Manuel Sánchez‐Martín

The paper generates and characterizes the first mouse model with a dominant-negative glycine substitution in collagen VI alpha chains, showing key disease features for therapeutic research.

The paper identifies ancestral dorsal-ventral patterning mechanisms in fish fins and shows evolutionary innovations in their regulation.

This study shows that MSK1 absence disrupts BDNF-dependent striatal development and leads to schizophrenia-like behaviors in mice.

The paper identifies a missense variant in HSF2BP linked to POI, showing it impairs meiotic recombination by affecting its interaction with MIDAP and reducing recombinase activity.

This study identifies two mammalian-specific enhancers upstream of the HoxC gene cluster that regulate Hoxc gene expression in ectodermal organs like hair and nails.

The paper shows that a specific amino acid at position 163 in canine PrPC confers resistance to prion infection, confirmed through transgenic mouse models.

This study shows that targeting splice donor sites with sgRNAs improves CRISPR/Cas9 knockout efficiency by increasing frameshift mutations and disrupting pre-mRNA splicing.