Elucidation of pathogenesis and development of novel therapy of chilblain lupus on the basis of an exonuclease enzyme

• Project/Area Number: 24659526
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Single-year Grants
• Research Field: Dermatology
• Research Institution: Nagoya University
• Principal Investigator: AKIYAMA Masashi 名古屋大学, 医学(系)研究科(研究院), 教授 (60222551)
• Project Period (FY): 2012-04-01 – 2013-03-31
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000); Fiscal Year 2012: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
• Keywords: 家族性凍瘡状狼瘡 / 凍瘡状狼瘡 / 核酸分解酵素 / TREX1 / 遺伝子変異解析 / DNA切断実験 / 遺伝子変異臨床型相関 / DDEDhモチーフ / 新規ミスセンス変異 / 日本人第一例目 / 常染色体優性遺伝性疾患

Research Abstract

A Japanese female patient of chilblain lupus followed by us has family history of chilblain lupus which is considered autosomal dominant trait. The onset of chilblain lupus of the patient was 1 year-old. She shows skin ulcers on the bilateral fingers and nose, and has contraction of finger joints. Direct sequencing of all coding exons and exon-intron boundaries of TREX1 and SAMHD1 was conducted. The patient had a novel heterozygous missense TREX1 c.394C>G (p.Pro132Ala) mutation. in vitro 3 prime single stranded DNA exonuclease assay revealed that TREX1 p.Pro132Ala had dysfunction of enzyme activity. Taken together, we found familial chilblain lupus due to TREX1 dysfunction in Japan for the first time.

Research Products

• [Journal Article] Nuclear envelope localization of Ran-binding-protein 2 and Ran-GTPase-activating protein 1 in psoriatic epidermal keratinocytes (2014)
  • Author(s): Yasuda K, Sugiura K, Takeichi T, Ogawa Y, Muro Y, Akiyama M.
  • Journal Title: Exp Dermatol Volume: 23 Pages: 119-24
  • Peer Reviewed
• [Journal Article] High survival rate of harlequin ichthyosis in Japan (2014)
  • Author(s): Shibata A, Ogawa Y, Sugiura K, Muro Y, Abe R, Suzuki T, Akiyama M.
  • Journal Title: J Am Acad Dermatol Volume: 70 Pages: 387-8
• [Journal Article] Generalized Pustular Psoriasis Triggered by Amoxicillin in Monozygotic Twins with Compound Heterozygous IL36RN Mutations : Comment on the Article by Navarini et al. (2014)
  • Author(s): Sugiura K, Shoda Y, Akiyama M.
  • Journal Title: J Invest Dermatol Volume: 134 Pages: 578-9
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• [Journal Article] Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/ hypotrichosis in Japan and the genotype/phenotype correlations (2014)
  • Author(s): Tanahashi K, Sugiura K, Kono M, Takama H, Hamajima N, Akiyama M.
  • Journal Title: PLoS One Volume: 9
  • Peer Reviewed
• [Journal Article] Detection of autoantibodies to periplakin and envoplakin in paraneoplastic pemphigus but not idiopathic pulmonary fibrosis using full-length recombinant proteins. (2014)
  • Author(s): Muro Y, Sugiura K, Shiraki A, Ishii N, Hashimoto T, Akiyama M.
  • Journal Title: Clin Chim Acta Volume: 429 Pages: 14-17
  • DOI: 10.1016/j.cca.2013.11.020
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• [Journal Article] Therapy-related myelodysplastic syndrome after alkylating agents and platinum-based therapy for malignant melanoma (2014)
  • Author(s): Nin-Asai R, Sawada M, Matsumoto T, Saito S, Yokota K, Akiyama M.
  • Journal Title: J Dermatol Volume: 41 Issue: 2 Pages: 178-179
  • DOI: 10.1111/1346-8138.12366
  • Peer Reviewed
• [Journal Article] Generalized pusular psoriasis triggered by amoxicillin in monozygotic twins with compound heterozygous IL36RN mutations : Comment on the article by Navarini et al (2014)
  • Author(s): Sugiura K, Shoda Y, Akiyama M
  • Journal Title: J Invest Dermatol Volume: 134(2) Issue: 2 Pages: 578-579
  • DOI: 10.1038/jid.2013.354
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• [Journal Article] Sweet's syndrome presenting with vegetative nodules on the hands: relationship to neutrophilic dermatosis of the dorsal hands. (2014)
  • Author(s): Mizuno O, Yanagi T, Baba K, Yamane N, Inokuma D, Ito K, Akiyama M, Shimizu H
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  • DOI: 10.1111/j.1365-4632.2011.05352.x
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• [Journal Article] Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations (2014)
  • Author(s): Tanahashi K, Sugiura K, Kono M, Takama H, Hamajima N, Akiyama M
  • Journal Title: PLoS ONE Volume: 9(2) Issue: 2 Pages: e89261-e89261
  • DOI: 10.1371/journal.pone.0089261
  • Peer Reviewed
• [Journal Article] Establishment of an ELISA to detect anti-glycyl-tRNA synthetase antibody (anti-EJ), a serological marker of dermatomyositis/polymyositis and interstitial lung disease. (2014)
  • Author(s): Hane H, Muro Y, Watanabe K, Ogawa Y, Sugiura K, Akiyama M.
  • Journal Title: Clin Chim Acta Volume: 431C Pages: 9-14
  • DOI: 10.1016/j.cca.2014.01.005
  • Peer Reviewed / Open Access
• [Journal Article] Six-year-old boy with palmoplantar keratoderma with ichthyosis. (2014)
  • Author(s): Sugiura K, Oiso N, Kawada A, Akiyama M.
  • Journal Title: J Am Acad Dermatol Volume: 70 Issue: 3 Pages: e51-e52
  • DOI: 10.1016/j.jaad.2013.08.054
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• [Journal Article] Next generation diagnostics of heritable connective tissue disorders (2014)
  • Author(s): Salam A, Simpson MA, Stone KL, Takeichi T, Nanda A, Akiyama M, McGrath JA.
  • Journal Title: Matrix Biol Volume: 33C Pages: 35-40
  • DOI: 10.1016/j.matbio.2013.06.004
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• [Journal Article] The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation (2014)
  • Author(s): Akiyama M
  • Journal Title: BBA-Mol Cell BiolL 1841(3) Volume: 1841 Issue: 3 Pages: 435-440
  • DOI: 10.1016/j.bbalip.2013.08.009
  • Peer Reviewed
• [Journal Article] The Majority of Generalized Pustular Psoriasis without Psoriasis Vulgaris Is Caused by Deficiency of Interleukin-36 Receptor Antagonist (2013)
  • Author(s): Sugiura K, Takemoto A, Yamaguchi M, Takahashi H, Shoda Y, Mitsuma T, Tsuda K, Nishida E, Togawa Y, Nakajima K, Sakakibara A, Kawachi S, Shimizu M, Ito Y, Takeichi T, Kono M, Ogawa Y, Muro Y, Ishida-Yamamoto A, Sano S, Matsue H, Morita A, Mizutani H, Iizuka H, Muto M, Akiyama M.
  • Journal Title: J Invest Dermatol Volume: 133 Pages: 2514-21
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• [Journal Article] Unilaterally dominant eosinophilic fasciitis after influenza vaccination (2013)
  • Author(s): Sugiura K, Matsumoto T, Muro Y, Akiyama M.
  • Journal Title: J Am Acad Dermatol Volume: 69
  • Peer Reviewed
• [Journal Article] The novel CTSC homozygous nonsense mutation p.Lys106X in a patient with Papillon-Lefèvre syndrome with all permanent teeth remaining at over 40 years of age (2013)
  • Author(s): Kobayashi T, Sugiura K, Takeichi T, Akiyama M.
  • Journal Title: Br J Dermatol Volume: 169 Pages: 948-50
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• [Journal Article] What autoantibody tests should become widely available to help scleroderma diagnosis and management? (2013)
  • Author(s): Muro Y, Sugiura K, Akiyama M.
  • Journal Title: Arthritis Res Ther Volume: 15 Pages: 116-116
  • Peer Reviewed
• [Journal Article] Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease (2013)
  • Author(s): Kono M, Sugiura K, Suganuma M, Hayashi M, Takama H, Suzuki T, Matsunaga K, Tomita Y, Akiyama M.
  • Journal Title: Hum Mol Genet Volume: 22 Pages: 3524-33
  • Peer Reviewed
• [Journal Article] Impaired epidermal permeability barrier in mice lacking the Elovl1 gene responsible for very long-chain fatty acid production (2013)
  • Author(s): Sassa T, Ohno Y, Suzuki S, Nomura T, Nishioka C, Kashiwagi T, Hirayama T, Akiyama M, Taguchi R, Shimizu H, Itohara S, Kihara A.
  • Journal Title: Mol Cell Biol Volume: 33 Pages: 2787-96
  • Peer Reviewed
• [Journal Article] Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe (2013)
  • Author(s): Sugiura K, Suga Y, Akiyama M.
  • Journal Title: J Dermatol Sci Volume: 72 Pages: 197-9
  • Peer Reviewed
• [Journal Article] Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean (2013)
  • Author(s): Sugiura K, Takeichi T, Tanahashi K, Ito Y, Kosho T, Saida K, Uhara H, Okuyama R, Akiyama M.
  • Journal Title: J Dermatol Sci Volume: 72 Pages: 193-5
  • Peer Reviewed
• [Journal Article] Aberrant distribution patterns of corneodesmosomal components of tape-stripped corneocytes in atopic dermatitis and related skin conditions (ichthyosis vulgaris, Netherton syndrome and peeling skin syndrome type B) (2013)
  • Author(s): Igawa S, Kishibe M, Honma M, Murakami M, Mizuno Y, Suga Y, Seishima M, Ohguchi Y, Akiyama M, Hirose K, Ishida-Yamamoto A, Iizuka H.
  • Journal Title: J Dermatol Sci Volume: 72 Pages: 54-60
  • Peer Reviewed
• [Journal Article] Possible roles of barrier-to-autointegration factor 1 in regulation of keratinocyte differentiation and proliferation (2013)
  • Author(s): Takama H, Sugiura K, Ogawa Y, Muro Y, Akiyama M.
  • Journal Title: J Dermatol Sci Volume: 71 Pages: 100-6
  • Peer Reviewed
• [Journal Article] Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia (2013)
  • Author(s): Sugiura K, Teranishi M, Matsumoto Y, Akiyama M.
  • Journal Title: JAMA Dermatol Volume: 149 Pages: 1350-1
  • Peer Reviewed
• [Journal Article] Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood. (2013)
  • Author(s): Tanahashi K, Sugiura K, Takeichi T, Takama H, Shinkuma S, Shimizu H, Akiyama M.
  • Journal Title: J Eur Acad Dermatol Venereol Volume: 27 Issue: 9 Pages: 1182-1184
  • DOI: 10.1111/j.1468-3083.2012.04526.x
  • Peer Reviewed
• [Journal Article] Clinico-pathologic Analysis of 66 Japanese Thin Melanomas with Metastasis of Sentinel or Regional Lymph Node. (2013)
  • Author(s): Mori M, Sugiura M, Kono M, Matsumoto T, Sawada M, Yokota K, Yasue S, Shibata S, Sakakibara A, Nakamura S, Tomita Y, Akiyama M.
  • Journal Title: J Cutan Pathol Volume: 40 Issue: 12 Pages: 1027-34
  • DOI: 10.1111/cup.12222
  • Peer Reviewed
• [Journal Article] Intractable erythematous plaques on the hands: palmoplantar eosinophilic pustular folliculitis (2013)
  • Author(s): Izumi K, Yanagi T, Akiyama M, Moriuchi R, Arita K, Shimizu H.
  • Journal Title: Int J Dermtol Volume: 52 Issue: 10 Pages: 1274-1275
  • DOI: 10.1111/j.1365-4632.2011.05139.x
  • Peer Reviewed
• [Journal Article] Metastatic skin lesions of multiple myeloma presenting as two extraordinarily large subcutaneous tumors (2013)
  • Author(s): Karasawa T, Matsumoto T, Akiyama M.
  • Journal Title: Int J Dermatol Volume: 52 Issue: 12 Pages: 1568-1570
  • DOI: 10.1111/j.1365-4632.2011.05231.x
  • Peer Reviewed
• [Journal Article] Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link? (2013)
  • Author(s): Kono M, Akiyama M, Suganuma M, Sanchez-Valle A, Tomita Y.
  • Journal Title: Int J Dermatol Volume: 52 Issue: 12 Pages: 1582-4
  • DOI: 10.1111/j.1365-4632.2011.05372.x
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• [Journal Article] Sporadic VACTERL association in a Japanese family with Sjogren-Larsson syndrome. (2013)
  • Author(s): Takeichi T, Sugiura K, Arai H, Ishii K, Kono M, Akiyama M.
  • Journal Title: Acta Dermato-Venereol Volume: 93 Issue: 5 Pages: 579-580
  • DOI: 10.2340/00015555-1526
  • Peer Reviewed
• [Journal Article] Postoperative DAV-IFN-β therapy does not improve survival rates of stage II and stage III melanoma patients significantly (2013)
  • Author(s): Matsumoto T, Yokota K, Sawada M, Sakakibara A, Shibata S, Yasue S, Tomita Y, Yatsuya H, Akiyama M.
  • Journal Title: J Eur Acad Dermatol Venereol Volume: 27 Issue: 12 Pages: 1514-1520
  • DOI: 10.1111/jdv.12040
  • Peer Reviewed
• [Journal Article] Low prevalence of anti-small ubiquitin-like modifier activating enzyme antibodies in dermatomyositis patients (2013)
  • Author(s): Muro Y, Sugiura K, Akiyama M.
  • Journal Title: Autoimmunity Volume: 46 Issue: 4 Pages: 279-284
  • DOI: 10.3109/08916934.2012.755958
  • Peer Reviewed
• [Journal Article] A novel ATP2C1 early truncation mutation suggests haploinsufficiency as a pathogenic mechanism in a patient with Hailey-Hailey disease. (2013)
  • Author(s): Shibata A, Sugiura K, Kimura U, Takamori K, Akiyama M.
  • Journal Title: Acta Dermato-Venereol Volume: 93 Issue: 6 Pages: 719-720
  • DOI: 10.2340/00015555-1551
  • Peer Reviewed
• [Journal Article] Jacyk、Ken Natsuga、Hideyuki Ujiie、Hideki Nakamura、Masashi Akiyama、Hiroshi Shimizu (2013)
  • Author(s): Satoru Shinkuma、Wataru Nishie、 Witold K
  • Journal Title: A Novel Keratin 5 Mutation in an African Family with Epidermolysis Bullosa Simplex Indicates the Importance of the Amino Acid Located at the Boundary Site Between the H1 and Coil 1A Domains Volume: 印刷中 Issue: 5 Pages: 585-587
  • DOI: 10.2340/00015555-1538
  • Peer Reviewed
• [Journal Article] Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma. (2013)
  • Author(s): Shimizu Y, Sugiura K, Aoyama Y, Ogawa Y, Hitomi K, Iwatsuki K, Akiyama M.
  • Journal Title: J Dermatol Volume: 40 Issue: 7 Pages: 581-582
  • DOI: 10.1111/1346-8138.12169
  • Peer Reviewed
• [Journal Article] Cutaneous lupus mucinosis successfully treated with systemic corticosteroid and tacrolimus combination therapy (2013)
  • Author(s): Sugiura K, Tanahashi K, Muro Y, Akiyama M.
  • Journal Title: J Am Acad Dermatol Volume: 69 Issue: 4 Pages: e200-e202
  • DOI: 10.1016/j.jaad.2013.04.057
  • Peer Reviewed
• [Journal Article] The majority of generalized pusular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist. (2013)
  • Author(s): Sugiura K, Takemoto A, Yamaguchi M, Takahashi H, Shoda Y, Mitsuma T, Tsuda K, Nishida E, Togawa Y, Nakajima K, Sakakibara A, Kawachi S, Shimizu M, Ito Y, Takeichi T, Kono M, Ogawa Y, Muro Y, Ishida-Yamamoto A, Sano S, Matsue H, Morita A, Mizutani H, Iizuka H, Muto M, Akiyama M.
  • Journal Title: J Invest Dermatol Volume: 133 Issue: 11 Pages: 2514-2521
  • DOI: 10.1038/jid.2013.230
  • Peer Reviewed
• [Journal Article] Impaired epidermal permeability barrier in mice lacking the Elovl1 gene responsible for very long-chain fatty acid production. (2013)
  • Author(s): Sassa T, Ohno Y, Suzuki S, Nomura T, Nishioka C, Kashiwagi T, Hirayama T, Akiyama M, Taguchi R, Shimizu H, Itohara S, Kihara A.
  • Journal Title: Mol Cell Biol Volume: 33 Issue: 14 Pages: 2787-2796
  • DOI: 10.1128/mcb.00192-13
  • Peer Reviewed
• [Journal Article] Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease. (2013)
  • Author(s): Kono M, Sugiura K, Suganuma M, Hayashi M, Takama H, Suzuki T, Matsunaga K, Tomita Y, Akiyama M.
  • Journal Title: Hum Mol Genet Volume: 22 Issue: 17 Pages: 3524-3533
  • DOI: 10.1093/hmg/ddt207
  • Peer Reviewed
• [Journal Article] Aberrant distribution patterns of corneodesmosomal components of tape-stripped corneocytes in atopic dermatitis and related skin conditions (ichthyosis vulgaris, Netherton syndrome and peeling skin syndrome type B). (2013)
  • Author(s): Igawa S, Kishibe M, Honma M, Murakami M, Mizuno Y, Suga Y, Seishima M, Ohguchi Y, Akiyama M, Hirose K, Ishida-Yamamoto A, Iizuka H.
  • Journal Title: J Dermatol Sci Volume: 72 Issue: 1 Pages: 54-60
  • DOI: 10.1016/j.jdermsci.2013.05.004
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• [Journal Article] Benefit of skin ultrasound examination in determining the area of inguinal lymph node dissection (2013)
  • Author(s): Kobayashi T, Yokota K, Sawada M, Matsumoto T, Akiyama M.
  • Journal Title: J Dermatol Volume: 40 Issue: 9 Pages: 765-766
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  • Peer Reviewed
• [Journal Article] Extraordinarily long linear cutaneous lupus erythematosus along the lines of blaschko (2013)
  • Author(s): Aiyama A, Muro Y, Sugiura K, Onouchi H, Akiyama M.
  • Journal Title: Dermatol Online J Volume: 19 Pages: 18960-18960
  • Peer Reviewed
• [Journal Article] Alopecia totalis in monosomy 18p (2013)
  • Author(s): Sugiura K, Takeichi T, Akiyama M.
  • Journal Title: Eur J Dermatol Volume: 23 Issue: 6 Pages: 899-900
  • DOI: 10.1684/ejd.2013.2211
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• [Journal Article] Pulmonary mucosa-associated lymphoid tissue lymphoma in Sjögren’s syndrome without interstitial pneumonia. (2013)
  • Author(s): Kobayashi T, Muro Y, Sugiura K, Akiyama M.
  • Journal Title: Int J Rheum Dis Volume: 16 Issue: 6 Pages: 780-782
  • DOI: 10.1111/1756-185x.12210
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• [Journal Article] Novel ADAR1 mutations including single amino acid deletion in the deaminase domain underly dyschromatosis symmetrica hereditaria in Japanese families (2013)
  • Author(s): Kono M, Suganuma M, Ito Y, Ujiie H, Morimoto K, Akiyama M
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• [Journal Article] Extraordinarily large, giant spider angioma in an alcoholic cirrhotic patient. (2013)
  • Author(s): Hane H, Yokota K, Kono M, Muro Y, Akiyama M.
  • Journal Title: Int J Dermatol Volume: 53 Issue: 2
  • DOI: 10.1111/j.1365-4632.2012.05548.x
  • Peer Reviewed
• [Journal Article] Autoantibodies against MDA-5: very important serological markers in amyopathic dermatomyositis with rapidly progressive interstitial lung disease (2013)
  • Author(s): Muro Y, Sugiura K, Akiyama M.
  • Journal Title: Clin Lab Int Volume: November Pages: 33-35
• [Journal Article] Impact of next generation sequencing on diagnostics in a genetic skin (2013)
  • Author(s): Takeichi T, Nanda A, Liu L, Salam A, Campbell P, Fong K, Akiyama M, Ozoemena L, Stone K, Al-Ajmi H, Simpson M, McGrath J.
  • Journal Title: Exp Dermatol Volume: 22 Issue: 12 Pages: 825-831
  • DOI: 10.1111/exd.12276
  • Peer Reviewed
• [Journal Article] A new ELISA for dermatomyositis autoantibodies: rapid introduction of autoantigen cDNA to recombinant assays for autoantibody measurement. (2013)
  • Author(s): Muro Y, Sugiura K, Akiyama M.
  • Journal Title: Clin Dev Immunol Volume: 2013 Pages: 856815-856815
  • DOI: 10.1155/2013/856815
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• [Journal Article] Paraneoplastic pemphigus with anti-laminin-332 autoantibodies in a patient with follicular dendritic cell sarcoma (2013)
  • Author(s): Sugiura K
  • Journal Title: JAMA Dermatol Volume: 149 Issue: 1 Pages: 111-113
  • DOI: 10.1001/2013.jamadermatol.512
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• [Journal Article] Low prevalence of anti-DFS70/LEDGF antibodies in patients with dermatomyositis and with other systemic autoimmune rheumatic diseases (2013)
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  • Journal Title: J Rheumatol Volume: 40 Issue: 1 Pages: 92-93
  • DOI: 10.3899/jrheum.121168
  • Peer Reviewed
• [Journal Article] Limitations of a single-point evaluation of anti-MDA5 antibody, ferritin, and IL-18 in predicting the prognosis of interstitial lung disease with anti-MDA5 antibody-positive dermatomyositis (2013)
  • Author(s): Muro Y
  • Journal Title: Clin Rheumatol Volume: 32 Issue: 3 Pages: 395-398
  • DOI: 10.1007/s10067-012-2142-x
  • Peer Reviewed
• [Journal Article] Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis (2013)
  • Author(s): Takeichi T, Sugiura K, et al.
  • Journal Title: J Dermatol Sci Volume: 69 Issue: 3 Pages: 259-261
  • DOI: 10.1016/j.jdermsci.2012.11.004
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• [Journal Article] Low prevalence of autoantibodies to CENP-H, -I, -K, -L, -M, -N, -T and -U in a Japanese cohort of anti-centromere positive samples (2013)
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  • Journal Title: Immunopharmacol Immunotoxicol Volume: 35 Issue: 1 Pages: 57-63
  • DOI: 10.3109/08923973.2012.733707
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• [Journal Article] Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'exonuclease 1 (2012)
  • Author(s): Sugiura K, Takeichi T, Kono M, Ito Y, Ogawa Y, Muro Y, Akiyama M.
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• [Journal Article] Perinatal cytomegalovirus-associated bullae in an immunocompetent infant (2012)
  • Author(s): Yasuda K, Sugiura K, et al.
  • Journal Title: Arch Dermatol Volume: 148 Issue: 6 Pages: 770-772
  • DOI: 10.1001/archdermatol.2011.3258
  • Peer Reviewed
• [Journal Article] Autoantibodies to nuclear matrix protein 2 /MJ in adult-onset dermatomyositis with severe calcinosis (2012)
  • Author(s): Sugiura K
  • Journal Title: J Am Acad Dermatol Volume: 67 Issue: 4 Pages: e167-e168
  • DOI: 10.1016/j.jaad.2012.01.015
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• [Journal Article] Development of an ELISA for detection of autoantibodies to nuclear matrix protein 2 (2012)
  • Author(s): Ishikawa A
  • Journal Title: Rheumatology (Oxford) Volume: 51 Issue: 7 Pages: 1181-1187
  • DOI: 10.1093/rheumatology/kes033
  • Peer Reviewed
• [Journal Article] Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria (2012)
  • Author(s): Kono M, Akiyama M, Kondo T, Suzuki T, Suganuma M, Wataya-Kaneda M, Lam J, Shibaki A, Tomita Y
  • Journal Title: J Dermatol Volume: 39 Issue: 9 Pages: 819-21
  • DOI: 10.1111/j.1346-8138.2011.01385.x
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• [Journal Article] Drug eruption due to sodium picosulfate (2012)
  • Author(s): Ishikawa A
  • Journal Title: Eur J Dermatol Volume: 22 Issue: 3 Pages: 410-411
  • DOI: 10.1684/ejd.2012.1679
  • Peer Reviewed
• [Journal Article] Clinical features of anti-TIF1-α antibody-positive dermatomyositis patients are closely associated with coexistent dermatomyositis-specific autoantibodies and anti-TIF1-γ or anti-Mi-2 autoantibodies (2012)
  • Author(s): Muro Y
  • Journal Title: Rheumatology (Oxford) Volume: 51 Issue: 8 Pages: 1508-1513
  • DOI: 10.1093/rheumatology/kes073
  • Peer Reviewed
• [Journal Article] A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult-onset generalized pustular psoriasis (2012)
  • Author(s): Sugiura K
  • Journal Title: Br J Dermatol Volume: 167 Issue: 3 Pages: 699-701
  • DOI: 10.1111/j.1365-2133.2012.10953.x
  • Peer Reviewed
• [Journal Article] The β9 Loop Domain of PA-PLA(1)α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis (2012)
  • Author(s): Shinkuma S, Inoue A, Aoki J, Nishie W, Natsuga K, Ujiie H, Nomura T, Abe R, Akiyama M, Shimizu H
  • Journal Title: The Journal of Investigative Dermatology Volume: (印刷中) Issue: 8 Pages: 2093-2095
  • DOI: 10.1038/jid.2012.96
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• [Journal Article] Extraordinarily large protruding accessory breast cancer in a male (2012)
  • Author(s): Yoshida Y
  • Journal Title: J Am Acad Dermatol Volume: 67 Issue: 5 Pages: e230-e231
  • DOI: 10.1016/j.jaad.2012.04.034
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• [Journal Article] A group of atopic dermatitis without IgE elevation or barrier impairment shows a high Th1 frequency: Possible immunological state of the intrinsic type (2012)
  • Author(s): Kabashima-Kubo R, Nakamura M, Sakabe, J, Sigita K, Hino R, Mori T, Kobayashi M, Bito T, Kabashima K, Ogasawara K, Nomura Y, Nomura T, Akiyama M, Shimizu H, Tokura Y.
  • Journal Title: J Dermatol Sci Volume: 67 Issue: 1 Pages: 37-43
  • DOI: 10.1016/j.jdermsci.2012.04.004
  • Peer Reviewed
• [Journal Article] Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent in the exonuclease domains of 3'-repair exonuclease 1 (2012)
  • Author(s): Sugiura K
  • Journal Title: J Invest Dermatol Volume: 132 Issue: 12 Pages: 2855-2857
  • DOI: 10.1038/jid.2012.210
  • Peer Reviewed
• [Journal Article] Coexistence of pustular and vegetative pyoderma gangrenosum in a patient with myelodysplastic syndrome (2012)
  • Author(s): Omiya W
  • Journal Title: Eur J Dermatol Volume: 22 Issue: 5 Pages: 1659-1671
  • DOI: 10.1684/ejd.2012.1813
  • Peer Reviewed
• [Journal Article] Type VII collagen deficiency causesdefective tooth enamel formation due to poor differentiation of ameloblasts (2012)
  • Author(s): Umemoto H, Akiyama M, Domon T, Nomura T, Shinkuma S, Ito K, Asaka T, Sawamura D, Uitto J, Uo M, Kitagawa Y, Shimizu H
  • Journal Title: Am J Pathol Volume: 181 Issue: 5 Pages: 1659-71
  • DOI: 10.1016/j.ajpath.2012.07.018
  • Peer Reviewed
• [Journal Article] Angiokeratoma of the scrotum and sublingual varices in a patient with jejunal phlebectasia (2012)
  • Author(s): Takama H
  • Journal Title: Eur J Dermatol Volume: 22 Issue: 6 Pages: 818-819
  • DOI: 10.1684/ejd.2012.1868
  • Peer Reviewed
• [Journal Article] Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma (2012)
  • Author(s): Pohler E
  • Journal Title: Nat Genet Volume: 44 Issue: 11 Pages: 1272-1276
  • DOI: 10.1038/ng.2444
  • Peer Reviewed
• [Presentation] 表皮細胞の分化に対する脂肪滴の影響 (2013)
  • Author(s): 秋山真志
  • Organizer: 第86回日本生化学大会
  • Place of Presentation: 横浜市、パシフィコ横浜
  • Year and Date: 2013-09-11
• [Presentation] 地中海沿岸地域以外で認められた、CYP4F22遺伝子変異による葉状魚鱗癬 (2013)
  • Author(s): 杉浦一充、武市拓也、棚橋華奈、古庄知己、宇原久、奥山隆平、秋山真志
  • Organizer: 稀少難治性皮膚疾患に関する調査研究班平成25年度第1回総会
  • Place of Presentation: 東京都千代田区、KKRホテル東京
  • Year and Date: 2013-07-19
• [Presentation] 皮膚疾患とバリア機能障害 : 最近の動向 (2013)
  • Author(s): 秋山真志
  • Organizer: 第112回日本皮膚科学会総会
  • Place of Presentation: 横浜市、パシフィコ横浜
  • Year and Date: 2013-06-06
• [Presentation] アトピー性皮膚炎の発症機序はどこまで解明されているか? (2013)
  • Author(s): 秋山真志
  • Organizer: 第29回日本臨床皮膚科医会総会・臨床学術大会
  • Place of Presentation: 名古屋市、ナゴヤキャッスル
  • Year and Date: 2013-04-07
• [Presentation] わかりやすい皮膚遺伝性疾患遺伝性角化症とアトピー性皮膚炎 (2012)
  • Author(s): 秋山真志
  • Organizer: 第111回日本皮膚科学会総会
  • Place of Presentation: 京都市、京都国際会館
  • Year and Date: 2012-06-03
• [Presentation] 角化症診療のカッティング・エッジ角化症の出生前診断up-to-date (2012)
  • Author(s): 秋山真志
  • Organizer: 第111回日本皮膚科学会総会
  • Place of Presentation: 京都市、京都国際会館
  • Year and Date: 2012-06-01
• [Presentation] アトピー性疾患と皮膚角層のバリア機能障害～最近のトピックスも交えて～
  • Author(s): 秋山真志
  • Organizer: 第１回 GSKINセミナー in 仙台
  • Place of Presentation: 仙台市、勝山館
  • Invited
• [Presentation] 皮膚バリア機能障害から考えるアトピー性皮膚炎の病態と治療
  • Author(s): 秋山真志
  • Organizer: 皮膚疾患を考える会 in Yokosuka
  • Place of Presentation: 横須賀市、セントラルホテル
  • Invited
• [Presentation] アレルギー性疾患と角層のバリア機能障害：どこまで関連しているのか？
  • Author(s): 秋山真志
  • Organizer: 第22回 旭川皮膚免疫研究会
  • Place of Presentation: 旭川市、ロワージホテル旭川
  • Invited
• [Presentation] アトピー性皮膚炎の多様な病態と治療：フィラグリン遺伝子変異から内因性アトピーまで
  • Author(s): 秋山真志
  • Organizer: 青森市皮膚科医会学術講演会
  • Place of Presentation: 青森市、アップルパレス青森
  • Invited
• [Presentation] 皮膚バリア機能障害から考えるアトピー性疾患の病態と治療
  • Author(s): 秋山真志
  • Organizer: 山梨県皮膚科医会学術講演会
  • Place of Presentation: 甲府市、古名屋ホテル
  • Invited
• [Presentation] 皮膚科研究の醍醐味と臨床への還元
  • Author(s): 秋山真志
  • Organizer: 第2回北海道皮膚IVIG療法研究会
  • Place of Presentation: 札幌市、京王プラザホテル札幌
  • Invited
• [Presentation] 皮膚疾患とバリア機能障害： 最近の動向
  • Author(s): 秋山真志
  • Organizer: 第112回 日本皮膚科学会総会
  • Place of Presentation: 横浜市、パシフィコ横浜
  • Invited
• [Presentation] 皮膚バリアの基礎知見 up-to-date
  • Author(s): 秋山真志
  • Organizer: 日本香粧品学会 第３８回教育セミナー
  • Place of Presentation: 東京都港区、ヤクルトホール
  • Invited
• [Presentation] アトピー性皮膚炎の発症機序はどこまで解明されているか？
  • Author(s): 秋山真志
  • Organizer: 第29回 日本臨床皮膚科医会総会・臨床学術大会
  • Place of Presentation: 名古屋市、ウエスティンナゴヤキャッスル
  • Invited
• [Presentation] 表皮細胞の分化に対する脂肪滴の影響
  • Author(s): 秋山真志
  • Organizer: 第86回 日本生化学会大会
  • Place of Presentation: 横浜市、パシフィコ横浜
  • Invited
• [Presentation] 角化症診療のカッティング・エッジ 角化症の出生前診断 up-to-date
  • Author(s): 秋山真志
  • Organizer: 第111回日本皮膚科学会総会
  • Place of Presentation: 京都国際会館
  • Invited
• [Presentation] 教育講習会、わかりやすい皮膚遺伝性疾患 遺伝性角化症とアトピー性皮膚炎
  • Author(s): 秋山真志
  • Organizer: 第111回日本皮膚科学会総会
  • Place of Presentation: 京都国際会館
  • Invited
• [Presentation] 教育講演、表皮の構造と機能
  • Author(s): 秋山真志
  • Organizer: 第30回日本美容皮膚科学会総会、学術大会
  • Place of Presentation: ウエスティンナゴヤキャッスルホテル
  • Invited
• [Presentation] 教育セミナー、皮膚アレルギーHot Topics アレルギー性疾患に対する皮膚角層バリア機能障害の関与を考える
  • Author(s): 秋山真志
  • Organizer: 第62回日本アレルギー学会秋季学術大会
  • Place of Presentation: 大阪国際会議場
  • Invited
• [Presentation] 皮膚バリア障害から考えるアトピー性疾患の病態と治療法
  • Author(s): 秋山真志
  • Organizer: 平成24年度日本医師会主催生涯教育講座（皮膚科）
  • Place of Presentation: 愛知県医師会館地下講堂
  • Invited
• [Presentation] ランチプログラム、アトピー性皮膚炎のトピックス、アトピー性皮膚炎の発症とバリア機能
  • Author(s): 秋山真志
  • Organizer: 第24回日本アレルギー学会春季臨床大会
  • Place of Presentation: 大阪国際会議場
  • Invited
• [Presentation] ランチョンセミナー、アレルギー性疾患とフィラグリン遺伝子変異
  • Author(s): 秋山真志
  • Organizer: 第63回日本皮膚科学会中部支部学術大会
  • Place of Presentation: グランキューブ大阪
  • Invited
• [Presentation] イブニングセミナー、アトピー性皮膚炎と皮膚バリア機能障害
  • Author(s): 秋山真志
  • Organizer: 第63回日本皮膚科学会中部支部学術大会
  • Place of Presentation: グランキューブ大阪
  • Invited
• [Presentation] Sweets’ seminar、Stratum corneum barrier defects and atopic disorders; tight junctions
  • Author(s): Akiyama M
  • Organizer: The 37th Annual Meeting of the Japanese Society for Investigative Dermatology
  • Place of Presentation: ロワジールホテル那覇
  • Invited
• [Presentation] ABCA12機能障害による先天性魚鱗癬様紅皮症の発症機序の解明と治療法の開発
  • Author(s): 秋山真志
  • Organizer: 稀少難治性皮膚疾患に関する調査研究班 平成24年度第１回総会
  • Place of Presentation: KKRホテル東京
• [Presentation] 新規レジストリーとコホート調査の現状と今後の予定
  • Author(s): 秋山真志
  • Organizer: 稀少難治性皮膚疾患に関する調査研究班 平成24年度第１回総会
  • Place of Presentation: KKRホテル東京
• [Presentation] 新規レジストリーとコホート調査の現状と今後の予定
  • Author(s): 秋山真志
  • Organizer: 稀少難治性皮膚疾患に関する調査研究班 平成24年度第2回総会
  • Place of Presentation: KKRホテル東京
• [Remarks] 名古屋大学医学部皮膚科ホームページ
  • URL: http://www.med.nagoya-u.ac.jp/derma/
• [Remarks] 名古屋大学皮膚科研究内容
  • URL: http://www.med.nagoya-u.ac.jp/derma/research.html