agricultural Research》 2016年第6期80-86,共7页
The low degree of development and utilization as well as the contradiction between supply and demand of water resources in Huangshui River basin are the main restricting factors of the local agricultural development. ... The low degree of development and utilization as well as the contradiction between supply and demand of water resources in Huangshui River basin are the main restricting factors of the local agricultural development. The study on the simulation of irrigation water loss based on the VSMB model has very important significance to strengthening regional water management and improving water resource utilization efficiency. Five groundwater wells were set up to carry out the farmland irrigation water infiltration and the experimental study on groundwater dynamic effect. Two soil moisture monitoring sites were set up in two typical plots of Daxia and Guanting irrigation area at the same time and TDR300 was used to monitor four kinds of deep soil moisture( 10 cm,30 cm,50 cm and 70 cm). On this basis,the VSMB model was used to study the irrigation water loss in the irrigation area of Yellow River valley of Qinghai Province,including soil moisture content,the actual evapotranspiration,infiltration,runoff,groundwater buried depth and so on. The results showed that the water consumption caused by soil evaporation and crop transpiration accounted for 46. 4% and 24. 1% of the total precipitation plus irrigation,respectively,and the leakage accounted for 30. 3% and 60. 6% of the total precipitation plus irrigation,respectively,from March 1,2013 to April 30,and from August 1 to September 30. The actual evaporation of the GT- TR1 and GT- TR2 sites in the whole year of 2013 was 632. 6 mm and 646. 9 mm,respectively,and the leakage accounted for 2. 6% and 1. 2% of the total precipitation plus irrigation,respectively. RMSE of the simulation results of the groundwater depth in Daxia irrigation area during the two periods was 92. 3 mm and 27. 7 mm,respectively. And RMSE of the simulation results of the water content of soil profile in the two monitoring sites of Guanting irrigation area was 2. 04% and 5. 81%,respectively,indicating that the simulation results were reliable. 展开更多
关键词 VSMB model IRRIGATION WATER LOSS SOIL MOISTURE BALANCE IRRIGATION area
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A Novel Planar Waveguide Laser
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作者 Dele Shi Hongyan Xu +3 位作者 Xiujun Huang Kaiming Wang Bingchuan Du hongwen zhou 《Optics and Photonics Journal》 2021年第8期326-331,共6页
<div style="text-align:justify;"> A new planar waveguide laser was demonstrated. The output energy of 400 mW was achieved by a single waveguide laser;the slope efficiency was 61%. The single waveguide ... <div style="text-align:justify;"> A new planar waveguide laser was demonstrated. The output energy of 400 mW was achieved by a single waveguide laser;the slope efficiency was 61%. The single waveguide laser can expand to waveguide laser group and waveguide laser array to produce higher energy. </div> 展开更多
关键词 LASERS SOLID-STATE Laser Amplifiers
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The heterogeneity of islet autoantibodies and the progression of islet failure in type 1 diabetic patients 被引量:5
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作者 Jin Liu Lingling Bian +69 位作者 Li Ji Yang Chen Heng Chen Yong Gu Bingqin Ma Wei Gu Xinyu Xu Yun Shi Jian Wang Dalong Zhu Zilin Sun Jianhua Ma Hui Jin Xing Shi Heng Miao Bing Xin Yan Zhu Zhenwen Zhang Ruifang Bu Lan Xu Guangde Shi Wei Tang Wei Li Dongmei zhou Jun Liang Xingbo Cheng Bimin Shi Jixiang Dong Ji Hu Chen Fang Shao Zhong Weinan Yu Weiping Lu Chenguang Wu Li Qian Jiancheng Yu Jialin Gao Xiaoqiang Fei Qingqing Zhang Xueqin Wang Shiwei Cui Jinluo Cheng Ning Xu Guofeng Wang Guoqing Han Chunrong Xu Yun Xie Minmin An Wei Zhang Zhixiao Wang Yun Cai Qi Fu Yu Fu Shuai Zheng Fan Yang Qingfang Hu Hao Dai Yu Jin Zheng Zhang Kuanfeng Xu Yifan Li Jie Shen hongwen zhou Wei He Xuqin Zheng Xiao Han Liping Yu Jinxiong She Mei Zhang Tao Yang 《Science China(Life Sciences)》 SCIE CAS CSCD 2016年第9期930-939,938-939+932-937,共10页
Type 1 diabetes mellitus is heterogeneous in many facets. The patients suffered from type 1 diabetes present several levels of islet function as well as variable number and type of islet-specific autoantibodies. This ... Type 1 diabetes mellitus is heterogeneous in many facets. The patients suffered from type 1 diabetes present several levels of islet function as well as variable number and type of islet-specific autoantibodies. This study was to investigate prevalence and heterogeneity of the islet autoantibodies and clinical phenotypes of type 1 diabetes mellitus; and also discussed the process of islet failure and its risk factors in Chinese type 1 diabetic patients. A total of 1,291 type 1 diabetic patients were enrolled in this study. Demographic information was collected. Laboratory tests including mixed-meal tolerance test, human leukocyte antigen alleles, hemoglobin A1 c, lipids, thyroid function and islet autoantibodies were conducted. The frequency of islet-specific autoantibody in newly diagnosed T1 DM patients(duration shorter than half year) was 73% in East China. According to binary logistic regressions, autoantibody positivity, longer duration and lower Body Mass Index were the risk factors of islet failure. As the disease developed, autoantibodies against glutamic acid decarboxylase declined as well as the other two autoantibodies against zinc transporter 8 and islet antigen 2. The decrease of autoantibodies was positively correlated with aggressive beta cell destruction. Autoantibodies can facilitate the identification of classic T1 DM from other subtypes and predict the progression of islet failure. As there were obvious heterogeneity in autoantibodies and clinical manifestation in different phenotypes of the disease, we should take more factors into consideration when identifying type 1 diabetes mellitus. 展开更多
关键词 自身抗体 糖尿病 异质性 胰岛 患者 衰竭 Logistic回归 糖化血红蛋白
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