Article

Allelic and Gene Dosage Effects Involving Uromodulin Aggregates Drive Autosomal Dominant Tubulointerstitial Kidney Disease

2022-09-15

Abstract excerpt

Missense mutations in the UMOD gene encoding uromodulin cause autosomal dominant tubulointerstitial kidney disease (ADTKD), one of the most common monogenic kidney diseases. A pressing need for ADTKD is to bridge the gap between postulated gain-of-function mutations and organ damage - a prerequisite for therapeutic development. Based on two missense UMOD mutations associated with divergent progression of ADTKD,...

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Literature Corpus work: 4b984bc4-1bc5-5ee4-b11f-84dff1e872af
DOI: 10.1101/2022.09.13.507770

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