Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development
Frontiers in Neuroscience, 2022 Mutations in SET BINDING PROTEIN 1 (SETBP1) cause two different clinically distinguishable diseases called Schinzel–Giedion syndrome (SGS) or SETBP1 deficiency syndrome (SDD).
Lilit Antonyan, Carl Ernst
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FAN1 activity on asymmetric repair intermediates is mediated by an atypical monomeric virus-type replication-repair nuclease domain [PDF]
, 2014 FAN1 is a structure-selective DNA repair nuclease with 5' flap endonuclease activity, involved in the repair of interstrand DNA crosslinks. It is the only eukaryotic protein with a virus-type replication-repair nuclease ("VRR-Nuc") "module" that commonly
David M.J. Lilley +25 more
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, 2021 Photolyases belong to the cryptochrome/photolyase protein family (CPF) which perform different functions such as DNA repair, circadian photoreceptor, and transcriptional regulation.
Kavakli, Ibrahim Halil +2 more
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Evaluating the efficacy of DNA repair biomarkers to assess human cell response to chemotherapy using imaging flow cytometry [PDF]
, 2013 This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.Chemotherapy and radiotherapy are widely accepted as common forms of treatment for cancers. The majority of cancer patients receive chemotherapy alone or in
Zahir, Sheba Adam
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Stem Cell Research & Therapy, 2019 Background Retrotransposition of protein-coding genes is thought to occur due to the existence of numerous processed pseudogenes in both animals and plants.
Saki Aoto +7 more
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PPARδ status and mismatch repair mediated neoplasia in the mouse intestine
BMC Cancer, 2006 Background Therapeutic regulation of PPARδ activity using selective agonists has been proposed for various disorders. However, the consequences of altered peroxisome proliferator-activated receptor delta (PPARδ) activity in the context of intestinal ...
Peters Jeffrey M +5 more
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Inborn errors of immunity associated with characteristic phenotypes
Jornal de Pediatria, 2021 Objectives: The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity.
Maine Luellah Demaret Bardou +2 more
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BMC Pediatrics, 2022 Background Ligase IV (LIG4) dificiency is a very rare clinical syndrome with around 50 cases reported to date. This syndrome is caused by biallelic pathogenic variants in the LIG4 gene, which cause DNA damage repair disorders, mainly manifesting as ...
Miao Huang +5 more
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Lethal and mutagenic properties of MMS-generated DNA lesions in Escherichia coli cells deficient in BER and AlkB-directed DNA repair. [PDF]
, 2010 Methylmethane sulphonate (MMS), an S(N)2-type alkylating agent, generates DNA methylated bases exhibiting cytotoxic and mutagenic properties. Such damaged bases can be removed by a system of base excision repair (BER) and by oxidative DNA demethylation ...
Sikora, Anna +11 more
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ERCC1 expression and RAD51B activity correlate with cell cycle response to platinum drug treatment not DNA repair [PDF]
, 2008 Background: The H69CIS200 and H69OX400 cell lines are novel models of low-level platinum-drug resistance. Resistance was not associated with increased cellular glutathione or decreased accumulation of platinum, rather the resistant cell lines have a cell
Davey, Ross +3 more
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