Detection of novel candidate mutations as a cause of steroid-resistant nephrotic syndrome in children using next-generation sequencing techniques (Record no. 18668)
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| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | OSt |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20230113093423.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 230113b xxu||||| |||| 00| 0 eng d |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | AIKTC-KRRC |
| Transcribing agency | AIKTC-KRRC |
| 100 ## - MAIN ENTRY--PERSONAL NAME | |
| 9 (RLIN) | 19687 |
| Author | Alsanie, Walaa F. |
| 245 ## - TITLE STATEMENT | |
| Title | Detection of novel candidate mutations as a cause of steroid-resistant nephrotic syndrome in children using next-generation sequencing techniques |
| 250 ## - EDITION STATEMENT | |
| Volume, Issue number | Vol.56(4), Oct_Dec |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Bangalore |
| Name of publisher, distributor, etc. | Association of Pharmaceutical Teachers of India (APTI) |
| Year | 2022 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Pagination | 1134-1140p. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Background and Objectives: Steroid-resistant nephrotic syndrome (SRNS) is a serious<br/>chronic ailment that affects children and causes blood coagulation issues as well as an<br/>increased vulnerability to infections. Only around 10% of inherited genetic nephrotic<br/>syndrome cases are responding to steroid therapy, and, accordingly, 90% of SRNS<br/>patients have multidrug resistance. This study was done to detect novel candidate<br/>mutations as a factor for causing SRNS in children using the sequencing technique.<br/>Materials and Methods: This study included nine children ranging in age from one to<br/>sixteen years old who had a clinical diagnosis of SRNS. Phenotype-genotype correlations<br/>in these Saudi children were explored using next-generation sequencing techniques<br/>to assess the correlation and/or effect of mutations in multiple genes on phenotype<br/>variability. The enrichment analysis was carried out to identify genes. Results: Five<br/>genes were potentially new causative agents for SRNS. The enrichment analysis helped<br/>us identify nine causal genes, not previously reported, in six out of nine individuals<br/>(66%). These genes are phospholipase D family member 3, mitogen-activated protein<br/>kinase binding protein 1, solute carrier family 12 members 3, ezrin, and pancreatic lipase<br/>related protein. The other four nominee genes were wilms tumor 1, diacylglycerol kinase<br/>iota, coenzyme Q8B, and CASC3. Conclusion: The outcome of the study indicated that<br/>there is a new mutation as we had four replicates for each sample run on a different<br/>sequencing lane. The histopathological findings of these mutated patients were focal<br/>segmental glomerulosclerosis. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| 9 (RLIN) | 4639 |
| Topical term or geographic name entry element | PHARMACEUTICS |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| 9 (RLIN) | 14735 |
| Co-Author | Alamri, Abdulhakeem S. |
| 773 0# - HOST ITEM ENTRY | |
| Place, publisher, and date of publication | Bengluru Association of Pharmaceutical Teachers of India (APTI) |
| Title | Indian journal of pharmaceutical education and research |
| International Standard Serial Number | 0019-5464 |
| 856 ## - ELECTRONIC LOCATION AND ACCESS | |
| URL | https://www.ijper.org/sites/default/files/IJPER-Basheeruddin%20Asdaq_QCRD.pdf |
| Link text | Click here |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Source of classification or shelving scheme | Dewey Decimal Classification |
| Koha item type | Articles Abstract Database |
| Withdrawn status | Lost status | Source of classification or shelving scheme | Damaged status | Not for loan | Home library | Current library | Shelving location | Date acquired | Total Checkouts | Barcode | Date last seen | Price effective from | Koha item type |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Dewey Decimal Classification | School of Pharmacy | School of Pharmacy | Archieval Section | 13/01/2023 | 2023-0111 | 13/01/2023 | 13/01/2023 | Articles Abstract Database |