Global ETD Search
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Showing 1 to 4 of 4 for “"RECQL4"”.
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Functional Characterisation of a RECQL4 Mutation in Rothmund-Thomson Syndrome
Germline mutations affecting the RECQL4 DNA helicase cause Type II Rothmund-Thomson syndrome (RTS), a human disease characterised by defects in skeletal development and predisposition to specific types of cancer, including osteosarcoma (OS). RECQL4 has been implicated in multiple cellular functions …
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Hereditary and inborn etiology of pediatric cancer
… syndrome. Mutations in the TP53, RB, and RECQL4 genes are highly penetrant and can confer up to a 90% chance of developing OS. We hypothesized that single nucleotide polymorphisms (SNPs) in these genes, and those in the same pathways affect risk of OS less drastically. In this analysis, we …
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Somatic microsatellite variability as a measure of DNA stability in cancer and DNA repair disorders
… syndrome, caused by the loss of the RecQL4 gene. The goal of this project was to determine if impaired excision repair genes CSA or global XPA and B or excision repair supporting helicases BLM or RecQL4 leads to MST destabilization. Comparing cohorts from excision repair disorders …
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Increased Oxidative Phosphorylation In An Ipsc- Derived Model of Rothmund-Thomson Syndrome Associated Osteosarcomagenesis
… RTS have biallelic mutations in the DNA helicase RECQL4, which has been shown to have mitochondrial functions that include DNA replication and repair. We describe the generation of 12 induced pluripotent stem cell lines (iPSCs) from two paired RTS patient/ parental control (Family) sets. These …