Geena E. Fritzmann

The paper investigates how missense variants in MYBPC3 and MYBPHL affect sarcomere incorporation by expressing variants in cardiomyocytes and assessing their localization and stoichiometric effects.

The paper investigates MYBPHL nonsense mutations, showing they impair sarcomere incorporation, lead to protein degradation, and cause contractile defects in cardiomyocytes.

This study investigates the effects of conditional MyBP-HL loss in mice, showing adult knock-down causes hypertrophy and atrial dysfunction, while conduction system-specific deletion leads to mild hypercontractility.

This study shows that cardiac polycystin-2 is involved in natriuretic peptide production, and its absence leads to hypertension in ADPKD mice.