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排序方式: 共有525条查询结果,搜索用时 74 毫秒
81.
Szeverenyi I Cassidy AJ Chung CW Lee BT Common JE Ogg SC Chen H Sim SY Goh WL Ng KW Simpson JA Chee LL Eng GH Li B Lunny DP Chuon D Venkatesh A Khoo KH McLean WH Lim YP Lane EB 《Human mutation》2008,29(3):351-360
We describe a revised and expanded database on human intermediate filament proteins, a major component of the eukaryotic cytoskeleton. The family of 70 intermediate filament genes (including those encoding keratins, desmins, and lamins) is now known to be associated with a wide range of diverse diseases, at least 72 distinct human pathologies, including skin blistering, muscular dystrophy, cardiomyopathy, premature aging syndromes, neurodegenerative disorders, and cataract. To date, the database catalogs 1,274 manually-curated pathogenic sequence variants and 170 allelic variants in intermediate filament genes from over 459 peer-reviewed research articles. Unrelated cases were collected from all of the six sequence homology groups and the sequence variations were described at cDNA and protein levels with links to the related diseases and reference articles. The mutations and polymorphisms are presented in parallel with data on protein structure, gene, and chromosomal location and basic information on associated diseases. Detailed statistics relating to the variants records in the database are displayed by homology group, mutation type, affected domain, associated diseases, and nucleic and amino acid substitutions. Multiple sequence alignment algorithms can be run from queries to determine DNA or protein sequence conservation. Literature sources can be interrogated within the database and external links are provided to public databases. The database is freely and publicly accessible online at www.interfil.org (last accessed 13 September 2007). Users can query the database by various keywords and the search results can be downloaded. It is anticipated that the Human Intermediate Filament Database (HIFD) will provide a useful resource to study human genome variations for basic scientists, clinicians, and students alike. 相似文献
82.
《Neuro-Chirurgie》2021,67(6):579-586
BackgroundLiponeurocytoma is an uncommon tumor of the central nervous system. It is very rare for this tumor to originate within the lateral ventricle. In the context of the rarity of this tumor entity, this review article aims to summarize the clinical, radiological, and pathological features of lateral ventricular liponeurocytoma to facilitate its diagnosis and management.MethodsHere, we conduct a systematic literature review using the Pubmed, Scopus, and Cochrane Library database for all cases of lateral ventricular liponeurocytoma. A case illustration complements this review.ResultsThe described cases from 1997 onward include 14 cases that have been published in full papers in the English literature. Six additional cases are reported in short English abstracts in full non-English papers, and one case was described in a central neurocytoma report. There is a definite male predominance of 70% (14 male) and a mean age of 37 years (range 24–62). Heterogenous enhancement and signals in magnetic resonant images (MRI) are the radiological characteristics. In all reported cases, the presence of lipocytes and fat vacuoles is considered the paramount histopathological feature. Total surgical resection was achieved in 80% (12 out of 15) of the cases. Only two cases (including ours) received radiation therapy. Recurrence was seen in two patients during follow-up that was treated by radiation therapy in one and surgery in the other. The proliferation index is mostly below 5% in all cases, with the Ki-67 range between < 1% to 10%.ConclusionsLateral ventricular liponeurocytoma has been treated effectively by surgical resection in a limited number of cases. The decision for radiation therapy is based on a high proliferation index and tumor recurrence. 相似文献
83.
目的: 探讨血清神经丝轻链蛋白(neurofilament light chain protein,NFL)是否可以作为预测阿尔茨海默病(Alzheimer''s disease,AD)早期的外周血生物标志物。 方法: 纳入新疆医科大学附属中医医院阿尔茨海默病临床数据库的AD患者50例,遗忘型轻度认知功能障碍(amnestic mild cognitive impairment,aMCI)患者50例,以及选择同一时间段内按年龄、文化程度相匹配的健康对照者(cognitively normal,CN)50例,受试者均采集血清,采用酶联免疫吸附试验(enzyme linked immunosorbent assay,ELISA)检测血清NFL水平。 结果: ①AD、aMCI与CN患者的年龄、教育年限、体质指数(body mass index,BMI)比较均无统计学差异(P>0.05),资料具有可比性。②AD患者简易精神状态检查量表(mini-mental state examination,MMSE)、蒙特利尔认知评估量表(Montreal cognitive assessment,MoCA)评分显著低于aMCI组和CN组[AD组(17.48±7.50),aMCI组(25.56±1.63),CN组(28.60±1.09);F=81.830,P=0.000],MoCA评分差异最明显[AD组(12.04±6.31),aMCI组(19.92±3.17),CN组(27.62±1.16);F=177.187,P=0.000]。③血清NFL水平[AD组(4.486±2.463)ng/mL,aMCI组(5.101±2.172)ng/mL,CN组(2.885±1.469)ng/mL,F=15.167,P=0.000],AD组和aMCI组NFL水平显著高于CN组,其中aMCI组最高,3组间比较具有统计学差异;应用Spearman相关性分析发现3组间年龄、MMSE评分、MoCA评分、日常生活能力量表评分(activity of dai1y living scale,ADL)、临床痴呆评定量表(clinical dementia rating,CDR)评分与NFL水平没有相关性(P>0.05)。 结论: 轻度认知功能障碍患者血清NFL水平最高,提示血清NFL也许是预测阿尔茨海默病早期的外周血生物标志物。 相似文献
84.
Hong-Phuc Cudré-Cung Noémie Remacle Sonia do Vale-Pereira Mary Gonzalez Hugues Henry Julijana Ivanisevic Jessica Schmiesing Chris Mühlhausen Olivier Braissant Diana Ballhausen 《Molecular genetics and metabolism》2019,126(4):416-428
Glutaric Aciduria type I (GA-I) is caused by mutations in the GCDH gene. Its deficiency results in accumulation of the key metabolites glutaric acid (GA) and 3-hydroxyglutaric acid (3-OHGA) in body tissues and fluids. Present knowledge on the neuropathogenesis of GA-I suggests that GA and 3-OHGA have toxic properties on the developing brain.We analyzed morphological and biochemical features of 3D brain cell aggregates issued from Gcdh?/? mice at two different developmental stages, day-in-vitro (DIV) 8 and 14, corresponding to the neonatal period and early childhood. We also induced a metabolic stress by exposing the aggregates to 10 mM l-lysine (Lys).Significant amounts of GA and 3-OHGA were detected in Gcdh?/? aggregates and their culture media. Ammonium was significantly increased in culture media of Gcdh?/? aggregates at the early developmental stage. Concentrations of GA, 3-OHGA and ammonium increased significantly after exposure to Lys. Gcdh?/? aggregates manifested morphological alterations of all brain cell types at DIV 8 while at DIV 14 they were only visible after exposure to Lys. Several chemokine levels were significantly decreased in culture media of Gcdh?/? aggregates at DIV 14 and after exposure to Lys at DIV 8.This new in vitro model for brain damage in GA-I mimics well in vivo conditions. As seen previously in WT aggregates exposed to 3-OHGA, we confirmed a significant ammonium production by immature Gcdh?/? brain cells. We described for the first time a decrease of chemokines in Gcdh?/? culture media which might contribute to brain cell injury in GA-I. 相似文献
85.
T. James D. Matzelle R. Bartus E.L. Hogan N.L. Banik 《Journal of neuroscience research》1998,51(2):218-222
We have determined the effects of the calpain inhibitors AK275 and AK295 upon purified m-calpain and calcium-mediated degradation of neurofilament protein (NFP) in rat spinal cord in vitro. After incubation, the soluble radioactivity and/or extent of myelin basic protein (MBP) or NFP degradation was determined. Fifty percent of caseinolytic activity was inhibited by both inhibitors at 0.6 μM concentration, while more than 90% inhibition was seen at 1.6 μM. In contrast, 37% and 64% inhibition of MBP degradation was seen with AK295 and AK275, respectively, at 10 μM concentration. The extent of NFP degradation in spinal cord was quantified from immunoblot enhanced chemiluminescence. The calcium-mediated breakdown of NFP was inhibited by both AK275 and AK295, and the inhibition was dose-dependent. A 50% inhibition of NFP degradation was seen with AK295 at 10 μM and was almost completely inhibited at 25–50 μM. AK295 was slightly more potent than AK275. These studies suggest that these potent calpain inhibitors may be used therapeutically to provide neuroprotection in vivo in experimental central nervous system trauma and ischemia. J. Neurosci. Res. 51:218–222, 1998. © 1998 Wiley-Liss, Inc. 相似文献
86.
87.
Angelo Quattrini Stefano Previtali Maria Laura Feltri Nicola Canal Raffaello Nemni Lawrence Wrabetz 《Glia》1996,17(4):294-306
Schwann cell gene expression is dynamically regulated after peripheral nerve injury and during regeneration. We hypothesized that the changes in protein expression described after rat peripheral nerve injury could be used to identify single Schwann cell-axon units in human axonal neuropathy. Therefore, we performed immunofluorescence staining on sections of injured rat sciatic nerves compared with sections of neuropathic human sural nerves. We chose the markers β4 integrin, P0 glycoprotein, and glial fibrillary acidic protein (GFAP) to characterize Schwann cells, and neurofilament-heavy (NF-H) to recognize axons. Normal rat or human myelin-forming units demonstrated a sharp ring of β4 staining at their outer surface, P0 staining in the myelin sheath, and NF-H staining in the axon. Acutely denervated rat units transited from broken rings of β4 and P0 staining, to diffuse β4 and absent P0 and NF-H staining. Chronically denervated rat Schwann cells re-expressed β4 more highly, but in a diffuse, non-polarized pattern. In contrast, regenerating units re-expressed β4, P0, and NF-H; β4 staining was polarized to the outer surface of Schwann cells. Finally, GFAP staining increased progressively after injury and decreased during regeneration in the distal nerve stump. In neuropathic human sural nerves, we identified units exhibiting each of these β4, P0, and NF-H staining patterns; the proportion of each pattern correlated best with the extent and chronicity of axonal injury. Thus, synchronous injury of rat sciatic nerve predicts patterns of Schwann cell marker expression in human axonal neuropathy. In addition, the unique changes in the polarity of β4 integrin expression, in combination with changes in P0 and NF-H expression, may distinguish normal from denervated or reinnervated myelin-forming Schwann cells in human sural nerve biopsies. © 1996 Wiley-Liss, Inc. 相似文献
88.
89.
Plasma and cerebrospinal fluid tau and neurofilament concentrations in rapidly progressive neurological syndromes: a neuropathology‐based cohort 下载免费PDF全文
90.
目的探讨脊髓薄片器官型培养的方法及其腹角α运动神经元、背角中间神经元的鉴别.方法利用出生8d乳鼠的腰段脊髓组织切片建立脊髓器官型培养模型,并用神经元的特异性SMI-32和Calretinin单克隆抗体进行免疫组化染色,对脊髓腹角α运动神经元和背角中间神经元加以鉴定,测定培养液中乳酸脱氢酶(LDH)的含量.结果脊髓片在体外生长良好,形态完整,α运动神经元和背角中间神经元的数目及各时点培养液中LDH含量恒定,脊髓片可存活2个月以上.结论脊髓的器官培养技术为研究脊髓生理、病理改变及神经保护提供了有效的方法. 相似文献