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Polycystic kidney disease – where gene dosage counts
Gene dosage effects have emerged as playing a central role in the pathogenesis of polycystic kidney disease. Yet, how gene dosage can ultimately have an impact on the formation of kidney cysts remains unknown. In this commentary we review the evidence for the role of gene dosage effects versus the “...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Faculty of 1000 Ltd
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974567/ https://www.ncbi.nlm.nih.gov/pubmed/24765529 http://dx.doi.org/10.12703/P6-24 |
| _version_ | 1782479483348975616 |
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| author | Eccles, Michael R. Stayner, Cherie A. |
| author_facet | Eccles, Michael R. Stayner, Cherie A. |
| author_sort | Eccles, Michael R. |
| collection | PubMed |
| description | Gene dosage effects have emerged as playing a central role in the pathogenesis of polycystic kidney disease. Yet, how gene dosage can ultimately have an impact on the formation of kidney cysts remains unknown. In this commentary we review the evidence for the role of gene dosage effects versus the “2-hit” mutation model in polycystic kidney disease (PKD), and also discuss how gene networks may potentially make intertwined contributions to PKD. |
| format | Online Article Text |
| id | pubmed-3974567 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2014 |
| publisher | Faculty of 1000 Ltd |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-39745672014-04-24 Polycystic kidney disease – where gene dosage counts Eccles, Michael R. Stayner, Cherie A. F1000Prime Rep Review Article Gene dosage effects have emerged as playing a central role in the pathogenesis of polycystic kidney disease. Yet, how gene dosage can ultimately have an impact on the formation of kidney cysts remains unknown. In this commentary we review the evidence for the role of gene dosage effects versus the “2-hit” mutation model in polycystic kidney disease (PKD), and also discuss how gene networks may potentially make intertwined contributions to PKD. Faculty of 1000 Ltd 2014-04-01 /pmc/articles/PMC3974567/ /pubmed/24765529 http://dx.doi.org/10.12703/P6-24 Text en © 2014 Faculty of 1000 Ltd http://creativecommons.org/licenses/by-nc/3.0/legalcode All F1000Prime Reports articles are distributed under the terms of the Creative Commons Attribution-Non Commercial License, which permits non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Review Article Eccles, Michael R. Stayner, Cherie A. Polycystic kidney disease – where gene dosage counts |
| title | Polycystic kidney disease – where gene dosage counts |
| title_full | Polycystic kidney disease – where gene dosage counts |
| title_fullStr | Polycystic kidney disease – where gene dosage counts |
| title_full_unstemmed | Polycystic kidney disease – where gene dosage counts |
| title_short | Polycystic kidney disease – where gene dosage counts |
| title_sort | polycystic kidney disease – where gene dosage counts |
| topic | Review Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974567/ https://www.ncbi.nlm.nih.gov/pubmed/24765529 http://dx.doi.org/10.12703/P6-24 |
| work_keys_str_mv | AT ecclesmichaelr polycystickidneydiseasewheregenedosagecounts AT staynercheriea polycystickidneydiseasewheregenedosagecounts |