Mounting evidence indicates that long non-coding RNAs(lncRNAs)have critical roles in colorectal cancer(CRC)progression,providing many potential diagnostic biomarkers,prognostic biomarkers,and treatment targets.Here,we...Mounting evidence indicates that long non-coding RNAs(lncRNAs)have critical roles in colorectal cancer(CRC)progression,providing many potential diagnostic biomarkers,prognostic biomarkers,and treatment targets.Here,we sought to investigate the role and underlying regulatory mechanism of lncRNA small nucleolar RNA host gene 16(SNHG16)in CRC.The expressions of SNHG16 in CRC were identified by RNA-sequencing and quantitative reverse transcription PCR.The functions of SNHG16 were explored by a series of in vitro and in vivo assays(colony formation assay,flow cytometry assay,and xenograft model).Bioinformatics analysis,RNA fluorescence in situ hybridization and luciferase reporter assay were used to investigate the regulatory mechanism of effects of SNHG16.SNHG16 was found to be significantly elevated in human CRC tissues and cell lines.Functional studies suggested that SNHG16 promoted CRC cell growth both in vitro and in vivo.Mechanistically,we identified that SNHG16 is expressed predominantly in the cytoplasm.SNHG16 could interact with miR-214-3p and up-regulated its target ABCB1.This study indicated that SNHG16 plays an oncogenic role in CRC,suggesting it could be a novel biomarker and therapeutic target in CRC.展开更多
近年来,难治性癫痫的病因与多药耐药基因以及多药耐药基因与抗癫痫治疗的因果关系越来越受到关注。P糖蛋白(P-glycopretein,P-gp)是由ATP结合盒B亚家族成员1转运蛋白基因(ATP-binding cassette subfamily B member 1 transporter gene,A...近年来,难治性癫痫的病因与多药耐药基因以及多药耐药基因与抗癫痫治疗的因果关系越来越受到关注。P糖蛋白(P-glycopretein,P-gp)是由ATP结合盒B亚家族成员1转运蛋白基因(ATP-binding cassette subfamily B member 1 transporter gene,ABCB1)编码的产物。它不仅可以限制抗癫痫药物(antiepileptic drug,AED)的消化道吸收,而且可以在细胞和亚细胞水平调控药物在中枢神经系统的运输过程。除了生理和环境因素的影响,P-gp的功能和表达的变化可能主要取决于ABCB1基因的多态性,这是目前研究得最广泛、最深入的多药耐药机制。本文就目前ABCB1基因多态性与难治性癫痫的相关性研究进展作一综述。展开更多
目的探讨系统性红斑狼疮(systemic lupus erythematosus,SLE)患者纤溶酶原激活物抑制剂-1(plasminogen activator inhibitor-1,PAI-1)基因4G/5G及多药耐药性蛋白(ATP-binding cassette subfamily B member 1,ABCB1)基因C3435T多态性分...目的探讨系统性红斑狼疮(systemic lupus erythematosus,SLE)患者纤溶酶原激活物抑制剂-1(plasminogen activator inhibitor-1,PAI-1)基因4G/5G及多药耐药性蛋白(ATP-binding cassette subfamily B member 1,ABCB1)基因C3435T多态性分布特征。方法 79例SLE患者依据脏器损伤情况分为SLE继发股骨头坏死(osteonecrosis of the femeral head,ONFH)组20例,狼疮肾炎(lupus nephritis,LN)组37例,其他组22例。采用数字荧光分子杂交技术检测3组外周血PAI-1基因4G/5G和ABCB1基因C3435T多态性,比较3组PAI-1基因高危4G4G型、ABCB1基因C3435T位点高危CC型分布频率。结果79例患者PAI-1基因4G4G、4G5G、5G5G基因型频率分别为29.1%、51.9%、19.0%,ABCB1基因C3435T位点CC、CT、TT基因型频率分别为41.7%、39.2%、19.1%;SLE-ONFH组、LN组PAI-1基因高危4G4G型分布频率(35.0%、35.1%)与其他组(13.6%)比较差异无统计学意义(P>0.05);SLE-ONFH组、LN组ABCB1基因C3435T位点高危CC型分布频率(50.0%、51.4%)高于其他组(18.2%)(P<0.05);SLE-ONFH组PAI-1基因高危4G4G型、ABCB1基因C3435T位点高危CC型分布频率与LN组比较差异无统计学意义(P>0.05)。结论 ABCB1基因C3435T位点高危CC型可能与SLE患者继发ONFH、LN有关。展开更多
目的总结X连锁肾上腺脑白质营养不良(X-linked adrenoleukodystrophy,X-ALD)家系的基因变异及产前诊断特点,探讨产前诊断在预防X-ALD患儿出生中的应用价值。方法回顾性纳入2012年11月至2019年3月在北京大学第一医院就诊的20个X-ALD家系...目的总结X连锁肾上腺脑白质营养不良(X-linked adrenoleukodystrophy,X-ALD)家系的基因变异及产前诊断特点,探讨产前诊断在预防X-ALD患儿出生中的应用价值。方法回顾性纳入2012年11月至2019年3月在北京大学第一医院就诊的20个X-ALD家系。取先证者、家系成员的外周血标本及母亲再孕胎儿的羊水或绒毛标本,提取基因组DNA,应用聚合酶链反应-Sanger测序检测致病基因ABCD1(ATP-binding cassette subfamily D member 1)的变异情况。同时选取ABCD1基因附近的5个短串联重复序列位点进行连锁分析,以排除母源DNA污染。采用描述性统计分析总结X-ALD家系的基因变异及产前诊断特点。结果在20个X-ALD家系中,发现了20种ABCD1基因变异。3例二代测序未检出ABCD1基因变异的先证者均通过聚合酶链反应-Sanger测序检出变异。20例先证者的母亲中3例未发现携带变异,17例携带变异。20例母亲的24例次产前诊断(胎儿24例)中8例胎儿检出ABCD1基因变异(引产终止妊娠),16例胎儿未检测到变异,均活产分娩。引产或者生后子代验证结果与产前诊断一致。结论致病基因ABCD1无热点变异,变异大部分遗传自母亲,聚合酶链反应-Sanger测序是检测该基因变异的有效手段;对生育过X-ALD患者的母亲再孕时进行产前诊断,可以有效地预防患儿出生。展开更多
基金supported by grants from the National Natural Science Foundation of China(Grant No.81972806)Jiangsu Provincial Key Research and Development Plan(Grant No.BE2019614),Key Project of Science and Technology Development of Nanjing Medicine(ZKX21042)+1 种基金Elderly Health Research Project of Jiangsu Province(Grant No.LR2021017)Specialized Cohort Research Project of Nanjing Medical University(Grants No.NMUC2020035 and NMUC2021013A).
文摘Mounting evidence indicates that long non-coding RNAs(lncRNAs)have critical roles in colorectal cancer(CRC)progression,providing many potential diagnostic biomarkers,prognostic biomarkers,and treatment targets.Here,we sought to investigate the role and underlying regulatory mechanism of lncRNA small nucleolar RNA host gene 16(SNHG16)in CRC.The expressions of SNHG16 in CRC were identified by RNA-sequencing and quantitative reverse transcription PCR.The functions of SNHG16 were explored by a series of in vitro and in vivo assays(colony formation assay,flow cytometry assay,and xenograft model).Bioinformatics analysis,RNA fluorescence in situ hybridization and luciferase reporter assay were used to investigate the regulatory mechanism of effects of SNHG16.SNHG16 was found to be significantly elevated in human CRC tissues and cell lines.Functional studies suggested that SNHG16 promoted CRC cell growth both in vitro and in vivo.Mechanistically,we identified that SNHG16 is expressed predominantly in the cytoplasm.SNHG16 could interact with miR-214-3p and up-regulated its target ABCB1.This study indicated that SNHG16 plays an oncogenic role in CRC,suggesting it could be a novel biomarker and therapeutic target in CRC.
文摘近年来,难治性癫痫的病因与多药耐药基因以及多药耐药基因与抗癫痫治疗的因果关系越来越受到关注。P糖蛋白(P-glycopretein,P-gp)是由ATP结合盒B亚家族成员1转运蛋白基因(ATP-binding cassette subfamily B member 1 transporter gene,ABCB1)编码的产物。它不仅可以限制抗癫痫药物(antiepileptic drug,AED)的消化道吸收,而且可以在细胞和亚细胞水平调控药物在中枢神经系统的运输过程。除了生理和环境因素的影响,P-gp的功能和表达的变化可能主要取决于ABCB1基因的多态性,这是目前研究得最广泛、最深入的多药耐药机制。本文就目前ABCB1基因多态性与难治性癫痫的相关性研究进展作一综述。
文摘目的探讨系统性红斑狼疮(systemic lupus erythematosus,SLE)患者纤溶酶原激活物抑制剂-1(plasminogen activator inhibitor-1,PAI-1)基因4G/5G及多药耐药性蛋白(ATP-binding cassette subfamily B member 1,ABCB1)基因C3435T多态性分布特征。方法 79例SLE患者依据脏器损伤情况分为SLE继发股骨头坏死(osteonecrosis of the femeral head,ONFH)组20例,狼疮肾炎(lupus nephritis,LN)组37例,其他组22例。采用数字荧光分子杂交技术检测3组外周血PAI-1基因4G/5G和ABCB1基因C3435T多态性,比较3组PAI-1基因高危4G4G型、ABCB1基因C3435T位点高危CC型分布频率。结果79例患者PAI-1基因4G4G、4G5G、5G5G基因型频率分别为29.1%、51.9%、19.0%,ABCB1基因C3435T位点CC、CT、TT基因型频率分别为41.7%、39.2%、19.1%;SLE-ONFH组、LN组PAI-1基因高危4G4G型分布频率(35.0%、35.1%)与其他组(13.6%)比较差异无统计学意义(P>0.05);SLE-ONFH组、LN组ABCB1基因C3435T位点高危CC型分布频率(50.0%、51.4%)高于其他组(18.2%)(P<0.05);SLE-ONFH组PAI-1基因高危4G4G型、ABCB1基因C3435T位点高危CC型分布频率与LN组比较差异无统计学意义(P>0.05)。结论 ABCB1基因C3435T位点高危CC型可能与SLE患者继发ONFH、LN有关。
文摘目的总结X连锁肾上腺脑白质营养不良(X-linked adrenoleukodystrophy,X-ALD)家系的基因变异及产前诊断特点,探讨产前诊断在预防X-ALD患儿出生中的应用价值。方法回顾性纳入2012年11月至2019年3月在北京大学第一医院就诊的20个X-ALD家系。取先证者、家系成员的外周血标本及母亲再孕胎儿的羊水或绒毛标本,提取基因组DNA,应用聚合酶链反应-Sanger测序检测致病基因ABCD1(ATP-binding cassette subfamily D member 1)的变异情况。同时选取ABCD1基因附近的5个短串联重复序列位点进行连锁分析,以排除母源DNA污染。采用描述性统计分析总结X-ALD家系的基因变异及产前诊断特点。结果在20个X-ALD家系中,发现了20种ABCD1基因变异。3例二代测序未检出ABCD1基因变异的先证者均通过聚合酶链反应-Sanger测序检出变异。20例先证者的母亲中3例未发现携带变异,17例携带变异。20例母亲的24例次产前诊断(胎儿24例)中8例胎儿检出ABCD1基因变异(引产终止妊娠),16例胎儿未检测到变异,均活产分娩。引产或者生后子代验证结果与产前诊断一致。结论致病基因ABCD1无热点变异,变异大部分遗传自母亲,聚合酶链反应-Sanger测序是检测该基因变异的有效手段;对生育过X-ALD患者的母亲再孕时进行产前诊断,可以有效地预防患儿出生。
