Hypomorphic PCNA mutation underlies a human DNA repair disorder.
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Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsPhotosensitive human syndromesAdvances in Skeletal Dysplasia GeneticsP21 deficiency delays regeneration of skeletal muscular tissueA fluorescent bimolecular complementation screen reveals MAF1, RNF7 and SETD3 as PCNA-associated proteins in human cellsIn-silico QTL mapping of postpubertal mammary ductal development in the mouse uncovers potential human breast cancer risk loci.Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVsTRAIP regulates replication fork recovery and progression via PCNASystematic review of autosomal recessive ataxias and proposal for a classification.Proliferating cell nuclear antigen prevents trinucleotide repeat expansions by promoting repeat deletion and hairpin removal.DNA strand breaks and TDP-43 mislocation are absent in the murine hSOD1G93A model of amyotrophic lateral sclerosis in vivo and in vitro.Review: The lord of the rings: Structure and mechanism of the sliding clamp loader.Chronic oxidative damage together with genome repair deficiency in the neurons is a double whammy for neurodegeneration: Is damage response signaling a potential therapeutic target?The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery.PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions.Forging Ahead through Darkness: PCNA, Still the Principal Conductor at the Replication Fork.Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.Linear growth and endocrine function in children with ataxia telangiectasia.PARP10 deficiency manifests by severe developmental delay and DNA repair defect.PCNA Retention on DNA into G2/M Phase Causes Genome Instability in Cells Lacking Elg1.PCNA mutation affects DNA repair not replication.Genome integrity and disease prevention in the nervous system.Protein sequestration at the nuclear periphery as a potential regulatory mechanism in premature aging.Nuclear insulin-like growth factor 1 receptor phosphorylates proliferating cell nuclear antigen and rescues stalled replication forks after DNA damage.Effects of 12C6+ heavy ion beam irradiation on the p53 signaling pathway in HepG2 liver cancer cells.Hot topic: PNKP mutations cause ataxia with oculomotor apraxia type 4.
P2860
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P2860
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
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2014 nî lūn-bûn
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2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
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2014 թվականի հունիսին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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name
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
@ast
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
@en
type
label
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
@ast
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
@en
prefLabel
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
@ast
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
@en
P2093
P2860
P50
P356
P1476
Hypomorphic PCNA mutation underlies a human DNA repair disorder
@en
P2093
A Malcolm R Taylor
Ajith Sreekantan-Nair
Alan R Lehmann
Andrew H Crosby
Constance K Stein
Gaurav V Harlalka
Harold E Cross
Heather Fawcett
Helen Chambers
James I Last
P2860
P304
P356
10.1172/JCI74593
P407
P577
2014-06-09T00:00:00Z