Fátima Sánchez‐Cabo

This study shows that myosin inhibition with mavacamten is effective in treating HCM caused by both truncating and missense variants in MYBPC3, despite different pathomechanisms.

This study shows that activating HIF2 causes vascular remodeling, inflammation, and coronary issues similar to Kawasaki disease, using a new mouse model and human tissue analysis.

This study identifies abnormal ventricular wall patterning as a driver of MYBPC3-related hypertrophic cardiomyopathy through disrupted cardiomyocyte proliferation and Prdm16 regulation.

The paper identifies molecular differences between regenerating blastema and non-regenerating CSD in axolotl limbs and uses Wnt3a expression to induce cartilage bridging in CSD.

This study identifies AXL as a key regulator of cardiac regeneration in axolotls and shows its role in inducing cardiomyocyte dedifferentiation in mammals without cell cycle re-entry.

This study identifies phosphatidylserine as an anti-inflammatory biomarker and shows that HDL-associated PS reduces atherosclerosis through plaque stabilization and immune modulation in mice.

This study shows that titin cleavage drives cardiomyocyte disengagement and fibrosis in heart disease, contributing to myocardial remodeling.

This study shows that circadian rhythms modulate neutrophil function, affecting collateral perfusion and outcomes after ischemic stroke in mice and humans.

This study shows that gut Enterococcus faecalis induces trained immunity in myeloid bone marrow progenitors via the C-type lectin receptor Mincle, contributing to inflammation linked to gut permeability.

SpatialDDLS deconvolutes spatial transcriptomics data using neural networks, showing accuracy and speed compared to existing methods.

The paper identifies epigenetic priming of lineage-specific fates in the mammalian epiblast, revealing early specification of endothelial and mesodermal lineages.

This study identifies ATF4 as a critical regulator of OXPHOS assembly and function by analyzing human and murine cell lines with OXPHOS defects.

This study shows pluripotency factors like OCT4 and NANOG initially repress and later enable activation of lineage specifiers, including the HoxB cluster, during early embryonic development.

This study evaluates using locus variability, measured by Shannon entropy from variant allele frequencies, to predict pathogenic SNVs in mitochondrial and splice-site regions, showing strong performance compared to existing tools.

The paper investigates alternative splicing (AS) in cardiac pathophysiology, identifying PTBP1 as a key regulator of AS changes that drive cardiac hypertrophy and diastolic dysfunction.

This study identifies a feedback loop between Meis transcription factors and retinoic acid in regulating axial skeleton patterning in mice.

dSreg is a Bayesian model that integrates RNA-seq and regulatory data to identify alternative splicing changes and RNA binding protein activity, improving sensitivity and specificity.

This study identifies a Dll4-Jag1-EphrinB2 signaling cascade that regulates coronary arterial development in mice.

This study identifies Nanog as a repressor of Pou3f1, which inhibits anterior neural fate during gastrulation in mouse embryos.

The paper introduces FCS and FCSMt, two scores for predicting pathogenic variants in nuclear and mitochondrial DNA, achieving high AUC values in validation datasets.