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Novel mutations in ubiquitin-specific protease 26 gene might cause spermatogenesis impairment and male infertility 被引量:11
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作者 Jie Zhang Shu-Dong Qiu +5 位作者 Sheng-Bin Li Dang-Xia Zhou Hong Tian Yong-Wei Huo Ling Ge Qiu-Yang Zhang 《Asian Journal of Andrology》 SCIE CAS CSCD 2007年第6期809-814,共6页
Aim: To study the incidence of single nucleotide polymorphisms in ubiquitin-specific protease 26 (USP26) gene and its involvement in idiopathic male infertility in China. Methods: Routine semen analysis was perfor... Aim: To study the incidence of single nucleotide polymorphisms in ubiquitin-specific protease 26 (USP26) gene and its involvement in idiopathic male infertility in China. Methods: Routine semen analysis was performed. Infertility factors such as immunological, infectious and biochemical disorders were examined to select patients with idiopathic infertility. DNA was isolated from peripheral blood of the selected patients and control population, which were examined for mutations using polymerase chain reaction-single strand conformation polymorphism analysis. Furthermore, nucleotide sequences were sequenced in some patients and controls. Results: Of 41 infertile men, 9 (22.0%, P = 0.01) had changes in USP26 gene on the X chromosome. A compound mutation (364insACA; 460G→A) was detected in 8 patients (19.5%, P = 0.01) and a 1044T→A substitution was found in 1 patient (2.4%, P 〉 0.05). All three variations led to changes in the coding amino acids. Two substitutions predict some changes: 460G→ A changes a valine into an isoleucine, and 1044T → A substitutes a leucine for a phenylalanine. Another insertion of three nucleotides ACA causes an insertion of threonine. No other changes were found in the remaining patients and fertile controls. Conclusion: The USP26 gene might be of importance in male reproduction. Mutations in this gene might be associated with male infertility, and might negatively affect testicular function. Further research on this issue is in progress. 展开更多
关键词 male INFERTILITY deubiquitination enzymes ubiquitin-specific protease 26
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USP26负性调控RLR信号通路对肠道病毒71型复制的影响
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作者 许超 盛成兰 +2 位作者 蒋邦栋 张春秋 史伟峰 《临床检验杂志》 CAS 2023年第7期496-500,共5页
目的研究泛素特异性蛋白酶26(ubiquitin-specific protease 26,USP26)通过调控RLR信号通路影响肠道病毒71型(EV71)感染的机制和功能,深入了解EV71感染及其逃逸免疫防御关系,为临床治疗EV71感染提供依据。方法利用RT-PCR和Western blot... 目的研究泛素特异性蛋白酶26(ubiquitin-specific protease 26,USP26)通过调控RLR信号通路影响肠道病毒71型(EV71)感染的机制和功能,深入了解EV71感染及其逃逸免疫防御关系,为临床治疗EV71感染提供依据。方法利用RT-PCR和Western blot分别检测EV71感染横纹肌肉瘤细胞(RD)0、2、4、8、12、24 h后的USP26 mRNA、VP1 mRNA及其蛋白质的表达水平;在RD细胞中设置转染USP26-siRNA(实验组)和转染阴性对照siRNA(对照组),再用EV71感染RD细胞,收集感染8、12和24 h时的mRNA样本,RT-PCR检测VP1 mRNA的表达情况;收集感染8 h时的蛋白质样本,Western blot检测细胞中MDA5、p-IRF3、IRF3蛋白的表达水平并计算p-IRF3/IRF3的相对比值;利用空斑试验检测病毒滴度水平。结果Western blot和RT-PCR结果表明,EV71感染过程中USP26的表达上调(P<0.05);RD细胞转染后实验组EV71中VP1 mRNA的表达水平明显低于同一时间的对照组(P<0.05),感染8 h实验组中MDA5蛋白和p-IRF3蛋白的表达水平均显著高于对照组(P<0.05);两组IRF3总蛋白的表达水平差异无统计学意义;空斑试验中实验组EV71的病毒滴度显著低于对照组(P<0.05)。结论USP26可通过负性调控RLR信号通路参与抗病毒免疫反应,敲减USP26可抑制EV71在细胞中的复制。 展开更多
关键词 肠道病毒71型 RLR信号通路 泛素特异性蛋白酶26 基因敲减 抗病毒免疫
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Association of 370-371insACA, 494T〉C, and 1423C〉T haplotype in ubiquitin-specific protease 26 gene and male infertility: a meta-analysis 被引量:2
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作者 Jia-Dong Xia Jie Chen +4 位作者 You-Feng Han Hai Chen Wen Yu Yun Chen Yu-Tian Dai 《Asian Journal of Andrology》 SCIE CAS CSCD 2014年第5期720-724,I0008,共6页
Whether the 370-371insACA, 494T〉C, and 1423C〉T haplotype in ubiquitin-specific protease 26 (USP26) gene is associated with male infertility is controversial. To clarify this issue, we conducted a meta-analysis bas... Whether the 370-371insACA, 494T〉C, and 1423C〉T haplotype in ubiquitin-specific protease 26 (USP26) gene is associated with male infertility is controversial. To clarify this issue, we conducted a meta-analysis based on the most recent studies. Eligible studies were screened by using PubMed and Embase. Pooled odd ratio (OR) with 95% confidence interval (CI) was calculated with fixed effect models. Ten studies with 1603 patients and 2505 controls were included, Overall, the results indicated that there was an association between the haplotype and male infertile risk (OR = 1.74, 95% CI: 1.09-2.77). The OR calculated based on the five studies in Asia and three in Europe was 1.96 (95% CI: 1,05-3.67) and 1.54 (95% Ch 0.75-3.16) respectively, however, the OR was 0.86 (95% Ch 0.05-15,29) based on the two investigations in America. In addition, the data from the patients with azoospermia (AZO) showed an increased pooled OR of 2.35 (95% Cl: 1.22-4.50). In contrast, the studies with oligoasthenoteratozoospermia (OAT) exhibited that the pooled OR was 0,97 (95% Ch 0.43-2.16). Our analyses indicate that there is an association of alteration in USP26 with male infertility, especially in AZO and Asian population. 展开更多
关键词 HAPLOTYPE male infertility META-ANALYSIS ubiquitin-specific protease 26
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The association between mutations in ubiquitin-specific protease 26(USP26)and male infertility:a systematic review and meta-analysis
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作者 Qin-Yu Li Yu-Cong Zhang +7 位作者 Chao Wei Zhuo Liu Guo-Da Song Bing-Liang Chen Man Liu Ji-Hong Liu Li-Cheng Wu Xia-Ming Liu 《Asian Journal of Andrology》 SCIE CAS CSCD 2022年第4期422-429,共8页
During recent decades,the association between mutations in ubiquitin-specific protease 26(USP26)and male infertility remains doubtful.We conducted this meta-analysis to evaluate the association between mutations in US... During recent decades,the association between mutations in ubiquitin-specific protease 26(USP26)and male infertility remains doubtful.We conducted this meta-analysis to evaluate the association between mutations in USP26 and male infertility according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses(PRISMA)2020 guidelines.It was registered in the International Prospective Register of Systematic Reviews(PROSPERO;CRD42021225251).PubMed,Web of Science,and Scopus were systematically searched for comparative clinical studies,which were written in English and provided eligible data.Studies were included when they compared USP26 mutations in azoospermic,oligozoospermic,and asthenozoospermic patients with controls with normal sperm parameter values or whose partners had experienced spontaneous pregnancy.Pooled odds ratio(OR)with 95%confidence interval(CI)was calculated with random effect models.Overall,twelve studies with 3927 infertility patients and 4648 healthy controls were included.The association between overall USP26 mutations and infertility was not significant(OR=1.60,95%CI:0.51-5.01).For specific mutations,the pooled ORs were 1.65(95%CI:1.02-2.69)for cluster mutation(including 370-371insACA,494T>C,and 1423C>T),1.80(95%CI:0.35-9.15)for c.576G>A,1.43(95%CI:0.79-2.56)for c.1090C>T,and 3.59(95%CI:2.30-5.59)for c.1737G>A.Our results suggest that several mutations(cluster mutation,c.1737G>A)may play roles in male infertility,while others(c.576G>A and c.1090C>T)do not show notable associations with male infertility.More high-quality clinical researches are needed for validation. 展开更多
关键词 AZOOSPERMIA HAPLOTYPE male infertility MUTATION ubiquitin-specific protease 26
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泛素特异蛋白酶26基因多态性与特发性男性不育症的相关性研究 被引量:3
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作者 张洁 邵小光 +4 位作者 史艳彬 鄢磊 王磊 田宏 邱曙东 《中华男科学杂志》 CAS CSCD 2012年第2期105-108,共4页
目的:研究泛素特异蛋白酶26(Usp26)基因多态性与特发性男性不育的关系及其在精子发生过程中的作用机制。方法:按照WHO标准(第4版)从150例不育患者中筛选出41例特发性不育患者,同时选取50例正常生育男性作为对照。采用PCR-SSCP法,从特发... 目的:研究泛素特异蛋白酶26(Usp26)基因多态性与特发性男性不育的关系及其在精子发生过程中的作用机制。方法:按照WHO标准(第4版)从150例不育患者中筛选出41例特发性不育患者,同时选取50例正常生育男性作为对照。采用PCR-SSCP法,从特发性不育患者中筛选突变样本,通过基因测序以确定突变方式和位点。结果:筛选出的41例特发性男性不育患者主要表现为精子浓度低、活动率差。基因测序分析结果显示:41例不育患者中9例(22.0%,P=0.01)存在Usp26基因的改变。其中,从8例(19.5%,P=0.01)患者中检测出复合突变:364位插入ACA和460位A置换了G;从1例(2.4%,P>0.05)患者中检测出1 044位A置换了T。以上3种变化均导致编码氨基酸的改变。50例正常生育男性均未发现该基因的突变。结论:Usp26基因的多态性可能与特发性男性不育症密切相关,且影响睾丸功能。 展开更多
关键词 特发性男性不育 去泛素化作用酶 泛素特异蛋白酶26基因 单核苷酸多态性
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The expression of Usp26 gene in mouse testis and brain
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作者 Jie Zhang Hong Tian +5 位作者 Yong-Wei Huo Dang-Xia Zhou Hai-Xu Wang Li-Rong Wang Qiu-Yang Zhang Shu-Dong Qiu 《Asian Journal of Andrology》 SCIE CAS CSCD 2009年第4期478-483,共6页
Deubiquitinating enzymes (DUBs) play an important role in ubiquitin-dependent processes as negative regulators of protein ubiquitination. Ubiquitin-specific protease 26 (USP26) is a member of this family. The expr... Deubiquitinating enzymes (DUBs) play an important role in ubiquitin-dependent processes as negative regulators of protein ubiquitination. Ubiquitin-specific protease 26 (USP26) is a member of this family. The expression of Usp26 in mammalian testis and in other tissues has yet to be fully elucidated. To study the expression of Usp26 mRNA and protein in various murine tissues, reverse transcription (RT)-PCR and immunohistochemistry analyses were carried out. The RT-PCR analysis showed that the Usp26 transcript was expressed in all of the tested tissues. USP26 protein localization was examined by immunohistochemistry, and it was shown that USP26 was not detectable at 20 days postpartum, with the expression restricted to the cytoplasm of condensing spermatids (steps 9-16), Leydig cells and nerve fibers in the brain. In addition, the USP26 protein was detected at moderate levels in myocardial ceils, the corpus of epidydimis, epithelium of the renal tubules and the seminal gland of postnatal day 35 mice. Its spatial and temporal expression pattern suggests that Usp26 may play an important role in development or function of the testis and brain. Further research into these possibilities is in progress. 展开更多
关键词 ubiquitin-specific protease 26 (USP26 Usp26 gene deubiquitination enzymes protein degradation SPERMATOGENESIS MOUSE
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泛素特异蛋白酶26基因序列改变与精子发生相关性的研究 被引量:4
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作者 魏莉 史轶超 +2 位作者 范晓博 崔英霞 黄宇烽 《医学研究生学报》 CAS 2010年第10期1020-1024,共5页
目的泛素特异蛋白酶26基因(ubiquitin specific protease 26,USP26)序列改变是否影响精子发生还存在争议。文中对精子发生障碍患者进行USP26基因序列分析,以检验USP26基因序列改变在不育男性患者中的分布,并分析与精子发生障碍之间的关... 目的泛素特异蛋白酶26基因(ubiquitin specific protease 26,USP26)序列改变是否影响精子发生还存在争议。文中对精子发生障碍患者进行USP26基因序列分析,以检验USP26基因序列改变在不育男性患者中的分布,并分析与精子发生障碍之间的关系。方法在排除染色体畸变和Y染色体微缺失的基础上,对156例无精子症和非梗阻性少精子症不育患者和86例正常生育男性对照者进行了USP26基因测序。结果USP26基因序列存在6种改变,其中g.508G>A,p.G170R仅在少精子组中发现,以前未见报道。除同义突变g.576G>A外,其他序列改变在不育组和生育组中的分布没有显著差异。结论USP26基因序列改变可能并不直接影响精子发生。 展开更多
关键词 USP26基因 基因序列改变 精子发生 多序列比对
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