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Kuvbachieva A Bestel AM Tissir F Maloum I Guimiot F Ramoz N Bourgeois F Moalic JM Goffinet AM Simonneau M 《The European journal of neuroscience》2004,20(3):603-610
We carried out a screening of genes that are differentially expressed in normal mice and reeler mutants and are characterized by abnormal neuronal migration and neurite deployment due to defective Reelin signalling. A novel gene, provisionally named C61, was overexpressed in Reelin-deficient embryonic mouse brain RNA. C61 encodes a 3.7 kb mRNA that is brain specific and developmentally regulated, with predominant expression in differentiating neurons. The predicted protein is 664 amino acids long, and contains LAG1 and Ezrin/Radixin/Moesin-Myosin-Filament motifs, suggesting that it may function as an intracellular adaptor. From E14.5 to birth, C61 was highly expressed in all neuronal differentiation fields, with the highest signal in the telencephalic cortical plate and mitral cells in the olfactory bulb. When expressed as a GFP fusion protein in transfected non-neuronal cells and primary neurons, this protein localizes, respectively, to the nuclear membrane or axonal outgrowths, indicating a function in axonal traffic or signalling. 相似文献
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Kvajo M McKellar H Drew LJ Lepagnol-Bestel AM Xiao L Levy RJ Blazeski R Arguello PA Lacefield CO Mason CA Simonneau M O'Donnell JM MacDermott AB Karayiorgou M Gogos JA 《Proceedings of the National Academy of Sciences of the United States of America》2011,108(49):E1349-E1358
Carefully designed animal models of genetic risk factors are likely to aid our understanding of the pathogenesis of schizophrenia. Here, we study a mouse strain with a truncating lesion in the endogenous Disc1 ortholog designed to model the effects of a schizophrenia-predisposing mutation and offer a detailed account of the consequences that this mutation has on the development and function of a hippocampal circuit. We uncover widespread and cumulative cytoarchitectural alterations in the dentate gyrus during neonatal and adult neurogenesis, which include errors in axonal targeting and are accompanied by changes in short-term plasticity at the mossy fiber/CA3 circuit. We also provide evidence that cAMP levels are elevated as a result of the Disc1 mutation, leading to altered axonal targeting and dendritic growth. The identified structural alterations are, for the most part, not consistent with the growth-promoting and premature maturation effects inferred from previous RNAi-based Disc1 knockdown. Our results provide support to the notion that modest disturbances of neuronal connectivity and accompanying deficits in short-term synaptic dynamics is a general feature of schizophrenia-predisposing mutations. 相似文献
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Manon Philibert Aude-Marie Grapperon Emilien Delmont Shahram Attarian 《Clinical neurophysiology》2017,128(1):235-240
Objective
To determine whether motor unit number index (MUNIX) is pertinent to monitor the effect of intravenous immunoglobulins (IVIg) in multifocal motor neuropathy (MMN).Methods
MUNIX was assessed longitudinally in 7 MMN patients and 17 healthy controls in the abductor pollicis brevis (APB) and abductor digiti minimi (ADM) muscles. A MUNIX sum-score and a compound muscle action potential (CMAP) sum-score were calculated by summing up the scores of APB and ADM. MMN patients were evaluated on the first day of IVIg infusion, 5 MMN patients were evaluated 22 days after IVIg infusion, and 3 MMN patients were evaluated 1 month after two IVIg infusions.Results
Intraclass correlation coefficient of the MUNIX sum-score in healthy controls was 0.85, showing good test–retest reproducibility. MUNIX and CMAP sum-scores were lower in MMN patients than in healthy controls (p < 0.01 and 0.02, respectively). MUNIX sum-score improved in three of the five patients 22 days after IVIg infusion and in two of the three patients 1 month after 2 IVIg infusions, whereas CMAP sum-score improved in only one patient in both evaluations.Conclusions
In this preliminary study, MUNIX seems to be a reliable and sensitive tool to monitor the short-term efficiency of IVIg in MMN.Significance
MUNIX can help monitor IVIg treatment in MMN. 相似文献7.
Judith Passildas Olivier Collard Aude-Marie Savoye Joyce Dohou Angeline Ginzac Emilie Thivat Xavier Durando Fabrice Kwiatkowski Frédérique Penault-Llorca Catherine Abrial Marie-Ange Mouret-Reynier 《Clinical breast cancer》2019,19(1):e74-e84
Background
Young patients with breast cancer treated with chemotherapy can experience ovarian failure, which can lead to chemotherapy-induced menopause (CIM) impacting the quality of life (QoL). A prospective study was set out to evaluate the impact of CIM on QoL in women of childbearing age with non-metastatic breast cancer, and this article reports results of the interim analysis conducted to evaluate feasibility and to see preliminary results.Patients and Methods
A total of 58 women (age, 18-46 years) with newly diagnosed breast cancer and treated with chemotherapy were eligible. QoL was assessed by self-administered questionnaires (Quality of Life Questionnaire-Core 30 [QLQ-C30], Quality of Life Questionnaire-Breast 23 [QLQ-BR23], and Kupperman index) and hormonal variations (anti-Müllerian hormone [AMH], follicle-stimulating hormone, and estradiol) were explored. We compared patients with ≥ 12 months amenorrhea (CIM) (n = 41) to patients with < 12 months of amenorrhea (non-CIM) (n = 17).Results
A good inclusion rate (approximately 4/month) and sufficient data enabled us to perform this analysis. QLQ-C30 failed to show any difference between CIM and non-CIM patients (P = .5). In contrast, at 6 months post-chemotherapy, CIM patients tended to have lower QoL as shown by QLQ-BR23 (P = .16) and more severe climacteric symptoms (P = .01). Regarding hormonal variations, AMH pre-treatment level was higher in non-CIM patients (P = .0032). We also noted that CIM patients were older (P = .00013), had shorter menstruation cycle (P = .082), and experienced faster amenorrhea (P = .088).Conclusions
The study is technically feasible, and our preliminary results underline that age in association with pre-treatment AMH level could be helpful to predict ovarian function. QLQ-BR23 seemed to be stronger, more precise, and appropriate to evaluate QoL changes in patients with breast cancer than the QLQ-C30. 相似文献8.
A.-M. Foucaut S. E. Berthouze-Aranda M. Touillaud A.-S. Kempf-Lépine C. Baudinet R. Meyrand J. Carretier P. Bachmann B. Fervers 《Supportive care in cancer》2014,22(4):1097-1104
Purpose
After a breast cancer diagnosis, patients are at high risk of reducing their physical activity and gaining weight. Lack of physical activity and weight gain are known negative but modifiable prognostic factors. An observational study of a 3-month adapted physical activity (APA) program was performed to assess its effectiveness in improving physical activity level and reducing risk factors related to health during or after breast cancer treatments.Method
Height, weight, and waist circumference (WC) were measured at the beginning and end of the 26-session program. Body mass index (BMI) and WC to height ratio (WHtR) were calculated. Physical activity profile, aerobic capacity, and usual average daily energy expenditure were estimated. Median values were compared using nonparametric tests.Results
Sixty-one (61) voluntary breast cancer patients attended 80 % of the sessions. At baseline, median (minimum–maximum) BMI was 23.3 (16.1–36.8)?kg.m?2 and WC and WHtR showed metabolic risks. After 3 months, anthropometric data remained stable. Moderate physical activity significantly improved (+13 min/day) and sedentary tended to decrease (?18 min/day).Conclusion
A 3-month APA program allows patients to limit risk factors related to health such as physical inactivity and metabolic risks. This study reinforces the need to promote physical activity as early as possible in cancer patients' care. 相似文献9.
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