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Are the SNPs of nkx2-1 associated with papillary thyroid carcinoma in the Han population of Northern China？

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Frontiers of Medicine 2014年第1期8卷 113-117页

作者： Lizhe Ai Yaqin Yu Xiaoli Liu Chong Wang Jieping Shi Hui Sun Qiong Yu Department of Epidemiology and Biostatistics School of Public Health Jilin University Changchun 130021 China Jilin Provincial Key Laboratory of Surgical Translational Medicine Department of Thyroid and Parathyroid Surgery China-Japan Union Hospital Jilin University Changchun 130033 China

Papillary thyroid carcinoma （PTC） is one of the most common tumors of the thyroid gland. The common risk factors of PTC include ionizing radiation, positive family history, and thyroid nodular disease. PTC was identified in Europeans by conducting a genome-wide association study, and a strong association signal with PTC was observed in rs944289 and nkx2-1 （located at the 14q13.3 locus）, which was probably the genetic risk factor of PTC. This study aimed to examine the association of this gene with PTC in Chinese. A total of 354 patients with PTC and 360 healthy control subjects from the Han population of Northern China were recruited in the study. These individuals were genotyped to determine rs12589672, rs12894724, rs2076751, and rs944289. The association of rs944289 with PTC was obtained （C vs. T, P= 0.027, OR= 1.264, 95% CI = 1.026-1.557; and C/C-C/T vs. T/T, P= 0.034, OR= 1.474, 95% CI = 1.028-2.112）. Conducting a subgroup analysis, we found a marginal difference in the allele frequency distribution of rs944289 （adjusted P = 0.062） between the patients with PTC and multi-nodular goiter and the control subjects. We also observed an interaction （P= 0.029; OR = 2.578, 95% CI=1.104-6.023） between rs944289 and diabetes in patients with PTC. In conclusion, rs944289 was associated with an increased risk of PTC in the Han population of Northern China, but no clear association was observed in either of the tag single nucleotide polymorphisms of nkx2-1.

关键词： nkx2-1 papillary thyroid carcinoma the Han population of Northern China association

The Study of nkx2-1 Gene on Mouse Neural Tube Defects through Shh Signal Pathway

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The Study of Nkx2-1 Gene on Mouse Neural Tube Defects throug...

先天性巨结肠患儿结肠肌间神经丛内神经节细胞中nkx2-1的表达

第六届泛环渤海生物化学与分子生物学会学术交流会

作者： JIA San-san YANG Qiao-Yan SUO Jin-rong LI Jian-ting LIU Zhi-zhen XIE Jun Department of Biochemistry and Molecular Biology

The process of neural tube formation plays a critical role in the development of the central nervous system during early embryonic *** closure of neural tube is controlled and regulated by the genetic and environmental ***,the mechanism of neural tube defects(NTDs) is still *** order to study which genes have involved the development of NTDs,we investigated the gene expression profiles of this stage by RNA-seq *** this study,the pregnant mouses were lavaged with all trans retinoic acid or oil on E7.5 *** the differentially expressed genes(DEGs) in E8.5 d,E9.5 d and E10.5 d were detected,*** suggested that the expression of nkx2-1 in the experiment group is lower than in the control *** nkx2-1 gene was down regulated by 6 fold change,16 fold change,32 fold change in the E8.5 d,E9.5 d,E10.5 d,*** nkx2-1 gene expression was further verified in NTDs model caused by trans retinoic acid through real time semiquantitative *** we can draw a preliminary conclusion that nkx2-1 gene was related to the ***,study on whether nkx2-1 gene is associated with Shh signal pathway,the expression of related protein,such as Shh,Fgf8,Smo,Gli1,would be *** purpose of the research is aim to help for future studies of the mechanism on neural tube defects.

关键词： nkx2-1 mouse NTDs Gli1 Smo Shh signal pathway

来源： cnki会议评论

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郑州大学学报（医学版） 2012年第3期47卷 365-367页

作者：陈琦王志曹振杰赵金磊冯伟楼郑州大学第三附属医院小儿外科郑州450052

目的:探讨转录因子nkx2-1在先天性巨结肠(HD)患儿结肠肌间神经丛内神经节细胞中的表达。方法:应用免疫组化SP和RT-PCR技术检测30例HD患儿狭窄、移行和扩张段结肠组织和30例正常对照结肠组织中nkx2-1的表达情况。结果:HD患儿狭窄、移行... 详细信息

目的:探讨转录因子nkx2-1在先天性巨结肠(HD)患儿结肠肌间神经丛内神经节细胞中的表达。方法:应用免疫组化SP和RT-PCR技术检测30例HD患儿狭窄、移行和扩张段结肠组织和30例正常对照结肠组织中nkx2-1的表达情况。结果:HD患儿狭窄、移行段结肠组织中nkx2-1蛋白和mRNA的表达均低于正常对照组,差异有统计学意义(Z=5.236和2.926,P19.475和14.429,P1)。结论:转录因子nkx2-1在结肠肌间神经丛内神经节细胞中表达减少可能与HD的发生有关。

关键词：先天性巨结肠 nkx2-1 儿童

慢性鼻窦炎鼻息肉中转录因子nkx2-1调控嗜酸性炎症反应的作用

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山东大学耳鼻喉眼学报 2018年第4期32卷 17-23页

作者：黄远巴罗李波余文兴杨芳丽杜进涛遂宁市中心医院耳鼻咽喉头颈外科四川遂宁629000 西藏自治区人民医院耳鼻咽喉科西藏拉萨850000 四川大学华西医院耳鼻咽喉头颈外科四川成都610041

目的研究新型转录因子nkx2-1在慢性鼻窦炎伴鼻息肉发病中调控嗜酸性免疫炎症反应的作用。方法功能性鼻内镜手术获取鼻息肉及非变应性单纯鼻中隔偏曲患者鼻甲标本,通过酶联免疫、免疫组化及蛋白印迹检测细胞因子IL-5、IFN-γ、IL-17A,转... 详细信息

目的研究新型转录因子nkx2-1在慢性鼻窦炎伴鼻息肉发病中调控嗜酸性免疫炎症反应的作用。方法功能性鼻内镜手术获取鼻息肉及非变应性单纯鼻中隔偏曲患者鼻甲标本,通过酶联免疫、免疫组化及蛋白印迹检测细胞因子IL-5、IFN-γ、IL-17A,转录因子nkx2-1及趋化因子CCL17在患者中的表达。结果鼻息肉患者中IL-5阳性表达率为24%,并伴有IL-4、IgE等炎症介质及酸性粒细胞浸润升高特征;40%鼻息肉患者关键细胞因子阴性表达并伴有IL-1β、IL-8等非嗜酸性炎症升高特征。单纯IL-5+鼻息肉患者nkx2-1表达低于非变应性单纯鼻中隔偏曲患者,单纯IL-5+鼻息肉患者中趋化因子CCL17高于非变应性单纯鼻中隔偏曲患者,且与趋化嗜酸性粒细胞相关。结论新型转录因子nkx2-1在不同内在型鼻息肉患者中具有表达差异,其在单纯IL-5+鼻息肉患者中表达下降且有负性调控嗜酸性炎症反应作用。

关键词：鼻息肉细胞因子 nkx2-1 内在型

nkx2-1基因突变导致的先天性甲状腺机能低下、新生儿呼吸窘迫和共济失调均属于常染色体显性遗传

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世界核心医学期刊文摘（儿科学分册） 2005年第1期1卷 45-45页

作者： Doyle D.A. Gonzalez I. Thomas B. Scavina M. 张振 Division of EndocrinologyDepartment of Research Div.Neurol.Nemours Children's C.WilmingtonDEUnited States

目的:针对体检证实有促甲状腺激素水平增高、延续性足月产新生儿呼吸窘迫、持久性共济失调、构音障碍和发育迟滞等病变的两组异父(母)同胞,研究其nkx2-1基因突变情况。方法:采集患者及其未患病同胞的血液样本或口腔拭子,提取DNA样品,对... 详细信息

目的:针对体检证实有促甲状腺激素水平增高、延续性足月产新生儿呼吸窘迫、持久性共济失调、构音障碍和发育迟滞等病变的两组异父(母)同胞,研究其nkx2-1基因突变情况。方法:采集患者及其未患病同胞的血液样本或口腔拭子,提取DNA样品,对特异性片段进行扩增和序列分析。结果:在患病个体与其母亲和外祖母的DNA序列中,发现nkx2-1基因发生突变, 导致外显子2和3不能相互拼接;但是,在患者的未患病同胞体内,未发现上述基因的突变现象。这种突变以杂合子形式存在,因而,可解释相关疾病的表现型。结论:nkx2-1基因突变体的常染色体显性遗传机制。

关键词：新生儿呼吸窘迫 nkx2-1 共济失调基因突变甲状腺机能低下足月产体检证 DNA 序列分析血液样本

马乳源性生物活性肽生物学信息及其抗肺癌作用靶点探索

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中国乳品工业 2024年第1期52卷 17-21,64页

作者：古丽巴哈尔·卡吾力马建宝卡丽比努尔·艾尔肯徐志伟高晓黎新疆医科大学药学院乌鲁木齐830000

在前期研究基础上通过在线软件对已知氨基酸组成的马乳源性活性肽生物学信息和关键靶蛋白进行分析并进行分子对接,探索马乳源性活性肽抗肺癌作用靶点。结果表明马乳源的活性肽为不稳定、带正电荷的亲水性多肽,是没有跨膜区和信号肽,也... 详细信息

在前期研究基础上通过在线软件对已知氨基酸组成的马乳源性活性肽生物学信息和关键靶蛋白进行分析并进行分子对接,探索马乳源性活性肽抗肺癌作用靶点。结果表明马乳源的活性肽为不稳定、带正电荷的亲水性多肽,是没有跨膜区和信号肽,也没有糖基化和磷酸化位点的细胞膜外多肽,二级结构主要以无规则卷曲为主,与肺癌相关的核心靶点即CTNNB1、FGFR2、FOXF1、KRAS、nkx2-1、TGFBR2具有很好的结合亲和力,为深入研究马乳源活性肽的生物学功能奠定了基础。

关键词：抗氧化肽生物学信息分子对接肺癌 nkx2-1 CTNNB1