Ingrid van der Pluijm

Generation and characterization of Induced Pluripotent Stem Cell models with SMAD3 mutations to study the molecular mechanism of Loeys-Dietz Syndrome Type III aneurysm formation

This study generates and characterizes induced pluripotent stem cell models with SMAD3 mutations to investigate LDS3 aneurysm formation mechanisms.

Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz Syndrome patients provides insights into genotype-phenotype relations

This study investigates the functional impact of SMAD3 variants in patient-derived cells, showing distinct effects of dominant negative and haploinsufficient variants on disease manifestations and age of onset.

A long-deletion mouse model of Williams syndrome reveals Ncf1-dependent modulation of vascular and neural phenotypes

This paper develops a long-deletion mouse model of Williams syndrome to study vascular and neural phenotypes, finding that Ncf1 modulates both cardiovascular and neuropsychological symptoms.

SLC2A knockout mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

This study generates a novel mouse model of arterial tortuosity syndrome by knocking out Slc2a10 and Gulo, revealing mitochondrial respiration defects and compromised extracellular matrix formation.