論文 - 秋山 真志
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Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR. 査読有り
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, McGrath JA
The Journal of investigative dermatology 134 巻 ( 10 ) 頁： 2570-8 2014年10月
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Solitary organizing pneumonia mimicking lung adenocarcinoma in systemic sclerosis. 査読有り
Sugiura K, Muro Y, Akiyama M
Arthritis & rheumatology (Hoboken, N.J.) 66 巻 ( 9 ) 頁： 2648 2014年9月
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Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis. 査読有り
Ogawa Y, Takeichi T, Kono M, Hamajima N, Yamamoto T, Sugiura K, Akiyama M.
PLoS Genet 10 巻 ( 5 ) 頁： e1004276 2014年5月
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Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations 査読有り
Kono M, Nomura T, Oguchi Y, Mizuno O, Suzuki S, Tsujiuchi H, Hamajima N, McLean WHI, Shimizu H, Akiyama M
Allergy 69 巻 ( 4 ) 頁： 537-540 2014年4月
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Mutations in the Grainyhead-like 2 transcription factor result in an autosomal recessive ectodermal dysplasia syndrome 査読有り
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 WHI, Simpson MA, Parsons M, McGrath JA
Am J Hum Genet 95 巻 ( 3 ) 頁： 308-314 2014年3月
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High survival rate of harlequin ichthyosis in Japan. 査読有り
Shibata A, Ogawa Y, Sugiura K, Muro Y, Abe R, Suzuki T, Akiyama M
Journal of the American Academy of Dermatology 70 巻 ( 2 ) 頁： 387-8 2014年2月
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The majority of generalized pusular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist 査読有り
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
J Invest Dermatol 133 巻 ( 11 ) 頁： 2514-2521 2013年11月
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Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease 査読有り
Kono M, Sugiura K, Suganuma M, Hayashi M, Takama H, Suzuki T, Matsunaga K, Tomita Y, Akiyama M
Hum Mol Genet 22 巻 ( 17 ) 頁： 3524-3533 2013年5月
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The β9 loop domain of PA-PLA1α has a crucial role in autosomal recessive woolly hair/hypotrichosis. 査読有り
132 巻 ( 8 ) 頁： 2093-5 2012年8月
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Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma 査読有り
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
Nature Genetics 44 巻 頁： 1272-1276 2012年
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Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 査読有り
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, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H
63 巻 ( 4 ) 頁： 607-41 2010年10月
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Bone marrow transplantation restores epidermal basement membrane protein expression and rescues epidermolysis bullosa model mice 査読有り
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
Proc Natl Acad Sci U S A 107 巻 ( 32 ) 頁： 14345-50 2010年8月
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Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects 査読有り
Yanagi T, Akiyama M, Nishihara H, Sakai K, Nishie W, Tanaka S, Shimizu H
Hum Mol Genet 17 巻 ( 19 ) 頁： 3075-83 2008年10月
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Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis 査読有り
Arita K, South AP, Hans-Filho G, Sakuma TH, Lai-Cheong J, Clements S, Odashiro M, Odashiro DN, Hans-Neto G, Hans NR, Holder MV, Bhogal BS, Hartshorne ST, Akiyama M, Shimizu H, McGrath JA
Am J Hum Genet 82 巻 ( 1 ) 頁： 73-80 2008年1月
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Humanization of autoantigen 査読有り
Nishie W, Sawamura D, Goto M, Ito K, Shibaki A, McMillan JR, Sakai K, Nakamura H, Olasz E, Yancey KB, Akiyama M, Shimizu H
Nat Med 13 巻 ( 3 ) 頁： 378-83 2007年3月
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Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis 査読有り
Nomura T, Sandilands A, Akiyama M, Liao H, Evans AT, Sakai K, Ota M, Sugiura H, Yamamoto K, Sato H, Palmer CN, Smith FJ, McLean WH, Shimizu H
J Allergy Clin Immunol 119 巻 ( 2 ) 頁： 434-40 2007年2月
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Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer 査読有り
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
J Clin Invest 115 巻 ( 7 ) 頁： 1777-84 2005年7月
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Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome 査読有り
Siegel DH, Ashton GH, 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 JD, 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 RA, McLean WH, McGrath JA, Epstein EH
Am J Hum Genet 73 巻 ( 1 ) 頁： 174-87 2003年7月
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Oesophageal involvement in pemphigus vulgaris 査読有り
Gomi H, Akiyama M, Yakabi K, Nakamura T, Matsuo I
Lancet 354 巻 ( 9192 ) 頁： 1794 1999年11月
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Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism 査読有り
Shimizu H, Ishiko A, Kikuchi A, Akiyama M, Suzumori K, Nishikawa T
Lancet 340 巻 ( 8821 ) 頁： 739-40 1992年9月