Article

A Case-Inspired Exploration of Renin Mutations in Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD): Not All Paths Lead to the ER.

2023-10-16

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) results from mutations in various genes, including <italic>REN</italic>, <italic>UMOD</italic>, <italic>MUC1</italic>, and <italic>HNF1B</italic>. ADTKD-REN is often characterized as a proteinopathy that triggers the endoplasmic reticulum stress (ERS) cascade, potentially sharing similarities with ADTK...

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Literature Corpus work: b8fec436-5d1c-52ac-9c7f-2cb2b6c35b4e
DOI: 10.21203/rs.3.rs-3423563/v1

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