Impaired p53-mediated DNA damage response contributes to microcephaly in Nijmegen Breakage Syndrome patient-derived cerebral organoids
Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive genetic disorder caused
by mutations within nibrin (NBN), a DNA damage repair protein. Hallmarks of NBS include …
by mutations within nibrin (NBN), a DNA damage repair protein. Hallmarks of NBS include …
Nijmegen breakage syndrome fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for …
Abstract Nijmegen Breakage Syndrome (NBS) is associated with cancer predisposition,
premature aging, immune deficiency, microcephaly and is caused by mutations in the gene …
premature aging, immune deficiency, microcephaly and is caused by mutations in the gene …
Chromosomal instability and molecular defects in induced pluripotent stem cells from Nijmegen breakage syndrome patients
T Halevy, S Akov, M Bohndorf, B Mlody, J Adjaye… - Cell reports, 2016 - cell.com
Nijmegen breakage syndrome (NBS) results from the absence of the NBS1 protein,
responsible for detection of DNA double-strand breaks (DSBs). NBS is characterized by …
responsible for detection of DNA double-strand breaks (DSBs). NBS is characterized by …
Investigating BPDE-induced embryonic toxicity employing hiPSC-based models
VC Meira de Amorim, A Lofrano, LP Szepanowski… - bioRxiv, 2024 - biorxiv.org
Benzo [a] pyrene diol epoxide (BPDE) is a metabolite of the environmental contaminant
Benzo [a] pyrene-a byproduct of incomplete combustion of organic matter. BPDE reacts with …
Benzo [a] pyrene-a byproduct of incomplete combustion of organic matter. BPDE reacts with …
[HTML][HTML] Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p. Arg2444)
M Franz, L Hagenau, R Koch, S Neubauer, B Nowack… - Stem Cell Research, 2020 - Elsevier
Floating-Harbor syndrome (FLHS) is a rare genetic disease caused by mutations in the
SRCAP gene. Here, we generated an induced pluripotent stem cell line from gingival …
SRCAP gene. Here, we generated an induced pluripotent stem cell line from gingival …
DNA damage signaling, cell reprogramming, and differentiation
M Shimada, T Miyake - Epigenetics and DNA Damage, 2022 - Elsevier
Genome stability is maintained by several molecular systems, eg, DNA repair, DNA
replication, DNA recombination, cell cycle checkpoint, and apoptosis. Recent evidence …
replication, DNA recombination, cell cycle checkpoint, and apoptosis. Recent evidence …