トップページ研究室紹介(臨床医学領域)運動・形態外科学 皮膚病態学/皮膚結合組織病態学(皮膚科学)

運動・形態外科学

皮膚病態学/皮膚結合組織病態学(皮膚科学)

附属病院 診療科へのリンクはこちら 「皮膚科」

研究室概要

当教室は、明治38年に楠太先生を主任とする皮膚病花柳病科として創設されて以来、105年の長い歴史と伝統に育まれた教室です。当教室は、開講以来、優れた皮膚科臨床医を輩出し、東海地区の地域医療に貢献して参りました。さらに、私たちは、世界のリーダーシップをとり、皮膚科学の発展に寄与するような高いレベルの臨床、研究を展開すべき役割を担ってきました。平成22年現在、同窓は300名を超え、中部地区を中心に全国レベルで皮膚科学の臨床・研究に活躍しています。

名古屋大学医学部皮膚科ウェブサイトへ

教員

構成員名/英名表記 役職 所属
秋山 真志/AKIYAMA Masashi
詳しくはこちら→
教授皮膚病態学
室 慶直/MURO Yoshinao
詳しくはこちら→
准教授皮膚結合組織病態学
河野 通浩/KONO Michihiro
詳しくはこちら→
准教授皮膚病態学
横田 憲二/YOKOTA Kenji
詳しくはこちら→
講師皮膚病態学
松本 高明/MATSUMOTO Takaaki
詳しくはこちら→
助教皮膚科
小川 靖/OGAWA Yasushi
詳しくはこちら→
助教皮膚科
武市 拓也/TAKEICHI Takuya
詳しくはこちら→
助教皮膚科
長谷川 佳恵/HASEGAWA Yoshie
詳しくはこちら→
病院助教皮膚科

研究・診療グループ/研究プロジェクト紹介

皮膚外科・皮膚腫瘍診療グループ

皮膚悪性腫瘍(悪性黒色腫、有棘細胞癌、Paget病等)の集学的診療

皮膚疾患の分子遺伝学、遺伝性皮膚疾患研究グループ

(1) 道化師様魚鱗癬等、重症型角化異常症の病態解明、遺伝子変異解析: 出生前診断から治療法の開発へ
(2) 遺伝性対側性色素異常症(DSH)および網状肢端色素沈着症(RAK)の病態研究と遺伝性色素性疾患の遺伝子診断
(3) アトピー性皮膚炎の発症因子、フィラグリン遺伝子変異: アトピー性疾患のテーラーメイド予防

Cell Stress & Autoimmunity研究グループ

(1)膠原病・各種疾患における抗核抗体と対応抗原の病理学的解析
 (A)セントロメア構成因子に対する自己免疫応答の解析
 (B) 乏筋炎性皮膚筋炎のマーカー自己抗体“抗MDA5抗体”と癌合併皮膚筋炎のマーカー自己抗体“抗TIF1-γ抗体”の検出系の開発

(2)表皮角化細胞におけるDFS70/LEDGFと小胞体ストレス応答の研究
 (A)DFS70/LEDGFの乾癬表皮における局在とその病理学的意義
 (B)表皮角化細胞の分化における小胞体ストレス応答の意義

業績リスト

Selected Recent Publications

Kono M, Nomura T, Oguchi Y, Mizuno O, Suzuki S, Tsujiuchi H, Hamajima N, McLean WHI, Shimizu H, Akiyama M.
Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations.
Allergy 69(4): 537-40, 2014. doi: 10.1111/all.12369.

 

Tanahashi K, Sugiura K, Kono M, Takama H, Hamajima N and Akiyama M.
Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.
PLoS One (2014) 9(2): e89261.

 

Sugiura K, Shoda Y and Akiyama M.
Generalized pustular psoriasis triggered by amoxicillin in monozygotic twins with compound heterozygous IL36RN mutations: comment on the article by Navarini et al.
J Invest Dermatol (2014) 134(2): 578-9.

 

Sugiura K, Oiso N, Iinuma S, Matsuda H, Minami-Hori M, Ishida-Yamamoto A, Kawada A, Iizuka H and Akiyama M.
IL36RN mutations underlie impetigo herpetiformis.
J Invest Dermatol (2014) 134(9): 2472-4.

 

Sugiura K, Muto M and Akiyama M.
CARD14 c.526G>C (p.Asp176His) is a significant risk factor for generalized pustular psoriasis with psoriasis vulgaris in the Japanese cohort.
J Invest Dermatol (2014) 134(6): 1755-7.

 

Sugiura K, Muro Y and Akiyama M.
Solitary organizing pneumonia mimicking lung adenocarcinoma in systemic sclerosis.
Arthritis Rheumatol (2014) 66(9): 2648.

 

Shimizu Y, Ogawa Y, Sugiura K, Takeda J, Sakai-Sawada K, Yanagi T, Kon A, Sawamura D, Shimizu H and Akiyama M.
A palindromic motif in the -2084 to -2078 upstream region is essential for ABCA12 promoter function in cultured human keratinocytes.
Sci Rep (2014) 46737.

 

Shibata A, Ogawa Y, Sugiura K, Muro Y, Abe R, Suzuki T and Akiyama M.
High survival rate of harlequin ichthyosis in Japan.
J Am Acad Dermatol (2014) 70(2): 387-8.

 

Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M and McGrath JA.
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Am J Hum Genet (2014) 95(3): 308-14.

 

Ogawa Y, Takeichi T, Kono M, Hamajima N, Yamamoto T, Sugiura K and Akiyama M.
Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis.
PLoS Genet (2014) 10(5): e1004276.

 

Muro Y, Sugiura K and Akiyama M.
Is the measurement of anti-PM-1alpha antibodies at least as important as that of other systemic sclerosis-specific antibodies? Comment on the article by D'Aoust et al.
Arthritis Rheumatol (2014) 66(11): 3248.

 

Muro Y, Nakashima R, Hosono Y, Sugiura K, Mimori T and Akiyama M.
Autoantibodies to DNA mismatch repair enzymes in polymyositis/dermatomyositis and other autoimmune diseases: A possible marker of favorable prognosis.
Arthritis Rheumatol (2014).

 

Campbell P, Morton PE, Takeichi T, Salam A, Roberts N, Proudfoot LE, Mellerio JE, Aminu K, Wellington C, Patil SN, Akiyama M, Liu L, McMillan JR, Aristodemou S, Ishida-Yamamoto A, Abdul-Wahab A, Petrof G, Fong K, Harnchoowong S, Stone KL, Harper JI, McLean WH, Simpson MA, Parsons M and McGrath JA.
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.
J Invest Dermatol (2014) 134(10): 2570-8.

 

Muro Y, Sugiura K, Nakashima R, Mimori T, Akiyama M.
Low prevalence of anti-DFS70/LEDGF antibodies in patients with dermatomyositis and other systemic autoimmune rheumatic diseases.
J Rheumatol 40(1): 92-93, 2013.

 

Muro Y, Sugiura K, Akiyama M.
Low prevalence of anti-small ubiquitin-like modifier activating enzyme antibodies in dermatomyositis patients.
Autoimmunity 46(4): 279-284, 2013.

 

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.
The majority of generalized pusular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.
J Invest Dermatol 133(11): 2514-2521, 2013.

 

Sassa T, Ohno Y, Suzuki S, Nomura T, Nishioka C, Kashiwagi T, Hirayama T,Akiyama M, Taguchi R, Shimizu H, Itohara S, Kihara A.
Impaired epidermal permeability barrier in mice lacking the Elovl1 gene responsible for very long-chain fatty acid production.
Mol Cell Biol 33: 2787-2796, 2013.

 

Kono M, Sugiura K, Suganuma M, Hayashi M, Takama H, Suzuki T, Matsunaga K,Tomita Y, Akiyama M.
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.
Hum Mol Genet 22(17): 3524-3533, 2013.

 

Muro Y, Sugiura K, Hoshino K, Akiyama M.
Disappearance of anti-MDA-5 autoantibodies in clinically amyopathic DM/interstitial lung disease during disease remission.
Rheumatology (Oxford) 51(5): 800-804, 2012.

 

Ishikawa A, Muro Y, Sugiura K, Akiyama M.
Development of an ELISA for detection of autoantibodies to nuclear matrix protein 2.
Rheumatology (Oxford) 51(7): 1181-1187, 2012.

 

Muro Y, Ishikawa A, Sugiura K, Akiyama M.
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.
Rheumatology (Oxford) 51(8): 1508-1513, 2012.

 

Sugiura K, Takeichi T, Kono M, Ogawa Y, Shimoyama Y, Muro Y, Akiyama M.
A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult-onset generalized pustular psoriasis.
Br J Dermatol 167(3): 699-701, 2012.

 

Sugiura K, Takeichi T, Kono M, Ito Y, Ogawa Y, Muro Y, Akiyama M.
Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1.
J Invest Dermatol 132(12): 2855-2857, 2012.

 

Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran BE, Wilson NJ, Smith FJD, Goh CSM, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro A, Konohana I, Shboul M, Teissier, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WHI.
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Nat Genet 44(11): 1272-1276, 2012.

 

Li Q, Frank M, Akiyama M, Shimizu H, Ho S-Y, Thisse C, Thisse B, Sprecher E, Uitto J.
Abca12-mediated lipid transport and snap29-dependent trafficking of lamellar granules are critical for epidermal morphogenesis in zebrafish disease model of ichthyosis.
Dis Model Mech 4: 777-785, 2011.

 

Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, Digiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taieb A,Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H.
Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009.
J Am Acad Dermatol 63: 607-641, 2010.

 

Ogawa Y, Nonaka Y, Goto T, Ohnishi E, Hiramatsu T, Kii I, Yoshida M, Ikura T, Onogi H, Shibuya H, Hosoya T, Ito N, Hagiwara M.
Development of a novel selective inhibitor of the Down syndrome-related kinase Dyrk1A.
Nature Communications 1(7): 86, 2010

2014

Kono M, Nomura T, Oguchi Y, Mizuno O, Suzuki S, Tsujiuchi H, Hamajima N, McLean WHI, Shimizu H, Akiyama M.
Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations.
Allergy 69(4): 537-40, 2014.

 

Yasuda K, Sugiura K, Takeichi T, Ogawa Y, Muro Y and Akiyama M.
Nuclear envelope localization of Ran-binding protein 2 and Ran-GTPase-activating protein 1 in psoriatic epidermal keratinocytes.
Exp Dermatol (2014) 23(2): 119-24.

 

Tanahashi K, Sugiura K, Kono M, Takama H, Hamajima N and Akiyama M.
Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.
PLoS One (2014) 9(2): e89261.

 

Tanahashi K, Sugiura K, Asagoe K, Aoyama Y, Iwatsuki K and Akiyama M.
Novel TGM1 missense mutation p.Arg727Gln in a case of self-healing collodion baby.
Acta Derm Venereol (2014) 94(5): 589-90.

 

Takeichi T, Nanda A, Liu L, Aristodemou S, McMillan JR, Sugiura K, Akiyama M, Al-Ajmi H, Simpson MA and McGrath JA.
Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.
Br J Dermatol (2014).

 

Takeichi T, Nanda A, Aristodemou S, McMillan JR, Lee J, Akiyama M, Al-Ajmi H, Simpson MA and McGrath JA.
Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.
Br J Dermatol (2014).

 

Takeichi T, Liu L, Fong K, Ozoemena L, McMillan JR, Salam A, Campbell P, Akiyama M, Mellerio JE, McLean WH, Simpson MA and McGrath JA.
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.
Br J Dermatol (2014).

 

Takeichi T, Hsu CK, Yang HS, Chen HY, Wong TW, Tsai WL, Chao SC, Lee JY, Akiyama M, Simpson MA and McGrath JA.
Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).
Br J Dermatol (2014).

 

Sugiura K, Uchiyama R, Okuyama R and Akiyama M.
Varicella zoster virus-associated generalized pustular psoriasis in a baby with heterozygous IL36RN mutation.
J Am Acad Dermatol (2014) 71(5): e216-8.

 

Sugiura K, Suga Y and Akiyama M.
Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6.
J Dermatol Sci (2014) 75(3): 199-201.

 

Sugiura K, Shoda Y and Akiyama M.
Generalized pustular psoriasis triggered by amoxicillin in monozygotic twins with compound heterozygous IL36RN mutations: comment on the article by Navarini et al.
J Invest Dermatol (2014) 134(2): 578-9.

 

Sugiura K, Oiso N, Iinuma S, Matsuda H, Minami-Hori M, Ishida-Yamamoto A, Kawada A, Iizuka H and Akiyama M.
IL36RN mutations underlie impetigo herpetiformis.
J Invest Dermatol (2014) 134(9): 2472-4.

 

Sugiura K, Muto M and Akiyama M.
CARD14 c.526G>C (p.Asp176His) is a significant risk factor for generalized pustular psoriasis with psoriasis vulgaris in the Japanese cohort.
J Invest Dermatol (2014) 134(6): 1755-7.

 

Sugiura K, Muro Y and Akiyama M.
Annular erythema associated with Sjogren's syndrome preceding overlap syndrome of rheumatoid arthritis and polymyositis with anti-PL-12 autoantibodies.
Acta Derm Venereol (2014) 94(4): 470-1.

 

Sugiura K, Muro Y and Akiyama M.
Solitary organizing pneumonia mimicking lung adenocarcinoma in systemic sclerosis.
Arthritis Rheumatol (2014) 66(9): 2648.

 

Sugiura K, Hasegawa Y, Shimoyama Y, Hashizume H and Akiyama M.
Symmetrical giant facial plaque-type juvenile xanthogranuloma persisting beyond 10 years of age.
Acta Derm Venereol (2014) 94(4): 465-6.

 

Sugiura K and Akiyama M.
Lamellar Ichthyosis Caused by a Previously Unreported Homozygous ALOXE3 Mutation in East Asia.
Acta Derm Venereol (2014).

 

Shimizu Y, Ogawa Y, Sugiura K, Takeda J, Sakai-Sawada K, Yanagi T, Kon A, Sawamura D, Shimizu H and Akiyama M.
A palindromic motif in the -2084 to -2078 upstream region is essential for ABCA12 promoter function in cultured human keratinocytes.
Sci Rep (2014) 46737.

 

Shibata A, Tanahashi K, Sugiura K and Akiyama M.
TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome.
Acta Derm Venereol (2014).

 

Shibata A, Ogawa Y, Sugiura K, Muro Y, Abe R, Suzuki T and Akiyama M.
High survival rate of harlequin ichthyosis in Japan.
J Am Acad Dermatol (2014) 70(2): 387-8.

 

Sawada M, Yokota K, Matsumoto T, Shibata S, Yasue S, Sakakibara A, Kono M and Akiyama M.
Proposed classification of longitudinal melanonychia based on clinical and dermoscopic criteria.
Int J Dermatol (2014) 53(5): 581-5.

 

Salam A, Simpson MA, Stone KL, Takeichi T, Nanda A, Akiyama M and McGrath JA.
Next generation diagnostics of heritable connective tissue disorders.
Matrix Biol (2014) 3335-40.

 

Saito K, Ito A, Ishikawa K, Shimada H, Takeo N, Hatano Y, Sugiura K, Akiyama M, Inomata M, Kitano S and Fujiwara S.
Pustular psoriasis occurring after total colectomy for ulcerative colitis and relieved by administration of infliximab.
J Dermatol (2014) 41(11): 1033-4.

 

Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M and McGrath JA.
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Am J Hum Genet (2014) 95(3): 308-14.

 

Ohguchi Y, Nomura T, Suzuki S, Mizuno O, Nomura Y, Nemoto-Hasebe I, Okamoto H, Sandilands A, Akiyama M, McLean WH and Shimizu H.
A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris.
Eur J Dermatol (2014) 24(4): 491-3.

 

Ogawa Y, Takeichi T, Kono M, Hamajima N, Yamamoto T, Sugiura K and Akiyama M.
Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis.
PLoS Genet (2014) 10(5): e1004276.

 

Ogawa M and Akiyama M.
Successful topical adapalene treatment for the facial lesions of an adolescent case of epidermolytic ichthyosis.
J Am Acad Dermatol (2014) 71(3): e103-5.

 

Nogimori M, Yokota K, Sawada M, Matsumoto T, Kono M and Akiyama M.
Spindle cell carcinoma of the breast in a patient with neurofibromatosis type 1.
Eur J Dermatol (2014) 24(3): 397-8.

 

Nin-Asai R, Sawada M, Matsumoto T, Saito S, Yokota K and Akiyama M.
Therapy-related myelodysplastic syndrome after alkylating agents and platinum-based therapy for malignant melanoma.
J Dermatol (2014) 41(2): 178-9.

 

Nin-Asai R, Kono M and Akiyama M.
Urticaria pigmentosa complicated with esophageal eosinophilia.
J Am Acad Dermatol (2014) 71(5): e207-8.

 

Nakai N, Sugiura K, Akiyama M and Katoh N.
Acute Generalized Exanthematous Pustulosis Caused by Dihydrocodeine Phosphate in a Patient With Psoriasis Vulgaris and a Heterozygous IL36RN Mutation.
JAMA Dermatol (2014).  Epub ahead of print

 

Muro Y, Tsuchisaka A, Ishii N, Hashimoto T, Sugiura K and Akiyama M.
Author's reply to "detection of anti-periplakin autoantibodies during idiopathic pulmonary fibrosis" by Taille et al.
Clin Chim Acta (2014) 433194.

 

Muro Y, Sugiura K, Shiraki A, Ishii N, Hashimoto T and Akiyama M.
Detection of autoantibodies to periplakin and envoplakin in paraneoplastic pemphigus but not idiopathic pulmonary fibrosis using full-length recombinant proteins.
Clin Chim Acta (2014) 42914-7.

 

Muro Y, Sugiura K and Akiyama M.
Is the measurement of anti-PM-1alpha antibodies at least as important as that of other systemic sclerosis-specific antibodies? Comment on the article by D'Aoust et al.
Arthritis Rheumatol (2014) 66(11): 3248.

 

Muro Y, Nakashima R, Hosono Y, Sugiura K, Mimori T and Akiyama M.
Autoantibodies to DNA mismatch repair enzymes in polymyositis/dermatomyositis and other autoimmune diseases: A possible marker of favorable prognosis.
Arthritis Rheumatol (2014).

 

Mizutani K, Taira M and Akiyama M.
Primary mucinous carcinoma of the skin on the breast with lymph node metastasis.
J Dermatol (2014) 41(8): 760-1.

 

Mizuno O, Yanagi T, Baba K, Yamane N, Inokuma D, Ito K, Akiyama M and Shimizu H.
Sweet's syndrome presenting with vegetative nodules on the hands: relationship to neutrophilic dermatosis of the dorsal hands.
Int J Dermatol (2014) 53(1): e46-8.

 

Makita S, Kono M, Yamada M, Suzuki N, Karasawa T, Tanahashi C and Akiyama M.
Spindle cell angiosarcoma almost exclusively made up of spindle cells.
Eur J Dermatol (2014) 24(1): 106-7.

 

Kono M, Suganuma M, Akiyama M, Ito Y, Ujiie H and Morimoto K.
Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families.
Int J Dermatol (2014) 53(3): e194-6.

 

Kaibuchi-Noda K, Sugiura K, Takeichi T, Miura S, Kagami S, Takama H, Hino H and Akiyama M.
Darier's Disease: A novel ATP2A2 Missense Mutation at One of the Calcium-binding Residues.
Acta Derm Venereol (2014).

 

Ito E, Muro Y, Shibata A, Sugiura K and Akiyama M.
Hydroxyurea-induced amyopathic dermatomyositis presenting with heliotrope erythema.
Dermatol Online J (2014) 20(8).

 

Himoto T, Tanaka N, Saito A, Muro Y, Sugiura K, Tani J, Miyoshi H, Morishita A, Yoneyama H, Haba R and Masaki T.
Diversity of humoral responses to the centromere proteins among HCV-related chronic liver disease, PBC and AIH patients.
Clin Res Hepatol Gastroenterol (2014).

 

Hane H, Yokota K, Kono M, Muro Y and Akiyama M.
Extraordinarily large, giant spider angioma in an alcoholic cirrhotic patient.
Int J Dermatol (2014) 53(2): e119-21.

 

Hane H, Muro Y, Watanabe K, Ogawa Y, Sugiura K and Akiyama M.
Establishment of an ELISA to detect anti-glycyl-tRNA synthetase antibody (anti-EJ), a serological marker of dermatomyositis/polymyositis and interstitial lung disease.
Clin Chim Acta (2014) 4319-14.

 

Campbell P, Morton PE, Takeichi T, Salam A, Roberts N, Proudfoot LE, Mellerio JE, Aminu K, Wellington C, Patil SN, Akiyama M, Liu L, McMillan JR, Aristodemou S, Ishida-Yamamoto A, Abdul-Wahab A, Petrof G, Fong K, Harnchoowong S, Stone KL, Harper JI, McLean WH, Simpson MA, Parsons M and McGrath JA.
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.
J Invest Dermatol (2014) 134(10): 2570-8.

 

<英文総説>
Akiyama M.
The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation.
Biochim Biophys Acta (2014) 1841(3): 435-40.

2013

<英文原著>
Sugiura K, Koga H, Ishikawa R, Matsumoto T, Matsubara M, Hagiwara R, Muro Y, Hashimoto T, Akiyama M.
Paraneoplastic pemphigus with anti-laminin-332 autoantibodies in a patient with follicular dendritic cell sarcoma.
JAMA Dermatol 149(1): 111-113, 2013.

 

Nomura Y, Nomura T, Sakai K, Sasaki K, Ohguchi Y, Mizuno O, Hata H, Aoyagi S, Abe R, Itaya Y, Akiyama M, Shimizu H.
A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa.
Br J Dermatol 168: 206-209, 2013.

 

Saito A, Muro Y, Sugiura K, Akiyama M.
Low prevalence of autoantibodies to CENP-H, -I, -K, -L, -M, -N, -T and -U in a Japanese cohort of anti-centromere positive samples.
Immunopharm Immunot 35(1): 57-63, 2013.

 

Muro Y, Sugiura K, Akiyama M.
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.
Clin Rheumatol 32(3): 395-398, 2013.

 

Takeichi T, Sugiura K, Matsuda K, Kono M, Akiyama M.
Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis.
J Dermatol Sci 69(3): 259-261, 2013.

 

Muro Y, Sugiura K, Nakashima R, Mimori T, Akiyama M.
Low prevalence of anti-DFS70/LEDGF antibodies in patients with dermatomyositis and other systemic autoimmune rheumatic diseases.
J Rheumatol 40(1): 92-93, 2013.

 

Sugiura K, Sugiura N, Yagi T, Iguchi M, Ohno H, Miyazaki Y, Akiyama M.
Cryptococcal cellulitis in a patient with bullous pemphigoid.
Acta Dermato-Venereol 93(2): 187-188, 2013.

 

Tanahashi K, Sugiura K, Takeichi T, Takama H, Shinkuma S, Shimizu H, Akiyama M.
Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.
J Eur Acad Dermatol Venereol 27(9): 1182-1184, 2013.

 

Mori M, Sugiura M, Kono M, Matsumoto T, Sawada M, Yokota K, Yasue S, Shibata S, Sakakibara A, Nakamura S, Tomita Y, Akiyama M.
Clinicopathologic analysis of 66 Japanese thin melanomas with metastasis of sentinel or regional lymph node.
J Cutan Pathol 40(12): 1027-1034, 2013.

 

Izumi K, Yanagi T, Akiyama M, Moriuchi R, Arita K, Shimizu H.
Intractable erythematous plaques on the hands: palmoplantar eosinophilic pustular folliculitis.
Int J Dermtol 52: 1274-1275, 2013.

 

Karasawa T, Matsumoto T, Akiyama M.
Metastatic skin lesions of multiple myeloma presenting as two extraordinarily large subcutaneous tumors.
Int J Dermatol 52: 1568-1570, 2013.

 

Kono M, Akiyama M, Suganuma M, Tomita Y, Sanchez-Valle A.
Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link?
Int J Dermatol 52(12): 1582-1584, 2013.

 

Takeichi T, Sugiura K, Arai H, Ishii K, Kono M, Akiyama M.
Sporadic VACTERL association in a Japanese family with Sjögren-Larsson syndrome.
Acta Dermato-Venereol 93(5): 579-580, 2013.

 

Matsumoto T, Yokota K, Sawada M, Sakakibara A, Shibata S, Yasue S, Tomita Y, Yatsuya H, Akiyama M.
Postoperative DAV-IFN-β therapy does not improve survival rates of stage II and stage III melanoma patients significantly.
J Eur Acad Dermatol Venereol 27: 1514-1520, 2013.

 

Muro Y, Sugiura K, Akiyama M.
Low prevalence of anti-small ubiquitin-like modifier activating enzyme antibodies in dermatomyositis patients.
Autoimmunity 46(4): 279-284, 2013.

 

Shibata A, Sugiura K, Kimura U, Takamori K, Akiyama M.
A novel ATP2C1 early truncation mutation suggests haploinsufficiency as a pathogenic mechanism in a patient with Hailey-Hailey disease.
Acta Dermato-Venereol 93(6): 719-720, 2013.

 

Shinkuma S, Nishie W, Jacyk WK, Natsuga K, Ujiie H, Nakamura H, Akiyama M, Shimizu H.
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.
Acta Dermato-Venereol 93: 585-587, 2013.

 

Shimizu Y, Sugiura K, Aoyama Y, Ogawa Y, Hitomi K, Iwatsuki K, Akiyama M.
Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma.
J Dermatol 40(7): 581-582, 2013.

 

Sugiura K, Teranishi M, Matsumoto Y, Akiyama M.
Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia.
JAMA Dermatol 149(11): 1350-1351, 2013.

 

Takama H, Sugiura K, Ogawa Y, Muro Y, Akiyama M.
Possible roles of barrier-to-autointegration factor 1 in regulation of keratinocyte differentiation and proliferation.
J Dermatol Sci 71(2): 100-106, 2013.

 

Sugiura K, Tanahashi K, Muro Y, Akiyama M.
Cutaneous lupus mucinosis successfully treated with systemic corticosteroid and systemic tacrolimus combination therapy.
J Am Acad Dermatol 69(4): e200-202, 2013.

 

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.
The majority of generalized pusular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.
J Invest Dermatol 133(11): 2514-2521, 2013.

 

Sassa T, Ohno Y, Suzuki S, Nomura T, Nishioka C, Kashiwagi T, Hirayama T, Akiyama M, Taguchi R, Shimizu H, Itohara S, Kihara A.
Impaired epidermal permeability barrier in mice lacking the Elovl1 gene responsible for very long-chain fatty acid production.
Mol Cell Biol 33: 2787-2796, 2013.

 

Kono M, Sugiura K, Suganuma M, Hayashi M, Takama H, Suzuki T, Matsunaga K, Tomita Y, Akiyama M.
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.
Hum Mol Genet 22(17): 3524-3533, 2013.

 

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.
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).
J Dermatol Sci 72: 54-60, 2013.

 

Kobayashi T, Yokota K, Sawada M, Matsumoto T, Akiyama M.
Benefit of skin ultrasound examination in determining the area of inguinal lymph node dissection.
J Dermatol 40(9): 765-766, 2013.

 

Sugiura K, Takeichi T, Tanahashi K, Ito Y, Kosho T, Saida K, Uhara H, Okuyama R, Akiyama M.
Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.
J Dermatol Sci 72(2): 193-195, 2013.

 

Sugiura K, Suga Y, Akiyama M.
Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe.
J Dermatol Sci 72(2): 197-199, 2013.

 

Sugiura K, Matsumoto T, Muro Y, Akiyama M.
Unilaterally dominant eosinophilic fasciitis after influenza vaccination.
J Am Acad Dermatol 69(5): e269-270, 2013.

 

Kobayashi T, Sugiura K, Takeichi T, Akiyama M.
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.
Br J Dermatol 169(4): 948-950, 2013.

 

Aiyama A, Muro Y, Sugiura K, Onouchi H, Akiyama M.
Extraordinarily long linear cutaneous lupus erythematosus along the lines of blaschko.
Dermatol Online J 19(7): 18960, 2013.

 

Sugiura K, Takeichi T, Akiyama M.
Alopecia totalis in monosomy 18p.
Eur J Dermatol 23(6): 899-900, 2013.

 

Kobayashi T, Muro Y, Sugiura K, Akiyama M.
Pulmonary mucosa-associated lymphoid tissue lymphoma in Sjögren’s syndrome without interstitial pneumonia.
Int J Rheum Dis 16(6): 780-782, 2013.

 

Watanabe K, Muro Y, Sugiura K, Akiyama M.
High-avidity IgG Autoantibodies against DFS70/LEDGF in Atopic Dermatitis.
J Clin Cell Immunol 4: 170, 2013.

 

Muro Y.
Comment on “Juvenile Dermatomyositis May Be Triggered by UV Exposure”
http://www.medscape.com/viewarticle/807438
Medscape, WebMD LLC, July 5, 2013

 

<英文著書>

Kono M, Akiyama M.
Dyschromatosis symmetrica hereditaria and RNA editing enzyme.
in the book "Current Genetics in Dermatology" edited by Naoki Oiso,
ISBN 978-953-51-0971-6, InTech, February 2, 2013. pp. 105-120.
total page 213.

 

<英文総説>

Muro Y, Sugiura K, Akiyama M.
Autoantibodies against MDA-5: very important serological markers in amyopathic dermatomyositis with rapidly progressive interstitial lung disease.
Clin Lab Int November 33-35, 2013.

 

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.
Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.
Exp Dermatol 22: 825-831, 2013.

 

Muro Y, Sugiura K, Akiyama M.
A new ELISA for dermatomyositis autoantibodies: rapid introduction of autoantigen cDNA to recombinant assays for autoantibody measurement.
Clin Dev Immunol 2013: 856815, 2013.

 

Muro Y, Sugiura K, Akiyama M.
What autoantibody tests should become widely available to help scleroderma diagnosis and management?
Arthritis Res Ther 15(4): 116, 2013.

 

Sugiura K.
Unfolded protein response in keratinocytes: Impact on normal and abnormal keratinization.
J Dermatol Sci 69(3): 181-186, 2013.

2012

<英文原著>

Muro Y, Sugiura K, Hoshino K, Akiyama M.
Disappearance of anti-MDA-5 autoantibodies in clinically amyopathic DM/interstitial lung disease during disease remission.
Rheumatology (Oxford) 51(5): 800-804, 2012.

 

Natsuga K, Shinkuma S, Kanda M, Suzuki Y, Chosa N, Narita Y, Setoyama M, Nishie W, Akiyama M, Shimizu H.
Possible modifier effects of keratin 17 gene mutation on keratitis-ichthyosis-deafness syndrome.
Br J Dermatol 166(4): 903-905, 2012.

 

Yasuda K, Sugiura K, Ishikawa R, Kihira M, Negishi Y, Iwayama H, Ito K, Kimura H, Kosugi I, Akiyama M.
Perinatal cytomegalovirus-associated bullae in an immunocompetent infant.
Arch Dermatol 148(6): 770-772, 2012.

 

Sasaki K, Akiyama M, Yanagi T, Sakai K, Miyamura Y, Sato M, Shimizu H.
CYP4F22 is highly expressed at the site and timing of onset of keratinization during skin development.
J Dermatol Sci 65(2): 156-158, 2012.

 

Sugiura K, Muro Y, Akiyama M.
Autoantibodies to nuclear matrix protein 2 /MJ in adult-onset dermatomyositis with severe calcinosis
J Am Acad Dermatol 67(4): e167-168, 2012.

 

Fukuda S, Hamada T, Ishii N, Sakaguchi S, Sakai K, Akiyama M, Shimizu H, Masuda K, Izu K, Teye K, Tsuruta D, Karashima T, Nakama T, Yasumoto S, Hashimoto T.
Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma.
Br J Dermatol 166 (1): 218-221, 2012.

 

Ishikawa A, Muro Y, Sugiura K, Akiyama M.
Development of an ELISA for detection of autoantibodies to nuclear matrix protein 2.
Rheumatology (Oxford) 51(7): 1181-1187, 2012.

 

Kono M, Akiyama M, Kondo T, Suzuki T, Suganuma M, Wataya-Kaneda M, Lam J, Shibaki A, Tomita Y.
Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria.
J Dermatol 39(9): 819-821, 2012.

 

Ishikawa A, Sugiura K, Sato A, Muro Y, Akiyama M.
Drug eruption due to sodium picosulfate.
Eur J Dermatol 22(3): 410-411, 2012.

 

Muro Y, Ishikawa A, Sugiura K, Akiyama M.
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.
Rheumatology (Oxford) 51(8): 1508-1513, 2012.

 

Sugiura K, Takeichi T, Kono M, Ogawa Y, Shimoyama Y, Muro Y, Akiyama M.
A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult-onset generalized pustular psoriasis.
Br J Dermatol 167(3): 699-701, 2012.

 

Shinkuma S, Inoue A, Aoki J, Nishie W, Natsuga K, Ujiie H, Nomura T, Abe R, Akiyama M, Shimizu H.
The 9 loop domain of PA-PLA1 has a crucial role in autosomal recessive woolly hair/hypotrichosis.
J Invest Dermatol 132(8): 2093-2095, 2012.

 

Yoshida Y, Sakakibara A, Watanabe T, Noto K, Sakita K, Sakai Y, Amemiya T, Akiyama M.
Extraordinarily large protruding accessory breast cancer in a man.
J Am Acad Dermatol 67(5): e230-231, 2012.

 

Kabashima-Kubo R, Nakamura M, Sakabe JI, Sugita K, Hino R, Mori T, Kobayashi M, Bito T, Kabashima K, Ogasawara K, Nomura Y, Nomura T, Akiyama M, Shimizu H, Tokura Y.
A group of atopic dermatitis without IgE elevation or barrier impairment shows a high Th1 frequency: Possible immunological state of the intrinsic type.
J Dermatol Sci 67(1): 37-43, 2012.

 

Hara M, Nishio N, Ito S, Akiyama M, Isobe K.
Up-regulation of Gr1+CD11b+ cell population in the spleen of NaClO-administered mice works to repair skin wounds.
BioDiscov 2: 1, 2012.

 

Sugiura K, Takeichi T, Kono M, Ito Y, Ogawa Y, Muro Y, Akiyama M.
Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1.
J Invest Dermatol 132(12): 2855-2857, 2012.

 

Omiya W, Ujiie H, Akiyama M, Izumi K, Shigematsu A, Onozawa M, Shimizu H.
Coexistence of pustular and vegetative pyoderma gangrenosum in a patient with myelodysplastic syndrome.
Eur J Dermatol 22(5): 711-712, 2012.

 

Umemoto H, Akiyama M, Domon T, Nomura T, Shinkuma S, Ito K, Asaka T, Sawamura D, Uitto J, Uo M, Kitagawa Y and Shimizu H.
Type VII collagen deficiency causes defective tooth enamel formation due to poor differentiation of ameloblasts.
Am J Pathol 181(5): 1659-1671, 2012.

 

Takama H, Sugiura K, Ohmiya N, Goto H, Akiyama M.
Angiokeratoma of the scrotum and sublingual varices in a patient with jejunal phlebectasia.
Eur J Dermatol 22(6): 818-819, 2012.

 

Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran BE, Wilson NJ, Smith FJD, Goh CSM, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro A, Konohana I, Shboul M, Teissier, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WHI.
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Nat Genet 44(11): 1272-1276, 2012.

 

Hasegawa M, Asano Y, Endo H, Fujimoto M, Goto D, Ihn H, Inoue K, Ishikawa O, Kawaguchi Y, Kuwana M, Muro Y, Ogawa F, Sasaki T, Takahashi H, Tanaka S, Takehara K, Sato S.
Investigation of prognostic factors for skin sclerosis and lung function in Japanese patients with early systemic sclerosis: a multicentre prospective observational study.
Rheumatology (Oxford) 51(1): 129-133, 2012

 

Kamei H, Isaji A, Noda Y, Ishikawa K, Senzaki K, Yamada K, Sugiura K, Tomita Y, Nabeshima T.
Effects of single therapeutic doses of promethazine, fexofenadine and olopatadine on psychomotor function and histamine-induced wheal- and flare-responses: a randomized double-blind, placebo-controlled study in healthy volunteers.
Arch Dermatol Res 304(4): 263-272, 2012

 

Kantaputra PN, Chinadet W, Ohazama A, Kono M.
Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: report of a novel ADAR1 mutation.
Am J Med Genet A 158A(9): 2258-2265, 2012.

 

Kono M, Kondo T, Ito S, Suzuki T, Wakamatsu K, Ito S, Tomita Y.
Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type.
Br J Dermatol 166(4): 896-898, 2012.

 

Mitsuma A, Sawaki M, Shibata T, Morita S, Inada M, Shimokata T, Sugishita M, Kitagawa K, Sawada M, Nawa A, Ando Y.
Extravasation of pegylated-liposomal doxorubicin:favorable outcome after immediate subcutaneous administration of corticosteroids,
Nagoya J Med Sci. 74(1-2): 189-192, 2012

 

<英文総説>

Ogawa Y, Hagiwara M.
Challenges to congenital genetic disorders with "RNA-targeting" chemical compounds.
Pharmacol Ther. 134(3): 298-305, 2012.

2011

<英文原著>

Lin H-Y, Yanagi T, Akiyama M, Iitani MM, Moriuchi R, Natsuga K, Shinkuma S, Yamane N, Inokuma D, Arita K, Shimizu H.
Childhood subepidermal blistering disease with autoantibodies against type VII collagen and laminin-332.
Br J Dermatol 164: 452-454, 2011.

 

Osawa R, Akiyama M, Izumi K, Ujiie H, Sakai K, Nemoto-Hasebe I, Yanagi T, Koizumi H, Shimizu H.
Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation.
J Am Acad Dermatol 64: 991-993, 2011.

 

Kusajima E, Akiyama M, Sato M, Natsuga K, Shimizu H.
Type XVII collagen ELISA indices significantly decreased after bullous pemphigoid remission.
Int J Dermatol 50: 238-240, 2011.

 

Natsuga K, Nishie W, Shinkuma S, Nakamura H, Arita K, Yoneda K, Kusaka T, Yanagihara T, Kosaki R, Sago H, Akiyama M, Shimizu H.
A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing.
Exp Dermatol 20: 74-76, 2011.

 

Umemoto H, Akiyama M, Yanagi T, Sakai K, Aoyama Y, Oizumi A, Suga Y, Kitagawa Y, Shimizu H.
New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis.
J Dermatol Sci 61: 136-138, 2011.

 

Nakamura H, Natsuga K, Nishie W, McMillan JR, Nakamura H, Sawamura D, Akiyama M, Shimizu H.
DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.
Int J Dermatol 50: 439-442, 2011.

 

Kikuchi K, Arita K, Tateishi Y, Onozawa M, Akiyama M, Shimizu H.
Recurrence of hydroxyurea-induced leg ulcer after discontinuation of treatment.
Acta Dermato-Venereol 91: 373-374, 2011.

 

Yanagi T, Akiyama M, Nishihara H, Miyamura Y, Sakai K, Tanaka S, Shimizu H.
AKT has an anti-apoptotic role in ABCA12-deficient keratinocytes.
J Invest Dermatol 131: 1942-1945, 2011.

 

Natsuga K, Nishie W, Smith BJ, Shinkuma S, Smith TA, Parry DAD, Oiso N, Kawada A, Yoneda K, Akiyama M, Shimizu H.
Consequences of two different amino acid substitutions at the same codon in KRT14 indicate definitive roles of structural distortion in epidermolysis bullosa simplex pathogenesis.
J Invest Dermatol 131: 1869-1876, 2011.

 

Nakajima K, Uchida Y, Akiyama M, Morita Y, Shimizu H, Sano S.
Altered lipid profiles in the stratum corneum of Sjögren-Larsson syndrome.
J Dermatol Sci 63: 64-66, 2011.

 

Furue M, Yamazaki S, Jimbow K, Tsuchida T, Amagai M, Tanaka T, Matsunaga K, Muto M, Morita E, Akiyama M, Soma Y, Terui T, Manabe M.
Prevalence of dermatological disorders in Japan: A nationwide, cross-sectional, seasonal, multicenter, hospital-based study.
J Dermatol 38: 353-363, 2011.

 

Suga H, Tsunemi Y, Sugaya M, Shinkuma S, Akiyama M, Shimizu H, Sato S.
Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias.
Acta Dermato-Venereol 91: 486-488, 2011.

 

Takeichi T, Sugiura K, Muro Y, Ogawa Y, Akiyama M.
LEDGF/DFS70 activates the MK2/IL6/STAT3 pathway in HaCaT.
J Dermatol Sci 63(3): 203-205, 2011.

 

Li Q, Frank M, Akiyama M, Shimizu H, Ho S-Y, Thisse C, Thisse B, Sprecher E, Uitto J.
Abca12-mediated lipid transport and snap29-dependent trafficking of lamellar granules are critical for epidermal morphogenesis in zebrafish disease model of ichthyosis.
Dis Model Mech 4: 777-785, 2011.

 

Kaibuchi-Noda K, Yokota K, Matsumoto T, Sawada M, Sakakibara A, Kono M, Tomita Y, Watanabe D, Fukumoto H, Katano H, Akiyama M.
Detection of Merkel cell polyomavirus in cutaneous squamous cell carcinoma before occurrence of Merkel cell carcinoma.
J Am Acad Dermatol 65(5): e152-154, 2011.

 

Muro Y, Sugiura K, Hoshino K, Akiyama M, Tamakoshi K.
Epidemiologic study of clinically amyopathic dermatomyositis and anti-melanoma differentiation-associated gene 5 antibodies in central Japan.
Arthritis Res Ther 13(6): R214, 2011.

 

Hamaguchi Y, Kuwana M, Hoshino K, Hasegawa M, Kaji K, Matsushita T, Komura K, Nakamura M, Kodera M, Suga N, Higashi A, Ogusu K, Tsutsui K, Furusaki A, Tanabe H, Sasaoka S, Muro Y, Yoshikawa M, Ishiguro N, Ayano M, Muroi E, Fujikawa K, Umeda Y, Kawase M, Mabuchi E, Asano Y, Sodemoto K, Seishima M, Yamada H, Sato S, Takehara K, Fujimoto M.
Clinical correlations with dermatomyositis-specific autoantibodies in adult Japanese patients with dermatomyositis: a multicenter cross-sectional study.
Arch Dermatol 147: 391-398, 2011.

 

Watanabe K, Muro Y, Sugiura K, Tomita Y.
IgE and IgG4 autoantibodies against DFS70/LEDGF in atopic dermatitis.
Autoimmunity 44: 511-519, 2011.

 

Hibino M, Sugiura K, Muro Y, Shimoyama Y, Tomita Y.
Cyclosporin A induces the unfolded protein response in keratinocytes.
Arch Dermatol Res 303: 481-489, 2011.

 

Debdab M, Carreaux F, Renault S, Soundararajan M, Fedorov O, Filippakopoulos P, Lozach O, Babault L, Tahtouh T, Baratte B, Ogawa Y, Hagiwara M, Eisenreich A, Rauch U, Knapp S, Meijer L, Bazureau JP.
Leucettines, a class of potent inhibitors of cdc2-like kinases and dual specificity, tyrosine phosphorylation regulated kinases derived from the marine sponge leucettamine B: modulation of alternative pre-RNA splicing.
J Med Chem 54(12): 4172-4186, 2011.

 

<英文総説>

Osawa R, Akiyama M, Shimizu H.
Filaggrin gene defects and the risk of developing allergic disorders.
Allergol Int 60: 1-9, 2011.

 

Akiyama M.
The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis.
Dermato-Endocrinology 3: 107-112, 2011.

 

Akiyama M.
Updated molecular genetics and pathogenesis of ichthyoses.
Nagoya J Med Sci 73: 79-90, 2011.

 

Natsuga K, Akiyama M, Shimizu H.
Malignant skin tumours in patients with inherited ichthyosis.
Br J Dermatol 165: 263-268, 2011.

2010

<英文原著>

Futamura K, Orihara K, Hashimoto N, Morita H, Fukuda S, Sagara H, Matsumoto K, Tomita Y, Saito H, Matsuda A.
β2- Adrenoceptor agonists enhance cytokine-induced release of thymic stromal lymphopoietin by lung tissue cells.
Int Arch Allergy Immunol 152(4): 353-361, 2010.

 

Sakakibara A, Kamijima M, Shibata S, Yasue S, Kono M, Tomita Y.
Dermoscopic evaluation of vascular structures of various skin tumors in Japanese patients.
J Dermatol 37(4): 316-322, 2010.

 

Matsumoto T, Shibata S, Yasue S, Sakakibara A, Yokota K, Sawada M, Kono M, Kato K, Shimoyama Y, Tomita Y.
Interval sentinel lymph nodes in patients with cutaneous melanoma: A single-institution study in Japan.
J Dermatol 37(7): 629-634,2010

 

Takahashi Y, Endo Y, Sugiyama Y, Inoue S, Iijima M, Tomita Y, Kuru S, Takigawa M, Moriwaki S.
XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms.
J Invest Dermatol 130(10): 2481-2488, 2010.

 

Takeichi T, Sugiura K, Muro Y, Matsumoto K, Ogawa Y, Futamura K, Kaminuma O, Hashimoto N, Shimoyama Y, Saito H, Tomita Y.
Overexpression of LEDGF/DFS70 induces IL-6 via p38 activation in HaCaT cells, similar to that seen in the psoriatic condition.
J Invest Dermatol 130(12): 2760-2767, 2010

 

Murata I, Hayashi M, Hozumi Y, Fujii K, Kuroki N, Mitsuhashi Y, Oiso N, Fukai K, Mori Y, Utani A, Tomita Y, Fujita Y, Suzuki T.
Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Five novel mutations of the ADAR1 gene.
J Dermatol Sci 58(3):218-220, 2010.

 

Hoshino K, Muro Y, Sugiura K, Tomita Y, Nakashima R, Mimori T.
Anti-MDA5 and anti-TIF1-γ antibodies have clinical significance for patients with dermatomyositis.
Rheumatology (Oxford) 49(9): 1726-1733, 2010

 

Yamaki M, Sugiura K, Muro Y, Shimoyama Y, Tomita Y.
Epidermal growth factor receptor tyrosine kinase inhibitors induce CCL2 and CCL5 via reduction in IL-1R2 in keratinocytes.
Exp Dermatol 19(8): 730-735, 2010

 

Ujiie H, Kodama K, Akiyama M, Shimizu H.
Hereditary benign telangiectasia: two families with punctate telangiectasias surrounded by anemic halos.
Arch Dermatol 146: 98-99, 2010.

 

Tsuruta D, Akiyama M, Ishida-Yamamoto A, Imanishi H, Mizuno N, Sowa J, Kobayashi H, Ishii M, Kurokawa I, Shimizu H.
Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease.
Br J Dermatol 162: 687-689, 2010.

 

Ujihara M, Nakajima K, Yamamoto M, Teraishi M, Uchida Y, Akiyama M, Shimizu H, Sano S.
Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome.
J Dermatol Sci 57: 102-107, 2010.

 

Natsuga K, Sawamura D, Goto M, Homma E, Goto-Ohguchi Y, Aoyagi S, Akiyama M, Kuroyanagi Y, Shimizu H.
Response of intractable skin ulcers in recessive dystrophic epidermolysis bullosa patients to an allogeneic cultured dermal substitute.
Acta Derm Venereol 90: 165-169, 2010.

 

Ujiie H, Shibaki A, Akiyama M, Shimizu H
Successful treatment of nail lichen planus with topical tacrolimus.
Acta Derm Venereol 90: 218-219, 2010.

 

Akiyama M, Sakai K, Yanagi T, Fukushima S, Ihn H, Hitomi K, Shimizu H.
Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis.
Am J Pathol 176: 1592-1599, 2010.

 

Sakai K, Akiyama M, Yanagi T, Nampoothiri S, Mampilly T, Sunitha V, Shimizu H.
An Indian family with Sjogren-Larsson syndrome caused by a novel ALDH3A2 mutation.
Int J Dermatol 49: 1031-1033, 2010.

 

Natsuga K, Nishie W, Akiyama M, Nakamura H, Shinkuma S, McMillan JR, Nagasaki A, Has C, Ouchi T, Ishiko A, Hirako Y, Owaribe K, Sawamura D, Bruckner-Tuderman L, Shimizu H.
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.
Hum Mutat 31: 308-316, 2010.

 

Ujiie H, Shibaki A, Nishie W, Sawamura D, Wang G, Tateishi Y, Li Q, Moriuchi R, Qiao H, Nakamura H, Akiyama M, Shimizu H.
A novel active mouse model for bullous pemphigoid targeting humanized pathogenic antigen.
J Immunol 184: 2166-2174, 2010.

 

Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, Digiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taieb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H.
Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009.
J Am Acad Dermatol 63: 607-641, 2010.

 

Akiyama M, Sakai K, Yanagi T, Tabata N, Yamada M, Shimizu H.
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.
Br J Dermatol 163: 201-204, 2010.

 

Shinkuma S, Akiyama M, Inoue A, Aoki J, Natsuga K, Nomura T, Arita K, Abe R, Ito K, Nakamura H, Ujiie H, Shibaki A, Suga H, Tsunemi Y,
Nishie W, Shimizu H.
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.
Hum Mutat 31: 602-610, 2010.

 

Yanagi T, Akiyama M, Nishihara H, Ishikawa J, Sakai K, Miyamura Y, Naoe A, Kitahara T, Tanaka S, Shimizu H.
Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice.
Am J Pathol 177: 106-118, 2010.

 

Uchida Y, Cho Y, Moradian S, Kim J, Nakajima K, Crumrine D, Park K, Ujihara M, Akiyama M, Shimizu H, Holleran WM, Sano S, Elias PM.
Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome.
J Invest Dermatol 130: 2497-2499, 2010.

 

Natsuga K, Nishie W, Arita K, Shinkuma S, Nakamura H, Kubota S, Imakado S, Akiyama M, Shimizu H.
Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia.
J Invest Dermatol 130: 2671-2674, 2010.

 

Osawa R, Konno S, Akiyama M, Nemoto-Hasebe I, Nomura T, Nomura Y, Abe R, Sandilands A, McLean WH, Hizawa N, Nishimura M, Shimizu H.
Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma.
J Invest Dermatol 130: 2834-2836, 2010.

 

Nomura Y, Akiyama M, Nomura T, Nemoto-Hasebe I, Abe R, McLean WH, Shimizu H.
Chromosome 11q13.5 variant: No association with atopic eczema in the Japanese population.
J Dermatol Sci 59: 210-212, 2010.

 

Fujita Y, Abe R, Inokuma D, Sasaki M, Hoshina D, Natsuga K, Nishie W, McMillan JR, Nakamura H, Shimizu T, Akiyama M, Sawamura D, Shimizu H.
Bone marrow transplantation restores epidermal basement membrane protein expression and rescues epidermolysis bullosa model mice.
Proc Natl Acad Sci U S A 107: 14345-14350, 2010.

 

Yamane A, Fukui M, Sugimura Y, Itoh M, Alea MP, Thomas V, El Alaoui S, Akiyama M, Hitomi K.
Identification of a preferred substrate peptide for transglutaminase 3 and detection of in situ activity in skin and hair follicles.
FEBS J 277: 3564-3574, 2010.

 

Mitsutake S, Suzuki C, Akiyama M, Tsuji K, Yanagi T, Shimizu H,
Igarashi Y.
ABCA12 dysfunction causes a disorder in glucosylceramide accumulation during keratinocyte differentiation.
J Dermatol Sci 60: 128-129, 2010.

 

Saito N, Yanagi T, Akiyama M, Lin HY, Kasai S, Fujita Y, Yamane N, Inokuma D, Kase S, Ono K, Minakawa H, Shimizu H.
Pyoderma Gangrenosum of the Eyelid: Report of Two Cases and Review of the Literature.
Dermatology 221: 211-215, 2010.

 

Ogawa Y, Nonaka Y, Goto T, Ohnishi E, Hiramatsu T, Kii I, Yoshida M, Ikura T, Onogi H, Shibuya H, Hosoya T, Ito N, Hagiwara M.
Development of a novel selective inhibitor of the Down syndrome-related kinase Dyrk1A.
Nature Communications 1(7): 86, 2010

 

Matsushima H, Ogawa Y, Miyazaki T, Tanaka H, Nishibu A, Takashima A.
Intravital imaging of IL-1β production in skin.
J Invest Dermatol 130(6): 1571-1580, 2010

 

<英文総説>

Akiyama M.
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.
Hum Mutat 31: 1090-1096, 2010.

 

Akiyama M.
FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics.
Br J Dermatol 162: 472-477, 2010.

 

Hsu C-K, Akiyama M, Shimizu H.
Update on filaggrin mutations and atopic dermatitis.
Expert Rev Dermatol 5: 315-323, 2010.

2009

<英文原著>

Hagiwara M, Takata K, Shimoyama Y, Yamamoto K, Takahashi E, Asano N, Iwase Y, Okazaki Y, Tamada Y, Yoshino T, Tomita Y, Nakamura S.
Primary cutaneous T-cell lymphoma of unspecified type with cytotoxic phenotype: clinicopathological analysis of 27 patients.
Cancer Sci 100(1): 33-41, 2009.

 

Iwata Y, Yoshizaki A, Komura K, Shimizu K, Ogawa F, Hara T, Muroi E, Bae S, Takenaka M, Yukami T, Hasegawa M, Fujimoto M, Tomita Y, Tedder TF, Sato S.
CD19, a response regulator of B lymphocytes, regulates wound healing through hyaluronan-induced TLR4 signaling.
Am J Pathol 175(2): 649-660, 2009.

 

Iwayama-Hibino M, Sugiura K, Muro Y, Tomita Y.
Successful topical hemotherapy with a new occlusive dressing for an intractable ulcer on the toe.
J Dermatol 36(4): 245-248, 2009.

 

Konno T, Abe Y, Kawaguchi M, Storm K, Biervliet M, Courtens W, Kono M, Tomita Y, Suzuki T.
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2.
Am J Med Genet A 149A(8): 1773-1776, 2009.

 

Murata I, Hozumi Y, Kawaguchi M, Katagiri Y, Yasumoto S, Kubo Y, Fujimoto W, Horikawa T, Kondo T, Kono M, Tomita Y, Suzuki T.
Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria.
J Dermatol Sci 53(1): 76-77, 2009.

 

Muro Y, Sugiura K, Morita Y, Tomita Y.
An evaluation of the efficacy of the toe brachial index measuring vascular involvement in systemic sclerosis and other connective tissue diseases.
Clin Exp Rheumatol 27(3 Suppl 54): S26-S31, 2009.

 

Muro Y, Sugiura M, Morita Y, Tomita Y.
Evaluation of anti-ribosomal P protein immunoassay in Japanese patients with connective tissue diseases: comparison with an indirect immunofluorescence assay.
Scand J Rheumatol 38(6): 460-463, 2009.

 

Muro Y, Sugiura K, Nitta Y, Mitsuma T, Hoshino K, Usuda T, Hayashi K, Murase Y, Shimizu M, Matsuo H.
Scoring of reflux symptoms associated with scleroderma and the usefulness of rabeprazole.
Clin Exp Rheumatol 27(3 Suppl 54): S15-S21, 2009.

 

Saito A, Muro Y, Sugiura K, Ikeno M, Yoda K, Tomita Y.
CENP-O, a protein localized at the centromere throughout the cell cycle, is a novel target antigen in systemic sclerosis.
J Rheumatol 36(4): 781-786, 2009.

 

Song HZ, Kono M, Tomita Y.
Establishment of a screening system for chemicals that upregulate a melanoma antigen, Melan-A/MART-1.
Tohoku J Exp Med 217(3): 231-237, 2009.

 

Sugiura K, Muro Y, Futamura K, Matsumoto K, Hashimoto N, Nishizawa Y, Nagasaka T, Saito H, Tomita Y, Usukura J.
The unfolded protein response is activated in differentiating epidermal keratinocytes.
J Invest Dermatol 129(9): 2126-2135, 2009.

 

Satoh T, Ishikawa O, Ihn H, Endo H, Kawaguchi K, Sasaki , Goto D, Takahashi K, Takahashi H, Misaki Y, Mimori T, Muro Y, Yazawa N, Sato S, Takehara K, Kuwana M.
Clinical usefulness of anti-RNA polymerase III antibody measurement by enzyme-linked immunosorbent assay.
Rheumatology (Oxford) 48:1570-1574. 2009