Papers - AKIYAMA, Masashi
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Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR. Reviewed
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 Vol. 134 ( 10 ) page： 2570-8 2014.10
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Solitary organizing pneumonia mimicking lung adenocarcinoma in systemic sclerosis. Reviewed
Sugiura K, Muro Y, Akiyama M
Arthritis & rheumatology (Hoboken, N.J.) Vol. 66 ( 9 ) page： 2648 2014.9
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Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis. Reviewed
Ogawa Y, Takeichi T, Kono M, Hamajima N, Yamamoto T, Sugiura K, Akiyama M.
PLoS Genet Vol. 10 ( 5 ) page： e1004276 2014.5
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Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations Reviewed
Kono M, Nomura T, Oguchi Y, Mizuno O, Suzuki S, Tsujiuchi H, Hamajima N, McLean WHI, Shimizu H, Akiyama M
Allergy Vol. 69 ( 4 ) page： 537-540 2014.4
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Mutations in the Grainyhead-like 2 transcription factor result in an autosomal recessive ectodermal dysplasia syndrome Reviewed
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 Vol. 95 ( 3 ) page： 308-314 2014.3
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High survival rate of harlequin ichthyosis in Japan. Reviewed
Shibata A, Ogawa Y, Sugiura K, Muro Y, Abe R, Suzuki T, Akiyama M
Journal of the American Academy of Dermatology Vol. 70 ( 2 ) page： 387-8 2014.2
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The majority of generalized pusular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist Reviewed
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 Vol. 133 ( 11 ) page： 2514-2521 2013.11
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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 Reviewed
Kono M, Sugiura K, Suganuma M, Hayashi M, Takama H, Suzuki T, Matsunaga K, Tomita Y, Akiyama M
Hum Mol Genet Vol. 22 ( 17 ) page： 3524-3533 2013.5
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The β9 loop domain of PA-PLA1α has a crucial role in autosomal recessive woolly hair/hypotrichosis. Reviewed
Vol. 132 ( 8 ) page： 2093-5 2012.8
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Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma Reviewed
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 Vol. 44 page： 1272-1276 2012
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Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. Reviewed
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
Vol. 63 ( 4 ) page： 607-41 2010.10
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Bone marrow transplantation restores epidermal basement membrane protein expression and rescues epidermolysis bullosa model mice Reviewed
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 Vol. 107 ( 32 ) page： 14345-50 2010.8
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Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects Reviewed
Yanagi T, Akiyama M, Nishihara H, Sakai K, Nishie W, Tanaka S, Shimizu H
Hum Mol Genet Vol. 17 ( 19 ) page： 3075-83 2008.10
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Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis Reviewed
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 Vol. 82 ( 1 ) page： 73-80 2008.1
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Humanization of autoantigen Reviewed
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 Vol. 13 ( 3 ) page： 378-83 2007.3
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Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis Reviewed
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 Vol. 119 ( 2 ) page： 434-40 2007.2
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Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer Reviewed
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 Vol. 115 ( 7 ) page： 1777-84 2005.7
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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 Reviewed
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 Vol. 73 ( 1 ) page： 174-87 2003.7
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Oesophageal involvement in pemphigus vulgaris Reviewed
Gomi H, Akiyama M, Yakabi K, Nakamura T, Matsuo I
Lancet Vol. 354 ( 9192 ) page： 1794 1999.11
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Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism Reviewed
Shimizu H, Ishiko A, Kikuchi A, Akiyama M, Suzumori K, Nishikawa T
Lancet Vol. 340 ( 8821 ) page： 739-40 1992.9