研究者詳細 - 武市　拓也

論文 - 武市　拓也

分割表示 227 件中 181 - 200 件目／全件表示 >>

Deficiency of the interleukin-36 receptor antagonist dramatically improved by secukinumab 査読有り国際誌

Kinoshita, M; Okamoto, T; Sano, S; Mitsui, H; Takeichi, T; Sugiura, K; Akiyama, M; Shimada, S; Kawamura, T

JOURNAL OF DERMATOLOGY 45 巻 ( 10 ) 頁： E280 - E281 2018年10月

Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA-binding domain of ADAR1 査読有り国際誌

Kono, M; Suganuma, M; Shimada, T; Ishikura, Y; Watanabe, S; Takeichi, T; Muro, Y; Akiyama, M

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY 32 巻 ( 10 ) 頁： E394 - E396 2018年10月

Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome 査読有り

Taki, T; Takeichi, T; Sugiura, K; Akiyama, M

SCIENTIFIC REPORTS 8 巻 ( 1 ) 頁： 12824 2018年8月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：Scientific Reports

Germline missense mutations in GJB2 encoding connexin (Cx) 26 have been found in keratitis, ichthyosis and deafness (KID) syndrome. We explored the effects of three mouse Cx26 mutants (Cx26-G12R, -G45E and -D50N) corresponding to KID syndrome-causative human mutants on hemichannel activities leading to cell death and the expression of immune response-associated genes. We analyzed the 3D images of cells expressing wild-type (WT) or mutant Cx26 molecules to demonstrate clearly the intracellular localization of Cx26 mutants and hemichannel formation. High extracellular Ca2+ conditions lead to the closure of gap junction hemichannels in Cx26-G12R or Cx26-G45E expressing cells, resulting in prohibition of the Cx26 mutant-induced cell death. Fluorescent dye uptake assays revealed that cells with Cx26-D50N had aberrantly high hemichannel activities, which were abolished by a hemichannel blocker, carbenoxolone and 18α-Glycyrrhetinic acid. These results further support the idea that abnormal hemichannel activities play important roles in the pathogenesis of KID syndrome. Furthermore, we revealed that the expressions of IL15, CCL5, IL1A, IL23R and TLR5 are down-regulated in keratinocytes expressing Cx26-D50N, suggesting that immune deficiency in KID syndrome expressing Cx26-D50N might be associated not only with skin barrier defects, but also with the down-regulated expression of immune response-related genes.

DOI： 10.1038/s41598-018-30757-3

Web of Science

Scopus

PubMed

Bilateral striatal necrosis and dyschromatosis symmetrica hereditaria: A-I editing efficiency of ADAR1 mutants and phenotype expression 査読有り国際誌

Kono, M; Suganuma, M; Dutta, A; Ghosh, SK; 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 査読有り

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

Eosinophilia and systemic symptoms with transient ageusia: a drug reaction caused by zonisamide 査読有り国際誌

Adachi, R; Kono, M; Takeichi, T; Muro, Y; Akiyama, M

EUROPEAN JOURNAL OF DERMATOLOGY 28 巻 ( 4 ) 頁： 523 - 524 2018年7月

Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children 査読有り国際誌

Kono, M; Akiyama, M; Inoue, Y; Nomura, T; Hata, A; Okamoto, Y; Takeichi, T; Muro, Y; McLean, WHI; Shimizu, H; Sugiura, K; Suzuki, Y; Shimojo, N

BRITISH JOURNAL OF DERMATOLOGY 179 巻 ( 1 ) 頁： 190 - 191 2018年7月

Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria 査読有り

Kobayashi, T; Kono, M; Suganuma, M; Akita, H; Takai, A; Tsutsui, K; Inasaka, Y; Takeichi, T; Muro, Y; Akiyama, M

NAGOYA JOURNAL OF MEDICAL SCIENCE 80 巻 ( 2 ) 頁： 267 - 277 2018年5月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：Nagoya Journal of Medical Science

Dyschromatosis symmetrica hereditaria (DSH) is one of the genetic pigmentation disorders and shows characteristic mixture of hyper- and hypo-pigmented small macules on the extremities. Heterozygous mutations in the adenosine deaminase acting on RNA1 gene (ADAR1) cause DSH. In the present study, we report five cases of DSH and identify a distinct known mutation in each patient. Furthermore, we review previously described cases with the five ADAR1 mutations found in the present study. We reviewed clinical and molecular findings in the present and previously reported cases and found an identical mutation can result in various phenotypic severities, even in one family. We found novel phenotype-genotype correlations between the presence/absence of facial lesions and the ADAR1 mutation c.3286C>T. The absence of frecklelike macules in the face was found to be more commonly associated with the mutation c.3286C>T than with the other 4 ADAR1 mutations (odds ratio = 0.056 [95% CI: 0.007-0.47, p < 0.005]). We objectively evaluated the severity of skin manifestations in the extremities using our definition of severity levels for such manifestations. This is the first semi-quantitative evaluation of skin manifestations in DSH. Using our definition, we found that patients with facial lesions with or without hypopigmented macules tend to show more severe symptoms on the extremities than patients without facials lesions show. Furthermore, no significant difference in the severity of the skin lesions was observed between the upper and the lower extremities, suggesting that sun exposure does not affect significantly the pathogenesis of DSH skin lesions.

DOI： 10.18999/nagjms.80.2.267

Web of Science

Scopus

PubMed

National survey of quality of life and disease severity in patients with congenital ichthyosis

Murase, C; Takeichi, T; Shibata, A; Nakatochi, M; Kinoshita, F; Ikeda, S; Kurosawa, M; Akiyama, M

JOURNAL OF INVESTIGATIVE DERMATOLOGY 138 巻 ( 5 ) 頁： S44 - S44 2018年5月

Impetigo herpetiformis with IL-36RN mutation successfully treated with secukinumab 査読有り国際誌

Kinoshita, M; Ogawa, Y; Takeichi, T; Okamoto, T; Osada, A; Shimada, S; Sugiura, K; Akiyama, M; Kawamura, T; Tsukamoto, K

EUROPEAN JOURNAL OF DERMATOLOGY 28 巻 ( 3 ) 頁： 381 - 382 2018年5月

Case of mild X-linked ichthyosis complicated with paroxysmal supraventricular tachycardia and anemia.

Maki Y, Takeichi T, Kono M, Tanaka Y, Akiyama M

The Journal of dermatology 2018年3月

An infant with generalized pustular psoriasis and geographic tongue had a heterozygous IL36RN mutation and IgG2 deficiency.

Oi R, Takeichi T, Okuno Y, Kojima D, Sugawara K, Kono M, Muramatsu H, Akiyama M

Journal of dermatological science 2018年2月

Autoinflammatory keratinization diseases: An emerging concept encompassing various inflammatory keratinization disorders of the skin.

Akiyama M, Takeichi T, McGrath JA, Sugiura K

Journal of dermatological science 2018年2月

A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutieres and Singleton-Merten syndromes in a single patient 査読有り国際誌

Takeichi, T; Katayama, C; Tanaka, T; Okuno, Y; Murakami, N; Kono, M; Sugiura, K; Aoyama, Y; Akiyama, M

BRITISH JOURNAL OF DERMATOLOGY 178 巻 ( 2 ) 頁： E111 - E113 2018年2月

Multiple keratotic papules and plaques on the trunk in Cowden's disease with MALT lymphoma 査読有り国際誌

Mizuno, S; Takeichi, T; Sato, J; Nakamura, M; Goto, H; Sugiura, K; Akiyama, M

JOURNAL OF DERMATOLOGY 45 巻 ( 2 ) 頁： 238 - 240 2018年2月

Trichothiodystrophy, complementation group A complicated with squamous cell carcinoma 査読有り

Takeichi, T; Tomimura, S; Okuno, Y; Hamada, M; Kono, M; Sugiura, K; Akiyama, M

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY 32 巻 ( 2 ) 頁： E75 - E77 2018年2月

Mild case of Hailey-Hailey disease caused by a novel ATP2C1 mutation.

Hanamura T, Takeichi T, Okuno Y, Ichikawa D, Kono M, Akiyama M

The Journal of dermatology 2018年1月

Hailey-Hailey disease due to ATP2C1 splice site mutation, successfully treated with minocycline hydrochloride 査読有り

Kono, M; Niizawa, M; Takeichi, T; Muro, Y; Akiyama, M

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY 32 巻 ( 1 ) 頁： E19 - E20 2018年1月

Autoinflammatory keratinization diseases. 査読有り

Akiyama M, Takeichi T, McGrath JA, Sugiura K.

J Allergy Clin Immunol. 140 巻 ( 6 ) 頁： 1545-1547 2017年12月

Granulocyte and monocyte apheresis can control juvenile generalized pustular psoriasis with mutation of IL36RN 査読有り

Koike, Y; Okubo, M; Kiyohara, T; Fukuchi, R; Sato, Y; Kuwatsuka, S; Takeichi, T; Akiyama, M; Sugiura, K; Utani, A

BRITISH JOURNAL OF DERMATOLOGY 177 巻 ( 6 ) 頁： 1732 - 1736 2017年12月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：British Journal of Dermatology

Patients with deficiency of interleukin-36 receptor antagonist (DITRA), due to mutation of IL36RN, exhibit psoriatic phenotypes, typically generalized pustular psoriasis (GPP). We report a paediatric patient with DITRA, whose cutaneous lesions varied from psoriasis vulgaris in infancy to annular pustular psoriasis with acute exacerbation to GPP at 13 years of age. Conventional systemic treatments for GPP, which include oral retinoids, ciclosporin and methotrexate, are controversial in paediatric cases, because of their adverse effects and uncertain long-term consequences. Granulocyte monocyte apheresis, a process associated with few adverse events, promptly controlled the GPP of our paediatric patient, and has potential as a suitable alternative treatment for paediatric patients with DITRA.

DOI： 10.1111/bjd.15509

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論文 - 武市 拓也

<武市　拓也>

論文 - 武市　拓也