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| 1 | 海南汉族、黎族人葡萄糖-6-磷酸脱氢酶缺乏症的基因突变型分析及一种新的G6PD基因突变型的鉴定显示文摘目的 阐明海南汉族、黎族人群中葡萄糖 - 6 -磷酸脱氢酶缺乏症的分子基础。方法 用聚合酶链反应、限制性内切酶消化筛查了 1388G→ A、136 0 C→ T、10 2 4C→ T、5 92 C→ T、5 17T→ C、493A→ G、487G→ A、392 G→ T和 95 A→ G突变 ;用单链构象多态性分析筛查其它突变 ;用核苷酸顺序分析鉴定具有SSCP异常区带样品的突变。结果 在 5 9例汉族 G6 PD缺乏症患者中 ,发现 1388G→ A 14例 (2 3.7% )、871G→ A 3例 (5 .1% )、835 A→ T 1例 (1.7% )、5 17T→ C 1例 (1.7% )、392 G→ T 3例 (5 .1% )和 95 A→ G 4例 (6 .8% ) ;在 32例黎族 G6 PD缺乏症患者中 ,发现 1388G→ A6例 (18.8% )、871G→ A3例 (9.4% )和95 A→ G2例 (6 .3% ) ;在 1例汉族患者中发现了一种新的 G6 PD基因突变—— 835 A→ G突变 ,此突变导致第 2 79位的苏氨酸被丙氨酸取代 ,将此突变型命名为 G6 PD-海口 ,其酶活性约是正常的 10 % ,比 835 A→ T突变的活性低 ,后者的酶活性约是正常的 40 %。分析人 G6 PD的三维结构模型表明 ,第 2 79位苏氨酸残基的羟基是维持 G6 PD亚基相互作用的基团。结论 海南汉族、黎族人群中具有共同的常见 G6 PD基因突变型 ;与中国其它地区人群的 G6 PD基因突变谱比较 ,结果表明某些 G6 PD基因突变广? | 蔡望伟 Stefania Filosa Giuseppe Martini 周玉英 周代锋 蔡兰洁 邝宇 | 2001 | 中华医学遗传学杂志2001，18，2： | 24 |
| 2 | Polyphenols-gut microbiota interplay and brain neuromodulation显示文摘Increasing evidence suggests that food ingested polyphenols can have beneficial effects in neuronal protection acting against oxidative stress and inflammatory injury. Moreover, polyphenols have been reported to promote cognitive functions. Biotransformation of polyphenols is needed to obtain metabolites active in brain and it occurs through their processing by gut microbiota. Polyphenols metabolites could directly act as neurotransmitters crossing the blood-brain barrier or indirectly by modulating the cerebrovascular system. The microbiota-gut-brain axis is considered a neuroendocrine system that acts bidirectionally and plays an important role in stress responses. The metabolites produced by microbiota metabolism can modulate gut bacterial composition and brain biochemistry acting as neurotransmitters in the central nervous system. Gut microbiota composition can be influenced by dietary ingestion of natural bioactive molecules such as probiotics, prebiotics and polyphenol. Microbiota composition can be altered by dietary changes and gastrointestinal dysfunctions are observed in neurodegenerative diseases. In addition, several pieces of evidence support the idea that alterations in gut microbiota and enteric neuroimmune system could contribute to onset and progression of these age-related disorders. The impact of polyphenols on microbiota composition strengthens the idea that maintaining a healthy microbiome by modulating diet is essential for having a healthy brain across the lifespan. Moreover, it is emerging that they could be used as novel therapeutics to prevent brain from neurodegeneration. | Stefania Filosa Francesco Di Meo Stefania Crispi | 2018 | Neural Regeneration Research2018，13，12： | 5 |
| 3 | Order from Chaos: Self-Assembly of Nanoprism from a Mixture of Tetratopic Terpyridine-Porphyrin Conformers显示文摘Background and Originality Content Porphyrins are a vibrant class of organic dyes found widely in nature,ranging from the well-studied chlorophyll and heme found in the cells of plants and red blooded animals to the less known chlorocruoroporphyrin found in annelids. | Alexander Filosa Heng Wang Wei-Jian Li Wenjing Zhang Ellie Ngo Jonathan EPiccolo Hai-Bo Yang Xiaopeng Li | 2019 | Chinese Journal of Chemistry2019，37，11： | 3 |
| 4 | 海南汉族、黎族人群葡萄糖-6-磷酸脱氢酶基因的1376G→T突变显示文摘目的 了解海南汉族、黎族人群 G6 PD缺乏症患者的 G6 PD基因 1376 G→T突变。方法 用盐提取法提取 G6 PD缺乏症患者白细胞的 DNA,用等位基因特异聚合酶链反应检测 1376 G→ T突变。结果在分析的 5 9例汉族患者和 32例黎族患者中 ,19例汉族患者和 18例黎族患者有 G6 PD基因 1376 G→ T突变 ,该突变在汉族、黎族患者中所占的比例分别为 32 .2 %和 5 6 .2 %。结论 G6 PD基因 1376 G→T是引起海南黎族、汉族人 G6 PD缺乏症的主要突变之一 ;根据中国不同民族的聚类分析图 ,该结果提示 1376 G→ T突变可能在黎族人形成之前已经出现。研究不同民族的 G6 PD基因突变 ,对于阐明各民族的起源、迁移。 | 蔡望伟 蔡兰洁 周代锋 邝宇 周玉英 Filosa Stefania Martini Giuseppe | 2000 | 中华医学遗传学杂志2000，17，5： | 3 |
| 5 | 一种新的G6PD基因突变型的鉴定显示文摘目的:鉴定1例葡萄糖-6-磷酸脱氢酶缺乏症患者的基因突变。方法:用聚合酶链反应、限制性内切酶筛查葡萄糖-6-磷酸酶基因1388G→A、1376G→T、1360C→T、1024C→T、592C→T、517T→C、493A→G,487G→A、392G→T、95A→G突变,用单链构象多态性筛查葡萄糖-6-磷酸脱氢酶基因的所有外显子,用核苷酸序列测定确定基因突变。结果:该患者未存在1388G→A、1376G→T、1360C→T、1024C→T、592C→T、517T→C、493A→G、487G→A、392G→T、95A→G突变,但在外显子8发现了一种新的G6PD基因突变———835A→G突变,此突变导致第279位的苏氨酸被丙氨酸取代,将其命名为G6PD-海口,其酶活性约是正常的10%,比835A→T突变型的活性低,后者的酶活性约是正常的40%;分析人G6PD的三维结构模型表明,第279位苏氨酸残基的羟基对于维持G6PD亚基的相互作用具有非常重要的作用。结论:835A→G突变是一种新的G6PD基因突变型,G6PD的第279位苏氨酸残基的羟基是维持G6PD亚基相互作用及酶活性的必需基团。 | 蔡望伟 周代锋 蔡兰洁 邝宇 周玉英 Filosa Stefania Martini Giuseppe | 2003 | 海南医学院学报2003，9，1： | 2 |
| 6 | Immunohistochemical analysis of vascular endothelial growth factor cellular expression in ovarian endometri omata显示文摘 | Goteri G Lucarini G Filosa A | 2004 | Fertil Steril2004，81，6： | 1 |
| 7 | lmmunohist(whemi- eal analysis of vascular endothelial growth factor cellular expression in ovarian endometriomata显示文摘 | GOTERI G LUCARINI G FILOSA A | | Fertil Steril0，81，6： | 1 |
| 8 | Control of embryonic stem cell metastability by L-proline catabolism显示文摘The molecular mechanisms controlling mouse embryonic stem cell(ESC)metastability,i.e.their capacity to fluctuate between different states of pluripotency,are not fully resolved.We developed and used a novel automation platform,the Cellmaker,to screen a library of metabolites on two ESC-based phenotypic assays(i.e.proliferation and colony phenotype)and identified two metabolically related amino acids,namely L-proline(L-Pro)and L-ornithine(L-Orn),as key regulators of ESC metastability.Both compounds,but mainly L-Pro,force ESCs toward a novel epiblast stem cell(EpiSC)-like state,in a dose-and time-dependent manner.Unlike EpiSCs,L-Pro-induced cells(PiCs)contribute to chimeric embryos and rely on leukemia inhibitor factor(LIF)to self-renew.Furthermore,PiCs revert to ESCs or differentiate randomly upon removal of either L-Pro or LIF,respectively.Remarkably,PiC generation depends on both L-Pro metabolism(uptake and oxidation)and Fgf5 induction,and is strongly counteracted by antioxidants,mainly L-ascorbic acid(vitamin C,Vc).ESCs↔PiCs phenotypic transition thus represents a previously undefined dynamic equilibrium between pluripotent states,which can be unbalanced either toward an EpiSC-like or an ESC phenotype by L-Pro/L-Orn or Vc treatments,respectively.All together,our data provide evidence that ESC metastability can be regulated at a metabolic level. | Laura Casalino Stefania Comes Giuseppina Lambazzi Benedetta De Stefano Stefania Filosa Sandro De Falco Dario De Cesare Gabriella Minchiotti Eduardo Jorge Patriarca | 2011 | Journal of Molecular Cell Biology2011，3，2： | 1 |
| 9 | Immunohistochemical analysis of vascular endothelial growth factor cellular expression in ovarian endometriomata 显示文摘 | Goteri G Lucarini G Filosa A | 2004 | Fertile steril2004，81，6： | 1 |
| 10 | Neuron-glia communication via Eph A4/ephrin-A3modulates LTP through glial glutamate transport显示文摘 | Filosa A Paixao S Honsek SD | 2009 | Nat Neurosci2009，12，： | 1 |
| 11 | Cadmium-induced teratogenicity in lizard embryos: Correlation with metallothionein gene expression显示文摘 | Palma Simoniello Chiara Maria Motta Rosaria Scudiero Francesca Trinchella Silvana Filosa | 2010 | Comparative Biochemistry and Physiology Part C2010，，1： | 1 |
| 12 | Local potassium signaling couples neuronal activity to vasodilation in the brain显示文摘 | Filosa JA Bonev AD0 Straub SV | 2006 | Nat Neurosci2006，9，11： | 1 |
| 13 | Urticaria as a presentingmanifestation of adult - onset Still’s disease显示文摘 | Salaffi F Filosa G Bugatti L | 2000 | Clin Rheuma-tol2000，19，5： | 1 |
| 14 | Neridronate improves bone mineral density and reduces back pain in β-thalassaemia patients with osteoporosis:results from a phase 2,randomized,parallel-arm,open-label study显示文摘 | Forni GL Perrotta S Giusti A Quarta G Pitrolo L Cappellini MD D'Ascola DG Borgna Pignatti C Rigano P Filosa A Iolascon G Nobili B Baldini M Rosa A Pinto V Palummeri E | | 0，，： | 1 |
| 15 | Urticaria as a presenting manifestation of adult-onset still's disease 显示文摘 | Salaffi F Filosa G Bugatti L | 2000 | Clin Rheumatol2000，19，5： | 1 |
| 16 | hnmunohistochemical analysis of vascular endothelial growth factor cellular expression in ovarian endometriomata显示文摘 | Goteri G Lucarini G Filosa A el al | 2004 | Fertil Steril2004，81，6： | 1 |
| 17 | Proteins immunoreactive with antibody against a human leptin fragment are found in serum and tissues of the sea lamprey, Petromyzon marinus L显示文摘 | Yaghoubian S Filosa M F Youson J H | 2001 | Comp Biochem Physiol B2001，，129： | 1 |
| 18 | Immunohistochemical analysis of vascular endothelial growth factor cellular expression in ovarian endometriomata显示文摘 | Goteri G Lucarini G Filosa A | 2004 | Fertil Steril2004，81，6： | 1 |
| 19 | Longitudinal monitoring of bone mineral density in thalassemic patients: Genetic structure and osteoporsis 显示文摘 | Filosa A Di Maio S Vocca S | 1997 | Acta Paediatr1997，86，： | 1 |
| 20 | Dermoscopic observation of Bowen's disease显示文摘 | Bugatti L Filosa G De Angelis R | 2004 | J Eur Acad Dermatol Venereol2004，18，5： | 1 |
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