Ito M, Masuda H, Morooka M, Sugiyama A, Yokota H, Ogi T, Nishio Y, Kuwabara S. Gerstmann-Sträussler-Scheinker disease mimicking primary progressive multiple sclerosis: A case with positive oligoclonal bands. Mult Scler. 2025 Dec 29:13524585251401053.

Iguchi Y, Tsujikawa K, Murakami A, Kume K, Nakazawa Y, Oso T, Nishio Y, Matsuo K, Fukami Y, Araki K, Ogi T, Kawakami H, Katsuno M. A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12. Intern Med. 2025 Oct 23.

Nakazawa Y, Ye L, Oka Y, Morinaga H, Kato K, Shimada M, Tsukada K, Tsujikawa K, Nishio Y, Fassihi H, Mohammed S, Lehmann AR, Ogi T*. TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy. J Clin Invest. 2025 Sep 9;135(22):e195732.

Fassihi H, Mohammed S, Nakazawa Y, Fawcett H, Turner S, Palfrey J, Garrood I, Abiona A, Morley AM, Shimada M, Kato K, Lehmann AR, Ogi T*. XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit. J Clin Invest. 2025 Sep 9;135(22):e195731

Wada E, Hosono H, Tanaka M, Miyakawa F, Ochi K, Kohda H, Tanno S, Shimano R, Ito A, Kitaura Y, Ichihara K, Matsumoto A, Ogi T, Satoh-Asahara N, Murohara T, Suganami T. Transient Dietary Intervention Induces Healthy Adipose Tissue Expansion and Metabolically Healthy Obesity in Mice. FASEB J. 2025 Jul 31;39(14):e70847.

Kato K, Nishio Y, McMillan KJ, Al-Maraghi A, Kroes HY, Abdel-Hamid MS, Jones E, Shaw S, Yoshida A, Otsuji S, Murofushi Y, Aamer W, Bhat AA, AlRayahi J, Al-Shabeeb Akil AS, Aliyev E, van Binsbergen E, Janssen EJ, Mehrin KM, Oishi H, Kobayashi R, Horii T, Hatada I, Saito A, Hattori M, Kawano Y, Lewis PA, Heesom KJ, Takarada T, Sawamoto K, Matsushita M, Ogi T, Butkovic R, Danson C, Wilkinson KA, Fakhro KA, Zaki MS, Saitoh S, Cullen PJ. Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy. Sci Transl Med. 2025 Jul 2;17(805):eadt2426.

Moriura Y, Nishio Y, Ichimura S, Noda H, Tanahashi Y, Yamamoto H, Nakazawa Y, Oso T, Sato Y, Takenouchi T, Saitoh S, Muramatsu Y, Ogi T*. De novo CDKN1C variant in Beckwith-Wiedermann spectrum with atypical complications. Hum Genome Var. 2025 May 28;12(1):9.

Shimizu N, Mashimo Y, Yokouchi H, Nishio Y, Sawai S, Ichikawa T, Ogi T, Baba T, Onouchi Y. Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping. J Hum Genet. 2025 Apr;70(4):199-205.

Sato R, Adachi R, Yokoi N, Tsujimura K, Egawa R, Hara Y, Fukata Y, Fukata M, Ogi T, Sone M, Kuba H. Loss of neuronal activity facilitates surface accumulation of p75NTR and cell death in avian cochlear nucleus. Neurosci Res. 2025 Apr;213:23-34.

Kurahashi H, Azuma Y, Takeuchi T, Shimada M, Numoto S, Nishida M, Ito Y, Ogi T, Okumura A. Paroxysmal Kinesigenic Dyskinesia in Two Siblings With Novel Heterozygous TMEM151A Frameshift Variant: The First Case Report in Japan. Am J Med Genet A. 2025 Apr 1:e64079.

Ebata A, Takeichi T, Nishida K, Chretien B, Miyazaki A, Yoshikawa T, Suzuki Y, Tanahashi K, Fukaura R, Seishima M, Suga Y, Muro Y, Nakazawa Y, Ogi T, Akiyama M. Estimating the proportions of allele frequencies for SERPINA12 pathogenic variants in Japanese patients with Nagashima-type palmoplantar keratosis/keratoderma. Br J Dermatol. 2025 Mar 26:ljaf111.

Furukawa S, Kushima I, Kato H, Kimura H, Nawa Y, Aleksic B, Banno M, Yamamoto M, Uematsu M, Nagasaki Y, Ogi T, Ozaki N, Ikeda M. Whole-genome sequencing analysis of Japanese autism spectrum disorder trios. Psychiatry Clin Neurosci. 2025 Mar;79(3):87-97.

Le May N, Courraud J, Boujelbène I, Obringer C, Ogi T, Lehmann AR, Laffargue F, Lehalle D, Mizuno S, Mohammed S, Ormières C, Willems M, Laugel V, Calmels N. Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome. Front Neurosci. 2025 Mar 26;19:1554093.

Fuma K, Iitani Y, Imai K, Ushida T, Tano S, Yoshida K, Yokoi A, Miki R, Kidokoro H, Sato Y, Hara Y, Ogi T, Nomaki K, Tsuda M, Komine O, Yamanaka K, Kajiyama H, Kotani T. Prenatal inflammation impairs early CD11c-positive microglia induction and delays myelination in neurodevelopmental disorders. Commun Biol. 2025 Jan 17;8(1):75.

Nishikawa M, Hayashi S, Nakayama A, Nishio Y, Shiraki A, Ito H, Maruyama K, Muramatsu Y, Ogi T, Mizuno S, Nagata KI. Pathophysiological significance of the p.E31G variant in RAC1 responsible for a neurodevelopmental disorder with microcephaly. Biochim Biophys Acta Mol Basis Dis. 2025 Jan;1871(1):167520.

Hamaguchi T, Ohara M, Hisatomi A, Sekiguchi K, Takeda JI, Ueyama J, Ito M, Nishiwaki H, Ogi T, Hirayama M, Ohkuma M, Sakamoto M, Ohno K. Desulfovibrio falkowii sp. nov., Porphyromonas miyakawae sp. nov., Mediterraneibacter flintii sp. nov. and Owariibacterium komagatae gen. nov., sp. nov., isolated from human faeces. Int J Syst Evol Microbiol. 2025 Jan;75(1).

Furukawa S, Arafuka S, Kato H, Ogi T, Ozaki N, Ikeda M, Kushima I. Treatment-resistant schizophrenia with 22q11.2 deletion and additional genetic defects. Neuropsychopharmacol Rep. 2024 Dec;44(4):847-851.

Hojo M, Soma N, Yamada K, Kobayashi Y, Miura M, Fujii H, Nyuzuki H, Nishio Y, Oso T, Ogi T, Ikeuchi T, Tohyama J. Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant. Hum Genome Var. 2024 Dec 4;11(1):45.

Horiuchi M, Watanabe S, Komine O, Takahashi E, Kaneko K, Itohara S, Shimada M, Ogi T, Yamanaka K. ALS-linked mutant TDP-43 in oligodendrocytes induces oligodendrocyte damage and exacerbates motor dysfunction in mice. Acta Neuropathol Commun. 2024 Nov 27;12(1):184.

Yasuda T, Nakajima N, Ogi T, Yanaka T, Tanaka I, Gotoh T, Kagawa W, Sugasawa K, Tajima K. Heavy water inhibits DNA double-strand break repairs and disturbs cellular transcription, presumably via quantum-level mechanisms of kinetic isotope effects on hydrolytic enzyme reactions. PLoS One. 2024 Oct 3;19(10):e0309689.

Sako A, Matsuse M, Saenko V, Tanaka A, Otsubo R, Morita M, Kuba S, Nishihara E, Suzuki K, Ogi T, Kawakami A, Mitsutake N. TERT promoter mutations increase tumor aggressiveness by altering TERT mRNA splicing in papillary thyroid carcinoma. J Clin Endocrinol Metab. 2024 Sep 16;109(10):e1827-e1838.

Misaki M, Takeichi T, Omi M, Ito Y, Ogi T, Muro Y, Akiyama M. Localized epidermolysis bullosa simplex caused by a previously unreported substitution in the linker 12 domain of keratin 14. J Dermatol. 2024 Aug;51(8):e264-e265.

Llerena Schiffmacher DA, Lee SH, Kliza KW, Theil AF, Akita M, Helfricht A, Bezstarosti K, Gonzalo-Hansen C, van Attikum H, Verlaan-de Vries M, Vertegaal ACO, Hoeijmakers JHJ, Marteijn JA, Lans H, Demmers JAA, Vermeulen M, Sixma TK, Ogi T, Vermeulen W, Pines A. The small CRL4CSA ubiquitin ligase component DDA1 regulates transcription-coupled repair dynamics. Nat Commun. 2024 Jul 29;15(1):6374.

Farshadyeganeh P, Yamada T, Ohashi H, Nishimura G, Fujita H, Oishi Y, Nunode M, Ishikawa S, Murotsuki J, Yamashita Y, Ikegawa S, Ogi T, Arikawa-Hirasawa E, Ohno K. Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients. J Hum Genet. 2024 Jun;69(6):235-244.

Omi M, Takeichi T, Ito Y, Yoshikawa T, Mizutani Y, Nagai M, Seishima M, Ogi T, Muro Y, Akiyama M. Two patients with Hailey-Hailey disease with novel pathogenic ATP2C1 variants suggesting possible genotype/phenotype correlations. J Dermatol. 2024 Jun;51(6):e185-e187.

Oka Y, Nakazawa Y, Shimada M, Ogi T*. Endogenous aldehyde-induced DNA-protein crosslinks are resolved by transcription-coupled repair. Nat Cell Biol. 2024 May;26(5):784-796.

Shimomura-Ishihara M, Takeichi T, Noda T, Koizumi H, Mitsuma T, Ogi T, Muro Y, Akiyama M. Natal teeth, hypoplasia of the first toe, and growth retardation in a patient with severe epidermolysis bullosa simplex. J Dermatol. 2024 May;51(5):e175-e177.

Yoshikawa T, Takeichi T, Nishida K, Kobayashi Y, Sano H, Shibata A, Koizumi H, Tsutsumi R, Fukaura R, Hayashi M, Imanishi A, Nakamura K, Mikoshiba Y, Ogawa E, Sano S, Kinoshita M, Okamoto T, Kageyama R, Sano Y, Kaneko S, Aoi J, Hara T, Togawa Y, Kishibe M, Yoshida Y, Yagi H, Honda T, Sugiura K, Sano S, Suzuki T, Ogi T, Muro Y, Akiyama M. MEFV variants are a predisposing factor for generalized pustular psoriasis. J Am Acad Dermatol. 2024 Apr;90(4):852-854.

Noda T, Takeichi T, Tanahashi K, Ogawa Y, Takeuchi S, Yoshikawa T, Toriyama E, Ashida M, Imakado S, Tsuchihashi H, Okamoto T, Okuno Y, Ogi T, Sugiura K, Kubo A, Muro Y, Suga Y, Ishida-Yamamoto A, Akiyama M. Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants. Exp Dermatol. 2024 Apr;33(4):e15072.

Ohkawara B, Tomita H, Inoue T, Zhang S, Kanbara S, Koshimizu H, Miyasaka Y, Takeda JI, Nishiwaki H, Nakashima H, Ito M, Masuda A, Ishiguro N, Ogi T, Ohno T, Imagama S, Ohno K. Calcitriol ameliorates motor deficits and prolongs survival of Chrne-deficient mouse, a model for congenital myasthenic syndrome, by inducing Rspo2. Neurotherapeutics. 2024 Mar;21(2):e00318.

Nyuzuki H, Ozawa J, Nagasaki K, Nishio Y, Ogi T, Tohyama J, Ikeuchi T. A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant. Hum Genome Var. 2024 Feb 22;11(1):8.

Komine O, Ohnuma S, Hinohara K, Hara Y, Shimada M, Akashi T, Watanabe S, Sobue A, Kawade N, Ogi T, Yamanaka K. Genetic background variation impacts microglial heterogeneity and disease progression in amyotrophic lateral sclerosis model mice. iScience. 2024 Jan 11;27(2):108872.

Takeichi T, Hamada T, Yamamoto M, Ito Y, Kawaguchi A, Kobashi H, Yoshikawa T, Koga H, Ishii N, Nakama T, Muro Y, Ogi T, Akiyama M. Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes. J Dermatol. 2024 Jan;51(1):101-105.

Okumura T, Horiba K, Tetsuka N, Sato Y, Sugiyama Y, Haruta K, Yamaguchi M, Suzuki T, Torii Y, Kawada JI, Ogi T, Hayakawa M, Ito Y. Next-generation sequencing-based detection of Ureaplasma in the gastric fluid of neonates with respiratory distress and chorioamnionitis. J Matern Fetal Neonatal Med. 2023 Dec;36(1):2207113.

Itoh M, Tamura A, Kanai S, Tanaka M, Kanamori Y, Shirakawa I, Ito A, Oka Y, Hidaka I, Takami T, Honda Y, Maeda M, Saito Y, Murata Y, Matozaki T, Nakajima A, Kataoka Y, Ogi T, Ogawa Y, Suganami T. Lysosomal cholesterol overload in macrophages promotes liver fibrosis in a mouse model of NASH. J Exp Med. 2023 Nov 6;220(11):e20220681.

Watanabe S, Murata Y, Oka Y, Oiwa K, Horiuchi M, Iguchi Y, Komine O, Sobue A, Katsuno M, Ogi T, Yamanaka K. Mitochondria-associated membrane collapse impairs TBK1-mediated proteostatic stress response in ALS. Proc Natl Acad Sci U S A. 2023 Nov 21;120(47):e2315347120.

Huang Z, Ito M, Zhang S, Toda T, Takeda JI, Ogi T, Ohno K. Extremely low-frequency electromagnetic field induces acetylation of heat shock proteins and enhances protein folding. Ecotoxicol Environ Saf. 2023 Oct 1;264:115482.

Llerena Schiffmacher DA, Kliza KW, Theil AF, Kremers GJ, Demmers JAA, Ogi T, Vermeulen M, Vermeulen W, Pines A. Live cell transcription-coupled nucleotide excision repair dynamics revisited. DNA Repair (Amst). 2023 Oct;130:103566.

Tomita A, Sasanuma H, Owa T, Nakazawa Y, Shimada M, Fukuoka T, Ogi T, Nakada S. Inducing multiple nicks promotes interhomolog homologous recombination to correct heterozygous mutations in somatic cells. Nat Commun. 2023 Sep 15;14(1):5607.

Senju C, Nakazawa Y , Oso T, Shimada M, Kato K, Matsuse M, Tsujimoto M, Masaki T, Miyazaki Y, Fukushima S, Tateishi S, Utani A, Murota H, Tanaka K, Mitsutake N, Moriwaki S, Nishigori C, Ogi T*. Deep intronic founder mutations identified in the ERCC4/XPF gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum. Proc Natl Acad Sci U S A. 2023 Jul 4;120(27):e2217423120.

Tsujimoto M, Nakano E, Nakazawa Y, Kanda F, Ueda T, Ogi T, Nishigori C. A case of Cockayne syndrome with unusually mild clinical manifestations. J Dermatol. 2023 Apr;50(4):541-545.

Takahashi N, Takeichi T, Nishida T, Takahashi Y, Sato J, Yamamura M, Ogi T, Akiyama M. Extensive multiple organ involvement in VEXAS syndrome. Arthritis Rheumatol. 2021 Oct;73(10):1896-1897.

Yoshioka N, Tanaka M, Ochi K, Watanabe A, Ono K, Sawada M, Ogi T, Itoh M, Ito A, Shiraki Y, Enomoto A, Ishigami M, Fujishiro M, Ogawa Y, Suganami T. The sodium-glucose cotransporter-2 inhibitor Tofogliflozin prevents the progression of nonalcoholic steatohepatitis-associated liver tumors in a novel murine model. Biomed Pharmacother. 2021 Aug;140:111738.

Ito Y, Takeichi T, Ikeda K, Tanahashi K, Yoshikawa T, Murase Y, Muro Y, Kawakami Y, Nakamura Y, Matsuyama K, Muto J, Oiso N, Morizane S, Sugiura K, Suga Y, Seishima M, Kawada A, Ogi T, Akiyama M. Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma. J Dermatol Sci. 2021 Aug;103(2):116-119.

Botta E, Theil AF, Raams A, Caligiuri G, Giachetti S, Bione S, Accadia M, Lombardi A, Smith DEC, Mendes MI, Swagemakers SMA, van der Spek PJ, Salomons GS, Hoeijmakers JHJ, Yesodharan D, Nampoothiri S, Ogi T, Lehmann AR, Orioli D, Vermeulen W. Protein instability associated with AARS1 and MARS1 mutations causes Trichothiodystrophy. Hum Mol Genet. 2021 Aug 28;30(18):1711-1720.

Yamashita Y, Taki T, Takeichi T, Okumura M, Mori S, Ito Y, Ogi T, Yamada M, Akiyama M. Cutaneous malignant melanoma in an elderly patient with intermediate junctional epidermolysis bullosa. J Dermatol. 2021 Aug;48(8):e384-e385.

van der Weegen Y, de Lint K, van den Heuvel D, Nakazawa Y, Mevissen TET, van Schie JJM, San Martin Alonso M, Boer DEC, González-Prieto R, Narayanan IV, Klaassen NHM, Wondergem AP, Roohollahi K, Dorsman JC, Hara Y, Vertegaal ACO, de Lange J, Walter JC, Noordermeer SM, Ljungman M, Ogi T, Wolthuis RMF, Luijsterburg MS. ELOF1 is a transcription-coupled DNA repair factor that directs RNA polymerase II ubiquitylation. Nat Cell Biol. 2021 Jun;23(6):595-607.

Murase C, Takeichi T, Nomura T, Ogi T, Akiyama M. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants. J Invest Dermatol. 2021 Jun;141(6):1596-1598.

Jiang W, Jia N, Guo C, Wen J, Wu L, Ogi T*, Zhang H. Predominant cellular mitochondrial dysfunction in the TOP3A gene-caused Bloom syndrome-like disorder. Biochim Biophys Acta Mol Basis Dis. 2021 Jun 1;1867(6):166106.

Horiba K, Suzuki M, Tetsuka N, Kawano Y, Yamaguchi M, Okumura T, Suzuki T, Torii Y, Kawada JI, Morita M, Hara S, Ogi T, Ito Y. Pediatric sepsis cases diagnosed with group B streptococcal meningitis using next-generation sequencing: a report of two cases. BMC Infect Dis. 2021 Jun 5;21(1):531.

Ikeya S, Takeichi T, Taki T, Muro Y, Ogi T, Akiyama M. Paradoxical Reaction in a Patient with Hidradenitis Suppurativa Undergoing Adalimumab Treatment. Acta Derm Venereol. 2021 Jun 28;101(6):adv00484.

Ito Y, Takeichi T, Igari S, Mori T, Ono A, Suyama K, Takeuchi S, Muro Y, Ogi T, Hosoya M, Yamamoto T, Akiyama M. MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1. J Eur Acad Dermatol Venereol. 2021 May;35(5):e345-e347.

Murase C, Takeichi T, Taki T, Yoshikawa T, Suzuki A, Ogi T, Suga Y, Akiyama M. Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome. J Dermatol Sci. 2021 May;102(2):126-129.

Horiba K, Torii Y, Okumura T, Takeuchi S, Suzuki T, Kawada JI, Muramatsu H, Takahashi Y, Ogi T, Ito Y. Next-Generation Sequencing to Detect Pathogens in Pediatric Febrile Neutropenia: A Single-Center Retrospective Study of 112 Cases. Open Forum Infect Dis. 2021 May 4;8(11):ofab223.

Kaibuchi-Ando K, Takeichi T, Ito Y, Takeuchi S, Yamashita Y, Yamada M, Muro Y, Ogi T, Akiyama M. Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome. Nagoya J Med Sci. 2021 May;83(2):393-396.

Ando T, Nakamura R, Kuru S, Yokoi D, Atsuta N, Koike H, Suzuki M, Hara K, Iguchi Y, Harada Y, Yoshida Y, Hattori M, Murakami A, Noda S, Kimura S, Sone J, Nakamura T, Goto Y, Mano K, Okada H, Okuda S, Nishino I, Ogi T, Sobue G, Katsuno M. The wide-ranging clinical and genetic features in Japanese families with valosin-containing protein proteinopathy. Neurobiol Aging. 2021 Apr;100:120.e1-120.e6.

Okumura T, Horiba K, Kamei H, Takeuchi S, Suzuki T, Torii Y, Kawada JI, Takahashi Y, Ogura Y, Ogi T, Ito Y. Temporal dynamics of the plasma microbiome in recipients at early post-liver transplantation: a retrospective study. BMC Microbiol. 2021 Apr 6;21(1):104.

Takeuchi S, Takeichi T, Ito Y, Tanahashi K, Muro Y, Ogi T, Akiyama M. Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing. Eur J Dermatol. 2021 Apr 1;31(2):264-265.

Arisawa Y, Ito Y, Tanahashi K, Muro Y, Ogi T, Takeichi T, Akiyama M. Two Cases of Porokeratosis with MVD Mutations, in Association with Bullous Pemphigoid. Acta Derm Venereol. 2021 Mar 31;101(3):adv00423.

Sobue A, Komine O, Hara Y, Endo F, Mizoguchi H, Watanabe S, Murayama S, Saito T, Saido TC, Sahara N, Higuchi M, Ogi T, Yamanaka K. Microglial gene signature reveals loss of homeostatic microglia associated with neurodegeneration of Alzheimer's disease. Acta Neuropathol Commun. 2021 Jan 5;9(1):1.

Kato K, Mizuno S, Morton J, Toyama M, Hara Y, Wasmer E, Lehmann A, Ogi T*. Expanding the phenotype of biallelic loss-of-function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications. Am J Med Genet A. 2021 Jan;185(1):282-285.

Nakazawa Y, Hara Y, Oka Y, Komine O, Heuvel D, Guo C, Daigaku Y, Isono M, He Y, Shimada M, Katoh K, Jia N, Hashimoto S, Kotani Y, Miyoshi Y, Tanaka M, Sobue A, Mitsutake N, Suganami T, Masuda A, Ohno K, Nakada S, Mashimo T, Yamanaka K, Luijsterburg M, Ogi T§. Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair.  Cell 180(6): 1228-1244 (2020). doi: 10.1016/j.cell.2020.02.010.

Oka Y, Hamada M*, Nakazawa Y *, Muramatsu H*, Okuno Y*, Higasa K*, Shimada M, Takeshima H, Hanada K, Hirano T, Kawakita T, Sakaguchi H, Ichimura T, Ozono S, Yuge K, Watanabe Y, Kotani Y, Yamane M, Kasugai Y, Tanaka M, Suganami T, Nakada S, Mitsutake N, Hara Y, Kato K, Mizuno S, Miyake N, Kawai Y, Tokunaga K, Nagasaki M, Kito S, Isoyama K, Onodera M, Kaneko H, Matsumoto N, Matsuda F, Matsuo K, Takahashi Y, Mashimo T, Kojima S, Ogi T§. Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.  Science Advances 6(51): eabd7197 (2020). doi: 10.1126/sciadv.abd7197.

Ono R; Masaki T; Mayca Pozo F; Nakazawa Y; Swagemakers SM; Nakano E; Sakai W; Takeuchi S; Kanda F; Ogi T; van der Spek PJ; Sugasawa K; Nishigori C, 2016. A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing.  Photodermatol Photoimmunol Photomed.

Jia N; Nakazawa Y; Guo C; Shimada M; Sethi M; Takahashi Y; Ueda H; Nagayama Y; Ogi T, 2015. A rapid, comprehensive system for assaying DNA repair activity and cytotoxic effects of DNA-damaging reagents.  Nat Protoc 10(1):12-24

Tamura S; Higuchi K; Tamaki M; Inoue C; Awazawa R; Mitsuki N; Nakazawa Y; Mishima H; Takahashi K; Kondo O; Imai K; Morio T; Ohara O; Ogi T; Furukawa F; Inoue M; Yoshiura K; Kanazawa N, 2015. Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.  Clin Immunol 160(2):255-60

Guo CY; Luo L; Urata Y; Goto S; Huang WJ; Takamura S; Hayashi F; Doi H; Kitajima Y; Ono Y; Ogi T; Li TS, 2015. Sensitivity and dose dependency of radiation-induced injury in hematopoietic stem/progenitor cells in mice.  Sci Rep 5:8055

Alagoz M; Katsuki Y; Ogiwara H; Ogi T; Shibata A; Kakarougkas A; Jeggo P, 2015. SETDB1, HP1 and SUV39 promote repositioning of 53BP1 to extend resection during homologous recombination in G2 cells.  Nucleic Acids Res 43(16):7931-44

Guo C; Nakazawa Y; Woodbine L; Björkman A; Shimada M; Fawcett H; Jia N; Ohyama K; Li TS; Nagayama Y; Mitsutake N; Pan-Hammarström Q; Gennery AR; Lehmann AR; Jeggo PA; Ogi T, 2015. XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.  J Allergy Clin Immunol 136(4):1007-17

Baple EL; Chambers H; Cross HE; Fawcett H; Nakazawa Y; Chioza BA; Harlalka GV; Mansour S; Sreekantan-Nair A; Patton MA; Muggenthaler M; Rich P; Wagner K; Coblentz R; Stein CK; Last JI; Taylor AM; Jackson AP; Ogi T; Lehmann AR; Green CM; Crosby AH, 2014. Hypomorphic PCNA mutation underlies a human DNA repair disorder.  J Clin Invest 124(7):3137-46

Matsuse M; Mitsutake N; Tanimura S; Ogi T; Nishihara E; Hirokawa M; Fuziwara CS; Saenko VA; Suzuki K; Miyauchi A; Yamashita S, 2013. Functional characterization of the novel BRAF complex mutation, BRAF(V600delinsYM) , identified in papillary thyroid carcinoma.  Int J Cancer 132(3):738-43

Kashiyama K; Nakazawa Y; Pilz DT; Guo C; Shimada M; Sasaki K; Fawcett H; Wing JF; Lewin SO; Carr L; Li TS; Yoshiura K; Utani A; Hirano A; Yamashita S; Greenblatt D; Nardo T; Stefanini M; McGibbon D; Sarkany R; Fassihi H; Takahashi Y; Nagayama Y; Mitsutake N; Lehmann AR; Ogi T, 2013. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. Am J Hum Genet 92(5):807-19

Woodbine L; Neal JA; Sasi NK; Shimada M; Deem K; Coleman H; Dobyns WB; Ogi T; Meek K; Davies EG; Jeggo PA, 2013. PRKDC mutations in a SCID patient with profound neurological abnormalities. J Clin Invest 123(7):2969-80

Ogi T; Nakazawa Y; Sasaki K; Guo C; Yoshiura K; Utani A; Nagayama Y, 2013. [Molecular cloning and characterisation of UVSSA, the responsible gene for UV-sensitive syndrome]. Seikagaku 85(3):133-44

Kashiyama K; Mitsutake N; Matsuse M; Ogi T; Saenko VA; Ujifuku K; Utani A; Hirano A; Yamashita S, 2012. miR-196a downregulation increases the expression of type I and III collagens in keloid fibroblasts.  J Invest Dermatol 132(6):1597-604

Nakazawa Y; Sasaki K; Mitsutake N; Matsuse M; Shimada M; Nardo T; Takahashi Y; Ohyama K; Ito K; Mishima H; Nomura M; Kinoshita A; Ono S; Takenaka K; Masuyama R; Kudo T; Slor H; Utani A; Tateishi S; Yamashita S; Stefanini M; Lehmann AR; Yoshiura K; Ogi T, 2012. Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.  Nat Genet 44(5):586-92

Ogi T; Walker S; Stiff T; Hobson E; Limsirichaikul S; Carpenter G; Prescott K; Suri M; Byrd PJ; Matsuse M; Mitsutake N; Nakazawa Y; Vasudevan P; Barrow M; Stewart GS; Taylor AM; O'Driscoll M; Jeggo PA, 2012. Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.  PLoS Genet 8(11):e1002945

Matsumoto Y; Miyamoto T; Sakamoto H; Izumi H; Nakazawa Y; Ogi T; Tahara H; Oku S; Hiramoto A; Shiiki T; Fujisawa Y; Ohashi H; Sakemi Y; Matsuura S, 2011. Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.  DNA Repair (Amst) 10(3):314-21

Nakamura K; Kogame T; Oshiumi H; Shinohara A; Sumitomo Y; Agama K; Pommier Y; Tsutsui KM; Tsutsui K; Hartsuiker E; Ogi T; Takeda S; Taniguchi Y, 2010. Collaborative action of Brca1 and CtIP in elimination of covalent modifications from double-strand breaks to facilitate subsequent break repair.  PLoS Genet 6(1):e1000828

Ogi T; Limsirichaikul S; Overmeer RM; Volker M; Takenaka K; Cloney R; Nakazawa Y; Niimi A; Miki Y; Jaspers NG; Mullenders LH; Yamashita S; Fousteri MI; Lehmann AR, 2010. Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cells.  Mol Cell 37(5):714-27

Nakazawa Y; Yamashita S; Lehmann AR; Ogi T, 2010. A semi-automated non-radioactive system for measuring recovery of RNA synthesis and unscheduled DNA synthesis using ethynyluracil derivatives.  DNA Repair (Amst) 9(5):506-16

Limsirichaikul S; Niimi A; Fawcett H; Lehmann A; Yamashita S; Ogi T, 2009. A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU).  Nucleic Acids Res 37(4):e31

Sukumar N; Mishra M; Sloan GP; Ogi T; Deora R, 2007. Differential Bvg phase-dependent regulation and combinatorial role in pathogenesis of two Bordetella paralogs, BipA and BcfA.  J Bacteriol 189(10):3695-704

Lehmann AR; Niimi A; Ogi T; Brown S; Sabbioneda S; Wing JF; Kannouche PL; Green CM, 2007. Translesion synthesis: Y-family polymerases and the polymerase switch.  DNA Repair (Amst) 6(7):891-9

Takenaka K; Ogi T; Okada T; Sonoda E; Guo C; Friedberg EC; Takeda S, 2006. Involvement of vertebrate Polkappa in translesion DNA synthesis across DNA monoalkylation damage.  J Biol Chem 281(4):2000-4

Ogi T; Lehmann AR, 2006. The Y-family DNA polymerase kappa (pol kappa) functions in mammalian nucleotide-excision repair.  Nat Cell Biol 8(6):640-2

Ogi T; Kannouche P; Lehmann AR, 2005. Localisation of human Y-family DNA polymerase kappa: relationship to PCNA foci.  J Cell Sci 118(Pt 1):129-36

Bavoux C; Leopoldino AM; Bergoglio V; O-Wang J; Ogi T; Bieth A; Judde JG; Pena SD; Poupon MF; Helleday T; Tagawa M; Machado C; Hoffmann JS; Cazaux C, 2005. Up-regulation of the error-prone DNA polymerase {kappa} promotes pleiotropic genetic alterations and tumorigenesis.  Cancer Res 65(1):325-30

Stafford GP; Ogi T; Hughes C, 2005. Binding and transcriptional activation of non-flagellar genes by the Escherichia coli flagellar master regulator FlhD2C2.  Microbiology 151(Pt 6):1779-88

Wang Y; Seimiya M; Kawamura K; Yu L; Ogi T; Takenaga K; Shishikura T; Nakagawara A; Sakiyama S; Tagawa M; O-Wang J, 2004. Elevated expression of DNA polymerase kappa in human lung cancer is associated with p53 inactivation: Negative regulation of POLK promoter activity by p53.  Int J Oncol 25(1):161-5

Ohmori H; Ohashi E; Ogi T, 2004. Mammalian Pol kappa: regulation of its expression and lesion substrates.  Adv Protein Chem 69:265-78

Schuster M; Lostroh CP; Ogi T; Greenberg EP, 2003. Identification, timing, and signal specificity of Pseudomonas aeruginosa quorum-controlled genes: a transcriptome analysis.  J Bacteriol 185(7):2066-79

Shimizu T; Shinkai Y; Ogi T; Ohmori H; Azuma T, 2003. The absence of DNA polymerase kappa does not affect somatic hypermutation of the mouse immunoglobulin heavy chain gene.  Immunol Lett 86(3):265-70

Ohashi E; Ogi T; Ohmori H, 2002. [Biochemical studies of human DNA polymerase kappa and its transcriptional regulation].  Seikagaku 74(3):218-23

Ogi T; Shinkai Y; Tanaka K; Ohmori H, 2002. Polkappa protects mammalian cells against the lethal and mutagenic effects of benzo[a]pyrene.  Proc Natl Acad Sci U S A 99(24):15548-53

Publication list retrieved from NCBI using ImpactPubs