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Novel mutation in the ligand-binding domain of the androgen receptor gene (1790p) associated with complete androgen insensitivity syndrome 被引量:5
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作者 Florina Raicu Rossella Giuliani +5 位作者 Valentina Gatta Chiara Palka Paolo Guanciali Franchi Pierluigi Lelli-Chiesa Stefano Tumini Liborio Stuppia 《Asian Journal of Andrology》 SCIE CAS CSCD 2008年第4期687-691,共5页
Mutations in the X-linked androgen receptor (AR) gene cause androgen insensitivity syndrome (AIS), resulting in an impaired embryonic sex differentiation in 46,XY genetic men. Complete androgen insensitivity (CAI... Mutations in the X-linked androgen receptor (AR) gene cause androgen insensitivity syndrome (AIS), resulting in an impaired embryonic sex differentiation in 46,XY genetic men. Complete androgen insensitivity (CAIS) produces a female external phenotype, whereas cases with partial androgen insensitivity (PALS) have various ambiguities of the genitalia. Mild androgen insensitivity (MAIS) is characterized by undermasculinization and gynecomastia. Here we describe a 2-month-old 46,XY female patient, with all of the characteristics of CAIS. Defects in testosterone (T) and dihydrotestosterone (DHT) synthesis were excluded. Sequencing of the AR gene showed the presence in exon 6 of a T to C transition in the second base of codon 790, nucleotide position 2369, causing a novel missense Leu790Pro mutation in the ligand-binding domain of the AR protein. The identification of a novel AR mutation in a girl with CAIS provides significant information due to the importance of missense mutations in the ligand-binding domain of the AR, which are able to induce functional abnormalities in the androgen binding capability, stabilization of active conformation, or interaction with coactivators. 展开更多
关键词 androgen receptor novel androgen receptor gene mutation complete androgen insensitivity syndrome
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Androgen receptor gene polymorphism and sex hormones in elderly men:the Tromsøstudy 被引量:3
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作者 Paal Andre Skjærpe Yvonne L.Giwercman +1 位作者 Aleksander Giwercman Johan Svartberg 《Asian Journal of Andrology》 SCIE CAS CSCD 2009年第2期222-228,共7页
The aim of this study was to examine whether CAG/GGN repeats are significant modulators of serum concentrations of total and free testosterone(T)as well as of luteinizing hormone(LH)in elderly men.Sixty-nine 60-to 80-... The aim of this study was to examine whether CAG/GGN repeats are significant modulators of serum concentrations of total and free testosterone(T)as well as of luteinizing hormone(LH)in elderly men.Sixty-nine 60-to 80-year-old men with subnormal T levels(≤11.0 nmol L^(-1))and 104 men with normal T levels taking part in a nested case-control study were used for these analyses.Sex hormones were measured and free T was calculated.The CAG and GGN polymorphisms in the androgen receptor gene were determined by polymerase chain reaction and subsequent direct sequencing.There were no differences in the CAG and GGN repeat lengths between the groups.In cross-sectional analyses of the whole cohort,total and free T were positively associated with CAG length(all P<0.05)before,but not after,waist circumference or body mass index was added to the model.CAG repeat lengths were weakly,but not independently,associated with total and free T.These findings indicate that when clinically evaluating T and LH levels in elderly men,the CAG and GGN repeat lengths do not need to be taken into consideration. 展开更多
关键词 androgen receptor gene polymorphism luteinizing hormone TESTOSTERONE
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Expression of androgen receptor target genes in skeletal muscle 被引量:3
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作者 Kesha Rana Nicole KL Lee Jeffrey D Zajac Helen E MacLean 《Asian Journal of Andrology》 SCIE CAS CSCD 2014年第5期675-683,I0006,共10页
We aimed to determine the mechanisms of the anabolic actions of androgens in skeletal muscle by investigating potential androgen receptor (AR)-regulated genes in in vitro and in vivo models. The expression of the my... We aimed to determine the mechanisms of the anabolic actions of androgens in skeletal muscle by investigating potential androgen receptor (AR)-regulated genes in in vitro and in vivo models. The expression of the myogenic regulatory factor myogenin was significantly decreased in skeletal muscle from testosterone-treated orchidectomized male mice compared to control orchidectomized males, and was increased in muscle from male AR knockout mice that lacked DNA binding activity (AR△ZF2) versus wildtype mice, demonstrating that myogenin is repressed by the androgen/AR pathway. The ubiquitin ligase Fbxo32 was repressed by 12 h dihydrotestosterone treatment in human skeletal muscle cell myoblasts, and c-Myc expression was decreased in testosterone-treated orchidectomized male muscle compared to control orchidectomized male muscle, and increased in AR△ZF2 muscle. The expression of a group of genes that regulate the transition from myoblast proliferation to differentiation, Tceal7, p57Kip2, IEf2 and calcineurin Aa, was increased in AR△ZF2 muscle, and the expression of all but p57kip2 was also decreased in testosterone-treated orchidectomized male muscle compared to control orchidectomized male muscle. We conclude that in males, androgens act via the AR in part to promote peak muscle mass by maintaining myoblasts in the proliferative state and delaying the transition to differentiation during muscle growth and development, and by suppressing ubiquitin ligase-mediated atrophy pathways to preserve muscle mass in adult muscle. 展开更多
关键词 androgen receptor ANABOLIC ATROPHY gene expression skeletal muscle
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Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene:A case report 被引量:1
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作者 Ka-Na Wang Qing-Qing Chen +1 位作者 Yi-Lin Zhu Chun-Lin Wang 《World Journal of Clinical Cases》 SCIE 2021年第35期11036-11042,共7页
BACKGROUND Androgen insensitivity syndrome is an X-linked recessive genetic disease caused by mutations in the androgen receptor gene(AR).However,the underlying molecular mechanisms for the majority of AR variants rem... BACKGROUND Androgen insensitivity syndrome is an X-linked recessive genetic disease caused by mutations in the androgen receptor gene(AR).However,the underlying molecular mechanisms for the majority of AR variants remain unclear.In this study,we identified a point variant in three patients with complete androgen insensitivity syndrome(CAIS),summarized the correlation analysis,and performed a literature review.CASE SUMMARY The proband was raised as a girl.In infancy,she was first referred to hospital with a right inguinal hernia.Ultrasonography revealed the absence of a uterus and ovaries,and a testis-like structure located at the inguinal canal.Further diagnostic workup detected a 46,XY karyotype,and fluorescence in situ hybridization analysis showed the presence of the SRY gene.Histological analysis revealed the excised tissue to be testicular.Twelve years later,she was admitted to our hospital with a lack of breast development.Her pubic hair and breasts were Tanner stage I.She had normal female external genitalia.Blood hormone tests showed normal testosterone levels,low estradiol levels,and high gonadotropin levels.Her two siblings underwent similar examinations,and all three had a rare hemizygous missense mutation in AR:c.2678C>T.In vitro functional analyses revealed decreased nuclear translocation in AR-c.2678C>T mutation cells.CONCLUSION This case of CAIS was caused by an AR variant(c.2678C>T).Functional studies showed impaired nuclear translocation ability of the mutant protein. 展开更多
关键词 androgen insensitivity syndrome 46 XY disorders of sex development VARIANTS androgen receptor gene Ligand-binding domain Case report
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Correlation study between the polymorphism of repetitive sequence in gene CAG of androgen receptor and the occurrence and progression of prostate cancer 被引量:1
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作者 Xiao-Lei Zhai Xiao-Wei Qu +1 位作者 Liang Guo Qian-He Ha 《Asian Pacific Journal of Tropical Medicine》 SCIE CAS 2014年第4期301-304,共4页
Objective:To explore the relation between the polymorphism of repetitive sequence in gene CAG of androgen receptor(AR)and the susceptibility and clinical stages as well as pathological grading of prostate cancer among... Objective:To explore the relation between the polymorphism of repetitive sequence in gene CAG of androgen receptor(AR)and the susceptibility and clinical stages as well as pathological grading of prostate cancer among Han population.Method:Sixty-eight cases with prostate cancer hospitalized in Urinary Surgery Department from Feb.2010 to Feb.2012 and 60 healthy cases were chosen as research subjects.Methods of PCR and direct sequencing were adopted to detect DNA sequence of AR gene and the length of repetitive sequence in CAG.Results:The lengths of repetitive sequence in CAG of patients with prostate cancer and healthy people were(22.3±4.6)and(23.0±4.9),respectively showing no statistical significance.Comparing length(repetitive sequence of CAG)>22,those with that<22 suffer a remarkably higher risk of prostate cancer(P<0.05).The number of repetitive sequence in CAG of patients at clinical stage C-D was less than that of patients at stage B,and the number of repetitive sequence in CAG of patients with poorly differentiated prostate cancer was also less than that of patients with moderately and highly differentiated prostate cancer.But there was no statistical significance int the difference(P>0.05);the proportion of patients with length<22 at clinical stage C-D was much larger than that of patients at clinical stage B(P<0.05),and as the aggravation of pathological grading,the proportion of patients with the length<22 was also remarkably increased and there was significant difference between patients with highly differentiated prostate cancer and those with poorly differentiated prostate cancer(P<0.05).Conclusions:There is correlation between the occurrence and development of prostate cancer in Han population and the polymorphism of repetitive sequence in gene CAG of androgen receptor.The less the number of repetitive sequence in CAG is,the higher the risk of prostate cancer will be and the more severe the clinical stage and pathological grading will be. 展开更多
关键词 PROSTATE cancer androgen receptor POLYMORPHISM of CAG gene
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Mutations in the androgen receptor gene of seven Chinese patients with complete androgen insensitivity syndromes
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作者 陈光椿 卢建 +1 位作者 徐晓春 张金山 《Journal of Medical Colleges of PLA(China)》 CAS 1997年第4期338-342,共5页
To further investigate the molecular mechanism of androgen insensitivity syndromes (AIS), exons B to H of the androgen receptor (AR) gene in seven Chinese patients with Complete AlS (CAIS) were examined by the polymer... To further investigate the molecular mechanism of androgen insensitivity syndromes (AIS), exons B to H of the androgen receptor (AR) gene in seven Chinese patients with Complete AlS (CAIS) were examined by the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and direct DNA sequencing. Four distinct point mutations (Gly743Arg, Va1866Met, Arg752Gln, T2919→deletion) were identified in 4patients, and all the mutations were localized in exons E or G encoding androgen binding domain of AR. The frame-shift mutation caused by deletion of T2919 had not been reported yet so far, therefore, It was a novel mutation. Detection of the AR gene in 2 mothers showed both of them were heterozygotes carrying the same mutationsas their daughters. our study was helpful for further delineating the diversity of genetic alterations of the AR gene in patients with AlS and better understanding the relationships between structure and function of AR. 展开更多
关键词 androgen INSENSITIVITY SYNDROME androgen receptor gene MUTATION
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Suppression of androgen receptor gene expression by testosterone undecanoate in rats
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作者 贾孟春 刘德瑜 +4 位作者 吴燕婉 陈馨莲 周丽瀛 曾陶 张桂元 《生殖医学杂志》 CAS 1999年第S1期37-42,共6页
The mechanism of antifertility effect of testosterone undecanoate on male rat was investigated. Eight 12-week old rats were injected with 20 mg/kg of testosterone undecanoate at bi--week intervals for 3 months. As com... The mechanism of antifertility effect of testosterone undecanoate on male rat was investigated. Eight 12-week old rats were injected with 20 mg/kg of testosterone undecanoate at bi--week intervals for 3 months. As compared to that in the 10 control rafs, the sperm density in testis rete fluid of the treatment rats declined by 7%, the motility of sperm from epididymis cauda reduced to 6%. While the testosterone level in serum increased to 255 %, the testosterone level in testis rete fluid decreased to 55%. All of these differences were significant. The androgen receptor gene expression in the testis and epididymis was suppressed in the treatment group. The decrease in output of the sperm and sperm motility of epididymis cauda may be due to the reduced testosterone production by Leydig cells and suppression of androgen receptor gene expression in testis and epididymis. 展开更多
关键词 TESTOSTERONE undecanoate TESTIS RETE fluid receptor androgen gene expression RT PCR
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A protein in rat prostatic interacting with androgen regulated gene
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作者 XU YOUHAI, RONG CHANG, QIUPAO SONG AVD SHIMINGCHANGShanghai Institute of Gell Biology, Academia Sinica 《Cell Research》 SCIE CAS CSCD 1991年第1期1-13,共13页
2M NaCl-insoluble fraction of rat ventral prostatechromatin(residual proteins)contain proteins able tointeract specifically with androgen-receptor complex andis,therefore,a part of the acceptor complex.Amongresidual p... 2M NaCl-insoluble fraction of rat ventral prostatechromatin(residual proteins)contain proteins able tointeract specifically with androgen-receptor complex andis,therefore,a part of the acceptor complex.Amongresidual proteins,a 97 KDa protein has been found whichbinds signifieantly to a genomic fragment containingan androgen-regulated gene coding for a 22 KDa protein.The biological significance of this binding in androgenaction need to be further studied. A mini-plasmid clone containing 22 KDa proteincoding sequence was cloned into Charon 4A genomiclibrary from which a 5.7 Kb genomic fragment wasisolated,identified by hybridization with a 5’ and a 3’cDNA probes,and shown to contain the 5’ flankingsequence.Restriction enzyme treatment of this fragmentyielded a 4.7 Kb restriction fragment representingthe 5’ upstream region and a 1.0 Kb containing part ofthe coding sequence.Deletion studies indicated that the97 KDa protein bound only to a subclone of about 300 bpsegment.Furthermore,gel shifting experiment supportedits DNA-prptein binding. 展开更多
关键词 RAT PROSTATIC CHROMATIN 97 KDa residual PROTEIN androgen regulated gene sequences androgen receptor binding sites.
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4例46,XY性发育障碍患者遗传学分析
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作者 何城 宋琪玲 +4 位作者 彭韵霖 张婷 王希月 何勇均 蔡燕 《川北医学院学报》 CAS 2024年第4期444-447,共4页
目的:探讨4例46,XY性发育障碍发生的分子机制。方法:收集患者临床病历资料,采集其肝素抗凝外周血进行淋巴细胞培养,染色体G显带技术制备并分析染色体核型,提取外周血DNA行SRY基因检测和测序,SRY基因检测结果阴性者外送标本行性发育相关... 目的:探讨4例46,XY性发育障碍发生的分子机制。方法:收集患者临床病历资料,采集其肝素抗凝外周血进行淋巴细胞培养,染色体G显带技术制备并分析染色体核型,提取外周血DNA行SRY基因检测和测序,SRY基因检测结果阴性者外送标本行性发育相关基因靶向测序,生物信息学方法分析测序结果。结果:查体显示4例患者社会性别均为女性,而外周血淋巴细胞核型分析结果提示核型均为男性(46,XY),社会性别与生物学性别不一致;性别决定基因SRY均为阳性,测序结果提示病例1为SRY基因编码区第5位碱基缺失(c.del5A),病例2为SRY基因编码区第5位碱基发生错义突变(c.5A>T),病例3为SRY基因编码区第6位碱基缺失(c.del6A),病例4的SRY基因检测范围内未见突变位点,靶向测序结果提示雄激素受体基因(AR)编码区发生错义突变(c.2117 A>G);生物信息学软件Mutation taster提示c.del5A、c.del6A和c.2117 A>G等3种突变可能导致疾病发生,c.5A>T突变可能为人群多态现象;Raptor X蛋白质三维结构预测软件分析结果显示SRY基因c.5A>T突变对SRY蛋白的三维构象没有影响,而AR基因c.2117 A>G突变可导致AR蛋白的三维结构明显变化,并增加两个氢键;PolyPhen-2显示SRY基因c.5A>T和AR基因c.2117A>G突变为可能致病;ClinvAR软件分析结果提示4种突变均未见临床病例报道。结论:基因突变可能是导致患者性器官发育异常的原因,基因检测有助于明确诊断以及家庭再生育咨询。 展开更多
关键词 SRY基因 雄激素受体基因(AR) 性发育障碍 原发闭经 46 XY DSD
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Prostate androgen-regulated gene:a novel potential target for androgen-independent prostate cancer therapy
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作者 Xu, XF Zhou, SW +5 位作者 Zhang, X Ye, ZQ Zhang, JH Ma, X Zheng, T Li, HZ 《Asian Journal of Andrology》 SCIE CAS CSCD 2006年第4期455-462,516,共8页
Aim:To investigate the involvement of the prostate androgen-regulated(PAR)gene in the androgen receptor(AR) signaling pathway and the malignant phenotype of androgen-independent prostate cancer(PCa)cells.Methods:The d... Aim:To investigate the involvement of the prostate androgen-regulated(PAR)gene in the androgen receptor(AR) signaling pathway and the malignant phenotype of androgen-independent prostate cancer(PCa)cells.Methods:The difference in PAR expression between LNCaP and PC3 cells was detected by reverse transcription-polymerase chain reaction(RT-PCR).Androgen and anti-androgen effects on PAR expression were evaluated by RT-PCR in LNCaP,PC3 cells and PC3 cells stably transfected with vector containing wild-type AR.To determine the importance of PAR in the malignant proliferation of androgen-independent PCa cells,we used small interfering RNA(siRNA)transfection to knock down the expression of the gene in PC3 cells.The changes in the malignant phenotype of PCa cells after transfection were analyzed by cell count,colony formation in soft agar and flow cytometry.Results:PAR expression was 3-fold higher in PC3 cells than that in LNCaP cells.Dihydrotestosterone(DHT)regulated PAR mRNA expression in LNCaP cells and the effect was inhibited by the AR antagonist,flutamide.By contrast,DHT did not affect PAR expression in PC3 cells.The reintroduction of AR into PC3 cells by stable transfection restored the androgen effect on PAR upregulation. After the knockdown of the PAR gene by siRNA,PC3 cells exhibited a reversal of the malignant phenotype.Conclusion: Because of the possibility that PAR is downstream from the AR,and because of its contribution to malignant proliferation in androgen-independent PCa cells,the gene could be a potential therapeutic target for androgen-independent PCa with AR signaling pathway alteration.(Asian J Andro12006 Jul;8:455-462) 展开更多
关键词 prostate androgen-regulated gene prostate cancer androgen receptor DIHYDROTESTOSTERONE small interfering RNA
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9例儿童雄激素不敏感综合征临床特点和遗传学特点分析
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作者 徐磊 杨玉 +4 位作者 杨利 谢理玲 张东光 黄慧 熊翔宇 《南昌大学学报(医学版)》 2024年第3期59-65,共7页
目的 分析雄激素不敏感综合征(androgen insensitivity syndrome, AIS)患者的临床资料和遗传学结果。方法 收集2017—2022年在江西省儿童医院就诊的9例AIS患者临床资料,完善相关实验室检查及性腺、腹股沟彩超,并进行基因突变检测。结果 ... 目的 分析雄激素不敏感综合征(androgen insensitivity syndrome, AIS)患者的临床资料和遗传学结果。方法 收集2017—2022年在江西省儿童医院就诊的9例AIS患者临床资料,完善相关实验室检查及性腺、腹股沟彩超,并进行基因突变检测。结果 9例患者染色体均为男性核型,其中7例患者的社会性别为女性,2例为男性;所有患者就诊原因均有腹股沟斜疝(或伴有性别模糊),均发现AR基因突变,病例1为新突变(p.R608fs*18)。66.6%(6/9)的AIS患者突变位于配体结合域(ligand binding domain, LDB),80%(4/5)的完全型雄激素不敏感综合征患者突变位于LBD,50.0%(2/4)的部分型雄激素不敏感综合征患者突变位于LBD。55.5%(5/9)AIS患者突变类型为错义突变。结论 错义突变为AR基因常见突变类型,LBD是AIS的主要突变部位,外生殖器表现为女性患者,如发现腹股沟斜疝,应常规行性腺及腹股沟彩超检查以排外AIS。 展开更多
关键词 雄激素不敏感综合征 雄激素受体基因 遗传学
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三阴性乳腺癌组织中EGR1、AR、H3K4me3表达与其临床病理特征及预后的相关性
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作者 王丽 杜闯 +2 位作者 张亚青 李聪 王静 《实用癌症杂志》 2024年第10期1604-1607,共4页
目的探讨三阴性乳腺癌组织中早期生长反应基因1(EGR1)、雄激素受体(AR)、组蛋白H3第4位赖氨酸三甲基化(H3K4me3)表达与其临床病理特征及预后的相关性。方法回顾性分析89例三阴性乳腺癌患者的临床资料,所有患者均行手术治疗,采用免疫组... 目的探讨三阴性乳腺癌组织中早期生长反应基因1(EGR1)、雄激素受体(AR)、组蛋白H3第4位赖氨酸三甲基化(H3K4me3)表达与其临床病理特征及预后的相关性。方法回顾性分析89例三阴性乳腺癌患者的临床资料,所有患者均行手术治疗,采用免疫组化染色法测定EGR1、AR、H3K4me3表达,比较肿瘤组织及癌旁正常组织内EGR1、AR、H3K4me3表达差异,分析EGR1、AR、H3K4me3表达与其临床病理的关系,分析EGR1、AR、H3K4me3表达与其预后的关系。结果肿瘤组织内EGR1阳性表达率、AR阳性表达率低于对照组,H3K4me3阳性表达率高于对照组,差异有统计学意义(P<0.05);EGR1阳性表达、AR阳性表达患者临床分期Ⅰ~Ⅱ期、无淋巴结转移、中高分化占比高于EGR1阴性表达、AR阴性表达患者,H3K4me3阳性表达患者临床分期Ⅲ期、淋巴结转移、低分化占比高于H3K4me3阴性表达患者,差异有统计学意义(P<0.05);随访1年,89例患者共36例出现复发转移,发生率为40.45%(36/89);复发转移组EGR1阳性表达、AR阳性表达率低于未复发转移组,H3K4me3阳性表达率高于未复发转移组,差异有统计学意义(P<0.05)。结论EGR1、AR在三阴性乳腺癌中多呈阴性表达,H3K4me3则以阳性表达为主,三者表达均与临床分期、淋巴结转移及分化程度存在密切关系,或可作为临床治疗的新靶点。 展开更多
关键词 三阴性乳腺癌 早期生长反应基因1 雄激素受体 临床病理特征 预后
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完全性雄激素不敏感综合征合并苗勒管残留临床特点的分析与探讨
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作者 邱珊娇 许钰英 +5 位作者 张军 陈德禄 徐诚 马华梅 刘钧澄 林少宾 《中山大学学报(医学科学版)》 CAS CSCD 北大核心 2024年第6期1026-1035,共10页
【目的】分析完全性雄激素不敏感综合征(CAIS)合并苗勒管残留(MDR)患儿资料,并综述既往文献的报告,提高对CAIS的临床表现、病理生理的再认识。【方法】本研究通过对患儿病史回顾,体格检查,染色体、全外显子基因测序、促卵巢刺激素、黄... 【目的】分析完全性雄激素不敏感综合征(CAIS)合并苗勒管残留(MDR)患儿资料,并综述既往文献的报告,提高对CAIS的临床表现、病理生理的再认识。【方法】本研究通过对患儿病史回顾,体格检查,染色体、全外显子基因测序、促卵巢刺激素、黄体生成素、总睾酮、雌二醇、抗苗勒管激素、抑制素B、硫酸脱氢表雄酮、雄烯二酮、17羟孕酮等实验室检查,以及盆腔彩超、盆腔磁共振等影像学检查来诊断完全性雄激素不敏感综合征,并在腹腔镜下发现苗勒管结构。同时总结分析既往文献报道的完全性雄激素不敏感合并苗勒管结构类似病例。【结果】该患儿临床表现为女性表型,以原发性闭经来就诊,卵泡刺激素(FSH)、黄体生成素(LH)、睾酮升高,盆腔MRI示双侧隐睾,未见子宫附件,染色体核型46,XY,全外显子基因检测:AR基因半合子致病性变异c.2359C>T(p.Arg787*),AMH、AMHR2基因检测无异常。在腹腔镜下腹腔探查时发现发育不良睾丸及发育不良子宫。病理提示睾丸旁存在输卵管样结构。在数据库中共检索到基因确诊为CAIS并存MDR,且有详实数据的病例共11例。总结发现合并MDR的首诊表现、生化资料、性腺病理与无MDR的CAIS患者类似。【结论】本研究报道的CAIS患儿合并MDR,拓宽了CAIS的临床表现谱,为苗勒管退化的基础研究提供一种非依赖于AMH-AMHR2信号调控的思路。 展开更多
关键词 完全性雄激素不敏感综合征 苗勒管 苗勒管残留 性发育异常 雄激素受体基因
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NDRG1过表达对去势抵抗性前列腺癌耐药细胞株C4-2/ENZA耐药性的影响及其机制
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作者 张鹰 万朝辉 蒋先训 《吉林大学学报(医学版)》 CAS CSCD 北大核心 2024年第3期708-717,共10页
目的:探讨N-myc下游调节基因1(NDRG1)对去势抵抗性前列腺癌(CRPC)恩杂鲁胺(ENZA)耐药的影响,并阐明其作用机制。方法:体外培养人CRPC C4-2细胞和ENZA耐药株C4-2/ENZA细胞,采用实时荧光定量PCR(RT-qPCR)法检测C4-2/ENZA细胞及其亲本C4-2... 目的:探讨N-myc下游调节基因1(NDRG1)对去势抵抗性前列腺癌(CRPC)恩杂鲁胺(ENZA)耐药的影响,并阐明其作用机制。方法:体外培养人CRPC C4-2细胞和ENZA耐药株C4-2/ENZA细胞,采用实时荧光定量PCR(RT-qPCR)法检测C4-2/ENZA细胞及其亲本C4-2细胞中NDRG1 mRNA表达水平,Western blotting法检测C4-2/ENZA细胞及其亲本C4-2细胞中NDRG1、雄激素受体(AR)和前列腺特异性抗原(PSA)蛋白表达水平,以验证细胞转染效率。将C4-2/ENZA细胞分为空白组(正常培养不进行处理)、阴性对照慢病毒(Lv-NC)组(转染Lv-NC)、Lv-NDRG1组(转染Lv-NDRG1)、Lv-NC+ENZA组(转染Lv-NC后加入ENZA处理)、Lv-NDRG1+ENZA组(转染Lv-NDRG1后加入ENZA处理)、Lv-NDRG1+表皮生长因子(EGF)组(转染Lv-NDRG1后加入EGF处理)和Lv-NDRG1+EGF+ENZA组(转染Lv-NDRG1后加入EGF和ENZA处理)。采用噻唑蓝(MTT)法检测各组细胞半数抑制浓度(IC_(50))、耐药指数(RI)和细胞增殖活性,流式细胞术检测各组细胞凋亡率,RT-qPCR法检测各组细胞中NDRG1 mRNA表达水平,Western blotting法检测各组细胞中NDRG1、AR、第213位丝氨酸磷酸化雄激素受体(p-ARSer^(213))、第81位丝氨酸磷酸化雄激素受体(p-ARSer^(81))和PSA蛋白表达水平。结果:与C4-2细胞比较,C4-2/ENZA细胞中NDRG1 mRNA和蛋白表达水平均明显降低(P<0.01),AR和PSA蛋白表达水平明显升高(P<0.01),提示ENZA耐药株C4-2/ENZA中NDRG1低表达;与Lv-NC组比较,LvNDRG1组细胞中NDRG1 mRNA和蛋白表达水平均明显升高(P<0.01),提示成功构建NDRG1基因过表达C4-2/ENZA耐药细胞株。MTT法,与C4-2细胞比较,C4-2/ENZA细胞IC_(50)明显升高(P<0.01),RI为17.78;与Lv-NC组比较,Lv-NDRG1组C4-2/ENZA细胞IC_(50)明显降低(P<0.01)。EGF处理24 h,与Lv-NC组比较,Lv-NC+EGF组C4-2/ENZA细胞IC_(50)明显升高(P<0.01);与Lv-NDRG1组比较,Lv-NDRG1+EGF组C4-2/ENZA细胞IC_(50)明显升高(P<0.01)。与ENZA处理前比较,不同浓度ENZA处理24 h,C4-2和C4-2/ENZA细胞增殖活性均逐渐降低(F=223.80,P<0.01;F=81.46,P<0.01)。ENZA处理24 h,与Lv-NC组比较,Lv-NDRG1组C4-2/ENZA细胞增殖活性明显降低(P<0.01)。EGF处理24 h,与Lv-NC组比较,Lv-NC+EGF组C4-2/ENZA细胞增殖活性明显升高(P<0.01),Lv-NDRG1+EGF组C4-2/ENZA细胞增殖活性明显降低(P<0.01)。选择10.000μmol·L^(-1) ENZA和干预24 h作为后续检测浓度及时间点。流式细胞术,ENZA处理24 h,与Lv-NC组比较,Lv-NDRG1组细胞凋亡率明显升高(P<0.01);与Lv-NC+ENZA组比较,Lv-NDRG1+ENZA组细胞凋亡率明显升高(P<0.01)。EGF处理24h,与Lv-NDRG1组比较,Lv-NDRG1+EGF组细胞凋亡率明显降低(P<0.01),Lv-NDRG1+ENZA组细胞凋亡率明显升高(P<0.01);与Lv-NDRG1+ENZA组比较,Lv-NDRG1+EGF+ENZA组细胞凋亡率明显降低(P<0.01)。Western blotting法,ENZA处理24 h,与Lv-NC组比较,Lv-NDRG1组细胞中AR和PSA蛋白表达水平及p-ARSer^(213)/AR和p-ARSer^(81)/AR比值均明显降低(P<0.05或P<0.01)。EGF处理24 h,与Lv-NC组比较,Lv-NC+EGF组细胞中AR和PSA蛋白表达水平及p-ARSer^(213)/AR和p-ARSer^(81)/AR比值均明显升高(P<0.05或P<0.01);与Lv-NDRG1组比较,Lv-NDRG1+EGF组细胞中AR和PSA蛋白表达水平及p-ARSer^(213)/AR和p-ARSer^(81)/AR比值均明显升高(P<0.01)。结论:NDRG1过表达可降低CRPC对ENZA的耐药性,其作用机制可能与抑制AR信号转导有关。 展开更多
关键词 去势抵抗性前列腺癌 N-myc下游调节基因1 恩杂鲁胺 耐药性 雄激素受体
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5例肯尼迪病患者临床特征与基因突变分析 被引量:1
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作者 吴毅毅 张梅 +3 位作者 王彦 李亚强 李静 贺佳乐 《齐齐哈尔医学院学报》 2023年第5期406-411,共6页
目的研究5例肯尼迪病患者的临床特征和基因突变。方法收集2009年9月—2020年3月本院神经内科收治的5例肯尼迪病患者的临床资料,分析其临床特点、实验室检查、肌电图、神经电生理和基因特点。采用聚合酶链反应和毛细管电泳法检测雄激素... 目的研究5例肯尼迪病患者的临床特征和基因突变。方法收集2009年9月—2020年3月本院神经内科收治的5例肯尼迪病患者的临床资料,分析其临床特点、实验室检查、肌电图、神经电生理和基因特点。采用聚合酶链反应和毛细管电泳法检测雄激素受体基因突变。结果来自4个家系的5例患者均为男性,发病年龄20-40岁,平均(28.60±7.68)岁。所有患者均有典型的神经系统表现,如缓慢起病、进行性无力、肌肉萎缩等。所有患者血清肌酸激酶轻中度升高,肌电图检查提示神经源性异常。部分患者有男性乳腺发育、空腹血糖、血脂水平升高等非神经系统表现。结论AR基因第一外显子的CAG重复扩增可导致汉族男性肯尼迪病患者具有典型的临床表现。目前肯尼迪氏病的诊断仍依赖于基因检测。 展开更多
关键词 肯尼迪病 临床特点 雄激素受体基因 CAG重复序列
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女性外阴尖锐湿疣的克隆性 被引量:15
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作者 朱少君 苏勤 +3 位作者 王淑芳 刁小莉 巩丽 刘节 《诊断病理学杂志》 CSCD 2003年第2期81-84,T024,共5页
目的 根据女性体细胞中两条X染色体上雄激素受体 (AR)基因的长度多态性进行非放标克隆性检测 ,以探讨尖锐湿疣的克隆组成。方法 石蜡切片HE染色后进行显微解剖 ,提取基因组DNA ,Hha Ⅰ消化 ,巢式PCR扩增 ,变性聚丙烯酰胺凝胶电泳后银... 目的 根据女性体细胞中两条X染色体上雄激素受体 (AR)基因的长度多态性进行非放标克隆性检测 ,以探讨尖锐湿疣的克隆组成。方法 石蜡切片HE染色后进行显微解剖 ,提取基因组DNA ,Hha Ⅰ消化 ,巢式PCR扩增 ,变性聚丙烯酰胺凝胶电泳后银染显示单股DNA片段长度。结果 在 68例湿疣标本中 ,65例扩增成功 ,其中 53例 (81 5 % )具有AR位点的多态性 ;在适于分析的 45例中 ,9例 (2 0 % )显示AR位点长度多态性丢失 ,属于单克隆性增生 ;其余 36例 (80 % )无多态性丢失 ,提示为多克隆增生。单克隆性病变的核分裂指数明显高于多克隆病变 ,但二者的凋亡小体计数差异不显著。结论 大部分尖锐湿疣属于多克隆性病变 ,属反应性增生 ;少部分是克隆性增生 。 展开更多
关键词 女性 外阴尖锐湿疣 克隆性 肿瘤性增生 石蜡切片 HE染色
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雄激素受体基因第一外显子CAG重复序列长度多态性与男性膀胱癌的发生有关 被引量:4
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作者 刘贵秋 苏勤 +2 位作者 张伟 刁小莉 冯英明 《第四军医大学学报》 北大核心 2005年第21期1963-1966,共4页
目的:探讨人雄激素受体(AR)基因第一外显子CAG串联短重复序列(STR)多态性与男性膀胱癌发生之间的关系. 方法: 石蜡包埋的男性膀胱癌标本进行基因组DNA提取,PCR扩增,变性聚丙烯酰胺凝胶电泳,经银染显示单股DNA链片段长度. 根据标本的泳... 目的:探讨人雄激素受体(AR)基因第一外显子CAG串联短重复序列(STR)多态性与男性膀胱癌发生之间的关系. 方法: 石蜡包埋的男性膀胱癌标本进行基因组DNA提取,PCR扩增,变性聚丙烯酰胺凝胶电泳,经银染显示单股DNA链片段长度. 根据标本的泳动度推算CAG STR的n值;选取代表性的标本产物直接测序,验证上述检测的准确性. 以男性阑尾炎标本作为参照组. 结果: 95例膀胱癌标本中有6例(6.3%)出现微卫星不稳定(MSI)现象,其中1例因正常组织过少而无法确定其产物的正常泳动位置,不做以下分析. 94例膀胱癌及相同例数参照标本的CAG STR n值范围分别为8~26和14~30,均数分别为20.07±3.12和21.06±3.39,两者有统计学意义(P<0.05). 结论: AR基因第一外显子CAG STR与男性膀胱癌的发生或(和)发展有关,CAG STR较短的男性个体患膀胱癌的危险性可能增加. 展开更多
关键词 雄激素受体基因 CAG重复序列 基因多态性 膀胱肿瘤
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LSD1和AR在前列腺癌中的表达及其意义 被引量:4
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作者 高琪琪 金晓东 +2 位作者 任国平 向华 王波 《实用肿瘤杂志》 CAS 北大核心 2011年第1期21-24,共4页
目的检测赖氨酸特异性组蛋白脱甲基酶(LSD1)和雄激素受体(AR)在前列腺癌中的表达,探讨其与前列腺癌的Gleason分级、临床分期、复发和转移之间的关系。方法收集150例前列腺癌患者随机标本制作组织芯片,另30例非肿瘤性前列腺组织作为对照... 目的检测赖氨酸特异性组蛋白脱甲基酶(LSD1)和雄激素受体(AR)在前列腺癌中的表达,探讨其与前列腺癌的Gleason分级、临床分期、复发和转移之间的关系。方法收集150例前列腺癌患者随机标本制作组织芯片,另30例非肿瘤性前列腺组织作为对照。用免疫组织化学EnVision法检测两组标本中LSD1和AR的表达情况。结果前列腺癌组织中LSD1和AR阳性率分别为90.7%和80.3%,非肿瘤性前列腺组织中阳性率分别为20.0%和10.0%。相关分析表明,LSD1和AR在前列腺癌中的表达与Gleason分级以及复发相关,与临床分期和转移无相关性。结论 LSD1和AR可能是预测前列腺癌复发及预后的重要生物学指标。 展开更多
关键词 前列腺肿瘤 基因 LSD1 受体 雄激素 复发 预后 免疫组织化学
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中国女性血细胞X染色体失活偏移与年龄相关 被引量:3
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作者 李刚 苏勤 +5 位作者 张伟 刘贵秋 巩丽 朱少君 张贺龙 冯英明 《现代肿瘤医学》 CAS 2006年第3期266-269,共4页
目的 了解健康中国女性个体X染色体失活偏移(SXCI)的发生状况,明确年龄因素是否与之关联。方法 采集401例健康中国女性的外周血标本,提取基因组DNA,经HpaⅡ消化后,PCR扩增雄激素受体(AR)基因,产物经变性聚丙烯酰胺凝胶电泳,... 目的 了解健康中国女性个体X染色体失活偏移(SXCI)的发生状况,明确年龄因素是否与之关联。方法 采集401例健康中国女性的外周血标本,提取基因组DNA,经HpaⅡ消化后,PCR扩增雄激素受体(AR)基因,产物经变性聚丙烯酰胺凝胶电泳,银染显示结果,比较HpaⅡ消化前后等位基因扩增产物的强度差异,计算其校正比值(CR)。结果 无论采用CR≥3抑或≥10作为标准,老年组(50岁~96岁)SXCI发生率均显著高于新生儿组(出生后4周以内)或青年组(16岁~50岁),而新生儿组与青年组之间差异不显著。采用标准CR≥3时,新生儿组为4.3%(P=0.532vs青年组),青年组为7.8%(P=0vs老年组),老年组为25.7%(P=0.001vs新生儿组)。采用CR≥10标准时,新生儿组为2.2%(P=1vs青年组),青年组为1.2%(P=0vs老年组),老年组为11.1%(P=0vs新生儿组)。结论 健康中国女性SXCI发生率是随年龄的增长而变动的,年龄与女性个体SXCI的发生相关。在筛选女性肿瘤易感个体时,应注意用作对照的健康女性的SXCI的发生状况。 展开更多
关键词 X染色体失活 偏移 雄激素受体基因 女性
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RNA干扰沉默雄激素受体基因对前列腺癌细胞生长的抑制作用研究 被引量:3
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作者 王洛夫 张尧 +2 位作者 兰卫华 靳风烁 江军 《重庆医学》 CAS CSCD 北大核心 2010年第1期28-30,共3页
目的设计、合成针对雄激素受体(AR)基因的具有高干扰效率的si RNA,观察其对前列腺癌细胞的生长抑制作用。方法设计、合成多个针对AR的si RNA,转染前列腺癌细胞LNCaP,筛选出对AR基因干扰效率最高的ARsi RNA,用RT-PCR检测AR mRNA水平,并... 目的设计、合成针对雄激素受体(AR)基因的具有高干扰效率的si RNA,观察其对前列腺癌细胞的生长抑制作用。方法设计、合成多个针对AR的si RNA,转染前列腺癌细胞LNCaP,筛选出对AR基因干扰效率最高的ARsi RNA,用RT-PCR检测AR mRNA水平,并计算细胞生长抑制率。结果采用Silencer si RNA Construction Kit成功合成了ARsi RNA,转染LN-CaP细胞,筛选出一个对其生长抑制作用最强的si RNA,并证实AR mRNA水平显著下降,LNCaP细胞的生长抑制率为78.2%。结论针对雄激素受体的si RNA可沉默雄激素受体基因,并抑制前列腺癌细胞的生长。 展开更多
关键词 前列腺癌 RNA干扰 雄激素受体 基因治疗
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