Zobrazeno 1 - 10 of 46 pro vyhledávání: '"Kana Tanahashi"'
1
Akademický článek
Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies
Autor: Takuya Takeichi, Yusuke Ohno, Kana Tanahashi, Yasutoshi Ito, Ken Shiraishi, Ryo Utsunomiya, Satoshi Yoshida, Kenta Ikeda, Hayato Nomura, Shin Morizane, Koji Sayama, Tomoo Ogi, Yoshinao Muro, Akio Kihara, Masashi Akiyama
Publikováno v: Journal of Lipid Research, Vol 63, Iss 12, Pp 100308- (2022)
Self-healing collodion baby (SHCB), also called “self-improving collodion baby”, is a rare mild variant of autosomal recessive congenital ichthyosis and is defined as a collodion baby who shows the nearly complete resolution of scaling within the
Externí odkaz: https://doaj.org/article/1971be90857d46ea8f854e164c716894
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2
Akademický článek
Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation
Autor: Takuya Takeichi, John Y. W. Lee, Yusuke Okuno, Yuki Miyasaka, Yuya Murase, Takenori Yoshikawa, Kana Tanahashi, Emi Nishida, Tatsuya Okamoto, Komei Ito, Yoshinao Muro, Kazumitsu Sugiura, Tamio Ohno, John A. McGrath, Masashi Akiyama
Publikováno v: Frontiers in Immunology, Vol 12 (2022)
Heterozygous mutations in JAK1 which result in JAK-STAT hyperactivity have been implicated in an autosomal dominant disorder that features multi-organ immune dysregulation. This study identifies another previously unreported heterozygous missense JAK
Externí odkaz: https://doaj.org/article/6391e3e6db344fdea31bbf01dd88d1ad
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4
Akademický článek
Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.
Autor: Kana Tanahashi, Kazumitsu Sugiura, Michihiro Kono, Hiromichi Takama, Nobuyuki Hamajima, Masashi Akiyama
Publikováno v: PLoS ONE, Vol 9, Iss 2, p e89261 (2014)
Mutations in LIPH cause of autosomal recessive woolly hair/hypotrichosis (ARWH), and the 2 missense mutations c.736T>A (p.Cys246Ser) and c.742C>A (p.His248Asn) are considered prevalent founder mutations for ARWH in the Japanese population. To reveal
Externí odkaz: https://doaj.org/article/12831ba3503643ce8bd6747654e58d0f
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8
Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in
Autor: Yuika, Suzuki, Takuya, Takeichi, Kana, Tanahashi, Yoshinao, Muro, Yasushi, Suga, Tomoo, Ogi, Masashi, Akiyama
Publikováno v: International journal of molecular sciences. 23(14)
Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant inherited ichthyosis. SEI is caused by mutations in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7e8d6bc45710925a6a4832bed2ebdc7d
https://pubmed.ncbi.nlm.nih.gov/35887135
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10
SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation
Autor: Kana Tanahashi, Akane Kawamoto, Yusuke Okuno, William E. Boeglin, Yoshinao Muro, Chiaki Murase, Alan R. Brash, S. Taguchi, Junko Ishikawa, Tamio Ohno, Hiroyuki Takama, Michihiro Kono, Masashi Akiyama, Calcutt Mw, Yuki Miyasaka, Takuya Takeichi, Daisuke Watanabe, K. Tanaka, Tetsuya Hirabayashi
Publikováno v: J Clin Invest
The corneocyte lipid envelope, composed of covalently bound ceramides and fatty acids, is important to the integrity of the permeability barrier in the stratum corneum, and its absence is a prime structural defect in various skin diseases associated
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e05435416813b5d5177954dd499fcb18
https://doi.org/10.1172/jci130675
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Plný text Recenzováno Digitální knihovna AV ČR
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