Please wait, while we are loading the content...
Please wait, while we are loading the content...
| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Palese, P. Graves, P. N. Grabowski, G. A. Ludman, M. D. Smith, F. I. |
| Abstract | Human acid beta-glucosidase (beta-Glc) mRNA was evaluated by dot blot, Northern blot, and S1 nuclease analyses of extracts of HeLa cells and cultured fibroblasts from normal individuals and Gaucher disease patients. Dot blot quantitation indicated an equal concentration of specific mRNA in all sources. Northern blot analyses demonstrated the presence of three poly (A)+ mRNAs of about 5,600, 2,500, and 2,000 nucleotides in length from all cell extracts. All three mRNAs were present in normal amounts in fibroblast extracts from several subtypes and variants of Gaucher disease. The largest poly (A)+ mRNA species was thought to represent an unspliced nuclear precursor for the two smaller beta-Glc mRNAs. S1 nuclease analyses, using SP6 transcripts of beta-Glc cDNA, indicated that the 2,000 nucleotide mRNA differs from the 2,500 nucleotide form at both the 5' and 3' ends. These results are consistent with the use of an alternate 5' splice site and 3' polyadenylation signal. These results also suggest that the subtype and variants of Gaucher disease result from single base alterations that lead to the synthesis of defective beta-Glc. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 6 |
| Volume Number | 39 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1986-12-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Gaucher Disease Genetics Glucosidases Glucosylceramidase Rna, Messenger Cells, Cultured Endonucleases Fibroblasts Enzymology Genetic Markers Deficiency Hela Cells Nucleic Acid Hybridization Single-strand Specific Dna And Rna Endonucleases Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
National Digital Library of India (NDLI) is a virtual repository of learning resources which is not just a repository with search/browse facilities but provides a host of services for the learner community. It is sponsored and mentored by Ministry of Education, Government of India, through its National Mission on Education through Information and Communication Technology (NMEICT). Filtered and federated searching is employed to facilitate focused searching so that learners can find the right resource with least effort and in minimum time. NDLI provides user group-specific services such as Examination Preparatory for School and College students and job aspirants. Services for Researchers and general learners are also provided. NDLI is designed to hold content of any language and provides interface support for 10 most widely used Indian languages. It is built to provide support for all academic levels including researchers and life-long learners, all disciplines, all popular forms of access devices and differently-abled learners. It is designed to enable people to learn and prepare from best practices from all over the world and to facilitate researchers to perform inter-linked exploration from multiple sources. It is developed, operated and maintained from Indian Institute of Technology Kharagpur.
Learn more about this project from here.
NDLI is a conglomeration of freely available or institutionally contributed or donated or publisher managed contents. Almost all these contents are hosted and accessed from respective sources. The responsibility for authenticity, relevance, completeness, accuracy, reliability and suitability of these contents rests with the respective organization and NDLI has no responsibility or liability for these. Every effort is made to keep the NDLI portal up and running smoothly unless there are some unavoidable technical issues.
Ministry of Education, through its National Mission on Education through Information and Communication Technology (NMEICT), has sponsored and funded the National Digital Library of India (NDLI) project.
| Sl. | Authority | Responsibilities | Communication Details |
|---|---|---|---|
| 1 | Ministry of Education (GoI), Department of Higher Education |
Sanctioning Authority | https://www.education.gov.in/ict-initiatives |
| 2 | Indian Institute of Technology Kharagpur | Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project | https://www.iitkgp.ac.in |
| 3 | National Digital Library of India Office, Indian Institute of Technology Kharagpur | The administrative and infrastructural headquarters of the project | Dr. B. Sutradhar bsutra@ndl.gov.in |
| 4 | Project PI / Joint PI | Principal Investigator and Joint Principal Investigators of the project |
Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon |
| 5 | Website/Portal (Helpdesk) | Queries regarding NDLI and its services | support@ndl.gov.in |
| 6 | Contents and Copyright Issues | Queries related to content curation and copyright issues | content@ndl.gov.in |
| 7 | National Digital Library of India Club (NDLI Club) | Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach | clubsupport@ndl.gov.in |
| 8 | Digital Preservation Centre (DPC) | Assistance with digitizing and archiving copyright-free printed books | dpc@ndl.gov.in |
| 9 | IDR Setup or Support | Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops | idr@ndl.gov.in |
|
Loading...
|