乃村 俊史(ノムラ トシフミ)

研究者情報全体を表示

論文

• Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis
  Takeda Masae; Nomura Toshifumi; Sugiyama Takato; Miyau...
  The Journal of dermatology/45(12)/pp.1463-1467, 2018-12
  
  PubMed
• Severe Septic Vasculitis Preceding Thoracic Empyema: Staphylococcus aureus Enterotoxin Deposition in Vessel Walls as a Possible Pathomechanism
  Yamaguchi Yasuyuki; Fujita Yasuyuki; Ikeda Tetsuya; Ma...
  Acta dermato-venereologica/99(4)/pp.464-465, 2019-04
  
  PubMed
• Efficient Gene Reframing Therapy for Recessive Dystrophic Epidermolysis Bullosa with CRISPR/Cas9
  Takashima Shota; Shinkuma Satoru; Fujita Yasuyuki; Nom...
  The Journal of investigative dermatology/139(8)/p.1711-1721.e4, 2019-04
  
  PubMed
• Electron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome
  Shinkuma Satoru; Nakamura Hideki; Maehara Manami; Taka...
  Acta dermato-venereologica/99(12)/pp.1110-1115, 2019-11
  
  PubMed
• A Case of Malignant Melanoma Arising in Nagashima-type Palmoplantar Keratosis
  Katayama Sho; Nomura Toshifumi; Takeda Masae; Miyauchi...
  Acta dermato-venereologica/99(13)/pp.1311-1312, 2019-12
  
  PubMed
• Speckled lentiginous nevus in a patient with Hermansky-Pudlak syndrome type 1
  Mai Shoko; Nishie Wataru; Mai Yosuke; Natsuga Ken; No...
  The Journal of dermatology/47(1)/p.e20-e21, 2020-01
  
  PubMed
• Two Cases of Interleukin-7-Deficient Generalized Verrucosis
  Kosumi Hideyuki; Natsuga Ken; Takashima Shota; Miyauch...
  Clinical infectious diseases : an official publication of the Infectious Diseases Society of America/71(6)/pp.1561-1563, 2020-04
  
  PubMed
• Intravenous Injection of Muse Cells as a Potential Therapeutic Approach for Epidermolysis Bullosa
  Fujita Yasuyuki; Komatsu Miho; Lee San Eun; Kushida Y...
  The Journal of investigative dermatology/141(1)/p.198-202.e6, 2021-01
  
  PubMed
• Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1
  Suzuki Shotaro; Nomura Toshifumi; Miyauchi Toshinari; ...
  The Journal of investigative dermatology/136(10)/pp.2093-2095, 2016-04
  
  PubMed
• Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes
  Nomura Toshifumi; Suzuki Shotaro; Miyauchi Toshinari; ...
  JCI insight/3(6), 2018-04
  
  PubMed
• Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma
  Suzuki Shotaro; Nomura Toshifumi; Miyauchi Toshinari; ...
  Life science alliance/2(1), 2019-04
  
  PubMed
• Cultured Epidermal Autografts from Clinically Revertant Skin as a Potential Wound Treatment for Recessive Dystrophic Epidermolysis Bullosa
  Matsumura Wakana; Fujita Yasuyuki; Shinkuma Satoru; Su...
  The Journal of investigative dermatology/139(10)/p.2115-2124.e11, 2019-04
  
  PubMed
• Recombination-induced revertant mosaicism in ichthyosis with confetti and loricrin keratoderma
  Nomura Toshifumi
  Journal of dermatological science/97(2)/pp.94-100, 2020-02
  
  PubMed
• Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism
  Miyauchi Toshinari; Suzuki Shotaro; Takeda Masae; Peh Ji...
  American journal of human genetics/108(6)/pp.1026-1039, 2021-06
  
  PubMed
• A case of anti-PL-7 antibody-positive antisynthetase syndrome with dermatomyositis-associated erythema induced sclerodermatous changes
  Fukuzono Maki; Sasaki Katsuhito; Ichimura Yuki; Inoue ...
  Rheumatology (Oxford, England)/60(10)/pp.E362-E364, 2021-04
  
  PubMed
• Symmetrical acral keratoderma: A waxing and waning scaly pigmented skin lesions on the acral extremities
  Nomura Toshifumi; Takeda Masae; Teng Peh Jin; Orita A...
  JOURNAL OF DERMATOLOGY/Early View, 2020-12
  
  PubMed