Résultats de la recherche - John Y.W. Lee
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Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation par 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
Publié 2022Artigo -
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Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia par Takuya Takeichi, Antonio Torrelo, John Y.W. Lee, Yusuke Ohno, Marı́a Luisa Lozano, Akio Kihara, Lu Liu, Yuka Yasuda, Junko Ishikawa, Takatoshi Murase, Ana Belén Rodrigo, Pablo Fernández‐Peñas, Yôichiro Toi, Jemima E. Mellerio, José Rivera, Vicente Vicente, David P. Kelsell, Yutaka Nishimura, Yusuke Okuno, Daiei Kojima, Yasushi Ogawa, Kazumitsu Sugiura, Michael A. Simpson, W.H. Irwin McLean, Masashi Akiyama, John A. McGrath
Publié 2017Artigo
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Biology
Genetics
Medicine
Cancer research
Gene
Keratin
Phenotype
Apoptosis
Autism
Biochemistry
Cell
Ceramide
Cytoskeleton
Dermatology
Enzyme
Epidermolysis bullosa
Epidermolysis bullosa simplex
Genetic heterogeneity
Growth factor
Intermediate filament
Junctional epidermolysis bullosa (veterinary medicine)
Keratin 5
Missense mutation
Pathology
Platelet-derived growth factor receptor
Plectin
Psychiatry
Receptor
Tissue transglutaminase
Tyrosine kinase 2