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3. Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay. Thuresson AC; Brazina J; Akram T; Albrecht J; Dahl N; Soussi Zander C; Caldecott KW Mol Genet Genomic Med; 2024 Jan; 12(1):e2295. PubMed ID: 37916443 [TBL] [Abstract][Full Text] [Related]
4. Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. Reynolds JJ; Walker AK; Gilmore EC; Walsh CA; Caldecott KW Nucleic Acids Res; 2012 Aug; 40(14):6608-19. PubMed ID: 22508754 [TBL] [Abstract][Full Text] [Related]
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9. The Rev1 interacting region (RIR) motif in the scaffold protein XRCC1 mediates a low-affinity interaction with polynucleotide kinase/phosphatase (PNKP) during DNA single-strand break repair. Breslin C; Mani RS; Fanta M; Hoch N; Weinfeld M; Caldecott KW J Biol Chem; 2017 Sep; 292(39):16024-16031. PubMed ID: 28821613 [TBL] [Abstract][Full Text] [Related]
10. Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor. Jiang B; Murray C; Cole BL; Glover JNM; Chan GK; Deschenes J; Mani RS; Subedi S; Nerva JD; Wang AC; Lockwood CM; Mefford HC; Leary SES; Ojemann JG; Weinfeld M; Ene CI Sci Rep; 2022 Mar; 12(1):5386. PubMed ID: 35354845 [TBL] [Abstract][Full Text] [Related]
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13. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Shen J; Gilmore EC; Marshall CA; Haddadin M; Reynolds JJ; Eyaid W; Bodell A; Barry B; Gleason D; Allen K; Ganesh VS; Chang BS; Grix A; Hill RS; Topcu M; Caldecott KW; Barkovich AJ; Walsh CA Nat Genet; 2010 Mar; 42(3):245-9. PubMed ID: 20118933 [TBL] [Abstract][Full Text] [Related]
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16. From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations. Gatti M; Magri S; Nanetti L; Sarto E; Di Bella D; Salsano E; Pantaleoni C; Mariotti C; Taroni F Am J Med Genet A; 2019 Nov; 179(11):2277-2283. PubMed ID: 31436889 [TBL] [Abstract][Full Text] [Related]
17. Persistent 3'-phosphate termini and increased cytotoxicity of radiomimetic DNA double-strand breaks in cells lacking polynucleotide kinase/phosphatase despite presence of an alternative 3'-phosphatase. Chalasani SL; Kawale AS; Akopiants K; Yu Y; Fanta M; Weinfeld M; Povirk LF DNA Repair (Amst); 2018 Aug; 68():12-24. PubMed ID: 29807321 [TBL] [Abstract][Full Text] [Related]
18. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. Bras J; Alonso I; Barbot C; Costa MM; Darwent L; Orme T; Sequeiros J; Hardy J; Coutinho P; Guerreiro R Am J Hum Genet; 2015 Mar; 96(3):474-9. PubMed ID: 25728773 [TBL] [Abstract][Full Text] [Related]
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