دورية أكاديمية
Next-generation sequencing: Application of a novel platform to analyze atypical iron disorders
| العنوان: | Next-generation sequencing: Application of a novel platform to analyze atypical iron disorders |
|---|---|
| المؤلفون: | McDonald, Cameron, Ostini, Lesa, Wallace, Daniel, Lyons, Alison, Crawford, Darrell, Subramaniam, V. Nathan |
| المصدر: | Journal of Hepatology |
| بيانات النشر: | Elsevier |
| سنة النشر: | 2015 |
| المجموعة: | Queensland University of Technology: QUT ePrints |
| مصطلحات موضوعية: | Article, adult, aged, amino acid substitution, calnexin, cell surface, cellular distribution, clinical article, cost effectiveness analysis, endoplasmic reticulum, female, gene mutation, genetic analysis, hemojuvelin, hephaestin, hephaestin like 1, human, iron overload, loss of function mutation, male, middl, transferrin receptor 2, unclassified drug |
| الوصف: | The development of targeted next-generation sequencing (NGS) applications now promises to be a clinically viable option for the diagnosis of rare disorders. This approach is proving to have significant utility where standardized testing has failed to identify the underlying molecular basis of disease. We have developed a unique targeted NGS panel for the systematic sequence-based analysis of atypical iron disorders. We report the analysis of 39 genes associated with iron regulation in eight cases of atypical iron dysregulation, in which five cases we identified the definitive causative mutation, and a possible causative mutation in a sixth. We further provide a molecular and cellular characterization study of one of these mutations (TFR2, p.I529N) in a familial case as proof of principle. Cellular analysis of the mutant protein indicates that this amino acid substitution affects the localization of the protein, which results in its retention in the endoplasmic reticulum and thus failure to function at the cell surface. Our unique NGS panel presents a rapid and cost-efficient approach to identify the underlying genetic cause in cases of atypical iron homeostasis disorders. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | unknown |
| العلاقة: | https://eprints.qut.edu.au/99754/1/UQ369288_OA.pdfTest; McDonald, Cameron, Ostini, Lesa, Wallace, Daniel, Lyons, Alison, Crawford, Darrell, & Subramaniam, V. Nathan (2015) Next-generation sequencing: Application of a novel platform to analyze atypical iron disorders. Journal of Hepatology, 63(5), pp. 1288-1293.; https://eprints.qut.edu.au/99754Test/; Faculty of Health; Institute of Health and Biomedical Innovation |
| الإتاحة: | https://doi.org/10.1016/j.jhep.2015.06.027Test https://eprints.qut.edu.au/99754Test/ |
| حقوق: | free_to_read ; http://creativecommons.org/licenses/by-nc-nd/2.5Test/ ; Consult author(s) regarding copyright matters ; This work is covered by copyright. Unless the document is being made available under a Creative Commons Licence, you must assume that re-use is limited to personal use and that permission from the copyright owner must be obtained for all other uses. If the document is available under a Creative Commons License (or other specified license) then refer to the Licence for details of permitted re-use. It is a condition of access that users recognise and abide by the legal requirements associated with these rights. If you believe that this work infringes copyright please provide details by email to qut.copyright@qut.edu.au |
| رقم الانضمام: | edsbas.48C8F369 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |