Jos Jonkers

SMIM1 drives an alternative iron uptake pathway

This study identifies SMIM1 as a key regulator of an alternative iron uptake pathway through hemoglobin binding and lysosomal iron release, with implications for iron homeostasis and erythropoiesis.

CIP2A tetramerization is required for mitotic DNA repair

This study shows that CIP2A tetramerization is essential for mitotic DNA repair and survival of BRCA1/2 mutant cancer cells.

Defective BRCA1-mediated DNA end resection drives tandem duplication formation and FANCM synthetic lethality

The paper shows that defective BRCA1-mediated DNA end resection leads to Group 1 tandem duplication formation and FANCM synthetic lethality in mouse models.

TAOK1 regulates chemo- and radiosensitivity in BRCA1/2-deficient tumors

This study identifies TAOK1 as a regulator of replication fork stability in BRCA1/2-deficient tumors, showing it enhances sensitivity to PARPi and IR through PCNA and ISG15 interactions.

Transcriptomic analysis of pubertal and adult virgin mouse mammary epithelial and stromal cell populations

The paper analyzes bulk RNAseq data from mouse mammary epithelial and stromal cells during puberty and adult virgin estrous cycles to study gene expression changes related to hormone fluctuations.

Genome-scale mapping of DNA damage suppressors identifies GNB1L as essential for ATM and ATR biogenesis

The paper identifies 160 genes that suppress DNA damage in human cells through CRISPR/Cas9 screens, highlighting GNB1L's role in ATR biogenesis and its link to neuropsychiatric disorders.

MDC1 counteracts restrained replication fork restart and its loss causes chemoresistance in BRCA1/2-deficient mammary tumors

This study identifies MDC1's role in replication fork restart and shows its loss leads to chemoresistance in BRCA1/2-deficient mammary tumors.

Genomic profiling defines variable clonal relatedness between invasive breast cancer and primary ductal carcinoma in situ

The paper uses genomic profiling to show that some invasive breast cancers are clonally unrelated to their preceding DCIS, suggesting DCIS may act as both a precursor and independent risk factor.

Feasibility of phosphoproteomics on leftover samples after RNA extraction with guanidinium thiocyanate

The paper evaluates AGPC-based extraction for phosphoproteomics on limited samples, showing comparable results to urea-based methods and enabling multi-omics analysis.

The Tandem Duplicator Phenotype is a prevalent genome-wide cancer configuration driven by distinct gene mutations

The paper identifies three span intervals of tandem duplications in TDP tumors and links them to specific gene mutations and pathways, showing TP53 and BRCA1 loss drives short-span TDPs.

Easy quantification of template-directed CRISPR/Cas9 editing

The paper introduces TIDER, a method to quantify template-directed CRISPR/Cas9 editing efficiency using an adapted TIDE approach.