about
Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cellsMutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repairMalfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemiaIdentification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel SyndromeFunctional characterization of the novel BRAF complex mutation, BRAF(V600delinsYM) , identified in papillary thyroid carcinoma.Calcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic moleculesHypomorphic PCNA mutation underlies a human DNA repair disorder.miR-196a downregulation increases the expression of type I and III collagens in keloid fibroblasts.Polkappa protects mammalian cells against the lethal and mutagenic effects of benzo[a]pyreneSensitivity and dose dependency of radiation-induced injury in hematopoietic stem/progenitor cells in mice.SETDB1, HP1 and SUV39 promote repositioning of 53BP1 to extend resection during homologous recombination in G2 cells.Mammalian Pol kappa: regulation of its expression and lesion substrates.PCNA ubiquitylation ensures timely completion of unperturbed DNA replication in fission yeast.Translesion synthesis: Y-family polymerases and the polymerase switch.Transplantation of bioengineered rat lungs recellularized with endothelial and adipose-derived stromal cells.PRKDC mutations in a SCID patient with profound neurological abnormalities.A semi-automated non-radioactive system for measuring recovery of RNA synthesis and unscheduled DNA synthesis using ethynyluracil derivatives.Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum.Involvement of vertebrate Polkappa in translesion DNA synthesis across DNA monoalkylation damage.Localisation of human Y-family DNA polymerase kappa: relationship to PCNA foci.Phosphorylated HBO1 at UV irradiated sites is essential for nucleotide excision repair.XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.A rapid, comprehensive system for assaying DNA repair activity and cytotoxic effects of DNA-damaging reagents.Binding and transcriptional activation of non-flagellar genes by the Escherichia coli flagellar master regulator FlhD2C2.Identification of additional genes belonging to the LexA regulon in Escherichia coli.A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU).Expression of human and mouse genes encoding polkappa: testis-specific developmental regulation and AhR-dependent inducible transcription.ALC1/CHD1L, a chromatin-remodeling enzyme, is required for efficient base excision repair.Common TFIIH recruitment mechanism in global genome and transcription-coupled repair subpathways.Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing.An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities.Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.Novel function of HATs and HDACs in homologous recombination through acetylation of human RAD52 at double-strand break sites.The absence of DNA polymerase kappa does not affect somatic hypermutation of the mouse immunoglobulin heavy chain gene.Author Correction: Phosphorylated HBO1 at UV irradiated sites is essential for nucleotide excision repair.Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair DisordersA Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Tomoo Ogi
@ast
Tomoo Ogi
@en
Tomoo Ogi
@es
Tomoo Ogi
@nl
Tomoo Ogi
@sl
type
label
Tomoo Ogi
@ast
Tomoo Ogi
@en
Tomoo Ogi
@es
Tomoo Ogi
@nl
Tomoo Ogi
@sl
prefLabel
Tomoo Ogi
@ast
Tomoo Ogi
@en
Tomoo Ogi
@es
Tomoo Ogi
@nl
Tomoo Ogi
@sl
P106
P1153
7004955915
P31
P496
0000-0002-5492-9072