Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2
Suzuki, Yuika, Takeichi, Takuya, Tanahashi, Kana, Muro, Yoshinao, Suga, Yasushi, Ogi, Tomoo, Akiyama, Masashi
Published in International journal of molecular sciences (14.07.2022)
Published in International journal of molecular sciences (14.07.2022)
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Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies
Takeichi, Takuya, Ohno, Yusuke, Tanahashi, Kana, Ito, Yasutoshi, Shiraishi, Ken, Utsunomiya, Ryo, Yoshida, Satoshi, Ikeda, Kenta, Nomura, Hayato, Morizane, Shin, Sayama, Koji, Ogi, Tomoo, Muro, Yoshinao, Kihara, Akio, Akiyama, Masashi
Published in Journal of lipid research (01.12.2022)
Published in Journal of lipid research (01.12.2022)
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Journal Article
Whole‐exome sequencing reveals a retinitis pigmentosa‐causative PRPH2 variant as a secondary finding in a patient with pseudoxanthoma elasticum
Miyazaki, Akira, Takeichi, Takuya, Tanahashi, Kana, Taki, Tomoki, Taki, Yosuke, Muro, Yoshinao, Akiyama, Masashi
Published in Journal of dermatology (01.02.2023)
Published in Journal of dermatology (01.02.2023)
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Journal Article
Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation
Murase, Yuya, Takeichi, Takuya, Kawamoto, Akane, Tanahashi, Kana, Okuno, Yusuke, Takama, Hiroyuki, Shimizu, Eri, Ishikawa, Junko, Ogi, Tomoo, Akiyama, Masashi
Published in Journal of dermatological science (01.01.2020)
Published in Journal of dermatological science (01.01.2020)
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Journal Article
Acquired reactive perforating collagenosis with chondrodermatitis nodularis chronica helicis
Murase, Yuya, Takeichi, Takuya, Tanahashi, Kana, Takama, Hiroyuki, Akiyama, Masashi
Published in Journal of dermatology (01.10.2020)
Published in Journal of dermatology (01.10.2020)
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Journal Article
Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation
Takeichi, Takuya, Lee, John Y W, Okuno, Yusuke, Miyasaka, Yuki, Murase, Yuya, Yoshikawa, Takenori, Tanahashi, Kana, Nishida, Emi, Okamoto, Tatsuya, Ito, Komei, Muro, Yoshinao, Sugiura, Kazumitsu, Ohno, Tamio, McGrath, John A, Akiyama, Masashi
Published in Frontiers in immunology (03.01.2022)
Published in Frontiers in immunology (03.01.2022)
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Journal Article
Frequent FOXA1 -Activating Mutations in Extramammary Paget's Disease
Takeichi, Takuya, Okuno, Yusuke, Matsumoto, Takaaki, Tsunoda, Nobuyuki, Suzuki, Kyogo, Tanahashi, Kana, Kono, Michihiro, Kikumori, Toyone, Muro, Yoshinao, Akiyama, Masashi
Published in Cancers (29.03.2020)
Published in Cancers (29.03.2020)
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Journal Article
Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma
Ito, Yasutoshi, Takeichi, Takuya, Ikeda, Kenta, Tanahashi, Kana, Yoshikawa, Takenori, Murase, Yuya, Muro, Yoshinao, Kawakami, Yoshio, Nakamura, Yasuo, Matsuyama, Kanako, Muto, Jun, Oiso, Naoki, Morizane, Shin, Sugiura, Kazumitsu, Suga, Yasushi, Seishima, Mariko, Kawada, Akira, Ogi, Tomoo, Akiyama, Masashi
Published in Journal of dermatological science (01.08.2021)
Published in Journal of dermatological science (01.08.2021)
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Journal Article
Two Cases of Porokeratosis with MVD Mutations, in Association with Bullous Pemphigoid
Arisawa, Yuki, Ito, Yasutoshi, Tanahashi, Kana, Muro, Yoshinao, Ogi, Tomoo, Takeichi, Takuya, Akiyama, Masashi
Published in Acta dermato-venereologica (31.03.2021)
Published in Acta dermato-venereologica (31.03.2021)
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Journal Article
Mild epidermolytic ichthyosis with palmoplantar keratoderma due to the KRT1 mutation p.lle479Thr
Murase, Yuya, Tanahashi, Kana, Takeichi, Takuya, Sugiura, Kazumitsu, Aiyama, Akiteru, Nishida, Keigo, Mitsuma, Teruyuki, Akiyama, Masashi
Published in Journal of dermatology (01.09.2020)
Published in Journal of dermatology (01.09.2020)
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Journal Article
Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations
Tanahashi, Kana, Sugiura, Kazumitsu, Kono, Michihiro, Takama, Hiromichi, Hamajima, Nobuyuki, Akiyama, Masashi
Published in PloS one (19.02.2014)
Published in PloS one (19.02.2014)
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Journal Article
Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean
Sugiura, Kazumitsu, Takeichi, Takuya, Tanahashi, Kana, Ito, Yasutomo, Kosho, Tomoki, Saida, Ken, Uhara, Hisashi, Okuyama, Ryuhei, Akiyama, Masashi
Published in Journal of dermatological science (01.11.2013)
Published in Journal of dermatological science (01.11.2013)
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Journal Article
Cutaneous lupus mucinosis successfully treated with systemic corticosteroid and systemic tacrolimus combination therapy
Sugiura, Kazumitsu, MD, PhD, Tanahashi, Kana, MD, Muro, Yoshinao, MD, PhD, Akiyama, Masashi, MD, PhD
Published in Journal of the American Academy of Dermatology (01.10.2013)
Published in Journal of the American Academy of Dermatology (01.10.2013)
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Journal Article
Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis
Takeichi, Takuya, Sugiura, Kazumitsu, Hsu, Chao-Kai, Tanahashi, Kana, Takama, Hiroyuki, Simpson, Michael A, McGrath, John A, Akiyama, Masashi
Published in Journal of dermatological science (01.09.2015)
Published in Journal of dermatological science (01.09.2015)
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A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16 : Disease severity assessment using A lpha M issense technology
Noda, Tatsuhiro, Takeichi, Takuya, Tanahashi, Kana, Muro, Yoshinao, Akiyama, Masashi
Published in Journal of dermatology (01.08.2024)
Published in Journal of dermatology (01.08.2024)
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Journal Article
Generalized Verrucosis on a Background of 3C Syndrome Treated With Subcutaneous IgG Supplementation
Fukaura, Ryo, Terashima-Murase, Chiaki, Tanahashi, Kana, Sato, Yoshitaka, Kawase, Masaaki, Kato, Kohji, Akiyama, Masashi
Published in JAMA dermatology (Chicago, Ill.) (01.12.2023)
Published in JAMA dermatology (Chicago, Ill.) (01.12.2023)
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