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1. Full Text S2-3 Congenital mutations in the WDR4 gene cause severe microcephaly associated with genome instability
by OGI and Tomoo and Res. Inst. Environ. Med. (RIeM and Dept. Genet and Nagoya Univ
Genes & Genetic Systems, ISSN 1341-7568, 2016, Volume 91, Issue 6, pp. 319 - 319
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2. Full Text miR-196a Downregulation Increases the Expression of Type I and III Collagens in Keloid Fibroblasts
by Kashiyama, Kazuya and Mitsutake, Norisato and Matsuse, Michiko and Ogi, Tomoo and Saenko, Vladimir A and Ujifuku, Kenta and Utani, Atsushi and Hirano, Akiyoshi and Yamashita, Shunichi
Journal of Investigative Dermatology, ISSN 0022-202X, 06/2012, Volume 132, Issue 6, pp. 1597 - 1604
Keloids are a fibroproliferative disease due to abnormal wound healing process after skin injury. They are characterized by overproduction of extracellular... 
FIBROSIS | MESSENGER-RNAS | COLORECTAL-CANCER | DISEASE | EPIGENETIC REGULATION | GENE-EXPRESSION | MICRORNAS | SYSTEMIC-SCLEROSIS | HYPERTROPHIC SCARS | REVEALS | DERMATOLOGY | Fibroblasts - physiology | Humans | Middle Aged | Male | MicroRNAs - metabolism | Promoter Regions, Genetic - genetics | Luciferases - genetics | Young Adult | Collagen Type I - genetics | Aged, 80 and over | Adult | Female | DNA Methylation - physiology | Dermis - cytology | Real-Time Polymerase Chain Reaction | Keloid - pathology | Collagen Type III - genetics | Down-Regulation - genetics | Keloid - physiopathology | Keloid - genetics | Adolescent | CpG Islands - genetics | Aged | Fibroblasts - cytology | MicroRNAs - genetics | Primary Cell Culture
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3. Identification, Timing, and Signal Specificity of Pseudomonas aeruginosa Quorum-Controlled Genes: a Transcriptome Analysis
by Schuster, M and Lostroh, CP and Ogi, T and Greenberg, EP
Journal of Bacteriology, ISSN 0021-9193, 04/2003, Volume 185, Issue 7, pp. 2066 - 2079
There are two interrelated acyl-homoserine lactone quorum-sensing-signaling systems in Pseudomonas aeruginosa. These systems, the LasR-LasI system and the... 
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4. Full Text Identification, Timing, and Signal Specificity of Pseudomonas aeruginosa Quorum-Controlled Genes: a Transcriptome Analysis
by Martin Schuster and C. Phoebe Lostroh and Tomoo Ogi and E. P. Greenberg
Journal of Bacteriology, ISSN 0021-9193, 04/2003, Volume 185, Issue 7, pp. 2066 - 2079
Article Usage Stats Services JB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley... 
VIRULENCE DETERMINANTS | SECONDARY METABOLITES | GRAM-NEGATIVE BACTERIA | ACTIVATOR | TO-CELL COMMUNICATION | RHAMNOLIPID BIOSYNTHESIS | LASR | MICROBIOLOGY | HOMOSERINE LACTONE | SENSING SYSTEMS | EXPRESSION | Genome, Bacterial | Reproducibility of Results | Signal Transduction | Oligonucleotide Array Sequence Analysis - methods | Operon | Gene Silencing | Gene Expression Profiling | Pseudomonas aeruginosa - physiology | DNA-Binding Proteins - genetics | Homeodomain Proteins - genetics | Bacterial Proteins | 4-Butyrolactone - metabolism | Regulon | Trans-Activators - genetics | Transcription, Genetic | 4-Butyrolactone - analogs & derivatives | Mutation | Gene Expression Regulation, Bacterial | Analysis | Physiological aspects | Pseudomonas aeruginosa | Genetic aspects | Research | Genetic transcription | Gene expression | Bacteriology | Lactones | Microbial Communities and Interactions
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5. Full Text XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency
by Guo, Chaowan, PhD and Nakazawa, Yuka, PhD and Woodbine, Lisa, PhD and Björkman, Andrea, PhD and Shimada, Mayuko, BS and Fawcett, Heather, PhD and Jia, Nan, PhD and Ohyama, Kaname, PhD and Li, Tao-Sheng, MD, PhD and Nagayama, Yuji, MD, PhD and Mitsutake, Norisato, MD, PhD and Pan-Hammarström, Qiang, MD, PhD and Gennery, Andrew R., MD and Lehmann, Alan R., PhD and Jeggo, Penny A., PhD and Ogi, Tomoo, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 4, pp. 1007 - 1017
Background Nonhomologous end-joining (NHEJ) is the major DNA double-strand break (DSB) repair mechanism in human cells. The final rejoining step requires DNA... 
Allergy and Immunology | microcephaly | DNA double-strand break repair | immunodeficiency | double-strand break repair deficiency | nonhomologous end-joining | XRCC4/LIG4 | PRIMORDIAL DWARFISM | STRAND BREAK REPAIR | CLASS SWITCH RECOMBINATION | V(D)J RECOMBINATION | COCKAYNE-SYNDROME | IMMUNOLOGY | GENOMIC INSTABILITY | PROTEIN XRCC4 | ALLERGY | END-JOINING PATHWAYS | EMBRYONIC LETHALITY | DNA-LIGASE-IV | Ataxia - immunology | Protein Binding - genetics | Microcephaly - genetics | Humans | Radiation Tolerance - genetics | DNA Repair - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | DNA Ligases - metabolism | V(D)J Recombination - genetics | Young Adult | Microcephaly - immunology | DNA Mutational Analysis | HEK293 Cells | DNA Ligase ATP | Immunologic Deficiency Syndromes - genetics | Female | Protein Stability | Ataxia - genetics | Immunologic Deficiency Syndromes - immunology | Hospitals | Ligases | Analysis | Genomics | Stem cells | Immunodeficiency | Genetic aspects | Mutation | Kinases | DNA repair | Genes
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6. Full Text A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU)
by Limsirichaikul, Siripan and Niimi, Atsuko and Fawcett, Heather and Lehmann, Alan and Yamashita, Shunichi and Ogi, Tomoo
Nucleic Acids Research, ISSN 0305-1048, 3/2009, Volume 37, Issue 4, pp. e31 - e31
Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder. Afflicted patients show extreme sun-sensitivity and skin cancer predisposition. XP is in... 
IRRADIATION | TRICHOTHIODYSTROPHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | TRANSCRIPTION | XERODERMA-PIGMENTOSUM-CELLS | SENSITIVITY | COCKAYNE-SYNDROME | GENETIC-HETEROGENEITY | DISORDERS | DNA-REPAIR | NUCLEOTIDE EXCISION-REPAIR | Xeroderma Pigmentosum - genetics | Xeroderma Pigmentosum - metabolism | Humans | Cells, Cultured | Tritium | DNA - chemistry | Deoxyuridine - analogs & derivatives | Ultraviolet Rays | Fibroblasts - radiation effects | Deoxyuridine - metabolism | DNA Repair | Fluorescent Antibody Technique | DNA - biosynthesis | Microscopy, Fluorescence | Fibroblasts - metabolism | Thymidine - metabolism | Methods Online
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7. Full Text Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair
by Nakazawa, Yuka and Sasaki, Kensaku and Mitsutake, Norisato and Matsuse, Michiko and Shimada, Mayuko and Nardo, Tiziana and Takahashi, Yoshito and Ohyama, Kaname and Ito, Kosei and Mishima, Hiroyuki and Nomura, Masayo and Kinoshita, Akira and Ono, Shinji and Takenaka, Katsuya and Masuyama, Ritsuko and Kudo, Takashi and Slor, Hanoch and Utani, Atsushi and Tateishi, Satoshi and Yamashita, Shunichi and Stefanini, Miria and Lehmann, Alan R and Yoshiura, Koh-Ichiro and Ogi, Tomoo
Nature Genetics, ISSN 1061-4036, 05/2012, Volume 44, Issue 5, pp. 586 - 592
UV-sensitive syndrome ((UVS)-S-S) is a genodermatosis characterized by cutaneous photosensitivity without skin carcinoma(1-4). Despite mild clinical features,... 
IRRADIATION | INHIBITION | OXIDATIVE DNA-DAMAGE | XERODERMA-PIGMENTOSUM | DEFECT | GENETICS & HEREDITY | FRAMEWORK | COCKAYNE-SYNDROME | SEQUENCING DATA | SYNDROME CELLS | FIBROBLASTS | DNA Helicases - chemistry | Transcription Factors - chemistry | Humans | DNA Repair Enzymes - genetics | DNA Repair - radiation effects | DNA Repair - genetics | RNA Polymerase II - metabolism | Transcription Factors - genetics | Mutation - genetics | Carrier Proteins - genetics | Poly-ADP-Ribose Binding Proteins | Exome - genetics | Ultraviolet Rays | Cockayne Syndrome - genetics | DNA Damage - genetics | RNA Polymerase II - genetics | Transcription, Genetic | DNA Helicases - genetics | DNA Damage - radiation effects | DNA Repair Enzymes - chemistry | Proteins | Medical research | Mutation | Kinases | Genes
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8. Full Text Polκ Protects Mammalian Cells against the Lethal and Mutagenic Effects of Benzo[a]pyrene
by Tomoo Ogi and Yoichi Shinkai and Kiyoji Tanaka and Haruo Ohmori
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2002, Volume 99, Issue 24, pp. 15548 - 15553
Several low-fidelity DNA polymerases have recently been discovered that are able to bypass DNA lesions during DNA synthesis in vitro. The efficiency and... 
Feeder cells | Enzymes | Biological Sciences | Cell growth | 3T3 cells | DNA | Cell lines | Cephalopelvic disproportion | Lesions | Genetic mutation | Adducts | PRONE LESION BYPASS | LUNG-CANCER | REPAIR | ETA | XERODERMA-PIGMENTOSUM | GENE | DNA-POLYMERASE-KAPPA | MULTIDISCIPLINARY SCIENCES | TRANSCRIPTION | ADDUCTS | MUTATIONS
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9. Full Text PRKDC mutations in a SCID patient with profound neurological abnormalities
by Woodbine, Lisa and Neal, Jessica A and Sasi, Nanda-Kumar and Shimada, Mayuko and Deem, Karen and Coleman, Helen and Dobyns, William B and Ogi, Tomoo and Meek, Katheryn and Davies, E. Graham and Jeggo, Penny A
Journal of Clinical Investigation, ISSN 0021-9738, 07/2013, Volume 123, Issue 7, pp. 2969 - 2980
The DNA-dependent protein kinase catalytic subunit (DNA-PKcs; encoded by PRKDC) functions in DNA non-homologous end-joining (NHEJ), the major DNA double strand... 
MEDICINE, RESEARCH & EXPERIMENTAL | CATALYTIC SUBUNIT | SEVERE COMBINED IMMUNODEFICIENCY | TARGETED DISRUPTION | REPAIR | V(D)J RECOMBINATION | DEPENDENT PROTEIN-KINASE | DOUBLE-STRAND BREAKS | HUMAN SOMATIC-CELLS | DNA-LIGASE-IV | TELOMERE LENGTH | Microcephaly - genetics | Humans | Child, Preschool | Molecular Sequence Data | Male | Brain - abnormalities | Microcephaly - enzymology | Mutation, Missense | Molecular Diagnostic Techniques | DNA Mutational Analysis | Base Sequence | DNA-Activated Protein Kinase - genetics | Fatal Outcome | Conserved Sequence | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Amino Acid Sequence | Cell Line | Severe Combined Immunodeficiency - enzymology | Genetic Association Studies | Severe Combined Immunodeficiency - diagnosis | Microcephaly - diagnosis | Point Mutation | Severe Combined Immunodeficiency - genetics | Abnormalities, Multiple - diagnosis | DNA Repair | Abnormalities, Multiple - enzymology | Physiological aspects | Research | Gene mutations | Neurogenetics | Protein kinases | Health aspects | Medical research | Mutation | Kinases | DNA repair | Genes
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10. Full Text A Japanese case of galli-galli disease due to a previously unreported POGLUT1 mutation
by Kono, Michihiro and Sawada, Masaki and Nakazawa, Yuka and Ogi, Tomoo and Muro, Yoshinao and Akiyama, Masashi
Acta Dermato-Venereologica, ISSN 0001-5555, 04/2019, Volume 99, Issue 4, pp. 458 - 459
DOWLING-DEGOS DISEASE | ENTITY | POFUT1 | DISTINCT | KITAMURA | RETICULATE ACROPIGMENTATION | VARIANT | DERMATOLOGY | Genetic Predisposition to Disease | Frameshift Mutation | Skin Diseases, Papulosquamous - genetics | Humans | Hyperpigmentation - diagnosis | Japan | Middle Aged | Hyperpigmentation - genetics | Hyperpigmentation - enzymology | Skin Diseases, Genetic - genetics | Skin Pigmentation - genetics | Phenotype | Biopsy | DNA Mutational Analysis | Skin Diseases, Genetic - diagnosis | Skin Diseases, Papulosquamous - diagnosis | Female | Skin Diseases, Papulosquamous - enzymology | Skin Diseases, Genetic - enzymology | Glucosyltransferases - genetics | Dowling–Degos disease (DDD) | non-Caucasian | POGLUT1
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11. Full Text The Y-family DNA polymerase κ (pol κ) functions in mammalian nucleotide-excision repair
by Ogi, Tomoo and Lehmann, Alan R
Nature Cell Biology, ISSN 1465-7392, 06/2006, Volume 8, Issue 6, pp. 640 - 642
DNA polymerase κ (pol κ) is a member of the Y-family of DNA polymerases that are thought to function in translesion synthesis (TLS) past different types of DNA... 
CELLS | RECOMBINATION | REPLICATION | PCNA | ETA | DELTA | DAMAGE | EPSILON | CELL BIOLOGY | Cell Line | Animals | DNA Repair | DNA-Directed DNA Polymerase - physiology | Fibroblasts - cytology | Mice | Kinetics | DNA-Directed DNA Polymerase - deficiency | Ultraviolet Rays - adverse effects
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12. Full Text Calcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic molecules
by Okubo, Yumi and Masuyama, Ritsuko and Iwanaga, Akira and Koike, Yuta and Kuwatsuka, Yutaka and Ogi, Tomoo and Yamamoto, Yosuke and Endo, Yuichiro and Tamura, Hiroshi and Utani, Atsushi
PLoS ONE, ISSN 1932-6203, 05/2017, Volume 12, Issue 5, p. e0177375
Gamma-glutamyl carboxylase (GGCX) gene mutation causes GGCX syndrome (OMIM: 137167), which is characterized by pseudoxanthoma elasticum (PXE)-like symptoms and... 
GAMMA-CARBOXYGLUTAMIC ACID | K-DEPENDENT PROTEINS | CUTIS LAXA | STEM-CELLS | OSTEOBLAST DIFFERENTIATION | PSEUDOXANTHOMA ELASTICUM | MATRIX GLA-PROTEIN | MULTIDISCIPLINARY SCIENCES | VASCULAR CALCIFICATION | ENDOTHELIAL-CELLS | VITAMIN-K | Enzymes | Phosphatases | Gene mutations | Collagen | Analysis | Calcification | Fibroblasts | Physiological aspects | Bone morphogenetic proteins | Genetic aspects | Research | Bcl-2 protein | Carbon dioxide | Coagulation | Smooth muscle | Biochemistry | Phosphatase | Epidemiology | Blood | Incidence | Fragmentation | Eye | Proteins | Angiogenesis | Bicarbonate | Vitamin D | Mineralization | Biocompatibility | Genetics | Deoxyribonucleic acid--DNA | Dermatology | Elastin | Ions | Cultures | Gene expression | Joint diseases | Metabolism | Patients | Abdomen | Membrane proteins | Embryonic growth stage | Inhibitors | Arteriosclerosis | Hypoxia | Light microscopy | Skin | Mice | Mutation | Mass spectrometry | Health care | Porphyria | Polyethylenes | Alkaline phosphatase | Residues | Surgical implants | Calcium | Retinitis pigmentosa | Exons | Antibodies | Iron | Arteries | Modulation | Lesions | Stains | Age | University graduates | Crystals | Nitrogen | Adhesion | Medicine | Acids | Microscopy | Bcl protein | Bone | Differentiation | Activin | Veins & arteries | Deoxyribonucleic acid | DNA
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13. Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations
by Doi, Hiroshi and Koyano, Shigeru and Miyatake, Satoko and Nakajima, Shinji and Nakazawa, Yuka and Kunii, Misako and Tomita-Katsumoto, Atsuko and Oda, Kayoko and Yamaguchi, Yukie and Fukai, Ryoko and Ikeda, Shingo and Kato, Rumiko and Ogata, Katsuhisa and Kubota, Shun and Hayashi, Noriko and Takahashi, Keita and Tada, Mikiko and Tanaka, Kenichi and Nakashima, Mitsuko and Tsurusaki, Yoshinori and Miyake, Noriko and Saitsu, Hirotomo and Ogi, Tomoo and Aihara, Michiko and Takeuchi, Hideyuki and Matsumoto, Naomichi and Tanaka, Fumiaki
Journal of Human Genetics, ISSN 1434-5161, 04/2018, Volume 63, Issue 4, pp. 417 - 423
Autosomal recessive cerebellar ataxias (ARCAs) are clinically and genetically heterogeneous neurological disorders. Through whole-exome sequencing of Japanese... 
XERODERMA-PIGMENTOSUM | VARIANTS | DISEASE | GENETICS & HEREDITY | DNA-REPAIR ENDONUCLEASE | COMPLEMENTATION GROUP-F | FANCONI-ANEMIA | XPF
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14. Full Text A rapid, comprehensive system for assaying DNA repair activity and cytotoxic effects of DNA-damaging reagents
by Jia, Nan and Nakazawa, Yuka and Guo, Chaowan and Shimada, Mayuko and Sethi, Mieran and Takahashi, Yoshito and Ueda, Hiroshi and Nagayama, Yuji and Ogi, Tomoo
Nature Protocols, ISSN 1754-2189, 01/2015, Volume 10, Issue 1, pp. 12 - 24
DNA repair systems protect cells from genomic instability and carcinogenesis. Therefore, assays for measuring DNA repair activity are valuable, not only for... 
RNA-SYNTHESIS | NUCLEOTIDE-EXCISION-REPAIR | HUMAN-FIBROBLASTS | UV-SENSITIVE SYNDROME | CLICK CHEMISTRY | HUMAN-CELLS | IN-VIVO | BIOCHEMICAL RESEARCH METHODS | XERODERMA-PIGMENTOSUM VARIANT | COCKAYNE-SYNDROME | 2 DECADES | Nucleosides - chemistry | Humans | DNA Repair - physiology | Genetic Complementation Test - methods | Click Chemistry - methods | Fluorescence | Alkynes - chemistry | Biological Assay - methods | Azides - chemistry | Lentivirus | RNA - biosynthesis | Ultraviolet Rays | DNA - biosynthesis | Scintillation Counting | DNA synthesis | Synthesis | RNA | DNA damage | Analysis | Nucleoside analogs | Index Medicus
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15. Full Text Collaborative action of Brca1 and CtIP in elimination of covalent modifications from double-strand breaks to facilitate subsequent break repair
by Nakamura, Kyoko and Kogame, Toshiaki and Oshiumi, Hiroyuki and Shinohara, Akira and Sumitomo, Yoshiki and Agama, Keli and Pommier, Yves and Tsutsui, Kimiko M and Tsutsui, Ken and Hartsuiker, Edgar and Ogi, Tomoo and Takeda, Shunichi and Taniguchi, Yoshihito
PLoS Genetics, ISSN 1553-7390, 01/2010, Volume 6, Issue 1, p. e1000828
Topoisomerase inhibitors such as camptothecin and etoposide are used as anti-cancer drugs and induce double-strand breaks (DSBs) in genomic DNA in cycling... 
DAMAGE RESPONSE | COMPLEX | PROTEIN | SUSCEPTIBILITY GENE BRCA1 | GENETICS & HEREDITY | VERTEBRATE CELLS | TOPOISOMERASE-I | HOMOLOGOUS RECOMBINATION | IONIZING-RADIATION | SACCHAROMYCES-CEREVISIAE | DNA-END RESECTION | Nuclear Proteins - metabolism | DNA Breaks, Double-Stranded | DNA - genetics | BRCA1 Protein - genetics | Animals | Cell Cycle | Recombination, Genetic | BRCA1 Protein - metabolism | Chickens | DNA Repair | Cell Line, Tumor | Protein Binding | Nuclear Proteins - genetics | Physiological aspects | Genetic aspects | Research | DNA repair | DNA damage | Cell cycle | Phosphorylation | Polypeptides | Cyclin-dependent kinases | Cloning | Genetics | Kinases | Cancer therapies | Manuscripts
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16. Full Text Identification of the First ATRIP-Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR-ATRIP Seckel Syndrome
by Ogi, Tomoo and Walker, Sarah and Stiff, Tom and Hobson, Emma and Limsirichaikul, Siripan and Carpenter, Gillian and Prescott, Katrina and Suri, Mohnish and Byrd, Philip J and Matsuse, Michiko and Mitsutake, Norisato and Nakazawa, Yuka and Vasudevan, Pradeep and Barrow, Margaret and Stewart, Grant S and Taylor, A. Malcolm R and O'Driscoll, Mark and Jeggo, Penny A
PLoS Genetics, ISSN 1553-7390, 11/2012, Volume 8, Issue 11, p. e1002945
A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR) gene was previously reported in two related families displaying Seckel... 
H2AX | PRIMORDIAL DWARFISM | PHOSPHORYLATION | DNA-DAMAGE RESPONSE | ORIGIN RECOGNITION COMPLEX | II MOPD-II | GENETICS & HEREDITY | STRESS | MEIER-GORLIN SYNDROME | LOCUS | SSDNA | Osteochondrodysplasias - pathology | Microcephaly - genetics | Growth Disorders - pathology | Humans | Fetal Growth Retardation - genetics | Male | Micrognathism - pathology | DNA-Binding Proteins - deficiency | DNA-Binding Proteins - metabolism | RNA Splicing | Osteochondrodysplasias - genetics | Microcephaly - pathology | Patella - abnormalities | Cell Cycle Proteins - genetics | Female | Dwarfism - pathology | Protein-Serine-Threonine Kinases - metabolism | Congenital Microtia | Ear - abnormalities | Micrognathism - genetics | Cell Cycle Proteins - metabolism | Gene Expression Regulation | Protein-Serine-Threonine Kinases - genetics | Signal Transduction - genetics | Ataxia Telangiectasia Mutated Proteins | Codon, Nonsense | DNA-Binding Proteins - genetics | Fetal Growth Retardation - pathology | Patella - pathology | Dwarfism - genetics | Adaptor Proteins, Signal Transducing - deficiency | Adaptor Proteins, Signal Transducing - genetics | Heterozygote | Ear - pathology | Adaptor Proteins, Signal Transducing - metabolism | Growth Disorders - genetics | Gene mutations | Seckel syndrome | Physiological aspects | Development and progression | Ataxia telangiectasia | Genetic aspects | Research | Science | Medical research | Mutation | Genes
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