Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.
Ragona F et al.
Neurosci, 2025
B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.
Takada S et al.
The Journal of Allergy and Clinical Immunology. Global, 2025
Prenatal phenotype of PNKP-related microcephaly, seizures, and developmental delay: A case report and literature review.
Xie JL et al.
Medicine, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay.
Thuresson AC et al.
Molecular Genetics & Genomic Medicine, 2024
HLA - matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3-phosphatase mutation developed acute myeloid leukemia.
Bayram N et al.
Pediatric Transplantation, 2022
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Neuser S et al.
European Journal of Human Genetics : Ejhg, 2022
Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.
Kalasova I et al.
Nucleic Acids Research, 2020
Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
Froukh T et al.
Clinical Genetics, 2020
Mutational survivorship bias: The case of PNKP.
Bermúdez-Guzmán L et al.
Plos One, 2020
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
Gatti M et al.
American Journal of Medical Genetics. Part A, 2019
DNA Damage and Associated DNA Repair Defects in Disease and Premature Aging.
Tiwari V et al.
American Journal of Human Genetics, 2019
DNA repair deficiency in neuropathogenesis: when all roads lead to mitochondria.
Bermúdez-Guzmán L et al.
Translational Neurodegeneration, 2019
Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.
Taniguchi-Ikeda M et al.
Clinical Genetics, 2018
Structural and functional characterization of the PNKP-XRCC4-LigIV DNA repair complex.
Aceytuno RD et al.
Nucleic Acids Research, 2017
Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease.
Dumitrache LC et al.
Mechanisms of Ageing and Development, 2017
Neurological disorders associated with DNA strand-break processing enzymes.
Jiang B et al.
Mechanisms of Ageing and Development, 2017
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.
Nair P et al.
American Journal of Medical Genetics. Part A, 2016
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
Bras J et al.
American Journal of Human Genetics, 2015
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 et al.
Journal of Human Genetics, 2014
A single strand that links multiple neuropathologies in human disease.
Reynolds JJ et al.
Brain : a Journal of Neurology, 2013
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.
Reynolds JJ et al.
Nucleic Acids Research, 2012
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
Shen J et al.
Nature Genetics, 2010