Time for an update? Research #exome #sequencing can achieve up to 95% sensitivity in detecting #PKD1 variants, rivaling traditional methods. bit.ly/4cVfb9T #AKPKD #Pseudogenes
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Time for an update? Research #exome #sequencing can achieve up to 95% sensitivity in detecting #PKD1 variants, rivaling traditional methods. bit.ly/4cVfb9T #AKPKD #Pseudogenes
⭐NAR Breakthrough ⭐
New study identifies a 6-nt miR-17 site in the #PKD1 3′UTR that limits PKD1 expression. Targeting this site boosts PKD1 protein and reduces cyst burden in #ADPKD models—highlighting a promising oligo-based strategy @vishal-d-patel.bsky.social
🧬Read more: doi.org/10.1093/nar/...
Study findings suggest that the location of nontruncating #PKD1 variants could serve as a marker of progression of #ADPKD. #kidneydisease #nephrology #nephsky docwirenews.com/post/variant...