REPAIRtoire - a database of DNA repair pathways

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Publications


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First author Title PubMed ID
Calvert ME Phosphorylation by casein kinase 2 regulates Nap1 localization and function. 18086883
Hassepass I Phosphorylation at serine 75 is required for UV-mediated degradation of human Cdc25A phosphatase at the S-phase checkpoint. 12759351
Wang YG Phosphorylation and regulation of DNA ligase IV stability by DNA-dependent protein kinase. 15194694
Keesler GA Phosphorylation and destabilization of human period I clock protein by human casein kinase I epsilon. 10790862
Ballif BA Phosphoproteomic analysis of the developing mouse brain. 15345747
Nousiainen M Phosphoproteome analysis of the human mitotic spindle. 16565220
Ficarro SB Phosphoproteome analysis by mass spectrometry and its application to Saccharomyces cerevisiae. 11875433
Tranchant C Phenotypic variability of aprataxin gene mutations. 12629250
Horvath R Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917
Oh KS Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. 16947863
Rose JE Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. 20379614
Greenman C Patterns of somatic mutation in human cancer genomes. 17344846
Van Goethem G Patient homozygous for a recessive POLG mutation presents with features of MERRF. 14694057
Tischkowitz M Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. 18285836
Cravo M Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing. 11839723
Ollila S Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. 17101317
Dumstorf CA Participation of mouse DNA polymerase iota in strand-biased mutagenic bypass of UV photoproducts and suppression of skin cancer. 17114294
Wamboldt Y Participation of leaky ribosome scanning in protein dual targeting by alternative translation initiation in higher plants. 19182105
Caspary F Partial purification of the yeast U2 snRNP reveals a novel yeast pre-mRNA splicing factor required for pre-spliceosome assembly. 10369685
Moshous D Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. 12569164
Luoma P Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. 15351195
Niimi A Palm mutants in DNA polymerases alpha and eta alter DNA replication fidelity and translesion activity. 15024063
Cho YW PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex. 17500065
Hosgood HD 3rd PTEN identified as important risk factor of chronic obstructive pulmonary disease. 19625176
Lu X PPM1D dephosphorylates Chk1 and p53 and abrogates cell cycle checkpoints. 15870257

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