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6. 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]
7. Polynucleotide kinase-phosphatase enables neurogenesis via multiple DNA repair pathways to maintain genome stability. Shimada M; Dumitrache LC; Russell HR; McKinnon PJ EMBO J; 2015 Oct; 34(19):2465-80. PubMed ID: 26290337 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations. Sorrentino U; Baschiera E; Desbats MA; Zuffardi O; Salviati L; Cassina M Am J Med Genet B Neuropsychiatr Genet; 2024 Oct; ():e33013. PubMed ID: 39417375 [TBL] [Abstract][Full Text] [Related]
10. The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort. Garrelfs MR; Takada S; Kamsteeg EJ; Pegge S; Mancini G; Engelen M; van de Warrenburg B; Rennings A; van Gaalen J; Peters I; Weemaes C; van der Burg M; Willemsen MA Pediatr Neurol; 2020 Dec; 113():26-32. PubMed ID: 32980744 [TBL] [Abstract][Full Text] [Related]
11. Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. Nair P; Hamzeh AR; Mohamed M; Saif F; Tawfiq N; El Halik M; Al-Ali MT; Bastaki F Am J Med Genet A; 2016 Aug; 170(8):2127-32. PubMed ID: 27232581 [TBL] [Abstract][Full Text] [Related]
12. DNA repair mechanisms in dividing and non-dividing cells. Iyama T; Wilson DM DNA Repair (Amst); 2013 Aug; 12(8):620-36. PubMed ID: 23684800 [TBL] [Abstract][Full Text] [Related]
13. Linker region is required for efficient nuclear localization of polynucleotide kinase phosphatase. Tsukada K; Matsumoto Y; Shimada M PLoS One; 2020; 15(9):e0239404. PubMed ID: 32970693 [TBL] [Abstract][Full Text] [Related]
14. Compound Heterozygous Mutations in Bitarafan F; Khodaeian M; Almadani N; Kalhor A; Sardehaei EA; Garshasbi M Fetal Pediatr Pathol; 2021 Apr; 40(2):174-180. PubMed ID: 31707899 [TBL] [Abstract][Full Text] [Related]
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16. Lingering single-strand breaks trigger Rad51-independent homology-directed repair of collapsed replication forks in the polynucleotide kinase/phosphatase mutant of fission yeast. Sanchez A; Gadaleta MC; Limbo O; Russell P PLoS Genet; 2017 Sep; 13(9):e1007013. PubMed ID: 28922417 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Structural and functional characterization of the PNKP-XRCC4-LigIV DNA repair complex. Aceytuno RD; Piett CG; Havali-Shahriari Z; Edwards RA; Rey M; Ye R; Javed F; Fang S; Mani R; Weinfeld M; Hammel M; Tainer JA; Schriemer DC; Lees-Miller SP; Glover JNM Nucleic Acids Res; 2017 Jun; 45(10):6238-6251. PubMed ID: 28453785 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]