An intronic micro-deletion impacts the transcription and translation of PKD1 gene
Polycystin-1 (PC1), encoded by the PKD1 gene, forms a complex with polycystin-2 (PKD2; 173910) that regulates multiple signaling pathways to maintain normal renal tubular structure and function. Mutations in the PKD1 gene are the primary cause of type 1 PKD (polycystic kidney disease), accounting fo...
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| 主要な著者: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Frontiers Media S.A.
2026-01-01
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| シリーズ: | Frontiers in Genetics |
| 主題: | |
| オンライン･アクセス: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1707053/full |
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