Multi affected pedigree with congenital microcephaly: WES revealed PNKP gene mutation
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health
Reference10 articles.
1. Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature;Hagen;Dev Med Child Neurol,2014
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3. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair;Shen;Nat Genet,2010
4. 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;J Hum Genet,2014
5. Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation;Nair;Am J Med Genet A,2016
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1. Novel PNKP mutations associated with reduced DNA single‐strand break repair and severe microcephaly, seizures, and developmental delay;Molecular Genetics & Genomic Medicine;2023-11-02
2. Genetic diagnosis of fetal microcephaly at a single tertiary center in China;Frontiers in Genetics;2023-05-09
3. Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans;Journal of Biological Chemistry;2023-05
4. 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;Journal of Virology;2022-05-11
5. Zika virus induces neural progenitor cell mitotic catastrophe by depleting nuclear PNKP while activating cytoplasmic CDK1 despite the DNA damage;2021-08-28
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