These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

165 related articles for article (PubMed ID: 34697416)

  • 1. Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
    Neuser S; Krey I; Schwan A; Abou Jamra R; Bartolomaeus T; Döring J; Syrbe S; Plassmann M; Rohde S; Roth C; Rehder H; Radtke M; Le Duc D; Schubert S; Bermúdez-Guzmán L; Leal A; Schoner K; Popp B
    Eur J Hum Genet; 2022 Jan; 30(1):101-110. PubMed ID: 34697416
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.
    Leal A; Bogantes-Ledezma S; Ekici AB; Uebe S; Thiel CT; Sticht H; Berghoff M; Berghoff C; Morera B; Meisterernst M; Reis A
    Neurogenetics; 2018 Dec; 19(4):215-225. PubMed ID: 30039206
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Multi affected pedigree with congenital microcephaly: WES revealed PNKP gene mutation.
    Entezam M; Razipour M; Talebi S; Beiraghi Toosi M; Keramatipour M
    Brain Dev; 2019 Feb; 41(2):182-186. PubMed ID: 30195441
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.
    Kalasova I; Hailstone R; Bublitz J; Bogantes J; Hofmann W; Leal A; Hanzlikova H; Caldecott KW
    Nucleic Acids Res; 2020 Jul; 48(12):6672-6684. PubMed ID: 32504494
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma.
    Scholz C; Golas MM; Weber RG; Hartmann C; Lehmann U; Sahm F; Schmidt G; Auber B; Sturm M; Schlegelberger B; Illig T; Steinemann D; Hofmann W
    Clin Genet; 2018 Jul; 94(1):185-186. PubMed ID: 29498415
    [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. 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]  

  • 12. The FHA domain of PNKP is essential for its recruitment to DNA damage sites and maintenance of genome stability.
    Tsukada K; Shimada M; Imamura R; Saikawa K; Ishiai M; Matsumoto Y
    Mutat Res; 2021; 822():111727. PubMed ID: 33220551
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
    Nakashima M; Takano K; Osaka H; Aida N; Tsurusaki Y; Miyake N; Saitsu H; Matsumoto N
    J Hum Genet; 2014 Aug; 59(8):471-4. PubMed ID: 24965255
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease.
    Dumitrache LC; McKinnon PJ
    Mech Ageing Dev; 2017 Jan; 161(Pt A):121-129. PubMed ID: 27125728
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 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. Zika Virus Induces Mitotic Catastrophe in Human Neural Progenitors by Triggering Unscheduled Mitotic Entry in the Presence of DNA Damage While Functionally Depleting Nuclear PNKP.
    Rychlowska M; Agyapong A; Weinfeld M; Schang LM
    J Virol; 2022 May; 96(9):e0033322. PubMed ID: 35412344
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Domain analysis of PNKP-XRCC1 interactions: Influence of genetic variants of XRCC1.
    Mani RS; Mermershtain I; Abdou I; Fanta M; Hendzel MJ; Glover JNM; Weinfeld M
    J Biol Chem; 2019 Jan; 294(2):520-530. PubMed ID: 30446622
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.