論文 - 秋山 真志
-
Early-onset generalized pustular psoriasis is representative of autoinflammatory keratinization diseases.
Akiyama M
The Journal of allergy and clinical immunology 2018年12月
-
Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency
Takeichi Takuya, Okuno Yusuke, Kawamoto Akane, Inoue Takeshi, Nagamoto Eiko, Murase Chiaki, Shimizu Eri, Tanaka Kenichi, Kageshita Yuichi, Fukushima Satoshi, Kono Michihiro, Ishikawa Junko, Ihn Hironobu, Takahashi Yoshiyuki, Akiyama Masashi
JOURNAL OF LIPID RESEARCH 59 巻 ( 12 ) 頁： 2413-2420 2018年12月
-
Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hunermann-Happle syndrome with EBP mutations
Takeichi T., Honda A., Okuno Y., Kojima D., Kono M., Nakamura Y., Tohyama M., Tanaka T., Aoyama Y., Akiyama M.
BRITISH JOURNAL OF DERMATOLOGY 179 巻 ( 5 ) 頁： 1186-1188 2018年11月
-
Bilateral striatal necrosis and dyschromatosis symmetrica hereditaria: A-I editing efficiency of ADAR1 mutants and phenotype expression
Kono M., Suganuma M., Dutta A., Ghosh S. K., Takeichi T., Muro Y., Akiyama M.
BRITISH JOURNAL OF DERMATOLOGY 179 巻 ( 2 ) 頁： 509-511 2018年8月
-
Two cases of generalized pustular psoriasis complicated by IgG4-related disease
Miyazawa H., Fujita Y., Iwata H., Ishikawa Y., Nishio S., Ishijima K., Shinmei Y., Takeichi T., Goto K., Oi R., Akiyama M., Shimizu H.
BRITISH JOURNAL OF DERMATOLOGY 179 巻 ( 2 ) 頁： 537-539 2018年8月
-
Hand, Foot, and Mouth Disease in an Adult
Murase Chiaki, Akiyama Masashi
NEW ENGLAND JOURNAL OF MEDICINE 378 巻 ( 14 ) 頁： E20-E20 2018年4月
-
Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes
Nomura Toshifumi, Suzuki Shotaro, Miyauchi Toshinari, Takeda Masae, Shinkuma Satoru, Fujita Yasuyuki, Nishie Wataru, Akiyama Masashi, Shimizu Hiroshi
JCI INSIGHT 3 巻 ( 6 ) 2018年3月
-
Autoinflammatory keratinization diseases
Akiyama Masashi, Takeichi Takuya, McGrath John A., Sugiura Kazumitsu
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY 140 巻 ( 6 ) 頁： 1545 - 1547 2017年12月
-
Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia
Takeichi Takuya, Torrelo Antonio, Lee John Y. W., Ohno Yusuke, Luisa Lozano Maria, Kihara Akio, Liu Lu, Yasuda Yuka, Ishikawa Junko, Murase Takatoshi, Belen Rodrigo Ana, Fernandez-Crehuet Pablo, Toi Yoichiro, Mellerio Jemima, Rivera Jose, Vicente Vicente, Kelsell David P., Nishimura Yutaka, Okuno Yusuke, Kojima Daiei, Ogawa Yasushi, Sugiura Kazumitsu, Simpson Michael A., McLean W. H. Irwin, Akiyama Masashi, McGrath John A.
JOURNAL OF INVESTIGATIVE DERMATOLOGY 137 巻 ( 11 ) 頁： 2344-2353 2017年11月
-
Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation
Takeichi T., Kobayashi A., Ogawa E., Okuno Y., Kataoka S., Kono M., Sugiura K., Okuyama R., Akiyama M.
BRITISH JOURNAL OF DERMATOLOGY 177 巻 ( 4 ) 頁： E133-E135 2017年10月
-
Chromosomal inversions as a hidden disease-modifying factor
Nomura T., Suzuki S., Miyauchi T., Takeda M., Fujita Y., Nishie W., Akiyama M., Shimizu H.
JOURNAL OF INVESTIGATIVE DERMATOLOGY 137 巻 ( 10 ) 頁： S226-S226 2017年10月
-
A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline
Kono Michihiro, Suga Yasushi, Akashi Tomohiro, Ito Yasutomo, Takeichi Takuya, Muro Yoshinao, Akiyama Masashi
JOURNAL OF INVESTIGATIVE DERMATOLOGY 137 巻 ( 9 ) 頁： 2024 - 2026 2017年9月
-
Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan
Takeichi T., Tanahashi K., Taki T., Kono M., Sugiura K., Akiyama M.
BRITISH JOURNAL OF DERMATOLOGY 177 巻 ( 1 ) 頁： 290-292 2017年7月
-
Toll-like receptor 4 antagonist TAK-242 inhibits autoinflammatory symptoms in DITRA 査読有り
Shibata Akitaka, Sugiura Kazumitsu, Furuta Yasuhide, Mukumoto Yoshiko, Kaminuma Osamu, Akiyama Masashi
JOURNAL OF AUTOIMMUNITY 80 巻 頁： 28 - 38 2017年6月
-
PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis 査読有り
Hirabayashi Tetsuya, Anjo Tatsuki, Kaneko Arisa, Senoo Yuuya, Shibata Akitaka, Takama Hiroyuki, Yokoyama Kohei, Nishito Yasumasa, Ono Tomio, Taya Choji, Muramatsu Kazuaki, Fukami Kiyoko, Munoz-Garcia Agusti, Brash Alan R., Ikeda Kazutaka, Arita Makoto, Akiyama Masashi, Murakami Makoto
NATURE COMMUNICATIONS 8 巻 頁： 14609 2017年3月
-
Large lntragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23
Lee John Y. W., Hsu Chao-Kai, Michael Magdalene, Nanda Arti, Liu Lu, McMillan James R., Pourreyron Celine, Takeichi Takuya, Tolar Jakub, Reid Evan, Hayday Thomas, Blumen Sergiu C., Abu-Mouch Saif, Straussberg Rachel, Basel-Vanagaite Lina, Barhum Yael, Zouabi Yasmin, Al-Ajmi Hejab, Huang Hsin-Yu, Lin Ting-Chien, Akiyama Masashi, Lee Julia Y. Y., McLean W. H. Irwin, Simpson Michael A., Parsons Maddy, McGrath John A.
AMERICAN JOURNAL OF HUMAN GENETICS 100 巻 ( 2 ) 頁： 364 - 370 2017年2月
-
Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations
Takeichi Takuya, Sugiura Kazumitsu, Nomura Toshifumi, Sakamoto Taiko, Ogawa Yasushi, Oiso Naoki, Futei Yuko, Fujisaki Aki, Koizumi Akiko, Aoyama Yumi, Nakajima Kimiko, Hatano Yutaka, Hayashi Kei, Ishida-Yamamoto Akemi, Fujiwara Sakuhei, Sano Shigetoshi, Iwatsuki Keiji, Kawada Akira, Suga Yasushi, Shimizu Hiroshi, McGrath John A., Akiyama Masashi
JAMA DERMATOLOGY 153 巻 ( 1 ) 頁： 66-70 2017年1月
-
Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation 査読有り
167 巻 ( 1 ) 頁： 187-202 2016年9月
-
Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation. 査読有り
Ohno Y, Nakamichi S, Ohkuni A, Kamiyama N, Naoe A, Tsujimura H, Yokose U, Sugiura K, Ishikawa J, Akiyama M, Kihara A
Proc Natl Acad Sci USA 112 巻 ( 25 ) 頁： 7707-7712 2015年6月
-
Autoantibodies to DNA mismatch repair enzymes in polymyositis/dermatomyositis and other autoimmune conditions: a possible marker of favorable prognosis 査読有り
Muro Y, Nakashima R, Hosono Y, Sugiura K, Mimori T, Akiyama M
Arthritis Rheumatol 66 巻 ( 12 ) 頁： 3457-3462 2014年12月