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Sabrina Friedline

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#gene editing Open access Sep 2026

Mapping and rewiring the MYBPC3 promoter for rescue of haploinsufficiency driven hypertrophic cardiomyopathy

This work presents a variant-agnostic approach to rescue haploinsufficiency by mapping and rationally redesigning the MYBPC3 promoter and identifies synergistic sequence edits that drive robust increases in MYBPC3 expression.

Aaron Renberg, S. Coppersmith, Owen Merritt et al. · 0 citations
#gene editing Open access Sep 2026

Genomic Engineering of Gene Dosage: A Generalizable Framework for Modeling Haploinsufficiency-Mediated Human Disorders through Splicing Modulation

Heterozygous loss-of-function variants causing gene dosage reduction underlie many human genetic disorders, yet preclinical mouse models frequently fail to recapitulate human disease phenotypes due to post-translational compensation. Here, we present a generalizable framework to modulate gene dosage by alternative spli...

Eric D. Smith, Joshua K. Meisner, Abbey Bullard et al. · 0 citations

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