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Masashi Akiyama

Department of Dermatology

Hokkaido University Graduate School of Medicine

North 15 West 7

Kita-ku

Japan

[email]@med.hokudai.ac.jp

Name/email consistency: high

 
 
 
 
 
 
 

Affiliations

  • Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Japan. 2002 - 2010
  • Institut für Humangenetik und Anthropologie, Albert-Ludwigs-Universität Freiburg, Freiburg, Germany. 2006

References

  1. Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations. Akiyama, M., Sakai, K., Yanagi, T., Tabata, N., Yamada, M., Shimizu, H. Br. J. Dermatol. (2010) [Pubmed]
  2. Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis. Akiyama, M., Sakai, K., Yanagi, T., Fukushima, S., Ihn, H., Hitomi, K., Shimizu, H. Am. J. Pathol. (2010) [Pubmed]
  3. FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics. Akiyama, M. Br. J. Dermatol. (2010) [Pubmed]
  4. CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes. Akiyama, M., Sakai, K., Takayama, C., Yanagi, T., Yamanaka, Y., McMillan, J.R., Shimizu, H. Am. J. Pathol. (2008) [Pubmed]
  5. An update on molecular aspects of the non-syndromic ichthyoses. Akiyama, M., Shimizu, H. Exp. Dermatol. (2008) [Pubmed]
  6. Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis. Akiyama, M., Sakai, K., Sato, T., McMillan, J.R., Goto, M., Sawamura, D., Shimizu, H. Dermatology. (Basel) (2007) [Pubmed]
  7. Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. Akiyama, M., Sakai, K., Ogawa, M., McMillan, J.R., Sawamura, D., Shimizu, H. Muscle. Nerve (2007) [Pubmed]
  8. DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences. Akiyama, M., Titeux, M., Sakai, K., McMillan, J.R., Tonasso, L., Calvas, P., Jossic, F., Hovnanian, A., Shimizu, H. J. Invest. Dermatol. (2007) [Pubmed]
  9. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. Akiyama, M. J. Dermatol. Sci. (2006) [Pubmed]
  10. Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. Akiyama, M., Sakai, K., Sugiyama-Nakagiri, Y., Yamanaka, Y., McMillan, J.R., Sawamura, D., Niizeki, H., Miyagawa, S., Shimizu, H. J. Invest. Dermatol. (2006) [Pubmed]
  11. Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases. Akiyama, M. Arch. Dermatol (2006) [Pubmed]
  12. A novel ABCA12 mutation 3270delT causes harlequin ichthyosis. Akiyama, M., Sakai, K., Wolff, G., Hausser, I., McMillan, J.R., Sawamura, D., Shimizu, H. Br. J. Dermatol. (2006) [Pubmed]
  13. Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. Akiyama, M., Tsuji-Abe, Y., Yanagihara, M., Nakajima, K., Kodama, H., Yaosaka, M., Abe, M., Sawamura, D., Shimizu, H. Br. J. Dermatol. (2005) [Pubmed]
  14. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. Akiyama, M., Sugiyama-Nakagiri, Y., Sakai, K., McMillan, J.R., Goto, M., Arita, K., Tsuji-Abe, Y., Tabata, N., Matsuoka, K., Sasaki, R., Sawamura, D., Shimizu, H. J. Clin. Invest. (2005) [Pubmed]
  15. A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype. Akiyama, M., Takizawa, Y., Suzuki, Y., Shimizu, H. Br. J. Dermatol. (2003) [Pubmed]
  16. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Akiyama, M., Sawamura, D., Shimizu, H. Clin. Exp. Dermatol. (2003) [Pubmed]
  17. Disruption of the suprabasal keratin network by mutation M150T in the helix initiation motif of keratin 10 does not affect cornified cell envelope formation in human epidermis. Akiyama, M., Takizawa, Y., Sawamura, D., Matsuo, I., Shimizu, H. Exp. Dermatol. (2003) [Pubmed]
  18. Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. Akiyama, M., Sawamura, D., Nomura, Y., Sugawara, M., Shimizu, H. J. Invest. Dermatol. (2003) [Pubmed]
  19. Formation of cornified cell envelope in human hair follicle development. Akiyama, M., Matsuo, I., Shimizu, H. Br. J. Dermatol. (2002) [Pubmed]
 
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