| Records |
| Author |
Li, M.; Zhao, H.; Ananiev, G.E.; Musser, M.T.; Ness, K.H.; Maglaque, D.L.; Saha, K.; Bhattacharyya, A.; Zhao, X. |
| Title |
Establishment of Reporter Lines for Detecting Fragile X Mental Retardation (FMR1) Gene Reactivation in Human Neural Cells |
Type |
Journal Article |
| Year |
2017 |
Publication |
Stem Cells (Dayton, Ohio) |
Abbreviated Journal |
Stem Cells |
| Volume |
35 |
Issue |
1 |
Pages |
158-169 |
Keywords  |
Drug discovery; Fmr1; Fmrp; Fragile X syndrome; High throughput; Induced pluripotent stem cells; Luciferase |
| Abstract |
Human patient-derived induced pluripotent stem cells (hiPSCs) provide unique opportunities for disease modeling and drug development. However, adapting hiPSCs or their differentiated progenies to high throughput assays for phenotyping or drug screening has been challenging. Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and a major genetic cause of autism. FXS is caused by mutational trinucleotide expansion in the FMR1 gene leading to hypermethylation and gene silencing. One potential therapeutic strategy is to reactivate the silenced FMR1 gene, which has been attempted using both candidate chemicals and cell-based screening. However, molecules that effectively reactivate the silenced FMR1 gene are yet to be identified; therefore, a high throughput unbiased screen is needed. Here we demonstrate the creation of a robust FMR1-Nluc reporter hiPSC line by knocking in a Nano luciferase (Nluc) gene into the endogenous human FMR1 gene using the CRISPR/Cas9 genome editing method. We confirmed that luciferase activities faithfully report FMR1 gene expression levels and showed that neural progenitor cells derived from this line could be optimized for high throughput screening. The FMR1-Nluc reporter line is a good resource for drug screening as well as for testing potential genetic reactivation strategies. In addition, our data provide valuable information for the generation of knockin human iPSC reporter lines for disease modeling, drug screening, and mechanistic studies. Stem Cells 2017;35:158-169. |
| Address |
Department of Neuroscience, University of Wisconsin-Madison, Madison, Wisconsin, USA |
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| Language |
English |
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Edition |
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| ISSN |
1066-5099 |
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| Notes |
PMID:27422057 |
Approved |
no |
| Call Number |
ref @ user @ |
Serial |
95937 |
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| Author |
Vershkov, D.; Benvenisty, N. |
| Title |
Human pluripotent stem cells in modeling human disorders: the case of fragile X syndrome |
Type |
Journal Article |
| Year |
2017 |
Publication |
Regenerative Medicine |
Abbreviated Journal |
Regen Med |
| Volume |
12 |
Issue |
1 |
Pages |
53-68 |
| Keywords |
disease modeling; drug discovery; embryonic stem cells; fragile X syndrome; human pluripotent stem cells; neural differentiation |
| Abstract |
Human pluripotent stem cells (PSCs) generated from affected blastocysts or from patient-derived somatic cells are an emerging platform for disease modeling and drug discovery. Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, was one of the first disorders modeled in both embryonic stem cells and induced PCSs and can serve as an exemplary case for the utilization of human PSCs in the study of human diseases. Over the past decade, FXS-PSCs have been used to address the fundamental questions regarding the pathophysiology of FXS. In this review we summarize the methodologies for generation of FXS-PSCs, discuss their advantages and disadvantages compared with existing modeling systems and describe their utilization in the study of FXS pathogenesis and in the development of targeted treatment. |
| Address |
The Azrieli Center for Stem Cells & Genetic Research, Department of Genetics, Silberman Institute of Life Sciences, The Hebrew University, Jerusalem 91904, Israel |
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English |
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| ISSN |
1746-0751 |
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| Notes |
PMID:27900874 |
Approved |
no |
| Call Number |
ref @ user @ |
Serial |
95909 |
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| Author |
Jimenez, M.M.; Arias, J.; Carrasquilla, G. |
| Title |
Seroprevalence of dengue infection in the municipalities of Armenia, Calarca, La Tebaida and Montenegro in Quindio, 2014 |
Type |
Journal Article |
| Year |
2017 |
Publication |
Biomedica : Revista del Instituto Nacional de Salud |
Abbreviated Journal |
Biomedica |
| Volume |
37 |
Issue |
1 |
Pages |
34-41 |
| Keywords |
Dengue/epidemiology; immunoglobulin G; immunoglobulin M; prevalence; public health, Colombia |
| Abstract |
INTRODUCTION: Dengue is a serious public health problem in Colombia; it is prevalent in 90% of the municipalities in Quindio. Studies on its seroprevalence are required to address public health interventions. OBJECTIVE: To establish the seroprevalence of dengue infection in neighborhoods with high incidence in the municipalities of Armenia, Calarca, La Tebaida and Montenegro, Quindio, in 2014. MATERIALS AND METHODS: We conducted a probabilistic, stratified, two-stage prevalence study. We interviewed 658 residents in the urban area of the selected municipalities. After they signed the informed consent, we took a blood sample to determine dengue IgG and IgM antibodies. RESULTS: Seroprevalence of IgG in Quindio was 89,4%; in Armenia it was 88,7%, in Calarca, 81,5%, in Montenegro, 91,8% and in La Tebaida 97,8%. IgM was 14, 2% in Quindio; in Armenia it was 11,5%, in Calarca, 13,0%, in Montenegro, 13,1% and in La Tebaida, 28,9%. CONCLUSIONS: We found a high prevalence of both IgG and IgM in the four municipalities. We had positive results for IgM in all age groups, which suggests recent infection. We also found simultaneous seropositivity for IgG and IgM (12.9%), which may indicate infection by another serotype or presence of infection in the past three months. A multisectoral approach is necessary for dengue control in Quindio. |
| Address |
Eje de Salud Publica, Fundacion Santa Fe de Bogota, Bogota, D.C., Colombia. monica.jimenez@fsfb.org.co |
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English |
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Edition |
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| ISSN |
0120-4157 |
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Conference |
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| Notes |
PMID:28527246 |
Approved |
no |
| Call Number |
ref @ user @ |
Serial |
97637 |
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| Author |
Vidaurre, T.; Santos, C.; Gomez, H.; Sarria, G.; Amorin, E.; Lopez, M.; Regalado, R.; Manrique, J.; Tarco, D.; Ayestas, C.; Calderon, M.; Mas, L.; Neciosup, S.; Salazar, M.; Chavez, J.C.; Ubillus, M.; Limache, A.; Ubillus, J.C.; Navarro, J.; Sarwal, K.; Sutcliffe, S.; Gutierrez-Aguado, A.; Silva, M.; Mena, A.; Guillen, M.E.; Castaneda, C.; Abugattas, J. |
| Title |
The implementation of the Plan Esperanza and response to the imPACT Review |
Type |
Journal Article |
| Year |
2017 |
Publication |
The Lancet. Oncology |
Abbreviated Journal |
Lancet Oncol |
| Volume |
18 |
Issue |
10 |
Pages |
e595-e606 |
| Keywords |
Delivery of Health Care/organization & administration; Developing Countries; Early Detection of Cancer/*economics; Female; Health Care Costs; *Health Expenditures; Health Planning/*organization & administration; Humans; Male; Needs Assessment; Peru; Poverty; Preventive Medicine/*organization & administration; Risk Assessment |
| Abstract |
Following the implementation of the National Cancer Prevention and Control Results-based Budget Programme (PpR Cancer-024) in 2011, the Peruvian Government approved the Plan Esperanza-a population-based national cancer control plan-in 2012. Legislation that ensured full government-supported funding for people who were otherwise unable to access or afford care and treatment accompanied the Plan. In 2013, the Ministry of Health requested an integrated mission of the Programme of Action for Cancer Therapy (imPACT) report to strengthen cancer control in Peru. The imPACT Review, which was executed in 2014, assessed Peru's achievements in cancer control, and areas for improvement, including cancer control planning, further development of population-based cancer registration, increased prevention, early diagnosis, treatment and palliative care, and the engagement and participation of civil society in the health-care system. This Series paper gives a brief history of the development of the Plan Esperanza, describes the innovative funding model that supports it, and summarises how funds are disseminated on the basis of disease, geography, and demographics. An overview of the imPACT Review, and the government's response in the context of the Plan Esperanza, is provided. The development and execution of the Plan Esperanza and the execution of and response to the imPACT Review demonstrates the Peruvian Government's commitment to fighting cancer across the country, including in remote and urban areas. |
| Address |
National Institute of Neoplastic Diseases, Lima, Peru |
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English |
Summary Language |
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Series Issue |
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Edition |
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| ISSN |
1470-2045 |
ISBN |
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Expedition |
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Conference |
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| Notes |
PMID:28971826 |
Approved |
no |
| Call Number |
ref @ user @ |
Serial |
97626 |
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| Author |
Villagra, P.; Quintana, C. |
| Title |
Disaster Governance for Community Resilience in Coastal Towns: Chilean Case Studies |
Type |
Journal Article |
| Year |
2017 |
Publication |
International Journal of Environmental Research and Public Health |
Abbreviated Journal |
Int J Environ Res Public Health |
| Volume |
14 |
Issue |
9 |
Pages |
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| Keywords |
community resilience; disaster governance; tsunami |
| Abstract |
This study aimed to further our understanding of a characteristic of Community Resilience known as Disaster Governance. Three attributes of Disaster Governance-redundancy, diversity, and overlap-were studied in four coastal towns in southern Chile that are at risk of tsunamis. Overall, we explored how different spatial structures of human settlements influence Disaster Governance. Using the Projective Mapping Technique, the distribution of emergency institutions (N = 32) and uses given to specific sites (e.g., for refuge, sanitary purposes and medical attention) were mapped. Content and GIS analyses (Directional Distribution and Kernel Density Index) were used to explore the dispersion and concentration of institutions and uses in each town. Disaster Governance was found to be highly influenced by decisions taken during regional, urban, and emergency planning. Governance is better in towns of higher order in the communal hierarchical structure. Most of the emergency institutions were found to be located in central and urban areas, which, in turn, assures more redundancy, overlap, and diversity in governance in the event of a tsunami. Lack of flexibility of emergency plans also limits governance in rural and indigenous areas. While the spatial relationships found in this study indicate that urban sectors have better Disaster Governance than rural and indigenous sectors, the influence of resource availability after tsunamis, the role and responsibility of different levels of governments, and the politics of disaster also play an important role in Disaster Governance for determining Community Resilience. These findings shed light on emergency planning and aspects of the Disaster Management cycle. |
| Address |
Laboratorio de Paisaje y Resiliencia Urbana, Universidad Austral de Chile, Valdivia 509000, Chile. contacto@pru-lab.cl |
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English |
Summary Language |
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Abbreviated Series Title |
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Series Issue |
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Edition |
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| ISSN |
1660-4601 |
ISBN |
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Conference |
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| Notes |
PMID:28906480 |
Approved |
no |
| Call Number |
ref @ user @ |
Serial |
97628 |
| Permanent link to this record |
