Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Kyoko Imoto"'
Autor:
Jeffrey P Sagun, Sikandar G Khan, Kyoko Imoto, Deborah Tamura, Kyu-Seon Oh, John J DiGiovanna, Kenneth H Kraemer
Publikováno v:
PLoS Genetics, Vol 20, Iss 12, p e1011265 (2024)
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by pathogenic variants in seven nucleotide excision repair genes (XPA to XPG) and POLH involved in translesion synthesis. XP patients have a >1000-fold increased risk for sunligh
Externí odkaz:
https://doaj.org/article/a8b64b8e492c41c58ea3cd0ae3ebcc06
Publikováno v:
Journal of Dermatological Science. 75:94-99
Background Epidermal growth factor receptor inhibitors (EGFRIs) have developed as one of the potential treatment options for various kinds of cancers. Although a variety of dermatological adverse reactions such as follicular acneiform eruptions is co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2efc2deeaad757348580b135a32c0e2d
https://doi.org/10.1016/j.jdermsci.2014.04.011
https://doi.org/10.1016/j.jdermsci.2014.04.011
Autor:
Kenneth H. Kraemer, Shinichi Moriwaki, Steffen Emmert, Kyu Seon Oh, Porcia T. Bradford, Deborah Tamura, Nicholas T. Iliff, Brian P. Brooks, Chi-Chao Chan, John J. DiGiovanna, Wadih M. Zein, Sikandar G. Khan, Hiroki Inui, Takahiro Ueda, Janine A. Clayton, Kyoko Imoto, Jennifer Boyle, Ekaterini Tsilou, Amy H. Thompson, Rachel Bishop
Publikováno v:
Ophthalmology. 120:1324-1336
Objective Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations in DNA repair genes. Clinical manifestations of XP include mild to extreme sensitivity to ultraviolet radiation resulting in inflammation and neoplasia in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::158283c2c2fa6c39b58eca35847d6288
https://doi.org/10.1016/j.ophtha.2012.12.044
https://doi.org/10.1016/j.ophtha.2012.12.044
Autor:
Hiroyuki Fujita, Kyoko Imoto, Nobuhiko Kobayashi, Mikiko Tohyama, Hideaki Watanabe, Ayako Hasegawa, Fumi Miyagawa, Hirohiko Sueki, Michiko Aihara, Kayoko Ito, Kohei Ogawa, Hideo Asada
Publikováno v:
European Journal of Dermatology. 25:87-89
Drug-induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms (DIHS/DRESS) and Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) are two of a triad of severe cutaneous adverse reactions (SCAR) to drugs [1, 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b5ee33cbc343f6781256cf2823595fb
https://doi.org/10.1684/ejd.2014.2477
https://doi.org/10.1684/ejd.2014.2477
Autor:
Edythe Wiggs, Carl C. Baker, Deborah Tamura, Kenneth H. Kraemer, Chris Zalewski, Tala Shahlavi, Steffen Emmert, John J. DiGiovanna, Kyu-Seon Oh, Raphael Schiffmann, Marcy Neuburg, Carmen C. Brewer, Kyoko Imoto, Najealicka Armstrong, Sikandar G. Khan
Publikováno v:
DNA Repair. 8:114-125
Two unrelated xeroderma pigmentosum (XP) patients, with and without neurological abnormalities, respectively, had identical defects in the XPC DNA nucleotide excision repair (NER) gene. Patient XP21BE, a 27-year-old woman, had developmental delay and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10468735caad1c8aa402f65f2fd617b4
https://doi.org/10.1016/j.dnarep.2008.09.007
https://doi.org/10.1016/j.dnarep.2008.09.007
Autor:
Jennifer Boyle, Jared Jagdeo, John J. DiGiovanna, Kyu Seon Oh, Kyoko Imoto, Deborah Tamura, Carine Nadem, Takahiro Ueda, Kenneth H. Kraemer, Sikandar G. Khan
Publikováno v:
Human Mutation. 29:1194-1208
Patients with xeroderma pigmentosum (XP) have a 1,000-fold increase in ultraviolet (UV)-induced skin cancers while trichothiodystrophy (TTD) patients, despite mutations in the same genes, ERCC2 (XPD) or ERCC3 (XPB), are cancer-free. Unlike XP cells,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::336efb51efc4b351392d72f86f0154f4
https://doi.org/10.1002/humu.20768
https://doi.org/10.1002/humu.20768
Publikováno v:
DNA Repair. 6:1359-1370
The XPB DNA helicase, a subunit of the basal transcription factor TFIIH, is also involved in nucleotide excision repair (NER). We examined recruitment of NER proteins in XP-B cells from patients with mild or severe xeroderma pigmentosum (XP) having d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2717ff6bcee306e62c6efe15e1d67940
https://doi.org/10.1016/j.dnarep.2007.03.025
https://doi.org/10.1016/j.dnarep.2007.03.025
Autor:
Taka Aki Iwamoto, Takao Kiriyama, Satoshi Ueno, Shingo Kariya, Makito Hirano, Keiji Shimada, Yoshiko Furiya, Tetsuya Nagata, Masashi Aoki, Akira Yasui, Noboru Konishi, Li Lan, Tomohisa Nishiwaki, Yasuto Itoyama, Aya Yamamoto, Toshio Mori, Kyoko Imoto, Nobuhiko Kobayashi, Hirohide Asai
Publikováno v:
Annals of Neurology. 61:162-174
Objective Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive form of cerebellar ataxia. The causative protein for EAOH/AOA1, aprataxin (APTX), interacts with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ac9cde9734ccb8759b5414048d7dddd
https://doi.org/10.1002/ana.21078
https://doi.org/10.1002/ana.21078
Autor:
Aya Yamamoto, Sachiko Katsumi, Yoko Nishiwaki, Kyoko Imoto, Nobuhiko Kobayashi, Toshihiko Shirai, Alain Sarasin, Takaaki Iwamoto, Sachiko Miyagawa, Yu Nakamura, Toshio Mori, Shigeki Sugiura
Publikováno v:
Journal of Investigative Dermatology. 122:526-532
A photosensitive form of trichothiodystrophy (TTD) results from mutations in the same XPD gene as the DNA-repair-deficient genetic disorder xeroderma pigmentosum group D (XP-D). Nevertheless, unlike XP, no increase in skin cancers appears in patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7de2a82dcd0706eb46fe4de52d28c85c
https://doi.org/10.1046/j.0022-202x.2004.22226.x
https://doi.org/10.1046/j.0022-202x.2004.22226.x
Autor:
Minao Furumura, Toshio Mori, Kyoko Imoto, Nobuhiko Kobayashi, Sachiko Katsumi, Akemi Nakagawa, Sachiko Miyagawa
Publikováno v:
Pigment Cell Research. 14:94-102
The major types of DNA damage induced by sunlight in the skin are DNA photoproducts, such as cyclobutane pyrimidine dimers (CPDs), (6-4)photoproducts (6-4PPs) and Dewar isomers of 6-4PPs. A sensitive method for quantitating and visualizing each type
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bbd68077e0715f393c55c141badecde7
https://doi.org/10.1034/j.1600-0749.2001.140204.x
https://doi.org/10.1034/j.1600-0749.2001.140204.x