Research Achievements - Original paper -
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Image Gallery: Unilaterally dominant acrokeratoelastoidosis (punctate palmoplantar keratoderma type 3).
Taki T, Ogawa Y, Sakakibara A, Kono M, Akiyama M.
Br J Dermatol. 177 ( 4 ) e157 - e157 2017.10 [Refereed]
Research paper (journal) Domestic Co-author
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Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation.
Takeichi T, Kobayashi A, Ogawa E, Okuno Y, Kataoka S, Kono M, Sugiura K, Okuyama R, Akiyama M.
Br J Dermatol. 177 ( 4 ) e133 - e135 2017.10 [Refereed]
Research paper (journal) Domestic Co-author
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A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation.
Takeichi T, Tsukamoto K, Okuno Y, Kojima D, Kono M, Suga Y, Akiyama M.
J Dermatol Sci. 88 ( 1 ) 144 - 146 2017.10 [Refereed]
Research paper (journal) Domestic Co-author
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Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis by a homozygous deletion mutation in SDR9C7.
Takeichi T, Nomura T, Takama H, Kono M, Sugiura K, Watanabe D, Shimizu H, Simpson MA, McGrath JA, Akiyama M.
Br J Dermatol. 177 ( 3 ) e62 - e64 2017.09 [Refereed]
Research paper (journal) Domestic Co-author
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A child with epidermolytic ichthyosis from a parent with epidermolytic nevus: risk evaluation of transmission from mosaic to germline.
Kono M, Suga Y, Akashi T, Ito Y, Takeichi T, Muro Y, Akiyama M.
J Invest Dermatol. 137 ( 9 ) 2024 - 2026 2017.09 [Refereed]
Research paper (journal) Domestic Co-author
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Prevalence of anti-NT5C1A antibodies in Japanese patients with autoimmune rheumatic diseases in comparison with other patient cohorts.
Muro Y, Nakanishi H, Katsuno M, Kono M, Akiyama M
Clinica Chimica Acta. 472 1 - 4 2017.09 [Refereed]
Research paper (journal) Domestic Co-author
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Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.
Ogawa Y, Kono M, Akiyama M.
Pigment Cell Melanoma Res. 30 ( 5 ) 501 - 504 2017.09 [Refereed]
Research paper (journal) Domestic Co-author
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A solid variant of primary cutaneous cribriform carcinoma: a small, stable, long-term lesion.
Yokota K, Kono M, Mori S, Shimizu K, Matsumoto T, Akiyama M.
Eur J Dermatol. 27 ( 4 ) 419 - 421 2017.08 [Refereed]
Research paper (journal) Domestic Co-author
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Mutational analysis of 29 patients with autosomal recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal recessive woolly hair and hypotrichosis in Japan.
Takeichi T, Tanahashi K, Taki T, Kono M, Sugiura K and Akiyama M.
Br J Dermatol. 177 ( 1 ) 290 - 292 2017.07 [Refereed]
Research paper (journal) Domestic Co-author
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Hailey-Hailey disease due to ATP2C1 splice-site mutation, successfully treated with minocycline hydrochloride.
Kono M, Niizawa M, Takeichi T, Muro Y, Akiyama M
J Eur Acad Dermatol Venereol. 32 ( 1 ) e19 - e20 2017.07 [Refereed]
Research paper (journal) Domestic Co-author
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Anti-dense Fine Speckled 70 Autoantibodies in Japanese Children with Dermatomyositis, Localized Scleroderma, and Idiopathic Arthritis with Iridocyclitis.
Muro Y, Iwata N, Tanaka Y, Kodera M, Kono M, Akiyama M.
J Rheumatol. 44 ( 5 ) 711 - 712 2017.05 [Refereed]
Research paper (journal) Domestic Co-author
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Congenital ichthyosis and recurrent eczema associated with a novel ALOXE3 mutation.
Takeichi T, Okuno Y, Saito C, Kojima D, Kono M, Morita A, Sugiura K, Akiyama M.
Acta Dermato-Venereol. 97 ( 4 ) 532 - 533 2017.04 [Refereed]
Research paper (journal) Domestic Co-author
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Punctate Palmoplantar Keratoderma Type 1 with a Novel AAGAB Frameshift Mutation: intrafamilial phenotype variation due to ageing.
Kono M*, Fukai K, Shimizu N, Nagao J, Takeichi T, Tsuruta D, Sugiura K, Akiyama M.
J Eur Acad Dermatol Venereol. 31 ( 3 ) e175 - e176 2017.03 [Refereed]
Research paper (journal) Domestic Co-author
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Striate palmoplantar keratoderma showing transgrediens in a patient harboring heterozygous nonsense mutations in both DSG1 and SERPINB7.
Fukaura R, Takeichi T, Okuno Y, Kojima D, Kono M, Sugiura K, Suga Y, Akiyama M.
Acta Derm Venereol. 97 ( 3 ) 399 - 401 2017.03 [Refereed]
Research paper (journal) Domestic Co-author
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A case of epidermolytic ichthyosis showing a very mild phenotype due to a novel tail extension mutation in KRT10.
Kono M, Fukai K, Omura R, Sugawara K, Tsuruta D, K Sugiura K, Akiyama M.
J Eur Acad Dermatol Venereol. 31 ( 2 ) e68 - e69 2017.02 [Refereed]
Research paper (journal) Domestic Co-author
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Recurrent cellulitis caused by Helicobacter cinaedi in a patient with X-linked agammaglobulinaemia.
Sugimoto M*, Takeichi T*, Muramatsu H, Kojima D, Osada Y, Kono M, Kojima S, Akiyama M. (* joint first authors)
Acta Derm Venereol. 97 ( 2 ) 277 - 278 2017.02 [Refereed]
Research paper (journal) Domestic Co-author
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Ripple-pattern lichen amyloidosis in a case of ichthyosis vulgaris with a novel FLG mutation.
Kono M*, Nishida K, Takeichi T, Sugiura K, Akiyama M.
J Eur Acad Dermatol Venereol. 31 ( 2 ) e130 - e132 2017.02 [Refereed]
Research paper (journal) Domestic Co-author
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Angiofibroma of soft tissue in the cheek: diagnosis confirmed by gene rearrangement in NCOA2.
Jeong JW, Kono M*, Hasegawa-Murakami Y, Motoi T, Yokota K, Matsumoto T, Kaibuchi-Ando K, Kato Y, Tada T, Akiyama M.
Acta Derm Venereol. 97 ( 1 ) 133 - 134 2017.01 [Refereed]
Research paper (journal) Domestic Co-author
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A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis.
Takeichi T, Togawa Y, Taniguchi R, Okuno Y, Kono M, Matsue H, Sugiura K, Akiyama M.
J Dermatol Sci. 85 ( 1 ) 58 - 60 2017.01 [Refereed]
Research paper (journal) Domestic Co-author
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Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis.
Sekiya A, Kono M, Tsujiuchi H, Kobayashi T, Nomura T, Kitakawa M, Suzuki N, Yamanaka K, Sueki H, McLean WHI, Shimizu H, Akiyama M*.
J Eur Acad Dermatol Venereol. 31 ( 1 ) 158 - 162 2017.01 [Refereed]
Research paper (journal) Domestic Co-author