Model organisms for functional validation in genetic renal disease
Functional validation is key for establishing new disease genes in human genetics. Over the years, model organisms have been utilized in a very effective manner to prove causality of genes or genetic variants for a wide variety of diseases. Also in hereditary renal disease, model organisms are very...
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| Main Authors: | , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
29. November 2022
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| In: |
Medizinische Genetik
Year: 2022, Volume: 34, Issue: 4, Pages: 287-296 |
| ISSN: | 1863-5490 |
| DOI: | 10.1515/medgen-2022-2162 |
| Online Access: | Resolving-System, Volltext: https://doi.org/10.1515/medgen-2022-2162 Verlag, Volltext: https://www.degruyterbrill.com/document/doi/10.1515/medgen-2022-2162/html 
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| Author Notes: | Susanne Boettcher and Matias Simons |
| Summary: | Functional validation is key for establishing new disease genes in human genetics. Over the years, model organisms have been utilized in a very effective manner to prove causality of genes or genetic variants for a wide variety of diseases. Also in hereditary renal disease, model organisms are very helpful for functional validation of candidate genes and variants identified by next-generation sequencing strategies and for obtaining insights into the pathophysiology. Due to high genetic conservation as well as high anatomical and physiological similarities with the human kidney, almost all genetic kidney diseases can be studied in the mouse. However, mouse work is time consuming and expensive, so there is a need for alternative models. In this review, we will provide an overview of model organisms used in renal research, focusing on mouse, zebrafish, frog, and fruit flies. |
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| Item Description: | Gesehen am 01.02.2023 |
| Physical Description: | Online Resource |
| ISSN: | 1863-5490 |
| DOI: | 10.1515/medgen-2022-2162 |