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ATP结合匣式转运子

ATP结合匣式转运子的相关文献在2003年到2021年内共计62篇,主要集中在基础医学、内科学、药学 等领域,其中期刊论文62篇、专利文献155330篇;相关期刊27种,包括中国病理生理杂志、中华检验医学杂志、中华老年心脑血管病杂志等; ATP结合匣式转运子的相关文献由290位作者贡献,包括赖文岩、郭志刚、于晓伟等。

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ATP结合匣式转运子—发文趋势图

ATP结合匣式转运子

-研究学者

  • 赖文岩
  • 郭志刚
  • 于晓伟
  • 吴佳易
  • 周珊珊
  • 唐朝克
  • 张松灵
  • 聂赛
  • 肖志杰
  • 赵水平
  • 期刊论文
  • 专利文献

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    • 郑长涛; 张世安; 张霞; 陈少华; 江艺; 李东良
    • 摘要: 目的 探讨ABCB11基因V444A突变与原发性肝胆管结石发生的相关性.方法 采取病例对照研究方法选取联勤保障部队第九○○医院肝胆病中心2017年10月至2019年6月确诊的164例福建籍原发性肝胆管结石患者[男91例,女73例,年龄(46.0±13.0)岁]和164名同一地区健康对照人群[男99名,女65名,年龄(43.8±16.7)岁]为研究对象.采用TaqMan-MGB探针方法对ABCB 11基因V444A SNPs多态性位点进行检测,计算上述位点等位基因和基因型频率,采用Pearson x2检验对所检出的等位基因及基因型进行关联分析;logistic回归分析各基因型与肝胆管结石患病相关性.结果 两组人群年龄和性别比较差异均无统计学意义(均P>0.05);Hardy-Weinberg平衡检验结果显示对照组人群中V444A位点的基因型及等位基因频率符合Hardy-Weinberg遗传平衡定律,所选人群具有代表性(P=0.161);V444A位点等位基因及基因型共检出T、C2个等位基因,TT、TC、CC 3个基因型,病例组中T、C等位基因频率分别为28.4%和71.6%,对照组中T、C等位基因频率分别为35.4%和64.6%,两组等位基因频率分布差异无统计学意义(P=0.054),病例组中TT、TC、CC的基因型频率为5.5%、45.7%、48.8%,对照组中TT、TC、CC的基因型频率为14.6%、41.5%、43.9%,两组基因型分布差异有统计学意义(P=0.023);V444A位点基因型与肝内胆管结石的发病风险的多因素分析发现该位点TC型杂合突变可能增加原发性肝内胆管结石的患病风险.结论 ABCB 11基因V444A突变可能是肝内胆管结石发病的一个危险因素.
    • 梁洁; 赵向聪; 牛红青; 穆艳飞; 李照华; 李小峰; 王彩虹
    • 摘要: Objective We investigated the correlation between inflammatory cytokines and drugresi-stant proteins. Methods Fourteen DBA1 mice were successfully induced by collagen and Freund's adjuvant. According to the scores of synovial pathology, the collagen-induced arthritis (CIA) group was divided into mild, moderate-severe groups, another four mice were selected as controls. The mRNA expressions of P-glycoprotein (P-gp), breast cancer resistance protein (BCRP), multidrug resistance protein 1 (MRP1) in splenic lymphocyte cells were measured by reverse transcription-polymerase chain reaction (RT-PCR). The concentrations of inter-leukin (IL)-1β, IL-2, IL-6, IL-10, umor necrosis factor (TNF)-α, IL-17 in serum were detected by Cytometric Bead Array (CBA). The correlation between different inflammatory cytokines and these proteins were analyzed, then one of the proteins which were most related with cytokines by immunohisto-chemical (IHC) in the synovium was studied. Data were analyzed by the Mann-Whitney U test, Kruskal-Wallis H test and spearman analysis. Results ①Compared with normal controls, the levels of IL-6 and TNF-α in the serum of mild CIA group, moderate-severe CIA group were significantly increased {IL-6 controls: [7.75 (5.14, 9.17) pg/ml];mild CIA: [25.31 (15.15, 29.27) pg/ml]; modeate-severe CIA: [45.03 (38.87, 64.02) pg/ml]. TNF-α: controls: [22.81 (20.84, 28.17) pg/ml]; mild CIA: [45.00(32.76, 58.51) pg/ml]; modeate-severe CIA: [45.00(39.78, 8.95) pg/ml]}(Z=14.383, P0.05). ② In the spleen lymphocytes, there was no significant difference in the mRNA expression level of P-gp and BCRP among the groups, but the mRNA expression level of MRP1 was significantly increased (Z=12.634, P0.05).②中重度CIA组MRP1 mRNA[2.07(1.77,2.22)pg/ml]高于轻度CIA组[1.32(1.08,1.49)pg/ml]、正常对照组[1.08(0.65,1.30)pg/ml](Z=12.634,P<0.05).3组P-gp,BCRP的mRNA差异无统计学意义.MRP1与P-gp有相关性(r=0.635,P=0.015).③MRP1 mRNA的表达与IL-6呈正相关(r=0.711,P=0.004).④MRP1的表达与IL-6水平有一定浓度依赖性.⑤与正常对照组相比,CIA模型组膝关节与踝关节滑膜组织细胞胞质/胞膜呈棕黄色,提示MRP1表达阳性.结论 在CIA关节炎模型中,ABC转运蛋白家族中MRP1表达与滑膜病变严重程度相关,且其与血清中炎性因子IL-6水平高度相关.
    • 刘雅婧; 马倩倩; 员旭红; 李佳; 申晓彧
    • 摘要: 目的 探究罗格列酮联合依折麦布对脂化血管平滑肌细胞(SMC)胆固醇含量的影响及可能机制.方法 将原代大鼠胸主动脉SMC分空白对照组、泡沫细胞组、依折麦布3.0、10.0、30.0μmol/L组、罗格列酮组(25.0tμmol/L)、联合组(罗格列酮25.0 μmol/L+依折麦布30.0 μmol/L).采用酶荧光法检测各组细胞内总胆固醇(TC)及游离胆固醇(FC)的含量,并计算胆固醇酯(CE)值.RT-PCR检测肝X受体α(LXRα)和三磷酸腺苷结合盒转运体A1(ABCA1)mRNA表达,Western blot检测LXRα和ABCA1蛋白表达量.结果 泡沫细胞组较空白对照组LXRα和ABCA1 mRNA(0.2980±0.0247 vs1.0010±0.0554,0.3022±0.0266 vs1.0009±0.0526)以及蛋白表达均减少(P<0.05),TC、FC和CE含量显著增加(P<0.05);与泡沫细胞组比较,依折麦布组3.0、10.0、30.0tμmol/L、罗格列酮组和联合组LXRα和ABCA1 mRNA及蛋白表达均增加,依折麦布组则呈现浓度依赖性;依折麦布组30.0 μmol/L、罗格列酮组和联合组TC、FC和CE含量减少(P<0.05);且联合组LXRα和ABCA1 mRNA及蛋白增加更为明显(P<0.05).结论 罗格列酮与依折麦布联合,显著减少细胞内胆固醇含量,增加SMC内的胆固醇逆转运效率,其机制可能与LXRα-ABCA1通路有关.
    • 容维宁; 王晓光; 盛迅伦
    • 摘要: Objective To analyze the relationship between genotype and phenotype of different types of hereditary retinopahty caused by ABCA4 gene.Method Three (3) pedigrees that carried mutations on ABCA4 gene as determined through the second generation sequencing technology were selected from the patients diagnosed with hereditary retinal disease in Ningxia Eye Hospital between Januaryand September 2016.The clinical features of patients and other family members of them were collected and analyzed with complete ophthalmic examinations including visual acuity,best corrected visual acuity,fundus examination,macular OCT,fundus fluorescein angiography and electroretinogram (ERG).The relationship between genotype and phenotype was analyzed.Results All the 3 pedigrees were autosomal recessive families.Four mutations on ABCA4 gene were detected,the CRD pedigree and the RP pedigress carried a homozygous frameshift mutation respectively.The Stargardt pedigree carried two heterozygous mutations.The onset age of the patients were less than 10 years.The best corrected visual acuity was lower than 0.1 and the macular OCT indicated different levels of macular area atrophy,and the visual electrophysiological changes varied from completely normal to significantly reduced visual stem cell function in different cases.Conclusions The patients with hereditary retinal disease that carried ABCA4 gene mutations were featured with characteristics of early onset age,rapid progress and severe visual impairment.The second generation sequencing technique has the advantages of rapidness and high efficiency in the diagnosis of hereditary retinal disease.%目的 研究分析ABCA4基因所致的不同类型遗传性视网膜疾病的基因型和临床表型关系.方法 回顾性研究.从2016年1至9月在宁夏眼科医院就诊的遗传性视网膜疾病患者中,选择经Agilent液相捕获技术确定携带ABCA4基因突变位点的家系3个,完善相关病史资料采集,同时对家系患者及其家系成员进行详细眼科检查,包括裸眼视力、最佳矫正视力、眼底检查、相干光断层扫描、眼底荧光造影检查和视觉电生理检查,分析临床表型和基因型之间的关系.结果 3个家系均为常染色体隐性遗传家系,3个家系在ABCA4基因上共检测到致病性突变位点4个,其中1个视椎视杆细胞营养不良家系和1个视网膜色素变性(RP)家系各携带1个纯和移码突变,1个Stargardt病家系携带2个杂合突变,3个家系的患者发病年龄均小于10岁,就诊时最佳矫正视力均低于0.1,黄斑OCT提示不同程度的黄斑区萎缩,视觉电生理改变从完全正常到视椎视杆细胞功能严重下降不一.结论 携带ABCA4基因突变的遗传性视网膜变性疾病的患者具有发病年龄小,病程进展快,视力损伤严重等特点,二代测序技术在遗传性视网膜疾病的诊断方面具有快速、高效等优点.
    • 李佳; 员旭红; 马倩倩; 刘雅婧; 申晓彧
    • 摘要: 目的 研究瑞舒伐他汀、依折麦布及两者联合是否通过肝X受体α (LXRα)-三磷酸腺苷结合盒转运体A1(ABCA1)信号通路影响血管平滑肌细胞(VSMC)来源的泡沫细胞胆固醇水平.方法 取大鼠胸主动脉3~5代VSMC进行实验,分为9组:对照组,不干预,仅单独培养VSMC 48 h;模型组,用氧化型LDL(ox-LDL 50 μg/ml)诱导VSMC,单独培养48 h;依折麦布A组(3.0 μmol/L)、依折麦布B组(10.0μmol/L)、依折麦布C组(30.0 μmol/L)、瑞舒伐他汀A组(0.1 μmol/L)、瑞舒伐他汀B组(1.0 μmol/L)及瑞舒伐他汀C组(5.0 μmol/L)在用ox-LDL 50μg/ml诱导VSMC基础上,分别加入不同剂量的依折麦布或瑞舒伐他汀培养24 h;联合组,在用ox-LDL 50 μg/ml诱导VSMC基础上,加入依折麦布30.0μmol/L和瑞舒伐他汀5.0 μmol/L,培养24 h.检测各组TC、游离胆固醇(FC)及胆固醇酯(CE)水平及各组细胞LXRα、ABCA1 mRNA及蛋白表达水平.结果 与对照组比较,模型组TC、FC、CE水平显著升高,LXRα、ABCA1 mRNA及蛋白表达明显降低(P<0.05);与模型组比较,瑞舒伐他汀C组、依折麦布C组及联合组TC、FC、CE水平显著减少,LXRα、ABCA1 mRNA及蛋白表达显著增加(P<0.05);且联合组LXRα、ABCA1 mRNA及蛋白表达水平明显高于依折麦布各组及瑞舒伐他汀各组(P<0.05).结论 瑞舒伐他汀、依折麦布及2个最适浓度的联合均可以通过上调LXRα、ABCA1表达,促进泡沫细胞中ABCA1介导的胆固醇的逆转运,减少胆固醇在细胞中蓄积,且联合组较单药组效果更显著.
    • 尹建国; 张社兵; 彭道泉
    • 摘要: 目的 探讨表没食子儿茶素没食子酸酯(epigallocatechin-3-gallate,EGCG)对泡沫细胞中胆固醇流出的影响及其机制.方法 人单核细胞白血病细胞诱导分化为巨噬细胞再转化为泡沫细胞,将细胞分为对照组,低、中和高剂量组,每组1.5×106个细胞,分别用0,10,30,100 μmol/L EGCG干预后,胆固醇检测试剂盒检测细胞中胆固醇含量,液体闪烁计数仪检测载脂蛋白A-I介导的泡沫细胞胆固醇流出,蛋白质印迹检测三磷酸腺苷结合盒转运体A1(ATP-binding cassette A1,ABCA1)蛋白质表达,实时荧光定量PCR检测ABCA1 mRNA的表达.结果 与对照组比较,低、中和高剂量组泡沫细胞ABCA1 mRNA和蛋白表达明显升高(P<0.01),胆固醇流出率升高[(7.04±0.21)%、(7.75±0.17)%、(8.53±0.18)% vs (3.37±0.16)%,P<0.01],胆固醇含量降低[(419.33±19.75) mg/g、(352.58±14.23)mg/g、(312.62±17.45)mg/g vs (520.51±20.62) mg/g,P<0.01],且中剂量组和高剂量组胆固醇流出率、胆固醇含量和ABCA1蛋白表达均较低剂量组变化明显(P<0.05).结论 EGCG通过上调ABCA1的转录与表达,促进胆固醇流出,减轻细胞中胆固醇负荷.%Objective To study the effect of epigallocatechin-3 gallate (EGCG) on cholesterol efflux in foam cells and its mechanism.Methods THP-1 cells were induced to differentiate into macrophages which were then transformed to foam cells.Foam cells were divided into 0 μmol/L EGCG group,10 μmol/L EGCG group,30 μmol/L EGCG group,and 100 μmol/L EGCG group (1.5 × 106 in each group).Their cholesterol content was measured with a cholesterol test kit,apoA-I-mediated cholesterol efflux was assayed with a liquid scintillation counter,expression of ATP-binding cassette A1 (ABCA1) was detected by RT-PCR and Western blot respectively.Results The ABCA1 mRNA and protein expression levels and cholesterol efflux were significantly higher while the cholesterol content was significantly lower in 10 μmol/L EGCG group,30 μmol/L EGCG group,and 100 μmol/L EGCG group than in 0 μmol/L EGCG group (7.04% ±0.21%,7.75%±0.17% and 8.53%±0.18% vs 3.37%±0.16%,P<0.01;419.33±19.75 mg/g,352.58± 14.23 mg/g and 312.62±17.45 mg/g vs 520.51 ±20.62 mg/g,P<0.01),and in 30 μmol/L EGCG group,100μmol/L EGCG group than in 10μmol/L EGCG group (P<0.05).Conclusion EGCG increases cholesterol efflux and decreases cholesterol content in foam cells by upregulating the transcription and expression of ABCA1.
    • 贾艳菊; 崔洪艳
    • 摘要: ATP结合匣式转运子G2(ATP-Binding Cassette Family G2 Transporters,ABCG2)是胎盘表达的主动转运因子之一,ABCG2的生理作用是保护组织免受内源性毒素或异生物质的损害和维持细胞稳态.ABCG2在人胎盘中高表达,位于合体滋养细胞膜面向母血侧,可以有效地形成母胎循环间的屏障,限制药物、内毒素及异生物质透过胎盘而对胎儿产生影响,并与胎盘分化、细胞凋亡及一些妊娠并发症如子痫前期、妊娠期糖尿病、绒毛膜羊膜炎及胎儿生长受限的发生发展及治疗有关,了解ABCG2有重要的临床意义.综述ABCG2的结构、功能及其在产科领域的研究进展.%ATP-Binding Cassette Family G2 Transporters (ABCG2) is one of the active transporters in the placenta. It can not only resist the drugs entering cells, but also transport a variety of harmful toxic chemicals away from body. The physiological function of ABCG2 is likely to protect tissues from endogenous toxin or different xenobiotics and remain the cellular environmental homeostasis, ABCG2 is highly expressed in human placenta,it is located in the apical membrane of syncytiotrophoblast cell facing the mother side and form a barrier effectively in the maternal-fetal interface, limiting drugs, endogenous toxin and xenobiotics which possibly affect the fetus through the placenta. ABCG2 is also participate in the differentiation of placenta and cell apoptosis and some complications of pregnancy such as preeclampsia, gestational diabetes, chorioamnionitis and fetal growth restriction, etc. As a drug transporter, ABCG2 is related to the therapy of these complications during pregnancy. It is important to know more about ABCG2 for its important clinical significance. The structure and function of the ABCG2 and its roles in the field of obstetrics were reviewed in this paper.
    • 魏子龙; 狄冲; 楼美清; 赵耀东
    • 摘要: Objective To investigate the effect of schizandrin A on drug resistance of glioma stem/ progenitor cells (GSPCs) and its mechanism.Methods Isolate and culture SHG-44s cells from human glioma cell line SHG-44.The SHG-44s cells were treated with different concentrations of schizandrin A (0,12.50,25.00 and 50.00 μmol/L) and vincristine (400,800 and 1200 nmol/L).The cell proliferative activity was measured by cell counting kit-8 (CCK-8) assay.Rhodamine 123 staining was used to detect the drug delivery ability of SHG-44s cells.The transcription and translation ability of ATP binding cassette subfamily B member 1 (ABCB1) gene of SHG-44s cells was detected by real-time polymerase chain reaction (PCR) and Western blotting.Results The proliferative activity of SHG-44s cells was inhibited when the concentration of schizandrin A was 50 μmol/L (P =0.001,0.001,0.039),so this concentration was removed in the follow-up study.No matter the concentration of vincristine was 400,800 or 1200 nmol/L,combining with schizandrin A could inhibit the proliferative activity of SHG-44s cells (vincristine 400 nmol/L:P =0.007,0.001;vincristine 800 nmol/L:P =0.001,0.000;vincristine 1200 nmol/L:P =0.000,0.000).Inverted fluorescence microscopy findings showed SHG-44s cells in the group of schizandrin A 0 μ mol/L rarely revealed green fluorescence,while SHG-44s cells in the groups of schizandrin A 12.50 and 25.00 μmol/L presented obvious green fluorescence.Flow cytometry showed that with the increasing of schizandrin A concentration,the percentage of positive cells by Rhodamine 123 staining was 10.40%,39.20% and 45.20%,respectively.Real-time PCR showed that ABCB1 gene expression levels of SHG-44s cells in schizandrin A 12.50 μmol/L group and 25.00 μ mol/L group were significantly decreased comparing with schizandrin A 0 μmol/L group (P =0.027,0.006),especially in schizandrin A 25.00 μmol/L group (P =0.034).Western blotting showed that the expression level of P-glycoprotein (P-gp) in SHG-44s cells was gradually decreased with the increasing of schizandrin A concentration.Conclusions Schizandrin A can inhibit the drug delivery ability of P-gp coded by ABCB1 gene existing in the surface of GSPCs.It can further reverse the drug resistance of GSPCs by reducing the transcription and translation of ABCB1 gene.%目的 探讨五味子甲素对胶质瘤干/祖细胞耐药性的影响及作用机制.方法 自人胶质瘤细胞系SHG-44中分离培养胶质瘤干/祖细胞SHG-44s,予五味子甲素0、12.50、25.00和50.00 μmol/L联合长春新碱400、800和1200 nmol/L,细胞活性检测试剂盒CCK-8细胞毒性实验检测SHG-44s细胞增殖活性,罗丹明123染色检测SHG-44s细胞泵出药物能力,实时聚合酶链反应(PCR)和Western blotting法检测SHG-44s细胞ATP结合盒转运子B1(ABCB1)基因转录和翻译能力.结果 五味子甲素50 μmol/L即可抑制SHG-44s细胞增殖活性(P=0.001,0.001,0.039),剔除这一浓度后无论长春新碱浓度为400、800或1200 nmol/L,联合应用五味子甲素均可抑制SHG-44s细胞增殖活性(长春新碱400 nmol/L组:P=0.007,0.001;长春新碱800 nmol/L组:P=0.001,0.000;长春新碱1200 nmol/L组:P=0.000,0.000).倒置荧光显微镜观察,五味子甲素12.50 μmol/L组和25.00 μmol/L组SHG-44s细胞可见明显绿色荧光.流式细胞术显示,随着五味子甲素浓度的增加,SHG-44s细胞罗丹明123染色阳性细胞比例分别为10.40%、39.20%和45.20%.实时PCR法显示,五味子甲素12.50μmol/L组和25.00μmol/L组SHG-44s细胞ABCB1基因表达水平较0μmol/L组降低(P=0.027,0.006),尤以25.00μmol/L组显著(P=0.034).Western blotting法显示,随着五味子甲素浓度的增加,SHG-44s细胞P-糖蛋白表达水平下降.结论 五味子甲素通过抑制胶质瘤干/祖细胞表面已存在的ABCB1基因编码的P-糖蛋白泵出药物能力并降低ABCB1基因转录和翻译能力,逆转胶质瘤干/祖细胞耐药性.
    • 谢娜; 陈德晖; 林育能; 吴上志; 顾莹莹; 曾庆思; 翟莺莺; 杨立莹; 徐佳兴
    • 摘要: Objective To report a case of the pulmonary surfactant protein (SP) adenosine triphosphate-binding-cassette-A3 (ABCA3) gene mutations in infant congenital interstitial lung disease (ILD),and review the related literature,to investigate the relationships of ABCA3 gene mutation associated with ILD in infants.Method A 6-months-old boy was hospitalized in the department of Pediatrics of the First Affiliated Hospital of Guangzhou Medical University.The clinical,radiological,histological information from transbronchial lung biopsy (TBLB) and genetic testing in this case was analyzed;12 reports retrieved on literature search at Pubmed,OVID databases from 2004 to 2015 by using the ABCA3 as keyword were reviewed and analyzed.Result (1) The patient,a 6-months-old boy,had progressive tachypnea and dyspnea since 4 months old.Physical examination on admission revealed respiratory rate of 78 times/min,heart rate of 187 times/min,SpO2 0.93 (mask oxygen-inspiration with 6 L/min),scattered fine moist crackles could be heard over the both lungs,clubbing fingers were found.High-resolution computed tomography(HRCT) revealed diffuse ground-glass opacity,interlobular and intralobular septal thickening.Lung biopsies showed evidences of the alveolar cavity atelectatic changes and interstitial fibrosis.SP-A and SP-B were negative in immunohistochemical stainting.SP-related gene sequence analysis found that there was compound heterozygous missense mutation of ABCA3 gene in c.1942A > G,c.2701-33G > C and c.991-105C > A.(2) The review of related literature found that totally 12 cases were reported.The main manifestations were progressive tachypnea and dyspnea,age of onset was between birth and 4 years of age.The imaging characteristics of chest HRCT revealed diffuse infiltration or diffuse ground-glass pattern in the lung.Prognosis:6 cases died,and 6 cases survived,including 4 cases with pulmonary function disturbance to different degrees;12 cases had ABCA3 gene mutations,9 cases had composite ABCA3 gene mutations,in 11 cases the mutation occured in the exon of coding region,in 1 case in the intron,9 cases had heterozygous mutations,3 cases had homozygous mutations.Conclusion The main phenotypes of ABCA3 mutation associated with ILD were full term neonatal respiratory distress syndrome or progressive tachypnea or dyspnea unexplained in infants.The chest HRCT showed two diffuse pulmonary interstitial changes.ABCA3 mutation mainly was multi-site composite mutations and heterozygous mutations in the exon of coding region.%目的 报道1例肺表面活性蛋白ATP结合盒A家族成分3(ABCA3)基因突变相关性婴儿肺间质疾病(ILD),复习文献并探讨ABCA3基因突变与婴幼儿ILD相关性.方法 总结、分析2014年12月广州医科大学附属第一医院儿科收治的1例ILD病例的临床、影像、肺组织病理特点与基因检测结果,并以“ABCA3”为主题词,在PubMed、OVID数据库检索2004至2015年的相关病例报道,进行文献复习.结果 (1)患儿男,6月龄,4月龄起进行性气促,唇周发绀,呼吸困难.入院时情况:呼吸78次/min,心率187次/min,面罩吸氧6 L/min下氧饱和度0.93,三凹征明显,双肺可闻及固定湿性啰音,有杵状指(趾).胸部CT:两肺弥漫磨玻璃密度影,肺间质增厚.经支气管镜肺组织活检病理结果:肺泡腔萎陷,间质轻度纤维化.免疫组织化学:表面活性蛋白(SP)-A、SP-B无表达.肺表面活性蛋白相关基因检测结果:ABCA3 c.1942A>G及c.2701-33G>C、c.991-105C>A复合突变.(2)复习文献:检索到相关文献12篇12例,均为足月儿,发病年龄:生后0h~4岁,均以进行性气促,呼吸困难为主要表现,影像学表现为两肺弥漫网格状改变或磨玻璃样变.预后:6例死亡,6例存活,其中4例有不同程度的肺功能障碍.12例患儿基因检测均有ABCA3基因突变,9例为ABCA3基因复合突变,突变位点11例在编码区外显子处,1例在内含子处,9例为杂合突变,3例为纯合突变.结论 ABCA3基因突变相关性ILD多表现为足月儿的呼吸窘迫综合征或婴儿期不明原因的进行性气促、呼吸困难,影像学呈两肺弥漫间质改变.ABCA3基因突变以多位点复合突变多见,多为编码区外显子处杂合突变.
    • 贾永明; 汪娜; 薛迪; 刘学伟
    • 摘要: β-淀粉样蛋白(Aβ)的产生及清除异常会影响其脑内的动态平衡.研究表明,位于脑实质及血脑屏障上的转运体在Aβ的产生及清除过程中都发挥重要作用.因此,影响转运体在脑内的表达及活性可能改变Aβ在脑内累积量的变化,进而影响阿尔采末病的病理学过程.本文从ATP结合盒转运体、晚期糖基化终产物受体和低密度脂蛋白受体相关蛋白-1在脑内的分布及对Aβ的产生和清除的影响等方面进行综述.
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