Papers - NAKAZAWA Yuka
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Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. Reviewed
Kato K, Okuno Y, Vasilev FF, Otomo T, Oishi H, Muramatsu H, Kawano Y, Oka Y, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S.
Journal of Medical genetics Vol. 117 ( 25 ) page： 14412 - 14420 2020.4
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Hailey-Hailey disease with oesophageal involvement due to a previously unreported ATP2C1 mutation.
Kono M, Kodera M, Inasaka Y, Hasegawa I, Muro Y, Nakazawa Y, Ogi T, Akiyama M
European journal of dermatology : EJD 2019.8
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JAK/STAT3 and NF-κB Signaling Pathways Regulate Cancer Stem-Cell Properties in Anaplastic Thyroid Cancer Cells. Reviewed
Vol. 29 ( 5 ) page： 674-682 2019.5
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A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation. Reviewed Open Access
Kono M, Sawada M, Nakazawa Y, Ogi T, Muro Y, Akiyama M
Acta dermato-venereologica Vol. 99 ( 4 ) page： 458 - 459 2019.1
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Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome Reviewed International coauthorship
Calmels Nadege, Botta Elena, Jia Nan, Fawcett Heather, Nardo Tiziana, Nakazawa Yuka, Lanzafame Manuela, Moriwaki Shinichi, Sugita Katsuo, Kubota Masaya, Obringer Cathy, Spitz Marie-Aude, Stefanini Miria, Laugel Vincent, Orioli Donata, Ogi Tomoo, Lehmann Alan Robert
JOURNAL OF MEDICAL GENETICS Vol. 55 ( 5 ) page： 329-343 2018.5
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Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations
Doi Hiroshi, Koyano Shigeru, Miyatake Satoko, Nakajima Shinji, Nakazawa Yuka, Kunii Misako, Tomita-Katsumoto Atsuko, Oda Kayoko, Yamaguchi Yukie, Fukai Ryoko, Ikeda Shingo, Kato Rumiko, Ogata Katsuhisa, Kubota Shun, Hayashi Noriko, Takahashi Keita, Tada Mikiko, Tanaka Kenichi, Nakashima Mitsuko, Tsurusaki Yoshinori, Miyake Noriko, Saitsu Hirotomo, Ogi Tomoo, Aihara Michiko, Takeuchi Hideyuki, Matsumoto Naomichi, Tanaka Fumiaki
JOURNAL OF HUMAN GENETICS Vol. 63 ( 4 ) page： 417-423 2018.4
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An adolescent case of xeroderma pigmentosum variant confirmed by the onset of sun exposure-related skin cancer during Crohn's disease treatment
Terada Aoi, Aoshima Masahiro, Tanizaki Hideaki, Nakazawa Yuka, Ogi Tomoo, Tokura Yoshiki, Moriwaki Shinichi
JOURNAL OF CUTANEOUS IMMUNOLOGY AND ALLERGY Vol. 1 ( 1 ) page： 23-26 2018.4
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Novel function of HATs and HDACs in homologous recombination through acetylation of human RAD52 at double-strand break sites Reviewed International coauthorship Open Access
Yasuda Takeshi, Kagawa Wataru, Ogi Tomoo, Kato Takamitsu A., Suzuki Takehiro, Dohmae Naoshi, Takizawa Kazuya, Nakazawa Yuka, Genet Matthew D., Saotome Mika, Hama Michio, Konishi Teruaki, Nakajima Nakako Izumi, Hazawa Masaharu, Tomita Masanori, Koike Manabu, Noshiro Katsuko, Tomiyama Kenichi, Obara Chizuka, Gotoh Takaya, Ui Ayako, Fujimori Akira, Nakayama Fumiaki, Hanaoka Fumio, Sugasawa Kaoru, Okayasu Ryuichi, Jeggo Penny A., Tajima Katsushi
PLOS GENETICS Vol. 14 ( 3 ) page： e1007277 2018.3
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Common TFIIH recruitment mechanism in global genome and transcription-coupled repair subpathways Reviewed Open Access
Okuda Masahiko, Nakazawa Yuka, Guo Chaowan, Ogi Tomoo, Nishimura Yoshifumi
NUCLEIC ACIDS RESEARCH Vol. 45 ( 22 ) page： 13043-13055 2017.12
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ALC1/CHD1L, a chromatin-remodeling enzyme, is required for efficient base excision repair Reviewed Open Access
Tsuda Masataka, Cho Kosai, Ooka Masato, Shimizu Naoto, Watanabe Reiko, Yasui Akira, Nakazawa Yuka, Ogi Tomoo, Harada Hiroshi, Agama Keli, Nakamura Jun, Asada Ryuta, Fujiike Haruna, Sakuma Tetsushi, Yamamoto Takashi, Murai Junko, Hiraoka Masahiro, Koike Kaoru, Pommier Yves, Takeda Shunichi, Hirota Kouji
PLOS ONE Vol. 12 ( 11 ) page： e0188320 2017.11
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Doi Ryoichiro, Tsuchiya Tomoshi, Mitsutake Norisato, Nishimura Satoshi, Matsuu-Matsuyama Mutsumi, Nakazawa Yuka, Ogi Tomoo, Akita Sadanori, Yukawa Hiroshi, Baba Yoshinobu, Yamasaki Naoya, Matsumoto Keitaro, Miyazaki Takuro, Kamohara Ryotaro, Hatachi Go, Sengyoku Hideyori, Watanabe Hironosuke, Obata Tomohiro, Niklason Laura E., Nagayasu Takeshi
SCIENTIFIC REPORTS Vol. 7 ( 1 ) page： 8447 2017.8
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An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities. Reviewed
Takahashi Y, Endo Y, Kusaka-Kikushima A, Nakamaura S, Nakazawa Y, Ogi T, Uryu M, Tsuji G, Furue M, Moriwaki S.
Br J Dermatol Vol. 177 ( 1 ) page： 253-257 2017.5
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PCNA ubiquitylation ensures timely completion of unperturbed DNA replication in fission yeast. Reviewed International coauthorship Open Access
Daigaku Y, Etheridge TJ, Nakazawa Y, Nakayama M, Watson AT, Miyabe I, Ogi T, Osborne MA, Carr AM.
PLoS Genetics Vol. 13 ( 5 ) page： e1006789 2017.5
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A ten-year follow up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole genome sequencing. Reviewed
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§.
Photodermatology Photoimmunology & Photomedicine Vol. 32 page： 174-180 2016.7
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XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency. Reviewed International coauthorship
Guo C*, Nakazawa Y*, Woodbine L*, Bjorkman A, Shimada M, Fawcett H, Jia N, Ohyama K, Li TS, Nagayama Y, Mitsutake N, Pan-Hammarstrom Q, Gennery AR, Lehmann AR, Jeggo PA, Ogi T§.
Journal of Allergy and Clinical Immunology Vol. 136 page： 1007-1017 2015.10
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Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly- progressing radiosensitive-severe combined immunodeficiency. Reviewed
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§.
Journal of Clinical Immunology Vol. 160 page： 255-260 2015.10
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A rapid comprehensive assay system for DNA repair activity and cytotoxic effects of DNA damaging reagents by measuring unscheduled DNA synthesis and recovery of RNA synthesis after DNA damage. Reviewed International coauthorship
Jia N*, Nakazawa Y*, Guo C, Shimada M, Sethi M, Takahashi Y, Ueda H, Nagayama Y, Ogi T§.
Nature Protocols Vol. 10 page： 12-24 2015.1
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Hypomorphic PCNA mutation underlies a human DNA repair disorder. Reviewed International coauthorship
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§.
Journal of Clinical Investigation Vol. 124 page： 3137-3146 2014.7
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Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia. Reviewed International coauthorship
Kashiyama K*, Nakazawa Y*, Pilz D*, Guo C*, Shimada M, Sasaki K, Fawcett H, Wing J, Lewin S, 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§.
American Journal of Human Genetics Vol. 92 page： 807-819 2013.5
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Identification of the First ATRIP-Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR-ATRIP Seckel Syndrome. Reviewed International coauthorship Open Access
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 AMR§, O'Driscoll M§, Jeggo PA§.
PLoS Genetics Vol. 8 page： e1002945 2012.11