ArticleKidney international reports2025
Elucidating Mechanisms of Hypomorphic WDR19-Related Kidney Failure.
Article in Kidney international reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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11 authors.
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Abstract
Introduction: Variants in the Methods: We used CRISPR-Cas9 to induce patient-specific hypomorphic and loss-of-function (LoF) variants in human embryonic stem cells (hESCs), in addition to using patient-derived induced pluripotent stem cells (iPSCs) for differentiation into kidney organoids. Organoids were assessed by using immunofluorescence, electron microscopy, RNA-sequencing, and pathway analysis to elucidate the effects of these pathogenic variants on kidney development and ciliopathy characteristics. Results: The Conclusion: Our study validates the pathogenic role of the
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