Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis T Nomura, A Sandilands, M Akiyama, H Liao, AT Evans, K Sakai, M Ota, ... Journal of Allergy and Clinical Immunology 119 (2), 434-440, 2007 | 316 | 2007 |
Clinical severity correlates with impaired barrier in filaggrin-related eczema I Nemoto-Hasebe, M Akiyama, T Nomura, A Sandilands, WHI McLean, ... Journal of Investigative Dermatology 129 (3), 682-689, 2009 | 226 | 2009 |
Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan T Nomura, M Akiyama, A Sandilands, I Nemoto-Hasebe, K Sakai, ... Journal of Investigative Dermatology 128 (6), 1436-1441, 2008 | 183 | 2008 |
Impaired epidermal permeability barrier in mice lacking elovl1, the gene responsible for very-long-chain fatty acid production T Sassa, Y Ohno, S Suzuki, T Nomura, C Nishioka, T Kashiwagi, ... Molecular and cellular biology 33 (14), 2787-2796, 2013 | 174 | 2013 |
A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays SP McElroy, T Nomura, LS Torrie, E Warbrick, U Gartner, G Wood, ... PLoS biology 11 (6), e1001593, 2013 | 149 | 2013 |
Polymorphisms in the IL-12b and IL-23R Genes Are Associated with Psoriasis of Early Onset in a UK Cohort DN Cooper, M Krawczak, T Nomura, A Sandilands, M Akiyama, H Liao, ... dermatitis 119, 434-40, 1958 | 141 | 1958 |
Distinct behavior of human Langerhans cells and inflammatory dendritic epidermal cells at tight junctions in patients with atopic dermatitis K Yoshida, A Kubo, H Fujita, M Yokouchi, K Ishii, H Kawasaki, T Nomura, ... Journal of Allergy and Clinical Immunology 134 (4), 856-864, 2014 | 140 | 2014 |
An annexin A1–FPR1 interaction contributes to necroptosis of keratinocytes in severe cutaneous adverse drug reactions N Saito, H Qiao, T Yanagi, S Shinkuma, K Nishimura, A Suto, Y Fujita, ... Science translational medicine 6 (245), 245ra95-245ra95, 2014 | 140 | 2014 |
A group of atopic dermatitis without IgE elevation or barrier impairment shows a high Th1 frequency: possible immunological state of the intrinsic type R Kabashima-Kubo, M Nakamura, J Sakabe, K Sugita, R Hino, T Mori, ... Journal of dermatological science 67 (1), 37-43, 2012 | 116 | 2012 |
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma E Pohler, O Mamai, J Hirst, M Zamiri, H Horn, T Nomura, AD Irvine, ... Nature genetics 44 (11), 1272, 2012 | 100 | 2012 |
FLG mutation p.Lys4021X in the C‐terminal imperfect filaggrin repeat in Japanese patients with atopic eczema I Nemoto‐Hasebe, M Akiyama, T Nomura, A Sandilands, WHI McLean, ... British Journal of Dermatology 161 (6), 1387-1390, 2009 | 93 | 2009 |
Pityriasis rubra pilaris type V as an autoinflammatory disease by CARD14 mutations T Takeichi, K Sugiura, T Nomura, T Sakamoto, Y Ogawa, N Oiso, Y Futei, ... JAMA dermatology 153 (1), 66-70, 2017 | 81 | 2017 |
A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa Y Nomura, T Nomura, K Sakai, K Sasaki, Y Ohguchi, O Mizuno, H Hata, ... British Journal of Dermatology 168 (1), 206-209, 2013 | 69 | 2013 |
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA‐PLA1α in autosomal recessive hypotrichosis S Shinkuma, M Akiyama, A Inoue, J Aoki, K Natsuga, T Nomura, K Arita, ... Human mutation 31 (5), 602-610, 2010 | 66 | 2010 |
Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. T Nomura, M Akiyama, A Sandilands, I Nemoto-Hasebe, K Sakai, ... The Journal of investigative dermatology 129 (5), 1302, 2009 | 66 | 2009 |
Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma. R Osawa, S Konno, M Akiyama, I Nemoto-Hasebe, T Nomura, Y Nomura, ... The Journal of investigative dermatology 130 (12), 2834-2836, 2010 | 64 | 2010 |
Comprehensive screening for a complete set of Japanese‐population‐specific filaggrin gene mutations M Kono, T Nomura, Y Ohguchi, O Mizuno, S Suzuki, H Tsujiuchi, ... Allergy 69 (4), 537-540, 2014 | 60 | 2014 |
Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations CK Hsu, M Akiyama, I Nemoto‐Hasebe, T Nomura, A Sandilands, ... British Journal of Dermatology 161 (2), 448-451, 2009 | 60 | 2009 |
Efficient gene reframing therapy for recessive dystrophic epidermolysis bullosa using CRISPR/Cas9 S Takashima, S Shinkuma, Y Fujita, T Nomura, H Ujiie, K Natsuga, ... Journal of Investigative Dermatology, 2019 | 49 | 2019 |
A novel NCSTN mutation alone may be insufficient for the development of familial hidradenitis suppurativa Y Nomura, T Nomura, S Suzuki, M Takeda, O Mizuno, Y Ohguchi, R Abe, ... Journal of dermatological science 74 (2), 180-182, 2014 | 46 | 2014 |