Ipek Ilgin Gönenç

Distinct mitochondrial DNA single-nucleotide variant signatures in TOP3A-deficient cardiomyocytes

This study identifies unique mtDNA mutation patterns in TOP3A-deficient cardiomyocytes, linking mtDNA instability to mitochondrial dysfunction in cardiac disease.

Mitotic BLM functions are required to maintain genomic stability

This study shows that BLM helicase is essential for resolving ultrafine DNA bridges during mitosis, preventing genomic instability.

DDIAS is a single-stranded DNA-binding effector of the TOPBP1-CIP2A complex in mitosis

The paper identifies DDIAS as a mitosis-specific DNA damage response protein that binds single-stranded DNA and is part of the TOPBP1-CIP2A complex, highlighting its role in protecting chromosome integrity during mitosis.

BTRR complex deficiency is a driver for genomic instability in Bloom syndrome

This study shows that BTRR complex deficiency increases genomic instability through copy number alterations, enriched at fragile sites, using CRISPR-edited iPSC models.

Phenotypic distinctions of BLM- and RMI1-associated Bloom syndrome

This study reports clinical and molecular findings of eight Bloom syndrome patients, identifying BLM and RMI1 mutations and highlighting phenotypic differences between BLM- and RMI1-associated cases.

Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures

This study uses single-cell transcriptome analysis to show that BLM deficiency in Bloom syndrome patients alters gene expression related to mitosis, genomic instability, and condensin complexes.