1. Angiomotin mutation causes glomerulopathy and renal cysts by upregulating hepatocyte nuclear factor transcriptional activity.
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Zhang, Yaochun, Lu, Liangjian, Hu, Zhenhua, Dai, Yu, Ahmad, Nurul Jannah Binti, Ng, Jun Li, Chan, Chang Yien, Hossain, Md. Zakir, Loh, Alwin Hwai Liang, Ward, Jerrold M., Tan, Puay Hoon, Davila, Sonia, Kumar, Vikrant, Hunziker, Walter, Lin, Haishu, Yap, Hui Kim, and Ng, Kar Hui
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HEPATOCYTE nuclear factors , *CYSTIC kidney disease , *TRANSCRIPTION factors , *RECESSIVE genes , *FANCONI syndrome , *LABORATORY rats , *RATTUS norvegicus - Abstract
Of note, HNF1A and HNF1B are associated with Fanconi syndrome and kidney cystic diseases in humans.4,5 Gene set enrichment analysis (GSEA) of Hnf4 target genes (Table S3) corroborated the motif enrichment analysis, as it suggested that Hnf4 target genes were upregulated in PG rats (Figure 3E). The PG rat tubules were dilated compared to WT, thus accounting for the discrepant diameters of the tubules between the WT and PG rats. No histological kidney abnormalities were noted in WT and PS rats, while the PG rats had minimal to moderate histological changes (n = 3 for WT and PS rats, n = 6 for PG rats). Dear editor, We identified angiomotin ( I AMOT i ) as a novel candidate gene for X-linked recessive nephropathy associated with glomerular disease, tubulopathy and progressive kidney cystic disease. [Extracted from the article]
- Published
- 2022
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