The functional impact of a rare germline TP53β N340D variant identified in breast cancer patients with the Li-Fraumeni-like syndrome by Christowitz, Claudia

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Investigating the role of a FAM111B mutation in hereditary fibrosing poikiloderma (POIKTMP) using induced pluripotent stem cell (iPSC) model by Gumede, Dimakatso B

“…Patient-derived iPSC-MSCs were thereafter analysed by qPCR and collagen staining to determine whether the FAM111B mutation alters endogenous expression of pro-fibrotic markers as well as collagen synthesis in patient cells compared to controls. …”
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