Ewart Kuijk

A collection of patient-derived intestinal organoid lines reveals epithelial phenotypes associated with genetic drivers of pediatric inflammatory bowel disease

The paper generates intestinal organoids from pediatric IBD patients and controls to study epithelial phenotypes linked to genetic drivers of the disease, identifying gene expression patterns and pathways associated with inflammation.

Distinct heterozygous TTC7A missense variants lead to different intestinal epithelial phenotypes in pediatric IBD

This study examines how different TTC7A missense mutations in pediatric IBD patients lead to distinct intestinal epithelial phenotypes.

Human colon stem cells are the principal epithelial responders to bacterial antigens

The paper investigates how human intestinal epithelial cells respond to bacterial antigens, finding that stem cells are the primary responders and that WNT signaling plays a key role in regulating microbial responses.

The genome-wide mutational consequences of DNA hypomethylation

This study investigates the mutational consequences of global DNA hypomethylation by analyzing single-cell genetic variation in DNMT1-depleted cells, finding increased chromosomal instability without significant mutational burden or structural changes.

Mutational impact of culturing human pluripotent and adult stem cells

This study quantifies and characterizes mutation accumulation in human induced pluripotent stem cells and adult stem cells during in vitro culture, revealing distinct mutational signatures and higher mutation rates compared to in vivo.

Sperm DNA damage causes genomic instability in early embryonic development

Sperm DNA damage leads to genomic defects in embryos through chromosome fragmentation and segregation errors.

Early divergence of mutational mechanisms drives genetic heterogeneity of fetal tissues

The paper quantifies somatic mutation accumulation in fetal liver and intestinal stem cells, finding higher mutation rates and distinct mutation spectra in fetal liver compared to fetal intestine and adult tissues.

Deficiency of nucleotide excision repair explains mutational signature observed in cancer

The paper shows that NER deficiency increases Signature 8 mutations in specific tissues and suggests this could be a biomarker for NER-deficiency in cancer.