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Liru Qiu, Fengjie Yang, Yonghua He, Huiqing Yuan, Jianhua Zhou
《医学前沿(英文)》 2018年 第12卷 第5期 页码 550-558 doi: 10.1007/s11684-017-0567-y
Cystic fibrosis (CF) is a fatal autosomal-recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. CF is characterized by recurrent pulmonary infection with obstructive pulmonary disease. CF is common in the Caucasian population but is rare in the Chinese population. The symptoms of early-stage CF are often untypical and may sometimes manifest as Bartter syndrome (BS)-like hypokalemic alkalosis. Therefore, the ability of doctors to differentiate CF from BS-like hypokalemic alkalosis in Chinese infants is a great challenge in the timely and accurate diagnosis of CF. In China, sporadic CF has not been diagnosed in children younger than three years of age to date. Three infants, who were initially admitted to our hospital over the period of June 2013 to September 2014 with BS-like hypokalemic alkalosis, were diagnosed with CF through exome sequencing and sweat chloride measurement. The compound heterozygous mutations of the CFTR gene were detected in two infants, and a homozygous missense mutation was found in one infant. Among the six identified mutations, two are novel point mutations (c.1526G>C and c.3062C>T) that are possibly pathogenic. The three infants are the youngest Chinese patients to have been diagnosed with sporadic CF at a very early stage. Follow-up examination showed that all of the cases remained symptom-free after early intervention, indicating the potential benefit of very early diagnosis and timely intervention in children with CF. Our results demonstrate the necessity of distinguishing CF from BS in Chinese infants with hypokalemic alkalosis and the significant diagnostic value of powerful exome sequencing for rare genetic diseases. Furthermore, our findings expand the CFTR mutation spectrum associated with CF.
关键词: cystic fibrosis pseudo-Bartter syndrome hypokalemic alkalosis CFTR gene mutations infants diagnosis
Association of gene variants with juvenile amyotrophic lateral sclerosis
《医学前沿(英文)》 doi: 10.1007/s11684-023-1005-y
关键词: TRMT2B amyotrophic lateral sclerosis mitochondrial complex I tRNA methylation reactive oxygen species
Nan Zheng, Ziyuan Song, Yang Liu, Lichen Yin, Jianjun Cheng
《化学科学与工程前沿(英文)》 2017年 第11卷 第4期 页码 521-528 doi: 10.1007/s11705-017-1612-8
关键词: α-helical polypeptide plant gene delivery protoplast intact leaves transfection
A novel aldo-keto reductase gene,
Jinxi HUO, Bing DU, Sifan SUN, Shaozhen HE, Ning ZHAO, Qingchang LIU, Hong ZHAI
《农业科学与工程前沿(英文)》 2018年 第5卷 第2期 页码 206-213 doi: 10.15302/J-FASE-2018225
《医学前沿(英文)》 2022年 第16卷 第4期 页码 627-636 doi: 10.1007/s11684-020-0815-4
关键词: RUNX1 gene mutation acute myeloid leukemia transcriptional repression DNA methylation
Jiajia Hu, Wenbin Shen, Qian Qu, Xiaochun Fei, Ying Miao, Xinyun Huang, Jiajun Liu, Yingli Wu, Biao Li
《医学前沿(英文)》 2019年 第13卷 第6期 页码 646-657 doi: 10.1007/s11684-018-0643-y
关键词: androgen-independent prostate cancer normal epithelial cell-specific 1/kallikrein 10 sodium/iodide symporter radiation therapy proliferation
<i>RR1i> and <i>RR2i> gene deletion affects the immunogenicity of a live attenuated pseudorabies
Shijun YAN,He YAN,Chaolin ZHANG,Tongyan WANG,Qingyuan YANG,Zhe SUN,Yan XIAO,Feifei TAN,Xiangdong LI,Kegong TIAN
《农业科学与工程前沿(英文)》 2016年 第3卷 第1期 页码 81-86 doi: 10.15302/J-FASE-2016088
关键词: pseudorabies virus RR1 and RR2 ribonucleotide reductase vaccine candidate
A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome
《医学前沿(英文)》 2023年 第17卷 第2期 页码 330-338 doi: 10.1007/s11684-022-0933-2
关键词: Clouston syndrome whole exome sequencing GJB6 gene novel variant unique phenotype
《环境科学与工程前沿(英文)》 2021年 第15卷 第5期 doi: 10.1007/s11783-021-1391-9
• OBS inhibited the growth of P. stutzeri and destroyed its structure.
关键词: Sodium perfluorononyloxy-benzenesulfonate Aerobic denitrification Pseudomonas stutzeri Ecotoxicity ROS Persist organic pollutants Toxicity Denitrification Microbiology
抗白粉病基因 <i>Pm40i> 在我国“后 <i>Pm21i> 时代”小麦育种中的重要作用 Perspective
唐圣雯,胡玉亭,钟胜福,罗培高
《工程(英文)》 2018年 第4卷 第4期 页码 500-506 doi: 10.1016/j.eng.2018.06.004
由小麦白粉菌[Blumeria graminis f. sp. tritici(Bgt)] 引起的小麦白粉病是一种重要的小麦叶部病害,对小麦的产量产生很大的影响。20 世纪80 年代,通过簇毛麦(Heuchera villosa)的6VS 染色体与小麦6AL 染色体易位将抗白粉病基因Pm21 转移到普通小麦中。最近,在一些地方发现了对Pm21 有毒的Bgt,虽然这些菌株的病理学特性还有待研究,但这一现象提醒小麦育种者应注意应用Pm21 的风险。来源于普通小麦与中间偃麦草(Thinopyrum intermedium)杂种后代的抗白粉病基因Pm40,被定位在小麦7BS 染色体上,对Bgt 具有广谱和持久的抗性。通过细胞学研究,并未在Pm40 的载体品种中发现大片段外缘染色体。过去几年的研究发现,Pm40 的载体品种具有优良的农艺性状。因此,我们相信在未来的育种工程中,Pm40 将会在Pm21 的抗性被克服之后起巨大的作用。另外,Pm21 和Pm40 都来源于外缘物种,这暗示着外源基因的抗性可能比小麦本身的基因更为持久和有效。
Weicheng LIU, Xiaoli WU, Xuelian BAI, Hong ZHANG, Dan DONG, Taotao ZHANG, Huiling WU
《农业科学与工程前沿(英文)》 2018年 第5卷 第2期 页码 262-270 doi: 10.15302/J-FASE-2017166
关键词: antifungal activity biosynthetic gene cluster Botrytis cinerea fusaricidin Paenibacillus polymyxa
a novel K+ transporter gene in cotton
Yiru WANG, Juan XU, Mingcai ZHANG, Xiaoli TIAN, Zhaohu LI
《农业科学与工程前沿(英文)》 2018年 第5卷 第2期 页码 226-235 doi: 10.15302/J-FASE-2017170
A PLATFORM TO AID SELECT THE OPTIMAL TOOL TO DESIGN GUIDE RNAS
《农业科学与工程前沿(英文)》 页码 296-305 doi: 10.15302/J-FASE-2022479
● Summaries on sgRNAs design.
《医学前沿(英文)》 2021年 第15卷 第3期 页码 438-447 doi: 10.1007/s11684-020-0826-1
关键词: sporadic thoracic aortic dissection exome sequencing gene COL3A1 case–control study extracellular matrix
Identification of an E3 ligase-encoding gene
Yanfei Zhang, Xinchun Zhao, Yongchun Zhou, Min Wang, Guangbiao Zhou
《医学前沿(英文)》 2020年 第14卷 第3期 页码 318-326 doi: 10.1007/s11684-019-0708-6
关键词: RFWD3 NSCLC prognosis tobacco smoke
标题 作者 时间 类型 操作
Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis
Liru Qiu, Fengjie Yang, Yonghua He, Huiqing Yuan, Jianhua Zhou
期刊论文
A novel aldo-keto reductase gene,
Jinxi HUO, Bing DU, Sifan SUN, Shaozhen HE, Ning ZHAO, Qingchang LIU, Hong ZHAI
期刊论文
Distinct gene expression pattern of mutations coordinated by target repression and promoter hypermethylation
期刊论文
<i>NES1i>/<i>KLK10i> and <i>hNISi> gene therapy enhanced iodine-131 internal radiation in PC3 proliferation
Jiajia Hu, Wenbin Shen, Qian Qu, Xiaochun Fei, Ying Miao, Xinyun Huang, Jiajun Liu, Yingli Wu, Biao Li
期刊论文
<i>RR1i> and <i>RR2i> gene deletion affects the immunogenicity of a live attenuated pseudorabies
Shijun YAN,He YAN,Chaolin ZHANG,Tongyan WANG,Qingyuan YANG,Zhe SUN,Yan XIAO,Feifei TAN,Xiangdong LI,Kegong TIAN
期刊论文
A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome
期刊论文
effect of sodium perfluorononyloxy-benzenesulfonate on in aerobic denitrification, cell structure and gene
期刊论文
Fusaricidins in
Weicheng LIU, Xiaoli WU, Xuelian BAI, Hong ZHANG, Dan DONG, Taotao ZHANG, Huiling WU
期刊论文
a novel K+ transporter gene in cotton
Yiru WANG, Juan XU, Mingcai ZHANG, Xiaoli TIAN, Zhaohu LI
期刊论文
Identification of variants associated with sporadic thoracic aortic dissection: a case--control study
期刊论文