Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

Christopher Walsh and colleagues describe a new recessive genetic disease characterized by microcephaly, early-onset intractable seizures and developmental delay (MCSZ). The authors identify mutations in PNKP that result in this severe disease and show that PNKP mutations disrupt DNA repair. Mainten...

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Veröffentlicht in:	Nature genetics 2010-03, Vol.42 (3), p.245-249
Hauptverfasser:	Shen, Jun, Gilmore, Edward C, Marshall, Christine A, Haddadin, Mary, Reynolds, John J, Eyaid, Wafaa, Bodell, Adria, Barry, Brenda, Gleason, Danielle, Allen, Kathryn, Ganesh, Vijay S, Chang, Bernard S, Grix, Arthur, Hill, R Sean, Topcu, Meral, Caldecott, Keith W, Barkovich, A James, Walsh, Christopher A
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/2489/144 692/699/375 Agriculture Animal Genetics and Genomics Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Causes of Child Chromosomes Chromosomes, Human, Pair 19 Consanguinity Deoxyribonucleic acid Developmental Disabilities - complications Developmental Disabilities - genetics DNA DNA repair DNA Repair - genetics DNA Repair Enzymes - genetics DNA Repair-Deficiency Disorders - complications DNA Repair-Deficiency Disorders - genetics Embryo, Mammalian Family Female Free radicals Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genetic aspects Genetics of eukaryotes. Biological and molecular evolution Genome-Wide Association Study Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Health aspects Human Genetics Humans Infant Kinases letter Male Malformations of the nervous system Medical sciences Microcephaly Microcephaly - complications Microcephaly - genetics Mutation Mutation - physiology Nervous system (semeiology, syndromes) Neurology Neurophysiology Nucleic acids Pedigree Phosphatases Phosphotransferases Phosphotransferases (Alcohol Group Acceptor) - genetics Polymorphism, Single Nucleotide Proteins Seizures (Medicine) Seizures - complications Seizures - genetics
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