Faculty Profiles - TAKEICHI Takuya

Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome Reviewed

Murase C., Takeichi T., Taki T., Yoshikawa T., Suzuki A., Ogi T., Suga Y., Akiyama M.

JOURNAL OF INVESTIGATIVE DERMATOLOGY Vol. 141 ( 10 ) page： S177 - S177 2021.10

A case of generalised pustular psoriasis with bullous pemphigoid showing spongiform pustule of Kogoj with eosinophils. Reviewed International journal

Hiroyoshi Nozaki, Shin Iinuma, Shigetsuna Komatsu, Yoshio Hashimoto, Hikaru Shibaki, Takuya Takeichi, Norito Ishii, Masashi Akiyama, Masaru Honma, Akemi Ishida-Yamamoto

European journal of dermatology : EJD Vol. 31 ( 5 ) page： 660 - 662 2021.9

Case of annular pustular psoriasis/circinate erythematous psoriasis induced by hydroxychloroquine in a patient with systemic lupus erythematosus: Possible association with CARD-14 mutation. Reviewed International journal

Hirotaka Midorikawa, Yukiko Kiniwa, Akane Minagawa, Kana Osawa, Takushi Shirai, Tasuku Sano, Kenta Nakamura, Atsuko Ashida, Ken-Ichi Ueno, Takuya Takeichi, Masashi Akiyama, Ryuhei Okuyama

The Journal of dermatology Vol. 48 ( 9 ) page： E440 - E442 2021.9

Intravenous allogeneic multilineage-differentiating stress-enduring cells in adults with dystrophic epidermolysis bullosa: a phase 1/2 open-label study. Reviewed International journal

Y Fujita, T Nohara, S Takashima, K Natsuga, M Adachi, K Yoshida, S Shinkuma, T Takeichi, H Nakamura, O Wada, M Akiyama, A Ishiko, H Shimizu

Journal of the European Academy of Dermatology and Venereology : JEADV Vol. 35 ( 8 ) page： E528 - E531 2021.8

Cutaneous malignant melanoma in an elderly patient with intermediate junctional epidermolysis bullosa. Reviewed International journal

Yuta Yamashita, Tomoki Taki, Takuya Takeichi, Mao Okumura, Shoichiro Mori, Yasutoshi Ito, Tomoo Ogi, Motohito Yamada, Masashi Akiyama

The Journal of dermatology Vol. 48 ( 8 ) page： E384 - E385 2021.8

Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma. Reviewed International journal

Yasutoshi Ito, Takuya Takeichi, Kenta Ikeda, Kana Tanahashi, Takenori Yoshikawa, Yuya Murase, Yoshinao Muro, Yoshio Kawakami, Yasuo Nakamura, Kanako Matsuyama, Jun Muto, Naoki Oiso, Shin Morizane, Kazumitsu Sugiura, Yasushi Suga, Mariko Seishima, Akira Kawada, Tomoo Ogi, Masashi Akiyama

Journal of dermatological science Vol. 103 ( 2 ) page： 116 - 119 2021.8

Immune recognition of lysyl-tRNA synthetase and isoleucyl-tRNA synthetase by anti-OJ antibody-positive sera. Reviewed International journal

Yoshinao Muro, Yasuhiko Yamano, Ken Yoshida, Yohsuke Oto, Kimiko Nakajima, Teruyuki Mitsuma, Shiori Kikuchi, Akihiro Matsumae, Mariko Ogawa-Momohara, Takuya Takeichi, Yasuhiro Kondoh, Masao Katayama, Yasuyuki Todoroki, Yoshiya Tanaka, Minoru Satoh, Masashi Akiyama

Journal of autoimmunity Vol. 122 page： 102680 - 102680 2021.8

Language：English Publishing type：Research paper (scientific journal)

OBJECTIVE: Anti-aminoacyl-tRNA synthetase (anti-ARS) antibodies are useful for identifying a clinical subset of patients with idiopathic inflammatory myopathies (IIMs). Anti-OJ antibodies, which recognize multi-enzyme synthetase complexes including isoleucyl-tRNA synthetase (IARS) and lysyl-tRNA synthetase (KARS), are among the anti-ARS antibodies. Although testing antibodies to other ARSs have been used clinically, no validated immunoassays for detecting anti-OJ antibodies are available. We aimed to establish an anti-OJ ELISA. METHODS: Serum samples were collected from 279 patients with IIMs and 22 patients with idiopathic interstitial pneumonia. Sixty-four of the samples that had been confirmed to be negative for anti-OJ by standard immunoprecipitation were used as the negative control, and 12 anti-OJ-positive reference sera were used as the positive control. Antibodies to IARS and KARS were assayed by ELISA using biotinylated recombinant proteins generated by in vitro transcription/translation. RESULTS: The anti-OJ-positive sera strongly reacted with the KARS and IARS recombinant proteins in ELISA. Although all 12 reference sera were positive in the anti-KARS ELISA, 4 of the 64 anti-OJ-negative sera were also weakly positive. The sensitivity and the specificity were 100% and 93.8%, respectively. Since our anti-KARS ELISA performed well, showing a high agreement with the results for immunoprecipitation (Cohen's κ > 0.8), the remaining 237 samples were also tested. Thirteen anti-KARS-positive sera were newly found by ELISA, all of which were anti-OJ positive by immunoprecipitation. CONCLUSION: Immunoassays for detecting anti-OJ antibodies using KARS and IARS recombinant proteins were developed. Our ELISAs performed well, with very high agreement of the results by immunoprecipitation and can be applied to the first reliable, easy-to-use measurement assays for anti-OJ antibodies.

DOI： 10.1016/j.jaut.2021.102680

Paradoxical Reaction in a Patient with Hidradenitis Suppurativa Undergoing Adalimumab Treatment. Reviewed International journal

Soichiro Ikeya, Takuya Takeichi, Tomoki Taki, Yoshinao Muro, Tomoo Ogi, Masashi Akiyama

Acta dermato-venereologica Vol. 101 ( 6 ) page： adv00484 2021.6

Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital. Reviewed International journal

Yoshihiro Nishida, Kunihiro Ikuta, Atsushi Natsume, Naoko Ishihara, Maki Morikawa, Hiroyuki Kidokoro, Yukako Muramatsu, Norie Nonobe, Kanako Ishizuka, Takuya Takeichi, Miki Kanbe, Seiji Mizuno, Shiro Imagama, Norio Ozaki

Scientific reports Vol. 11 ( 1 ) page： 11933 - 11933 2021.6

Language：English Publishing type：Research paper (scientific journal)

Neurofibromatosis type 1 (NF1) is a genetic multisystem disorder. Clinicians must be aware of the diverse clinical features of this disorder in order to provide optimal care for it. We have set up an NF1 in-hospital medical care network of specialists regardless of patient age, launching a multidisciplinary approach to the disease for the first time in Japan. From January 2014 to December 2020, 246 patients were enrolled in the NF1 patient list and medical records. Mean age was 26.0 years ranging from 3 months to 80 years. The number of patients was higher as age at first visit was lower. There were 107 males (41%) and 139 females. After 2011, the number of patients has increased since the year when the medical care network was started. Regarding orthopedic signs, scoliosis was present in 60 cases (26%), and bone abnormalities in the upper arm, forearm, and tibia in 8 cases (3.5%). Neurofibromas other than cutaneous neurofibromas were present in 90 cases (39%), and MPNST in 17 cases (7.4%). We launched a multidisciplinary NF1 clinic system for the first time in Japan. For patients with NF1, which is a hereditary and systemic disease associated with a high incidence of malignant tumors, it will be of great benefit when the number of such clinics in Japan and the rest of Asia is increased.

DOI： 10.1038/s41598-021-91345-6

Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism. Reviewed International journal

Toshinari Miyauchi, Shotaro Suzuki, Masae Takeda, Jin Teng Peh, Masayuki Aiba, Ken Natsuga, Yasuyuki Fujita, Takuya Takeichi, Taiko Sakamoto, Masashi Akiyama, Hiroshi Shimizu, Toshifumi Nomura

American journal of human genetics Vol. 108 ( 6 ) page： 1026 - 1039 2021.6

Language：English Publishing type：Research paper (scientific journal)

Revertant mosaicism, or "natural gene therapy," refers to the spontaneous in vivo reversion of an inherited mutation in a somatic cell. Only approximately 50 human genetic disorders exhibit revertant mosaicism, implicating a distinctive role played by mutant proteins in somatic correction of a pathogenic germline mutation. However, the process by which mutant proteins induce somatic genetic reversion in these diseases remains unknown. Here we show that heterozygous pathogenic CARD14 mutations causing autoinflammatory skin diseases, including psoriasis and pityriasis rubra pilaris, are repaired mainly via homologous recombination. Rather than altering the DNA damage response to exogenous stimuli, such as X-irradiation or etoposide treatment, mutant CARD14 increased DNA double-strand breaks under conditions of replication stress. Furthermore, mutant CARD14 suppressed new origin firings without promoting crossover events in the replication stress state. Together, these results suggest that mutant CARD14 alters the replication stress response and preferentially drives break-induced replication (BIR), which is generally suppressed in eukaryotes. Our results highlight the involvement of BIR in reversion events, thus revealing a previously undescribed role of BIR that could potentially be exploited to develop therapeutics for currently intractable genetic diseases.

DOI： 10.1016/j.ajhg.2021.04.021

Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome. Reviewed

Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants. Reviewed International journal

Chiaki Murase, Takuya Takeichi, Toshifumi Nomura, Tomoo Ogi, Masashi Akiyama

The Journal of investigative dermatology Vol. 141 ( 6 ) page： 1596 - 1598 2021.6

Autoantibody profiles in patients' sera associated with distribution patterns of dermatomyositis skin symptoms. Reviewed International journal

Mariko Ogawa-Momohara, Fumie Kinoshita, Yoshinao Muro, Yumiko Kobayashi, Takuya Takeichi, Masashi Akiyama

Journal of the American Academy of Dermatology Vol. 84 ( 6 ) page： 1720 - + 2021.6

MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1 Reviewed

Ito Y., Takeichi T., Igari S., Mori T., Ono A., Suyama K., Takeuchi S., Muro Y., Ogi T., Hosoya M., Yamamoto T., Akiyama M.

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY Vol. 35 ( 5 ) page： E345 - E347 2021.5

Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome. Reviewed International journal

Chiaki Murase, Takuya Takeichi, Tomoki Taki, Takenori Yoshikawa, Akiko Suzuki, Tomoo Ogi, Yasushi Suga, Masashi Akiyama

Journal of dermatological science Vol. 102 ( 2 ) page： 126 - 129 2021.5

Kaori Kaibuchi-Ando, Takuya Takeichi, Yasutoshi Ito, So Takeuchi, Yuta Yamashita, Motohito Yamada, Yoshinao Muro, Tomoo Ogi, Masashi Akiyama

Nagoya journal of medical science Vol. 83 ( 2 ) page： 393 - 396 2021.5

Language：English

Basal cell nevus syndrome (BCNS) is an autosomal dominant skin disorder characterized by multiple basal cell nevi. Patients with BCNS tend to develop basal cell carcinoma (BCC) and frequently show skeletal abnormalities. Most cases of BCNS are caused by mutations in patched 1 (PTCH1). PTCH1 encodes a transmembrane receptor protein for the secreted molecule sonic hedgehog, which plays a key role in the development of animals ranging from insects to mammals. We analyzed two Japanese BCNS patients from two independent families. Both of our patients had multiple jaw keratocysts. In one patient, these were the key to noticing his BCNS, as he had no skin tumors. The early detection of PTCH1 mutations would enable BCNS patients to be carefully followed up for the occurrence of BCC. The diagnosis of BCC at the early stage leads to prompt surgical treatments, resulting in a good prognosis. The present cases suggest that keratocysts of the jaw might be an important clue for diagnosing BCNS.

DOI： 10.18999/nagjms.83.2.393

Darier's disease with epilepsy in an elderly patient after surgery for aortic dissection. Reviewed International journal

Yuya Murase, Takuya Takeichi, Tomoyuki Shibata, Yoshinao Muro, Masashi Akiyama

The Journal of dermatology Vol. 48 ( 4 ) page： E169 - E170 2021.4

Cutaneous extramedullary hematopoiesis in a patient with secondary myelofibrosis due to MPL gene mutation. Reviewed International journal

Yuya Murase, Takuya Takeichi, Kana Tanahashi, Yoshiaki Marumo, Yuka Suzuki, Shigeo Nakamura, Masashi Akiyama

Journal of the European Academy of Dermatology and Venereology : JEADV Vol. 35 ( 4 ) page： E257 - E259 2021.4

Language：English

Dermal extramedullary hematopoiesis (EMH) is seen as a normal process from the first to the fifth month of gestation, and it is a process in which undifferentiated dermal mesenchymal cells retain their hematopoietic potential.1 However, after sixth months of gestation, hematopoiesis does not occur in the dermis except in a few conditions, such as in myeloproliferative disorders.1-3.

DOI： 10.1111/jdv.16990