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英文論文業績 秋山 真志 （１）英文論文（＊は corresponding author） 1. 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 (in press) 2. 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 (in press) 3. Osawa R, Konno S, Akiyama M＊, Nemoto-Hasebe I, Nomura T, Nomura Y, Abe R, Sandilands A, McLean WHI, Hizawa N, Nishimura M, Shimizu H: Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma. J Invest Dermatol (in press) 4. Nomura Y, Akiyama M＊, Nomura T, Nemoto-Hasebe I, Abe R, McLean WHI, Shimizu H. Chromosome 11q13.5 variant: No association with atopic eczema in the Japanese population. J Dermatol Sci (in press) 5. Fujita Y, Abe R, Inokuma D, Sasaki M, Hoshina D, Natsuga K, Nishie W, McMillan JA, 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 USA (in press) 6. Sakai K, Akiyama M＊, Yanagi T, Nampoothiri S, Mampilly T, V S, Shimizu H. An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation. Int J Dermatol (in press) 7. Osawa R, Akiyama M, Izumi K, Ujiie H, Sakai K, Nemoto-Hasebe I, Yanagi T, Koizumi H, Shimizu H.

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Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation. J Am Acad Dermatol (in press) 8. Kusajima E, Akiyama M＊, Sato M, Natsuga K, Shimizu H. Type XVII collagen ELISA indices significantly decreased after bullous pemphigoid remission. Int J Dermatol (in press) 9. 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 (in press) 10. 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 (in press) 11. Saito N, Yanagi T, Akiyama M, Lin K, 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 (in press) 12. Oji V, Tadini G, Akiyama M, Blanchet-Bardon C, Bodemer C, Bourrat E, Coudiere P; DiGiovanna JJ, Elias P, Fischer J, Fleckmann 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 Sorèze 2009. J Am Acad Dermatol (in press) 13. 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.

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Am J Pathol 176: 1592-1599, 2010. 14. 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-PLA1α in Autosomal Recessive Hypotrichosis. Hum Mutation 31: 602-610, 2010. 15. Tsuruta D, Akiyama M＊ (co-first author), 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’s disease Br J Dermatol 162: 687-689, 2010. 16. 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. 17. 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 Mut 31: 308-316, 2010. 18. 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. 19. 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. 20. Natsuga K, Sawamura D, Goto M, Homma E, Goto-Ohguchi Y, Aoyagi S, Akiyama M, Kuroyanagi Y, Shimizu H.

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Response of intractable skin ulcers in recessive dystrophic epidermolysis bullosa patients to an allogeneic cultured dermal substitute. Acta Dermato-Venereol 90: 165-169, 2010. 21. Ujiie H, Shibaki A, Akiyama M, Shimizu H. Successful treatment of nail lichen planus with topical tacrolimus. Acta Dermato-Venereol 90: 218-219, 2010. 22. Ito K, Sawamura D, Goto M, Nakamura H, Nishie W, Sakai K, Natsuga K, Shinkuma S, Shibaki A, Uitto J, Denton CP, Nakajima O, Akiyama M, Shimizu H. Keratinocyte-/fibroblast-targeted rescue of Col7a1 disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation. Am J Pathol 175: 2508-2517, 2009. 23. Hamasaka E, Akiyama M＊, Hata H, Aoyagi S, Shimizu H. Melanonychia caused by Stenotrophomonas maltophilia. Clin Exp Dermatol 34: 242-243, 2009. 24. Uematsu R, Shinohara Y, Nakagawa H, Kurogochi M, Furukawa J, Miura Y, Akiyama M, Shimizu H, Nishimura S. Glycosylation specific for adhesion molecules in epidermis and its receptor revealed by glycoform-focused reverse genomics. Mol Cell Proteomics 8: 232-244, 2009. 25. Asaka T, Akiyama M＊, Domon T, Nishie W, Natsuga K, Fujita Y, Abe R, Kitagawa Y, Shimizu H. Type XVII collagen is a key player in tooth enamel formation. Am J Pathol 174: 91-100, 2009. 26. Kanda M, Natsuga K, Nishie W, Akiyama M, Nagasaki A, Shimizu T, Shimizu H. Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harboring a KRT17 missense mutation. Br J Dermatol 160: 465-468, 2009. 27. Suzuki K, Yamaguchi Y, Villacorte M, Mihara K, Akiyama M, Shimizu H, Taketo MM, Nakagata N, Tsukiyama T, Yamaguchi TP, Birchmeier W, Kato S, Yamada G. Embryonic hair follicle fate change by augmented β-catenin through Shh and Bmp

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signaling. Development 136: 367-372, 2009. 28. Shinkuma S, Akiyama M, Torii-Saito N, Natsuga K, Tateishi Y, Ito K, Hirota J, Shimizu Y, Shichinohe T, Shimizu H. Pemphigus foliaceus associated with esophageal cancer. J Eur Acad Dermatol Venereol 23: 473-474, 2009. 29. Nemoto-Hasebe I, Akiyama M＊, Nomura T, Sandilands A, McLean WHI, Shimizu H. Clinical severity correlates with impaired barrier in filaggrin-related eczema. J Invest Dermatol 129: 682-689, 2009. 30. Nomura T, Akiyama M＊, Sandilands A, Nemoto-Hasebe I, Sakai K, Nagasaki A, Palmer CNA, Smith FJD, McLean WHI, Shimizu H. Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Invest Dermatol 129: 1302-1305, 2009. 31. Goto-Ohguchi Y, Nishie W, Akiyama M, Tateishi Y, Aoyagi S, Tsuji-Abe Y, Sawamura D, Ishii N, Hashimoto T, Shimizu H. A severe and refractory case of anti-p200 pemphigoid resulting in multiple skin ulcers and scar formation. Dermatology 218: 265-271, 2009. 32. Hsu C-K, Akiyama M＊, Nemoto-Hasebe I, Nomura T, Sandilands A, Chao S-C, Lee JY-Y, Sheu H-M, McLean WHI, Shimizu H.

Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations. Br J Dermatol 161: 448-451, 2009. 33. Akiyama M＊, Sakai K, Hayasaka K, Tabata N, Yamada M, Ujiie H, Shibaki A, Shimizu H. Conradi-Hünermann-Happle syndrome with abnormal lamellar granule contents. Br J Dermatol 160: 1335-1337, 2009.

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34. Qiao H, Shibaki A, Long HA, Wang G, Li Q, Nishie W, Abe R, Akiyama M, Shimizu H, McMillan JR. Collagen XVII participates in keratinocyte adhesion to collagen IV, and in p38-MAPK-dependent migration and cell signaling. J Invest Dermatol 129: 2288-2295, 2009 35. Sakai K, Akiyama M＊, Yanagi T, McMillan JR, Suzuki T, Tsukamoto K, Sugiyama H, Hatano Y, Hayashitani M, Takamori K, Nakashima Keiko, Shimizu H. ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. J Invest Dermatol 129; 2306–2309, 2009 36. Nemoto-Hasebe I, Akiyama M, Kudo S, Ishiko A, Tanaka A, Arita K, Shimizu H. Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss. B J Dermatol 161: 452-455, 2009. 37. Ujiie H, Akiyama M, Osawa R, Shida S, Aoyagi S, Shimizu H. Bloody nipple discharge in an infant. Arch Dermatol 145:1068-1069, 2009. 38. Arita K, Abe R, Baba K, McGrath JA, Akiyama M, Shimizu H. A novel OSMR mutation in familial primary localized cutaneous amyloidosis in a Japanese family. J Dermatol Sci 55: 64-65, 2009. 39. Asaka T, Akiyama M＊, Kitagawa Y, Shimizu H. Higher density of label retaining cells in gingival epithelium. J Dermatol Sci 55: 132-134, 2009. 40. Nomura Y, Akiyama M, Nishie W, Shimizu H. Progressive refractory ulcer of the nipple: A Quiz. Acta Dermato-Venereol 89: 445-447, 2009. 41. Jiang YJ, Uchida Y, Lu B, Kim P, Mao C, Akiyama M, Elias PM, Holleran WM, Grunfeld C, Feingold KR.

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Ceramide stimulates ABCA12 expression via peroxisome proliferators-activated receptor δ in human keratinocytes. J Biol Chem 284: 18942-18952, 2009. 42. Osawa R, Akiyama M, Yamanaka Y, Ujiie H, Nemoto-Hasebe I, Takeda A, Yanagi T, Shimizu H. A novel PTPN11 missense mutation in a patient with LEOPARD syndrome. Br J Dermatol 161: 1202-1204, 2009. 43. Nemoto-Hasebe I, Akiyama M＊, Nomura T, Sandilands A, McLean WHI, Shimizu H. FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema. Br J Dermatol 161: 1387-1390, 2009. 44. Yanagi T, Akiyama M (co-first author), Nishihara H, Sakai K, Nishie W, Tanaka S, Shimizu H. Harlequin ichthyosis model mouse reveals alveolar collapse and fetal skin barrier defects. Hum Mol Genet 17: 3075-3083, 2008. 45. Akiyama M＊, Sakai K, Takayama C, Yanagi T, Yamanaka Y, McMillan JR, Shimizu H. CGI-58 is an alpha/beta hydrolase within lipid transporting lamellar granules of differentiated keratinocytes. Am J Pathol 173:1349-60, 2008. 46. Tsubota A, Akiyama M＊, Sakai K, Yanagi T, McMillan JR, Higashi A, Shimiz H. Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens. Br J Dermatol 158: 191-4, 2008. 47. Aoyagi S, Akiyama M, Mashiko M, Shibaki A, Shimizu H. Extensive proliferative nodules in a case of giant congenital naevus. Clin Exp Dermatol 33: 125-7, 2008.

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48. Arita K, South AP, Hans-Filho G, Sakuma TH, Lai-Cheong J, Clements S, Odashiro M, Odashiro DN, Hans-Neto G, Hans NR, Holder M, Bhogal BS, Hartshorne ST, Akiyama M, Shimizu H, McGrath JA. Oncostatin M receptor mutations underlie familial skin itching (primary localized cutaneous amyloidosis). Am J Hum Genet 82: 73-80, 2008. 49. Arita K, Nanda A, Wessagowit V, Akiyama M, McGrath J. A novel mutation in the VDR gene in hereditary vitamin D resistant rickets. Br J Dermatol 158: 168-171, 2008. 50. Moriuchi R, Akiyama M＊, Onozuka T, Shimizu H. A novel ATP2A2 missense mutation p.Asp254Gly in Darier’s disease restricted to the extremities. J Am Acad Dermatol 58: S116-S118, 2008. 51. Nomura T, Akiyama M, Sandilands A, Nemoto-Hasebe I, Sakai K, Nagasaki A, Ota M, Hata H, Evans AT, Palmer CAN, Shimizu H, McLean WHI. Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. J Invest Dermatol 128:1436-1441, 2008. 52. Akiyama M＊, Sakai K, Hatamochi A, Yamazaki S, McMillan JR, Shimizu H. Novel compound heterozygous nonsense and missense ABCA12 mutations lead to non-bullous congenital ichthyosiform erythroderma. Br J Dermatol 158: 864-867, 2008. 53. Aoyagi S, Akiyama M, Shimizu H. High expression of Ki-67 and Cyclin D1 in invasive extramammary Paget’s disease. J Dermatol Sci 50: 177-184, 2008. 54. Tsubota A, Akiyama M＊, Kanitakis J, Sakai K, Nomura T, Claudy A, Shimizu H. Mild recessive bullous congenital ichthyosiform erythroderma due to a novel homozygous keratin 10 nonsense mutation. J Invest Dermatol 128: 1648-1652, 2008.

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55. Yanagi T, Akiyama M, Sakai K, Nagasaki A, Ozawa N, Kosaki R, Sago H, Shimizu H. DNA-based prenatal exclusion of harlequin ichthyosis. J Am Acad Dermatol 58: 653-656, 2008. 56. Nemoto-Hasebe I, Akiyama M, Osawa R, Nakamura H, Shimizu H.

Diagnosis of Hailey-Hailey disease facilitated by DNA testing – a novel mutation in ATP2C1. Acta Dermato-Venereol 88: 399-400, 2008. 57. Nemoto-Hasebe I, Akiyama M, Yanada N, Inoue Y, Chizu T, Shimizu H.

Keratitis-Ichthyosis-Deafness syndrome lacking subjective hearing impairment. Acta Dermato-Venereol 88: 406-408, 2008. 58. Shinkuma S, Natsuga K, Akiyama M, Saito A, Saito W, Ota S, Kondo T, Abe R, Kodama K, Shimizu H. Precursor B-cell lymphoblastic lymphoma presented with intraocular involvement and unusual skin manifestations. Ann Hematol 87: 677-679, 2008. 59. McMillan JR, Akiyama M, Rouan F, Mellerio JE, Lane EB, Leigh IM, Owaribe K, Wiche G, Fujii N, Uitto J, Eady RAJ, Shimizu H. Plectin defects in epidermolysis bullosa simplex with muscular dystrophy. Muscle Nerve 35: 24-35, 2007. 60. Hoshina D, Akiyama M＊, Hata H, Aoyagi S, Sato-Matsumura KC, Shimizu H. Eccrine porocarcinoma and Bowen’s disease arising in a seborrheic keratosis. Clin Exp Dermatol 32: 54-56, 2007. 61. Ito H, Akiyama M＊, Nakagawa H, Uematsu R, Deguchi K, McMillan JR, Nishimura S-I, Shimizu H. N-linked neutral oligosaccharides in the stratum corneum of normal and ichthyotic skin. Arch Dermatol Res 298: 403-407, 2007. 62. Arita K, Jacyk WK, Wessagowit V, van Rensburg EJ, Chaplin T, Mein CA, Akiyama M, Shimizu H, Happle R, McGrath JA.

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The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. J Invest Dermatol 127: 490-493, 2007. 63. Akiyama M＊, Titeux M, Sakai K, McMillan JR, Tonasso L, Calvas P, Jossic F, Hovnanian A, Shimizu H. DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences. J Invest Dermatol 127: 568-573, 2007. 64. Nishie W, Sawamura D, Goto M, Ito K, Shibaki A, McMillan J, Sakai K, Nakamura H, Olasz E, Yancey K, Akiyama M, Shimizu H. Humanization of autoantigen. Nat Med 13: 378-383, 2007. 65. Sawamura D, Goto M, Sakai K, Nakamura H, McMillan JR, Akiyama M, Oyama N, Satoh M, Kaneko F, Takahashi T, Konno H, Shimizu H. Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1. J Invest Dermatol 127: 1537-40, 2007. 66. McMillan JR, Akiyama M, Tanaka M, Yamamoto S, Goto M, Abe R, Sawamura D, Shimomura M, Shimizu H. Small-diameter porous poly (∑-calprolactone) films enhance adhesion and growth of human cultured epidermal keratinocyte and dermal fibroblast cells. Tissue Eng 13: 789-798, 2007. 67. Akiyama M＊, Sakai K, Arita K, Nomura Y, Ito K, Kodama K, McMillan JR, Kobayashi K, Sawamura D, Shimizu H. A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma and sensorineural hearing loss showing knuckle pads. J Invest Dermatol 127: 1540-3, 2007. 68. Tsubota A, Akiyama M＊, Sakai K, Goto M, Nomura Y, Ando S, Abe M, Sawamura D, Shimizu H. Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis.

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J Invest Dermatol 127: 1371-4, 2007. 69. Nomura T, Sandilands A, Akiyama M, Sakai K, Ota M, Sugiura H, Yamamoto K, Sato H, Smith FJD, McLean WHI, Shimizu H. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol 119: 434-440, 2007. 70. Hoshina D, Akiyama M, Hamasaka K, Shimizu H. An infantile case of pityriasis lichenoides et varioliformis acuta. Br J Dermatol 157: 194-6, 2007. 71. Akiyama M＊, Sakai K, Sato T, McMillan JR, Goto M, Sawamura D, Shimizu H. Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis. Dermatology 215: 155-9, 2007. 72. Natsuga K, Akiyama M＊, Kato N, Sakai K, Sugiyama-Nakagiri Y, Nishimura M, Hata H, Abe M, Arita K, Tsuji-Abe Y, Onozuka T, Aoyagi S, Kodama K, Ujiie H, Tomita Y, Shimizu H. Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. J Invest Dermatol 127: 2669-73, 2007. 73. Yamanaka Y, Akiyama M＊, Sugiyama-Nakagiri Y, Sakai K, Goto M, McMillan JR, Ota M, Sawamura D, Shimizu H. Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis. Am J Pathol 171: 43-52, 2007. 74. Motoda N, Akiyama M＊, Aoyagi S, Sawamura D, Shimizu H. Low-grade myxofibrosarcoma invaded into the underlying skeletal muscle. J Dermatol 34: 561-4, 2007. 75. Olasz EB, Roh J, Yee CL, Arita K, Akiyama M, Shimizu H, Vogel JC, Yancey KB. Human bullous pemphigoid antigen 2 transgenic skin elicits specific IgG in wild-type

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mice. J Invest Dermatol 127: 2807-17, 2007. 76. Akiyama M＊, Sakai K, Ogawa M, McMillan JR, Sawamura D, Shimizu H. Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. Muscle Nerve 36: 856-9, 2007. 77. Sakai K, Akiyama M＊, Sugiyama-Nakagiri Y, McMillan JR, Sawamura D, Shimizu H. Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes. Exp Dermatol 16: 920-6, 2007. 78. Mashiko M, Akiyama M＊, Tsuji-Abe Y, Shimizu H. Bacterial infection-induced generalized Hailey-Hailey disease successfully treated by etretinate. Clin Exp Dermatol 31: 57-59, 2006. 79. McMillan JR, Akiyama M, Nakamura H, Shimizu H. Colocalization of multiple laminin isoforms predominantly beneath hemidesmosomes in the upper lamina densa of the epidermal basement membrane. J Histochem Cytochem 54, 109-118, 2006. 80. Sugiyama-Nakagiri Y, Akiyama M＊, Shibata S, Okano H, Shimizu H. Expression of RNA-binding protein Musashi in hair follicle development and hair cycle progression. Am J Pathol 168: 80-92, 2006. 81. Sugiyama-Nakagiri Y, Akiyama M＊, Shimizu H. Hair follicle stem cell-targeted gene transfer and reconstitution system. Gene Ther 13: 732-7, 2006. 82. Fujita Y, Tsuji-Abe Y, Sato-Matsumura KC, Akiyama M, Shimizu H. Nail dystrophy and blisters as sole manifestations in myeloma-associated amyloidosis. J Am Acad Dermatol 54: 712-4, 2006.

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83. Yanagi T, Akiyama M, Aoyagi S, Shibaki A, Honma A, Shimizu H. Marked and restricted cutaneous pigmentation induced by selective intra-arterial cisplatin infusion. J Am Acad Dermatol 54: 362-3, 2006. 84. Goto M, Sawamura D, Ito K, Abe M, Nishie W, Sakai K, Shibaki A, Akiyama M, Shimizu H. Fibroblasts show more potential as target cells than keratinocytes in COL7A1 gene therapy of dystrophic epidermolysis bullosa. J Invest Dermatol 126: 766-72, 2006. 85. Akiyama M＊, Sakai K, Sugiyama-Nakagiri Y, Yamanaka Y, McMillan JR, Sawamura D, Niizeki H, Miyagawa S, Shimizu H. Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. J Invest Dermatol 126: 1518-23, 2006. 86. Sawamura D, Sato-Matsumura K, Shibata S, Tashiro A, Furue M, Goto M, Sakai K, Akiyama M, Nakamura H, Shimizu H. COL7A1 mutation G2037E causes epidermal retention of type VII collagen. J Hum Genet 51: 418-23, 2006. 87. Tomita Y, Akiyama M＊, Shimizu H. PDGF isoforms induce and maintain anagen phase of murine hair follicles. J Dermatol Sci 43: 105-15, 2006. 88. Arita K, Akiyama M, Aizawa T, Umetsu Y, Segawa I, Goto M, Sawamura D, Demura M, Kawano K, Shimizu H. A novel N14Y mutation in connexin26 in KID syndrome – analyses of altered gap junctional communication and molecular structure of N-terminus of mutated connexin26. Am J Pathol 169: 416-23, 2006. 89. Akiyama M＊, Sakai K, Wolff G, Hausser I, McMillan JR, Sawamura D, Shimizu H. A novel ABCA12 mutation 3270delT causes harlequin ichthyosis. Br J Dermatol 155: 1064-1066, 2006.

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90. Sakai K, Akiyama M＊, Watanabe T, Sanayama K, Sugita K, Takahashi M, Suehiro K, Yorifuji K, Shibaki A, Shimizu H. Novel ALDH3A2 heterozygous mutations in a Japanese family of Sjögren-Larsson syndrome. J Invest Dermatol 126: 2545-2547, 2006. 91. Goto M, Sawamura D, Nishie W, Sakai K, McMillan JR, Akiyama M, Shimizu H. Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients. J Invest Dermatol 126: 2614-2620, 2006. 92. Tsuji K, Mitsutake S, Ishikawa J, Takagi Y, Akiyama M, Shimizu H, Tomiyama T, Yasuyuki Igarashi Y. Dietary glucosylceramide improves skin barrier function in hairless mice. J Dermatol Sci 44: 101-107, 2006. 93. Akiyama M＊, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R, Sawamura D, Shimizu H. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 115: 1777-1784, 2005. 94. Sawamura D, Sato-Matsumura KC, Shibaki A, Akiyama M, Kikuchi T, Shimizu H. A case of lichen amyloidosis treated with pulsed dye laser. J Eur Acad Dermatol Venereol 19: 262-263, 2005. 95. Kawasaski H, Sawamura D, Nakazawa H, Hattori N, Goto M, Sato-Matsumura KC, Akiyama M, Shimizu H. Detection of 1733insC mutations in an Asian family with Birt-Hogg-Dubé syndrome. Br J Dermatol 152: 142-145, 2005. 96. Yasukawa K, Sawamura D, Akiyama M, Motoda N, Shimizu H. Keratotic lesions in epidermolysis bullosa simplex with mottled pigmentation. J Am Acad Dermatol 52: 172-3, 2005.

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97. Sawamura D, Abe R, Goto M, Akiyama M, Hemmi H, Akira S, Shimizu H. Direct injection of plasmid DNA into the skin induces dermatitis by activation of monocytes through toll-like receptor 9. J Gene Med 7: 664-671, 2005. 98. Tsuji-Abe Y, Akiyama M＊, Yamanaka Y, Kikuchi T, Sato-Matsumura KC, Shimizu H. Correlation of clinical severity and ELISA indices for the NC16A domain of BP180 measured using BP180 ELISA kit in bullous pemphigoid. J Dermatol Sci 37: 145-149, 2005. 99. Natsuga K, Akiyama M, Shimizu T, Suzuki T, Ito S, Tomita Y, Tanaka J, Shimizu H. Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1. J Invest Dermatol 125: 154-158, 2005. 100. Yanagi T, Akiyama M, Kasai M, Yamakura M, Nishio M, Shimizu H. Multiple skin metastatic melanoma that originated from the sinonasal mucosa. Acta Dermato-Venereol 85: 554-555, 2005. 101. Sawamura D , Goto M, Shibaki A, Akiyama M, McMillan JR, Abiko Y, Shimizu H. Beta defensin-3 engineered epidermis shows highly protective effect for bacterial infection. Gene Ther 12: 857-861, 2005. 102. Fujita Y, Yokota K, Akiyama M, Machino S, Inokuma D, Arita K, Kimura C, Shimizu H. Two cases of atypical membranous aplasia cutis with hair collar sign; one with dermal melanocytosis, and the other with naevus flammeus. Clin Exp Dermatol 30: 497-499, 2005. 103. Kawashima J, Akiyama M＊, Takizawa Y, Takahashi S, Matsuo I, Shimizu H. Structural, enzymatic and molecular studies in a series of non-bullous congenital ichthyosiform erythroderma patients. Clin Exp Dermatol 30: 429-431, 2005.

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104. Natsuga K, Akiyama M, Sato-Matsumura KC, Tsuchiya K, Shimizu H. Two cases of atypical melanocytic lesions in recessive dystrophic epidermolysis bullosa infants. Clin Exp Dermatol 30: 636-639, 2005. 105. Yanagi T, Akiyama M, Arita K, Shimizu H. Nail deformity associated with hereditary multiple exostoses. J Am Acad Dermatol 53: 534-535, 2005. 106. Shimizu A, Akiyama M＊, Ishiko A, Yoshiike T, Suzumori K, Shimizu H. Prenatal exclusion of harlequin ichthyosis; potential pitfalls in the timing of the fetal skin biopsy. Br J Dermatol 153: 811-814, 2005. 107. Tomita Y, Akiyama M, Shimizu H. Stratum corneum hydration and flexibility are useful parameters to indicate clinical severity of congenital ichthyosis. Exp Dermatol 14: 619-624, 2005. 108. Nomura T, Akiyama M＊, Kikuchi T, Kashiwamura M, Shimizu H. Association of infantile cutaneous haemangioma on the face and neck with respiratory distress in infancy. Acta Dermato-Venereol 84: 72-73, 2004. 109. Kimoto M, Akiyama M, Matsuo I. Darier’s disease restricted to sun-exposed areas. Clin Exp Dermatol 29: 37-39, 2004. 110. Arita K, Akiyama M, Tsuji Y, McMillan JR, Eady RAJ, Shimizu H. Gap junction development in the human fetal hair follicle and bulge region. Br J Dermatol 150: 429-434, 2004. 111. Tateishi Y, Sato H, Akiyama M, Abe M, Kobayashi H, Umehara S, Yamaguchi J, Shibaki H, Shimizu H.

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Severe generalized deep dermatophytosis due to Trichophyton rubrum (trichophytic granuloma) in a patient with atopic dermatitis. Arch Dermatol 140: 624-625, 2004. 112. Tsuchida S, Bonkobara M, Yudate T, McMillan JR, Akiyama M, Aragane Y, Tezuka T, Shimizu H, Cruz PD Jr, Ariizumi K. Characterization of Kdap, a protein secreted by keratinocytes. J Invest Dermatol 122:1225-1234, 2004. 113. Yamanaka Y, Akiyama M＊, Shibaki A, Kikuchi T, Shimizu H. Annular lichen planus: study of the cellular mechanisms of annularity. Dermatology 208: 335-338, 2004. 114. Sawamura D, Ina S, Goto M, Akiyama M, Shimizu H. In vivo transfer of TGF- and genes into keratinocytes. J Dermatol Sci 34: 234-236, 2004. 115. Nemoto I, Akiyama M＊, Aoyagi S, Nomura T, Shimizu H. Eccrine porocarcinoma and eccrine poroma arising in a scar. Br J Dermatol 150: 1232-1233, 2004. 116. Aoyagi S, Sato-Matsumura KC, Akiyama M, Tanimura S, Shibaki H, Shimizu H. Spitz naevus of the glans penis; an unusual location. Acta Dermato-venereol 84: 324-325, 2004. 117. Akiyama M＊, Matsuo I, Sawamura D, Shimizu H. Remodeling of desmosomal and hemidesmosomal adhesion systems during human hair follicle development. J Dermatol Sci 35: 154-157, 2004. 118. Tsuji-Abe Y, Akiyama M＊, Nakamura H, Takizawa Y, Sawamura D, Matsunaga K, Suzumori K, Shimizu H. DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10-11 weeks' of pregnancy in two consequent siblings. J Am Acad Dermatol 51: 1008-1011 2004.

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119. Nishie W, Akiyama M, Mayuzumi M, Kuroda T, Ukae S, Shimizu H. A subcutaneous tumor on the forehead of a 12-year-old child: a rare clinical presentation of a frontal mucocele. J Am Acad Dermatol 51: 1030-1031, 2004. 120. Shibaki A, Akiyama M, Shimizu H. Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome. J Invest Dermatol 123: 1197-1199, 2004. 121. Akiyama M＊, Takizawa Y, Suzuki Y, Shimizu H. A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype. Br J Dermatol 148: 149-153, 2003. 122. Akiyama M＊, Takizawa Y, Sawamura D, Matsuo I, Shimizu H. Disruption of suprabasal keratin network by mutation M150T in the helix initiation motif of keratin 10 does not affect cornified cell envelope formation in human epidermis. Exp Dermatol 12: 638-645, 2003. 123. Katane M, Akiyama M＊, Ohnishi T, Watanabe S, Matsuo I. Carcinomatous transformation of eccrine syringofibroadenoma. J Cutan Pathol 30: 211-214, 2003. 124. Arita K, Akiyama M, Tsuji Y, Iwao F, Kodama K, Shimizu H. Squamous cell carcinoma in a patient with non-bullous congenital ichthyosiform erythroderma. Br J Dermatol 148: 367-369, 2003. 125. Tsuji Y, Akiyama M, Arita K, Senshu T, Shimizu H. Changing pattern of deiminated proteins in developing human epidermis. J Invest Dermatol 120: 817-822, 2003. 126. Sawamura D, Goto M, Yasukawa K, Kon A, Akiyama M, Shimizu H. Identification of COL7A1 alternative splicing inserting 9 amino acid residues into the fibronectin type III linker domain.

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J Invest Dermatol 120: 942-948, 2003. 127. Arita K, Akiyama M, Sakai T, Shimizu H. Severely hyperkeratotic erythroderma associated with Hogkin’s diseas−Dose high serum G-CSF contribute to the formation of skin lesions? J Am Acad Dermatol 49: 772-773, 2003. 128. Okubo S, Sato-Matsumura KC, Abe R, Aoyagi S, Akiyama M, Yokota K, Shimizu H. The use of ELISA to detect desmoglein antibodies in a pregnant woman and fetus. Arch Dermatol 139: 1217-1218, 2003. 129. Arita K, Akiyama M, Tsuji Y, Onozuka T, Shimizu H. Erythrokeratoderma variabilis without connexin 31 or connexin 30.3 gene mutation immunohistological, ultrastructural and genetic study. Acta Dermato-Venereol 83: 266-270, 2003. 130. McMillan JR, Haftek M, Akiyama M, South AP, McGrath JA, Eady RAJ, Shimizu H. Alternations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. J Invest Dermatol 121: 96-103, 2003. 131. Siegel DH, Ashton GHS, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R, Fine J-D, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB,

Ogawa H, Sahin S, Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F, Zaghloul AB, Hamada T, Mallipeddi R, Eady RAJ, McLean WHI, McGrath JA,

Epstein EH Jr. Loss of kindlin-1, a human homolog of the C. Elegans actin-extracellular matrix liner protein UNC-112, causes Kindler syndrome. Am J Hum Genet 73:174-187, 2003. 132. Akiyama M＊, Sawamura D, Nomura Y, Sugawara M, Shimizu H.

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Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. J Invest Dermatol 121: 1029-1034, 2003. 133. McMillan JR, Akiyama M, Shimizu H. Ultrastructural orientation of laminin 5 in the epidermal basement membrane: an updated model for basement membrane organization. J Histochem Cytochem 51:1299-1306, 2003. 134. Ishida-Yamamoto A, Senshu T, Eady RAJ, Takahashi H, Shimizu H, Akiyama M, Iizuka H. Sequential reorganization of cornified cell keratin filaments involving filaggrin-mediated compaction and K1 deimination. J Invest Dermatol 118: 282-287, 2002. 135. Akiyama M＊, Matsuo I, Shimizu H. Formation of cornified cell envelope in human hair follicle development. Br J Dermatol 146: 968-976, 2002. 136. Arita K, Akiyama M, Tsuji Y, McMillan JR, Eady RAJ, Shimizu H. Changes in gap junction distribution and connexin expression pattern during human fetal skin development. J Histochem Cytochem 50: 1493-1500, 2002. 137. Kawakami M, Akiyama M＊, Kimoto M, Hirabayashi S, Matsuo I. Extraordinarily large calcifying epithelioma without aggressive behaviour. Dermatology 202: 74-75, 2001. 138. Akiyama M＊, Takizawa Y, Kokaji T, Shimizu H. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. Br J Dermatol 144: 401-407, 2001. 139. Akiyama M＊, Inamoto N. Arteriovenous haemangioma in chronic liver disease: clinical and histopathological features of four cases. Br J Dermatol 144: 604-609, 2001.

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140. Hakuno M, Akiyama M, Shimizu H, Wheelock MJ, Nishikawa T. Upregulation of P-cadherin expression in the lesional skin of pemphigus, Hailey-Hailey disease and Darier’s disease. J Cutan Pathol 28: 277-281, 2001. 141. Katane M, Akiyama M＊, Hatanaka K, Kawada A, Matsuo I. Infiltration of activated eosinophils in the skin lesions of atopic dermatitis. Acta Derm-Venereol 81: 56-57, 2001. 142. Akiyama M＊, Takizawa Y, Suzuki Y, Ishiko A, Matsuo I, Shimizu H. Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis. J Invest Dermatol 116: 992-995, 2001. 143. Ishiko A, Akiyama M, Takizawa Y, Nishikawa T, Shimizu Y, Shimizu H. A novel leucine to valine mutation in residue 7 of the helix initiation motif of keratin10 leads to bullous congenital ichthyosiform erythroderma. J Invest Dermatol 116: 991-992, 2001. 144. Takizawa Y, Akiyama M, Nagashima M, Shimizu H. A novel asparagine ---> aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens. J Invest Dermatol 114: 193-195, 2000. 145. Akiyama M＊, Smith LT, Shimizu H. Changing patterns of localization of putative stem cells in developing human hair follicles. J Invest Dermatol 114: 321-327, 2000. 146. Akiyama M＊, Smith LT, Shimizu H. Expression of transglutaminase activity in developing human epidermis. Br J Dermatol 142: 223-225, 2000. 147. Yotsumoto S, Akiyama M, Yoneda K, Fukushige T, Kobayashi K, Saheki T, Kanzaki T.

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Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis. J Dermatol Sci 24: 119-125, 2000. 148. Noguchi M, Akiyama M＊, Kawakami M, Nagashima T, Niizuma K, Matsuo I. Eccrine syringofibroadenoma developing in a sebaceous nevus. Br J Dermatol 142: 1050-1051, 2000. 149. Hakuno M, Shimizu H, Akiyama M, Amagai M, Wahl JK, Wheelock MJ, Nishikawa T. Dissociation of intra- and extracellular domains of desmosomal cadherins and E-cadherin in Hailey-Hailey disease and Darier's disease. Br J Dermatol 142: 702-711, 2000. 150. Nonaka S, Ishiko A, Masunaga T, Akiyama M, Owaribe K, Shimizu H, Nishikawa T. The extracellular domain of BPAG2 has a turning structure on the carboxy terminal flexible tail in vivo. J Invest Dermatol 115: 889-892, 2000. 151. Akiyama M＊, Suzumori K, Shimizu H. Prenatal diagnosis of harlequin ichthyosis by the examinations of keratinized hair canals and amniotic fluid cells at 19 weeks’ estimated gestational age. Prenat Diagn 19:167-171, 1999. 152. Akiyama M＊, Smith LT, Yoneda K, Holbrook KA, Hohl D, Shimizu H. Periderm cells form cornified cell envelope in their regression process during human epidermal development. J Invest Dermatol 112: 903-909, 1999. 153. Akiyama M＊, Amagai M, Smith LT, Hashimoto K, Shimizu H, Nishikawa T. Epimorphin expression during human foetal hair follicle development. Br J Dermatol 141: 447-452, 1999. 154. Sasaki Y, Shimizu H, Akiyama M, Hiraoka Y, Takizawa Y, Yamada S, Morishima Y, Yamanishi K, Aiso S, Nishikawa T.

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A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex. Br J Dermatol 141: 747-748, 1999. 155. Yoneda K, Morita E, Akiyama M, Kusunoki T, Yamada S, Yamamoto S. Annular epidermolytic ichthyosis. Br J Dermatol 141: 748-750, 1999. 156. Akiyama M＊, Inamoto N, Hashigucci K. Frontal mucocele presenting as a subcutaneous tumour on the forehead. Dermatology 199: 263-264, 1999. 157. Gomi H, Akiyama M, Yakabi K, Nakamura T, Matsuo I. Oesophageal involvement in pemphigus vulgaris. Lancet 354: 1794, 1999. 158. Akiyama M＊, Dale BA, Smith LT, Shimizu H, Holbrook KA. Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses. Prenat Diagn 18: 425-436, 1998. 159. Yoneda K, Akiyama M, Morita K, Shimizu H, Imamura S, Kim S-Y. Expression of transglutaminase 1 in human hair follicles, sebaceous glands and sweat glands. Br J Dermatol 138: 37-44, 1998. 160. Sato M, Shimizu H, Ishiko A, Masunaga T, Akiyama M, Hashimoto T, Kitajima Y, Nishikawa T. Precise ultrastructural localization of in vivo deposited IgG antibodies in fresh perilesional skin of patient with bullous pemphigoid. Br J Dermatol 138: 965-971, 1998. 161. Akiyama M＊, Christiano AM, Yoneda K, Shimizu H. Abnormal cornified cell envelope formation in mutilating palmoplantar keratoderma unrelated to epidermal differentiation complex. J Invest Dermatol 111:133-138, 1998.

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162. Akiyama M＊, Inamoto N. Arteriovenous hemangiomas on the foreheads of patients with chronic liver diseases. Arch Intern Med 158:1469, 1998. 163. Sasaki Y, Shimizu H, Akiyama M, Yoneda K, Ishida-Yamamoto A, Watanabe S, Hata J, Nishikawa T. Abnormalities of basal cell keratin in epidermolysis bullosa simplex do not affect the expression patterns of suprabasal keratins and cornified cell envelope proteins. Arch Dermatol Res 290: 591-597, 1998. 164. Akiyama M＊, Kim S-Y, Yoneda K, Shimizu H. Expression of transglutaminase 1 (transglutaminase K) in harlequin ichthyosis. Arch Dermatol Res 289: 116-119, 1997. 165. Akiyama M＊, Inamoto N, Nakamura K. Malignant histiocytosis presenting as multiple erythematous plaques and cutaneous depigmentation. Am J Dermatopathol 19: 299-302, 1997. 166. Akiyama M＊, Inamoto N, Nakamura K. Malignant melanoma and squamous cell carcinoma forming one tumour on a burn scar. Dermatology 194: 157-161, 1997. 167. Akiyama M＊, Shimizu H, Yoneda K, Nishikawa T. Collodion baby: ultrastructure and distribution of cornified cell envelope proteins and keratins. Dermatology 195: 164-168, 1997. 168. Akiyama M＊, Inamoto N, Kuramochi S, Nakamura K. Spitz naevus with a predominant epithelioid cell component and halo reaction. Histopathology 31: 292-293, 1997. 169. Akiyama M＊, Smith LT, Holbrook KA. Growth factor and growth factor receptor localization in the hair follicle bulge and associated tissue in human fetus. J Invest Dermatol 106: 391-396, 1996.

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170. Akiyama M＊, Yoneda K, Kim S-Y, Koyama H, Shimizu H. Cornified cell envelope proteins and keratins are normally distributed in harlequin ichthyosis. J Cutan Pathol 23: 571-575, 1996. 171. Akiyama M＊, Niizeki H, Inamoto N, Nakamura K. Basal cell carcinoma associated with a giant comedone. Br J Dermatol 133: 662-663, 1995. 172. Akiyama M＊, Dale BA, Sun T-T, Holbrook KA. Characterization of hair follicle bulge in human fetal skin: the human fetal bulge is a pool of undifferentiated keratinocytes. J Invest Dermatol 105: 844-850, 1995. 173. Akiyama M＊, Kim D-K, Main DM, Otto CE, Holbrook KA. Characteristic morphological abnormality of harlequin ichthyosis detected in amniotic fluid cells. J Invest Dermatol 102: 210-213, 1994. 174. Akiyama M＊, Aranami A, Sasaki Y, Ebihara T, Sugiura M. Familial linear and whorled nevoid hypermelanosis. J Am Acad Dermatol 30: 831-833, 1994. 175. Shimizu H, Ishiko A, Kikuchi A, Akiyama M, Suzumori K, Nishikawa T. Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism. Prenat Diagn 14: 443-450, 1994. 176. Sale GE, Beauchamp MD, Akiyama M. Parafollicular bulge, but not hair bulb keratinocytes are attacked in graft-versus-host disease (GVHD) of human skin. Bone Marrow Transplant 14: 411-413, 1994. 177. Akiyama M＊, Holbrook KA. Analysis of skin-derived amniotic fluid cells in the second trimester; detection of severe genodermatoses expressed in the fetal period.

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J Invest Dermatol 103: 674-677, 1994. 178. Kikuchi A, Akiyama M, Han-yaku H, Shimizu H, Naka W, Nishikawa T. Solitary cutaneous malignant schwannoma: Immunohistochemical and ultrastructural studies. Am J Dermatopathol 15: 15-19, 1993. 179. Akiyama M, Hata Y, Nishikawa T. Keratoacanthoma with glandular proliferation. J Dermatol 20: 109-113, 1993. 180. Akiyama M, Hashimoto T, Sugiura M, Nishikawa T. Ultrastructural localization of Brazilian pemphigus foliaceus (fogo selvagem) antigens in cultured human squamous cell carcinoma cells. Br J Dermatol 128: 378-383, 1993. 181. Akiyama M, Yokoyama M, Katsuki M, Habu S, Nishikawa T. Lymphocyte infiltration of the skin in transgenic mice carrying the human interleukin-2 gene. Arch Dermatol Res 285: 379-384, 1993. 182. Kikuchi A, Sakuraoka K, Kurihara S, Akiyama M, Shimizu H, Nishikawa T. CD8+ cutaneous anaplastic large-cell lymphoma: report of two cases with immunophenotyping, T-cell-receptor gene rearrangement and electron microscopic studies. Br J Dermatol 126: 404-408, 1992. 183. Shimizu H, Ishiko A, Kikuchi A, Akiyama M, Suzumori K, Nishikawa T. Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism. Lancet 340: 739-740, 1992. 184. Akiyama M, Shimizu H, Sugiura M, Nishikawa T. Do pigmented nevi in albinism provide evidence of tyrosinase positivity? Br J Dermatol 127: 649-653, 1992. 185. Akiyama M, Hashimoto T, Sugiura M, Nishikawa T.

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Ultrastructural localization of autoantigens of intercellular IgA vesiculopustular dermatosis in cultured human squamous cell carcinoma cells. Arch Dermatol Res 284: 371-373, 1992. 186. Akiyama M, Sasaki Y, Takahashi S, Hayakawa K, Suzuki H, Nishikawa T. Coexistent urticaria pigmentosa, acromegaly and acanthosis nigricans. Dermatologica 182: 52-55, 1991. 187. Akiyama M, Watanabe Y, Nishikawa T. Immunohistochemical characterization of human cutaneous mast cells in urticaria pigmentosa (cutaneous mastocytosis). Acta Pathol Jpn 41: 344-349, 1991. 188. Akiyama M, Hashimoto T, Sugiura M, Nishikawa T. Ultrastructural localization of pemphigus vulgaris and pemphigus foliaceus antigens in cultured human squamous cell carcinoma cells. Br J Dermatol 125: 233-237, 1991. 189. Akiyama M, Sugiura M, Shimizu H, Nishikawa T. No significant change of glycoconjugates exists in the epidermis of familial benign chronic pemphigus. Arch Dermatol Res 283: 537-539, 1991. 190. Akiyama M＊, Hayakawa K, Watanabe Y, Nishikawa T. Lectin-binding sites in clear cell acanthoma. J Cutan Pathol 17: 197-201, 1990. 191. Akiyama M＊. A clinical and histological study on urticaria pigmentosa: relationships between mast cell proliferation and the clinical and histological manifestations. J Dermatol 17: 347-355, 1990. 192. Akiyama M＊, Watanabe Y, Nishikawa T. Peroxidase activity in mast cell granules in urticaria pigmentosa. Dermatologica 178: 145-150, 1989.

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193. Akiyama M＊, Naka W, Harada T, Nishikawa T. Angiosarcoma with dermal melanocytosis. J Cutan Pathol 16: 149-153, 1989.

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（２）英文総説 （＊は corresponding author） 1. Akiyama M＊. ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic concepts. Hum Mutation (in press). 2. Hsu C-K, Akiyama M＊, Shimizu H. Update on filaggrin mutations and atopic dermatitis. Expert Rev Dermatol 5: 315-323, 2010. 3. Akiyama M＊. FLG mutations in ichthyosis vulgaris and atopic eczema; spectrum of mutations and population genetics. Br J Dermatol 162: 472-477, 2010. 4. McMillan JR, Long HA, Akiyama M, Shimizu H, Kimble RM. Epidermolysis bullosa (EB) – diagnosis and therapy. Wound Practice Res 17: 62-70, 2009. 5. Long HA, McMillan JR, Qiao H, Akiyama M, Shimizu H. Current advances in gene therapy for the treatment of genodermatoses. Curr Gene Ther 9: 487-494, 2009. 6. Akiyama M＊, Shimizu H. An update on molecular aspects of the non-syndromic ichthyoses. Exp Dermatol 17: 373-382, 2008. 7. Hsu C-K, Akiyama M＊, Shimizu H. Filaggrin: an emerging star in atopic march. J Formos Med Assoc 107: 429-431, 2008. 8. Hoshina D, Sawamura D, Nomura T, Tanimura S, Abe M, Onozuka T, Kodama K, Akiyama M, Shimizu H. Epidermolysis bullosa acquisita associated with psoriasis vulgaris. Clin Exp Dermatol 32: 516-8, 2007. 9. Akiyama M＊.

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Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases. Arch Dermatol 142: 914-918, 2006. 10. Akiyama M＊. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci 42: 83-9, 2006. 11. Mayuzumi M, Akiyama M＊, Nishie W, Ukae S, Abe M, Sawamura D, Hashimoto T, Shimizu H. Childhood epidermolysis bullosa acquisita with autoantibodies against the non-collagenous 1 and 2 domains of type VII collagen: a case report and a review of the literature. Br J Dermatol 155: 1048-1052, 2006. 12. Akiyama M＊, Tsuji-Abe Y, Yanagihara M, Nakajima K, Kodama H, Yaosaka M, Abe M, Sawamura D, Shimizu H. Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. Br J Dermatol 152: 1353-1356, 2005. 13. Akiyama M＊, Sawamura D, Shimizu H. The clinical spectrum of non-bullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol 28: 235-240, 2003. 14. McMillan JR, Akiyama M, Shimizu H. Epidermal basement membrane zone components: ultrastructural distribution and molecular interactions. J Dermatol Sci 31: 169-77, 2003. 15. Sawamura D, McMillan JR, Akiyama M, Shimizu H. Epidermolysis bullosa: Directions for future research and new challenges for treatment. Arch Dermatol Res 295 (Suppl 1): S34-42, 2003. 16. Sawamura D, Akiyama M, Shimizu H.

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Direct injection of naked DNA and cytokine transgene expression: implications for keratinocyte gene therapy. Clin Exp Dermatol 27: 480-484, 2002. 17. Akiyama M＊. The pathogenesis of severe congenital ichthyosis of the neonate. J Dermatol Sci 21: 96-104, 1999. 18. Akiyama M＊. Severe congenital ichthyosis of the neonate. Int J Dermatol 37: 722-728, 1998.