Result 1 - 6 of total 6
Mental welfare
2017 Volume 16, Issue 3, Page(s) 49–59
| Language | English |
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| Publishing date | 2017-09-14 |
| Publishing country | England |
| Document type | Journal Article |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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Mental welfare
2017 Volume 13, Issue 2, Page(s) 29–38
| Language | English |
|---|---|
| Publishing date | 2017-09-14 |
| Publishing country | England |
| Document type | Journal Article |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.
2024
Abstract: Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is poorly understood, and treatments are limited to supportive measures. Here, ... ...
| Abstract | Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is poorly understood, and treatments are limited to supportive measures. Here, we performed a comprehensive analysis of whole genome sequence data from 888 European-ancestry MSA cases and 7,128 controls to systematically investigate the genetic underpinnings of this understudied neurodegenerative disease. We identified four significantly associated risk loci using a genome-wide association study approach. Transcriptome-wide association analyses prioritized USP38-DT, KCTD7, and lnc-KCTD7-2 as novel susceptibility genes for MSA within these loci, and single-nucleus RNA sequence analysis found that the associated variants acted as cis-expression quantitative trait loci for multiple genes across neuronal and glial cell types. In conclusion, this study highlights the role of genetic determinants in the pathogenesis of MSA, and the publicly available data from this study represent a valuable resource for investigating synucleinopathies. |
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| Language | English |
| Publishing date | 2024-04-24 |
| Publishing country | United States |
| Document type | Journal Article |
| ZDB-ID | 808167-0 |
| ISSN | 1097-4199 ; 0896-6273 |
| ISSN (online) | 1097-4199 |
| ISSN | 0896-6273 |
| DOI | 10.1016/j.neuron.2024.04.002 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 2496: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG) |
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| Zs.MG 92: Show issues |
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2021 Volume 53, Issue 3, Page(s) 294–303
Abstract: The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, ... ...
| Abstract | The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition. |
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| MeSH term(s) | Adaptor Proteins, Signal Transducing/genetics ; Alzheimer Disease/genetics ; Case-Control Studies ; Gene Expression Profiling ; Genetic Predisposition to Disease ; Genome, Human ; Genome-Wide Association Study ; Glucosylceramidase/genetics ; Humans ; Lewy Body Disease/genetics ; Nuclear Proteins/genetics ; Parkinson Disease/genetics ; Polymorphism, Single Nucleotide ; Tumor Suppressor Proteins/genetics ; alpha-Synuclein/genetics |
| Chemical Substances | Adaptor Proteins, Signal Transducing ; BIN1 protein, human ; Nuclear Proteins ; SNCA protein, human ; Tumor Suppressor Proteins ; alpha-Synuclein ; GBA protein, human (EC 3.2.1.45) ; Glucosylceramidase (EC 3.2.1.45) |
| Language | English |
| Publishing date | 2021-02-15 |
| Publishing country | United States |
| Document type | Journal Article ; Multicenter Study ; Research Support, N.I.H., Intramural |
| ZDB-ID | 1108734-1 |
| ISSN | 1546-1718 ; 1061-4036 |
| ISSN (online) | 1546-1718 |
| ISSN | 1061-4036 |
| DOI | 10.1038/s41588-021-00785-3 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 3613: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG) |
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| Zs.MG 46: Show issues |
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2017 Volume 7, Issue 8, Page(s) 2439–2460
Abstract: The discordance between genome size and the complexity of eukaryotes can partly be attributed to differences in repeat density. The Muller F element (∼5.2 Mb) is the smallest chromosome ... ...
| Abstract | The discordance between genome size and the complexity of eukaryotes can partly be attributed to differences in repeat density. The Muller F element (∼5.2 Mb) is the smallest chromosome in |
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| MeSH term(s) | Animals ; Base Composition/genetics ; Base Sequence ; Chromosomes/genetics ; Codon/genetics ; Drosophila/genetics ; Female ; Gene Expression Profiling ; Genes, Insect ; Histones/metabolism ; Protein Processing, Post-Translational/genetics ; Retroelements/genetics ; Wolbachia/genetics |
| Chemical Substances | Codon ; Histones ; Retroelements |
| Language | English |
| Publishing date | 2017-08-07 |
| Publishing country | United States |
| Document type | Journal Article ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural |
| ZDB-ID | 2629978-1 |
| ISSN | 2160-1836 ; 2160-1836 |
| ISSN (online) | 2160-1836 |
| ISSN | 2160-1836 |
| DOI | 10.1534/g3.117.040907 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.
being a report on an enquiry as to how far the clauses of 'The Children's Charter' are being carried out within the City of Westminster, London
1925
| Author's details | compiled by Lucy E. Beach |
|---|---|
| Language | English |
| Size | 93 S. |
| Publisher | The World's Children |
| Publishing place | London |
| Document type | Book |
| Database | Library catalogue of the German National Library of Science and Technology (TIB), Hannover |
Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.