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MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY

Known as: EIEE10, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10, MCSZ 
 
National Institutes of Health

Papers overview

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2019
2019
Pathogenic variants in polynucleotide kinase 3′‐phosphatase (PNKP) gene have been associated with two distinct clinical… Expand
2017
2017
Abstract Non-homologous end joining (NHEJ) repairs DNA double strand breaks in non-cycling eukaryotic cells. NHEJ relies on… Expand
2017
2017
The scaffold protein X-ray repair cross-complementing 1 (XRCC1) interacts with multiple enzymes involved in DNA base excision… Expand
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2017
2017
The DNA repair enzyme polynucleotide kinase/phosphatase (PNKP) protects genome integrity by restoring ligatable 5’-phosphate and… Expand
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Review
2016
Review
2016
Microcephaly is a rare neurological condition, both in isolation and when it occurs as part of a syndrome. One of the syndromic… Expand
2012
2012
Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in… Expand
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2011
2011
Scission of one or both strands of the DNA duplex occurs as ionizing radiation and oxidative DNA damage mount a constant assault… Expand
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2011
2011
The repair of reactive oxygen species (ROS)-induced base lesions and single-strand breaks (SSBs) in the nuclear genome via the… Expand
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Highly Cited
2010
Highly Cited
2010
Maintenance of DNA integrity is crucial for all cell types, but neurons are particularly sensitive to mutations in DNA repair… Expand
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2010
2010
  • K. Huang
  • Clinical genetics
  • 2010
  • Corpus ID: 28915004
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair Shen et al. (2010) Nature Genetics 42(3… Expand
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