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21.
Mbarka Bchetnia Jean-Pascal Allard Anne-Marie Boucher-Lafleur Tania Cruz Marino Audrey Dupéré Julie Powell Catherine McCuaig Marie-Ève Bernier Catherine Laprise 《Experimental dermatology》2020,29(10):961-969
Epidermolysis bullosa simplex (EBS) is a rare skin disease usually inherited in an autosomal dominant pattern. EBS is resulting from mutations in keratin 5 (KRT5) and keratin 14 (KRT14) genes encoding the keratins 5 and 14 proteins expressed in the keratinocytes of the basal layer of the epidermis. To date, seven pathogenic mutations have been reported to be responsible for EBS in the Canadian population from the province of Quebec: p.Pro25Leu, p.Leu150Pro, p.Met327Thr and p.Arg559X in KRT5; p.Arg125Ser, p.Ile377Thr and p.Ile412Phe in KRT14. Here, we present a novel French-Canadian patient diagnosed with EBS confined to the soles but presenting a severe complication form including blisters, hyperkeratosis, skin erosions and toenail abnormalities. Mutation screening was performed by direct sequencing of the entire coding regions of KRT5 and KRT14 genes and revealed the previously reported missense heterozygous mutation c. 1130T > C in KRT14 (p.Ile377Thr). Furthermore, this patient is carrying a second mutation in KRT5, c.413G > A (p.Gly138Glu), which has been linked to an increased risk of basal cell carcinoma in the literature. We suspect an impact of the p.Gly138Glu variant on the EBS phenotype severity of the studied patient. The pathogenicity and consequences of both genetic variations were simulated by in silico tools. 相似文献
22.
目的:观察补益营卫方对衰老表皮结构蛋白K17的基因和蛋白水平的影响。方法:将3个月龄小鼠(年轻组)与14个月龄小鼠(老年组)表皮细胞消化分离出来,然后进行传代培养,其中14个月龄小鼠(老年组)的表皮细胞分为2组,一组用常规方法培养细胞,另一组用含2.5%的补益营卫方培养基进行培养,采用荧光定量RT-PCR法和Western Blotting法分别检测细胞K17mRNA表达和细胞K17蛋白表达。结果:与年轻组比较,老年组的K17mRNA和蛋白表达水平均升高(P<0.05);经药物干预后小鼠表皮细胞中K17mRNA和蛋白水平较老年组明显降低(P<0.05)。结论:补益营卫方可通过抑制衰老表皮结构蛋白K17的表达,起到延缓皮肤衰老作用。 相似文献
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24.
To provide a convenient and practical synthesis process for metal ion doping on the surface of nanoparticles in an assembled nanostructure, core-shell-structured La-doped SrTiO3 nanocubes with a Nb-doped surface layer were synthesized via a rapid synthesis combining a rapid sol-precipitation and hydrothermal process. The La-doped SrTiO3 nanocubes were formed at room temperature by a rapid dissolution of NaOH pellets during the rapid sol-precipitation process, and the Nb-doped surface (shell) along with Nb-rich edges formed on the core nanocubes via the hydrothermal process. The formation mechanism of the core-shell-structured nanocubes and their shape evolution as a function of the Nb doping level were investigated. The synthesized core-shell-structured nanocubes could be arranged face-to-face on a SiO2/Si substrate by a slow evaporation process, and this nanostructured 10 μm thick thin film showed a smooth surface. 相似文献
25.
Yuxuan Pang Xiao-chen Bai Chuangye Yan Qi Hao Zheqin Chen Jia-Wei Wang Sjors H.W. Scheres Yigong Shi 《Genes & development》2015,29(3):277-287
Apoptosis is executed by a cascade of caspase activation. The autocatalytic activation of an initiator caspase, exemplified by caspase-9 in mammals or its ortholog, Dronc, in fruit flies, is facilitated by a multimeric adaptor complex known as the apoptosome. The underlying mechanism by which caspase-9 or Dronc is activated by the apoptosome remains unknown. Here we report the electron cryomicroscopic (cryo-EM) structure of the intact apoptosome from Drosophila melanogaster at 4.0 Å resolution. Analysis of the Drosophila apoptosome, which comprises 16 molecules of the Dark protein (Apaf-1 ortholog), reveals molecular determinants that support the assembly of the 2.5-MDa complex. In the absence of dATP or ATP, Dronc zymogen potently induces formation of the Dark apoptosome, within which Dronc is efficiently activated. At 4.1 Å resolution, the cryo-EM structure of the Dark apoptosome bound to the caspase recruitment domain (CARD) of Dronc (Dronc-CARD) reveals two stacked rings of Dronc-CARD that are sandwiched between two octameric rings of the Dark protein. The specific interactions between Dronc-CARD and both the CARD and the WD40 repeats of a nearby Dark protomer are indispensable for Dronc activation. These findings reveal important mechanistic insights into the activation of initiator caspase by the apoptosome. 相似文献
26.
患者,女,57岁。躯干部白色丘疹3年。本例皮肤镜表现独特之处在偏振光浸润模式下与典型脂溢性角化病不同,由于色素减退,皮沟与皮嵴表现为浅褐色背景下放射状分布亮白色线状条纹,呈珊瑚样结构。 相似文献
27.
目的对陕西产重楼属6个类群的遗传多样性和亲缘关系进行分析。方法采用SCoT分子标记技术和非加权平均距离法(UPGMA)对陕西产重楼属6个类群48份样品进行遗传多样性和聚类分析。结果从82条SCoT引物中共筛选出12条多态性稳定、清晰的引物,48份重楼样品共扩增出152个DNA片段,多态性片段数为135,平均每个引物扩增出12.67个DNA片段,其多态性为88.82%;重楼属植物在物种水平上具有较高的遗传多样性,Nei’s基因多样性指数(H)为0.267 4,Shannon指数(I)平均值为0.404 1,居群间遗传分化系数(Gst)为0.517 9,种群间基因流(Nm)为0.465 4;6个类群重楼按遗传多样性水平排序为七叶一枝花宽叶重楼具柄重楼狭叶重楼宽瓣重楼北重楼,聚类分析可将北重楼组和其他重楼组区分开来,当遗传距离一定时,重楼属6个类群被完全区分开来。结论 SCoT分子标记可获得多态性丰富、清晰的条带扩增图谱,表明该技术可用于陕西产重楼属主要类群物种分子鉴定和亲缘关系研究,为筛选与药典收载种类近缘的可替代资源种类、指导合理利用地方种类自然资源提供了科学依据。 相似文献
28.
目的 了解功能性构音障碍儿童智力结构的发育情况,为其认知功能的全面康复探索依据。方法 选择2017年1—7月就诊于大连市儿童医院儿童保健科确诊为功能性构音障碍儿童与正常儿童各30例,分别进行Peabody图片词汇测验和0~6岁儿童神经心理发育量表测试。比较两组的言语智商和发育总商值及大运动、精细运动、适应能力、语言和社交行为能力的发育水平。结果 功能性构音障碍儿童精细动作和适应性行为、语言能力的发育均低于正常对照组(t=5.241、4.100、3.256,P<0.05)。大运动和社交行为发展与正常对照组一致(t=1.594、2.058,P>0.05)。其自身5项能力比较,精细动作和适应性行为的发展也落后于大运动和社交能力,差异具有统计学意义(t=-2.847、-2.794、-4.268、-2.398,P<0.05)。结论 功能性构音障碍儿童存在智力结构发展的不平衡,有必要尽早对其进行发育水平的评估以利于其全面、整体的康复。 相似文献
29.
目的探讨小檗碱调节糖原代谢的机制及对糖原结构的影响。方法采用自发型糖尿病模型db/db小鼠作为疾病模型鼠,考察小檗碱对db/db小鼠血糖水平的影响;提取小鼠的肝糖原进行体积排阻色谱(SEC)和透射电镜(TEM)分析,考察小檗碱对db/db小鼠肝糖原的结构影响,并探讨其影响机制。结果小檗碱可以显著性降低db/db小鼠的空腹血糖,降低db/db小鼠血清胰岛素水平;改善db/db小鼠肝糖原的结构不稳定性;降低db/db小鼠肝组织中糖原磷酸化酶(GP)、糖原脱分支酶(GDBE)和环磷酸腺苷(cAMP)表达水平,降低血清胰高血糖素水平。结论小檗碱可以调控cAMP/GP信号通路,改善db/db小鼠的肝糖原结构,修复受损糖原结构,这可能是其调节肝糖代谢,改善糖尿病症状的机制之一。 相似文献
30.
《Journal of Pharmaceutical Analysis》2022,12(4):617-626
An innovative sandwich-structural Fe-based metal-organic framework magnetic material (Fe3O4@SW-MIL-101-NH2) was fabricated using a facile solvothermal method. The characteristic properties of the material were investigated by field emission scanning electron microscopy, transmission electron microscopy (TEM), energy-dispersive X-ray spectroscopy, Fourier transform infrared spectroscopy, X-ray powder diffraction, vibrating sample magnetometry, and Brunauer-Emmett-Teller measurements. Fe3O4@SW-MIL-101-NH2 is associated with advantages, such as robust magnetic properties, high specific surface area, and satisfactory storage stability, as well as good selective recognition ability for chlorogenic acid (CA) and its metabolites via chelation, hydrogen bonding, and π-interaction. The results of the static adsorption experiment indicated that Fe3O4@SW-MIL-101-NH2 possessed a high adsorption capacity toward CA and its isomers, cryptochlorogenic acid (CCA) and neochlorogenic acid (NCA), and the adsorption behaviors were fitted using the Langmuir adsorption isotherm model. Then, a strategy using magnetic solid-phase extraction (MSPE) and ultra-performance liquid chromatography coupled with quadrupole time-of-flight tandem mass spectrometry (UPLC-Q-TOF MS/MS) was developed and successfully employed for the selective pre-concentration and rapid identification of CA metabolites in rat plasma, urine, and feces samples. This work presents a prospective strategy for the synthesis of magnetic adsorbents and the high-efficiency pretreatment of CA metabolites. 相似文献