Anne L. Calof

This study shows that combined haploinsufficiency of Nipbl and Isl1 in mice leads to more severe congenital heart defects than either gene deficiency alone.

The paper identifies gene expression changes in Nipbl+/- mouse embryos during gastrulation that link Nipbl-deficiency to birth defects via mesoderm lineage misallocation and Nanog overexpression.

This study shows that reducing Wapl dosage partially corrects transcriptome and growth defects in Nipbl-/+ embryonic mouse brains, suggesting cohesin dynamics regulate gene expression.

MusMorph provides standardized mouse morphology data for meta-analyses, including craniofacial and brain structures across developmental stages and genotypes.

This study identifies Alpha B-crystallin as an anti-inflammatory factor secreted by olfactory ensheathing cells that suppresses astrocyte activation and neurotoxicity through exosome-mediated mechanisms.

This study identifies NIPBL's interaction with RNA and treacle in regulating pre-rRNA transcription and nucleolar organization.

This study examines how Nipbl haploinsufficiency affects cohesin binding and gene expression in mice, linking reduced cohesin function to CdLS-related gene dysregulation.