M Akiyama

Summary

Affiliation: Hokkaido University
Country: Japan

Publications

  1. ncbi Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Invest Dermatol 126:1518-23. 2006
  2. ncbi Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations
    M Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, Sapporo 060 8638, Japan
    Br J Dermatol 163:201-4. 2010
  3. ncbi The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis
    M Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Clin Exp Dermatol 28:235-40. 2003
  4. pmc Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo 060 8638, Japan
    Am J Pathol 176:1592-9. 2010
  5. doi FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics
    M Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Br J Dermatol 162:472-7. 2010
  6. ncbi 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
    M Akiyama
    Departament of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Exp Dermatol 12:638-45. 2003
  7. ncbi Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Sapporo 060 8638, Japan
    J Dermatol Sci 42:83-9. 2006
  8. pmc CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo 060 8638, Japan
    Am J Pathol 173:1349-60. 2008
  9. doi An update on molecular aspects of the non-syndromic ichthyoses
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Exp Dermatol 17:373-82. 2008
  10. ncbi Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing
    M Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo 060 8638, Japan
    Br J Dermatol 152:1353-6. 2005

Collaborators

Detail Information

Publications126 found, 100 shown here

  1. ncbi Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Invest Dermatol 126:1518-23. 2006
    ..No de novo mutation in ABCA12 has yet been reported either in HI or lamellar ichthyosis. The present case suggested that a de novo ABCA12 mutation might underlie HI...
  2. ncbi Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations
    M Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, Sapporo 060 8638, Japan
    Br J Dermatol 163:201-4. 2010
    ..We report that a Japanese patient with CIE, harbouring one previously unreported ALOX12B mutation p.Arg442Gln and another known mutation p.Arg432X, showed partially disturbed secretion of lamellar granule (LG) contents in the epidermis...
  3. ncbi The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis
    M Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Clin Exp Dermatol 28:235-40. 2003
    ....
  4. pmc Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo 060 8638, Japan
    Am J Pathol 176:1592-9. 2010
    ..The present results clearly indicate that pepK5 is a powerful tool for screening LI patient TGase1 deficiency when we make molecular diagnosis of LI...
  5. doi FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics
    M Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Br J Dermatol 162:472-7. 2010
    ..A restoration of the barrier function seems a feasible and promising strategy for treatment and prevention in individuals with filaggrin deficiency...
  6. ncbi 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
    M Akiyama
    Departament of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Exp Dermatol 12:638-45. 2003
    ..These findings suggest that a normal CCE is formed during the process of human epidermal keratinization, even if the suprabasal keratin filament network is disrupted as with this particular K10 mutation, M150T in BCIE...
  7. ncbi Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Sapporo 060 8638, Japan
    J Dermatol Sci 42:83-9. 2006
    ..Information concerning ARCI genetic defects and disease pathomechanisms are beneficial for providing better treatments and genetic counseling including prenatal diagnosis for families affect by ichthyoses...
  8. pmc CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo 060 8638, Japan
    Am J Pathol 173:1349-60. 2008
    ..Our results indicate that CGI-58 is expressed and packaged into LGs during keratinization and likely plays crucial role(s) in keratinocyte differentiation and LG lipid metabolism, contributing to skin lipid barrier formation...
  9. doi An update on molecular aspects of the non-syndromic ichthyoses
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Exp Dermatol 17:373-82. 2008
    ....
  10. ncbi Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing
    M Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo 060 8638, Japan
    Br J Dermatol 152:1353-6. 2005
    ..The present results indicate that IBS is not such a rare entity as was previously thought, and accurate diagnosis is now available by mutation analysis...
  11. ncbi Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Dermatology 215:155-9. 2007
    ..The present patient demonstrates that rapid diagnosis of HI by ABCA12 expression analysis and mutation detection, and early commencement of systemic retinoid therapy are crucial to significantly improving an HI patient's prognosis...
  12. pmc Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Clin Invest 115:1777-84. 2005
    ..Our findings not only allow DNA-based early prenatal diagnosis but also suggest the possibility of gene therapy for HI...
  13. ncbi Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, N15 W7, Sapporo 060 8638, Japan
    Muscle Nerve 36:856-9. 2007
    ..Gln160ProfsX19) in the patatin domain, the ATGL active site, was detected in a woman with NLSD and severe myopathy. The present results suggest that a premature truncation mutation in the patatin domain causes NLSD with severe myopathy...
  14. ncbi Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Arch Dermatol 142:914-8. 2006
    ....
  15. ncbi DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Invest Dermatol 127:568-73. 2007
    ..This report provides evidence for residual ABCA12 expression in HI, and demonstrates the efficiency of early DNA-based PD of HI...
  16. ncbi A novel ABCA12 mutation 3270delT causes harlequin ichthyosis
    M Akiyama
    Institut fur Humangenetik und Anthropologie, Albert Ludwigs Universitat Freiburg, Freiburg, Germany
    Br J Dermatol 155:1064-6. 2006
  17. ncbi A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype
    M Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, Sapporo 060 8638, Japan
    Br J Dermatol 148:149-53. 2003
    ..Thus, the present homozygous mutation is expected to cause total loss of TGase 1 activity, resulting in large, dark, lamellar scales on the entire body, the classic phenotype of LI, in this patient...
  18. ncbi Formation of cornified cell envelope in human hair follicle development
    M Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, Sapporo 060 8638, Japan
    Br J Dermatol 146:968-76. 2002
    ....
  19. ncbi Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Invest Dermatol 121:1029-34. 2003
    ....
  20. doi ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts
    Masashi Akiyama
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Hum Mutat 31:1090-6. 2010
    ..Recent work using mouse models confirmed ABCA12 roles in skin barrier formation...
  21. ncbi Precise ultrastructural localization of in vivo deposited IgG antibodies in fresh perilesional skin of patients with bullous pemphigoid
    M Sato
    Department of Dermatology, Keio University School of Medicine, Tokyo, Japan
    Br J Dermatol 138:965-71. 1998
    ....
  22. doi FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema
    I Nemoto-Hasebe
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Br J Dermatol 161:1387-90. 2009
    ..Mutations in the gene encoding filaggrin (FLG) have been shown to predispose to atopic eczema (AE)...
  23. doi Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations
    C K Hsu
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, Sapporo 060 8638, Japan
    Br J Dermatol 161:448-51. 2009
    ..Mutations in the gene encoding filaggrin (FLG) were identified to underlie ichthyosis vulgaris (IV) and also shown to predispose to atopic eczema. Until now, no FLG mutations have been described in the Taiwanese population...
  24. ncbi A severe and refractory case of anti-p200 pemphigoid resulting in multiple skin ulcers and scar formation
    Y Goto-Ohguchi
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Dermatology 218:265-71. 2009
    ..In the present case, methylprednisolone pulse therapy was effective enough to reduce the disease activity...
  25. ncbi Dissociation of intra- and extracellular domains of desmosomal cadherins and E-cadherin in Hailey-Hailey disease and Darier's disease
    M Hakuno
    Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo 160 8582, Japan
    Br J Dermatol 142:702-11. 2000
    ..This common phenomenon in HHD and DD might be closely related to the pathophysiological mechanisms in both conditions...
  26. doi Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome
    Mayumi Ujihara
    Department of Dermatology, Kochi Medical School, Kochi University, Oko cho, Nankoku, Japan
    J Dermatol Sci 57:102-7. 2010
    ..DCS patients often have mutations in CGI-58, which is an activator of adipose triglyceride lipase (ATGL), leading to accumulation of triglycerides (TG)...
  27. ncbi Abnormalities of basal cell keratin in epidermolysis bullosa simplex do not affect the expression patterns of suprabasal keratins and cornified cell envelope proteins
    Y Sasaki
    Department of Dermatology, Keio University School of Medicine, Tokyo, Japan
    Arch Dermatol Res 290:591-7. 1998
    ..Thus, the abnormality in basal cell keratins in patients with EBS did not appear to alter the patterns of expression of the keratins and CCE precursor proteins...
  28. ncbi Structural, enzymatic and molecular studies in a series of nonbullous congenital ichthyosiform erythroderma patients
    J Kawashima
    Department of Dermatology, Tokyo Dental College, Ichikawa General Hospital, Japan
    Clin Exp Dermatol 30:429-31. 2005
    ..NBCIE cases with normal TGase 1 seemed to have two distinct patterns of abnormality, one with abnormal lipid droplets and malformed lamellar granules and the other with defective CCE formation...
  29. ncbi 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
    Maki Goto
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Invest Dermatol 126:2614-20. 2006
    ..We conclude that skipping of targeted exons using mutation-specific AON may show potential for future gene therapy for DEB patients...
  30. ncbi Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis
    S Yotsumoto
    Department of Dermatology, Faculty of Medicine, Kagoshima University, 8 35 1 Sakuragaoka, 890 8520, Kagoshima, Japan
    J Dermatol Sci 24:119-25. 2000
    ..These results suggest that defective transglutaminase activity caused by homozygous TGM1 gene mutation (G143R) results in disruption of cornified envelope assembly and the clinical phenotype of lamellar ichthyosis...
  31. ncbi Changing patterns of localization of putative stem cells in developing human hair follicles
    M Akiyama
    Department of Dermatology, Teikyo University School of Medicine, Ichihara Hospital, Chiba, Japan
    J Invest Dermatol 114:321-7. 2000
    ....
  32. ncbi Expression of transglutaminase 1 in human hair follicles, sebaceous glands and sweat glands
    K Yoneda
    Department of Dermatology, Kyoto University Faculty of Medicine, Japan
    Br J Dermatol 138:37-44. 1998
    ..A high level of fluorescence was observed at the cuticle of the cortex. Sebaceous and sweat gland cells contained abundant TGase 1. Possible functions of TGase 1 in these epidermal appendages are discussed...
  33. ncbi Extensive proliferative nodules in a case of giant congenital naevus
    S Aoyagi
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Clin Exp Dermatol 33:125-7. 2008
    ....
  34. ncbi Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma
    M Akiyama
    Department of Dermatology, Teikyo University School of Medicine, Ichihara Hospital, 3426 3 Anesaki, Ichihara, Chiba 299 0111, Japan
    Br J Dermatol 144:401-7. 2001
    ....
  35. doi A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa
    Y Nomura
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Br J Dermatol 168:206-9. 2013
    ..Recently, loss-of-function mutations in the genes encoding γ-secretase have been identified as a cause of familial HS in the Chinese and British populations...
  36. ncbi Epidermolysis bullosa acquisita associated with psoriasis vulgaris
    D Hoshina
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Clin Exp Dermatol 32:516-8. 2007
    ..This study suggests that western blotting using recombinant full-length type VII collagen could be useful for diagnosis of EBA, and that EBA associated with psoriasis may have a tendency to be the inflammatory type...
  37. ncbi Beta defensin-3 engineered epidermis shows highly protective effect for bacterial infection
    D Sawamura
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Gene Ther 12:857-61. 2005
    ..These results, taken together, indicate that the therapeutic introduction of the HBD3 gene into somatic cells may provide a new gene therapy strategy for intractable infectious diseases...
  38. ncbi The extracellular domain of BPAG2 has a loop structure in the carboxy terminal flexible tail in vivo
    S Nonaka
    Department of Dermatology, Keio University School of Medicine, Tokyo, Japan
    J Invest Dermatol 115:889-92. 2000
    ..This unique structure of the antigen is thought to contribute to dermo- epidermal adhesion by intertwining with other basement membrane components...
  39. ncbi Eccrine porocarcinoma and Bowen's disease arising in a seborrhoeic keratosis
    D Hoshina
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Clin Exp Dermatol 32:54-6. 2007
    ..This case suggests an implication of pre-existing SK in the subsequent development of both BD and eccrine porocarcinoma...
  40. doi Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss
    I Nemoto-Hasebe
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Sapporo, Japan
    Br J Dermatol 161:452-5. 2009
    ..Mutations in connexin genes including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30) and GJA1 (Cx43) are responsible for various dermatological syndromes and/or inherited hearing loss, frequently showing overlapping phenotypes...
  41. doi Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex
    Ken Natsuga
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Hum Mutat 31:308-16. 2010
    ..These results also clearly account for the majority of EBS-MD PLEC1 mutation restriction within the large exon 31 that encodes the plectin rod domain, whereas EBS-PA PLEC1 mutations are generally outside exon 31...
  42. ncbi Sequential reorganization of cornified cell keratin filaments involving filaggrin-mediated compaction and keratin 1 deimination
    Akemi Ishida-Yamamoto
    Department of Dermatology, Asahikawa Medical College, Midorigaoka Higashi Asahikawa, Japan
    J Invest Dermatol 118:282-7. 2002
    ..Abnormal keratin aggregation in bullous congenital ichthyosiform erythroderma is likely to disturb the normal deimination of K1...
  43. pmc Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice
    Teruki Yanagi
    Department of Dermatology, Hokkaido University Graduate School of Medicine, N15 W7, Kita ku, Sapporo 060 8638, Japan
    Am J Pathol 177:106-18. 2010
    ..This restoration may account for the skin phenotype improvement observed in HI survivors...
  44. ncbi Fibroblasts show more potential as target cells than keratinocytes in COL7A1 gene therapy of dystrophic epidermolysis bullosa
    Maki Goto
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Invest Dermatol 126:766-72. 2006
    ..An ultrastructural study revealed that collagen VII from gene-transferred cells formed proper anchoring fibrils. These results suggest that fibroblasts may be a better gene therapy target of DEB treatment than keratinocytes...
  45. doi Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood
    K Tanahashi
    Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya, Japan
    J Eur Acad Dermatol Venereol 27:1182-4. 2013
    ..However, all 12 Japanese children previously reported to have ARWH have shown similar severity of hypotrichosis...
  46. ncbi Prenatal exclusion of harlequin ichthyosis; potential pitfalls in the timing of the fetal skin biopsy
    A Shimizu
    Department of Dermatology, Hokkaido University Graduate School of Medicine, N15 W7, Kita ku, Sapporo 060 8638, Japan
    Br J Dermatol 153:811-4. 2005
    ..However, prenatal testing must be done earlier than 21 weeks EGA in several countries including Japan where the present HI families live, because termination is legally allowed only until 22 weeks EGA...
  47. ncbi A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens
    Y Takizawa
    Department of Dermatology, Keio University School of Medicine, Shinjuku ku, Tokyo, Japan
    J Invest Dermatol 114:193-5. 2000
    ..Our data indicate aspartic acid substitution in codon 192 in the 1A helix initiation site is deleterious to keratin filament network integrity and leads to ichthyosis bullosa of Siemens phenotype...
  48. ncbi Detection of 1733insC mutations in an Asian family with Birt-Hogg-Dubé syndrome
    H Kawasaki
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, Sapporo 060 8638, Japan
    Br J Dermatol 152:142-5. 2005
    ..The defective gene in BHD has been recently identified and is suspected of being a tumour suppressor gene. Several mutations of the BHD gene have been reported only in Caucasian patients...
  49. ncbi Plectin defects in epidermolysis bullosa simplex with muscular dystrophy
    J R McMillan
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita ku, Sapporo 060 8638, Japan
    Muscle Nerve 35:24-35. 2007
    ..We conclude that fiber-specific plectin expression is associated with the desmin-cytoskeleton, Z-lines, and crucially myocyte membrane linkage, analogous to hemidesmosomes in skin...
  50. ncbi Hair follicle stem cell-targeted gene transfer and reconstitution system
    Y Sugiyama-Nakagiri
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo 060 8638, Japan
    Gene Ther 13:732-7. 2006
    ..In addition, transgene expression was observed for at least 6 months. This HF stem cell-targeted gene transfer and reconstitution system provides reliable gene-function analysis and gene therapy...
  51. pmc Bone marrow transplantation restores epidermal basement membrane protein expression and rescues epidermolysis bullosa model mice
    Yasuyuki Fujita
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo 060 8638, Japan
    Proc Natl Acad Sci U S A 107:14345-50. 2010
    ..The current conventional BMT techniques have significant potential as a systemic therapeutic approach for the treatment of human EB...
  52. ncbi Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations
    M Kono
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Allergy 69:537-40. 2014
    ....
  53. ncbi Bacterial infection-induced generalized Hailey-Hailey disease successfully treated by etretinate
    M Mashiko
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Clin Exp Dermatol 31:57-9. 2006
    ..The present case suggests that oral etretinate is effective against the generalized eruptions even in cases in which bacterial infection has triggered the generalization of HHD...
  54. ncbi Direct injection of plasmid DNA into the skin induces dermatitis by activation of monocytes through toll-like receptor 9
    D Sawamura
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Gene Med 7:664-71. 2005
    ..Towards the clinical use of this method, this study examined whether the application of plasmid DNA by direct injection induces any adverse skin effects...
  55. ncbi Gap junction development in the human fetal hair follicle and bulge region
    K Arita
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, Sapporo 060 8638, Japan
    Br J Dermatol 150:429-34. 2004
    ..The Cx expression pattern and formation of gap junctions in human fetal hair follicles has yet to be clarified, including the prominent follicular bulge region that is believed to be a site rich in stem cells...
  56. ncbi Changing pattern of deiminated proteins in developing human epidermis
    Yukiko Tsuji
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Invest Dermatol 120:817-22. 2003
    ..These results demonstrate an orderly formation of deiminated proteins in different layers of embryonic epidermis and suggest important roles for peptidylarginine deiminases in human epidermal morphogenesis...
  57. doi Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan
    Toshifumi Nomura
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Invest Dermatol 128:1436-41. 2008
    ..57, 95% CI 2.84-23.03). These data emphasize that skin-barrier impairment due to reduced filaggrin expression plays an important role in the pathogenesis of AD and sheds further light on the genetic architecture of atopy in Japan...
  58. pmc Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation
    Kei Ito
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita ku, Sapporo, Japan
    Am J Pathol 175:2508-17. 2009
    ..This model has great potential for future research into the pathomechanisms of dystrophic epidermolysis bullosa and the development of gene therapies for patients with dystrophic epidermolysis bullosa...
  59. ncbi Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes
    Kaori Sakai
    Department of Dermatology, Hokkaido University Graduate School of Medicine, N15 W7, Sapporo 060 8638, Japan
    Exp Dermatol 16:920-6. 2007
    ..These results indicate that ABCA12 plays an important role in lipid transport from the Golgi apparatus to LG in human granular layer keratinocytes...
  60. pmc Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis
    Yasuko Yamanaka
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Am J Pathol 171:43-52. 2007
    ....
  61. doi Malignant skin tumours in patients with inherited ichthyosis
    K Natsuga
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Sapporo 060 8638, Japan
    Br J Dermatol 165:263-8. 2011
    ..As patients with these particular subtypes of ichthyosis seem to be prone to skin malignancies, including SCC, at an unusually young age, routine cancer surveillance of these patients is strongly recommended...
  62. ncbi Childhood epidermolysis bullosa acquisita with autoantibodies against the noncollagenous 1 and 2 domains of type VII collagen: case report and review of the literature
    M Mayuzumi
    Department of Dermatology, Hokkaido University Graduate School of Medicine, N15 W7, Sapporo 060 8638, Japan
    Br J Dermatol 155:1048-52. 2006
    ....
  63. ncbi Expression of transglutaminase activity in developing human epidermis
    M Akiyama
    Department of Dermatology, Teikyo University School of Medicine, Ichihara Hospital, Chiba, Japan
    Br J Dermatol 142:223-5. 2000
    ..This unique localization of TGase activity further support the hypothesis that periderm cells form cornified cell envelope during their regression process in human fetal skin development...
  64. ncbi PDGF isoforms induce and maintain anagen phase of murine hair follicles
    Y Tomita
    Department of Dermatology, Hokkaido University Graduate School of Medicine, N15 W7 Sapporo 060 8638, Japan
    J Dermatol Sci 43:105-15. 2006
    ..It is known that platelet-derived growth factor (PDGF) receptors are expressed in hair follicle (HF) epithelium...
  65. ncbi Two cases of atypical melanocytic lesions in recessive dystrophic epidermolysis bullosa infants
    K Natsuga
    Department of Dermatology, Hokkaido University Graduate School of Medicine, and Department of Dermatology, Sapporo City General Hospital, Sapporo, Japan
    Clin Exp Dermatol 30:636-9. 2005
    ..AtML may easily be misdiagnosed as malignant melanoma and, even in infant patients with RDEB, this should be included as one of the differential diagnosis of pigmented lesions...
  66. ncbi Two cases of atypical membranous aplasia cutis with hair collar sign: one with dermal melanocytosis, and the other with naevus flammeus
    Y Fujita
    Department of Plastic Surgery, Hakodate Central General Hospital, Hakodate, Japan
    Clin Exp Dermatol 30:497-9. 2005
    ..The changes in the present cases, as well as the hair collar sign may suggest a complex hamartomatous nature of membranous aplasia cutis...
  67. ncbi Identification of COL7A1 alternative splicing inserting 9 amino acid residues into the fibronectin type III linker domain
    Daisuke Sawamura
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Invest Dermatol 120:942-8. 2003
    ..To the best of our knowledge, this is the first evidence of alternative splice insertion of a small peptide into the linker region of the fibronectin type III domains, a common motif within modular proteins...
  68. ncbi Ultrastructural orientation of laminin 5 in the epidermal basement membrane: an updated model for basement membrane organization
    James R McMillan
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Histochem Cytochem 51:1299-306. 2003
    ....
  69. ncbi Colocalization of multiple laminin isoforms predominantly beneath hemidesmosomes in the upper lamina densa of the epidermal basement membrane
    James R McMillan
    Creative Research Initiative Sousei, Hokkaido University Graduate School of Medicine, Kita ku, Sapporo 060 8638, Japan
    J Histochem Cytochem 54:109-18. 2006
    ..This suggests that laminin-10-associated chains have specific functions or molecular interactions beneath HDs in the epidermal basement membrane...
  70. ncbi Alterations 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
    James R McMillan
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Invest Dermatol 121:96-103. 2003
    ..These findings attest to the molecular recruiting and stabilizing roles of PkP1 in desmosome formation, particularly in the LSB compartment...
  71. ncbi Stratum corneum hydration and flexibility are useful parameters to indicate clinical severity of congenital ichthyosis
    Yuki Tomita
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Exp Dermatol 14:619-24. 2005
    ..We conclude that stratum corneum hydration, flexibility and thickness measured by the corneometer, and TEWL on the arm may be a useful indicator of the severity of ichthyosis phenotype...
  72. ncbi Erythrokeratoderma variabilis without connexin 31 or connexin 30.3 gene mutation: immunohistological, ultrastructural and genetic studies
    Ken Arita
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, Sapporo 060 8638, Japan
    Acta Derm Venereol 83:266-70. 2003
    ..1 genes in this patient. The results indicate that erythrokeratoderma variabilis is pathologically heterogeneous, and that abnormalities in keratinization other than Cx30.3 and 31 gene mutations may underlie some forms of this disease...
  73. ncbi Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1
    Ken Natsuga
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Invest Dermatol 125:154-8. 2005
    ..Thus, ultrastructural analysis of nevus cells may be an additional diagnostic tool for HPS1 and could give us important clues to further understanding of the pathomechanisms of HPS...
  74. ncbi Current advances in gene therapy for the treatment of genodermatoses
    Heather A Long
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita ku, Sapporo 060 8638, Japan
    Curr Gene Ther 9:487-94. 2009
    ..With the continuing development, merger and refinement of existing techniques there is an ever increasing likelihood of gene therapies becoming available for the more severe genodermatoses within the next decade or shortly thereafter...
  75. doi High expression of Ki-67 and cyclin D1 in invasive extramammary Paget's disease
    Satoru Aoyagi
    Department of Dermatology, Hokkaido University Graduate School of Medicine, N15 W7 Kita ku, Sapporo, Hokkaido 060 8638, Japan
    J Dermatol Sci 50:177-84. 2008
    ..Several clinical studies have proposed mechanisms underlying the increased invasiveness of EMPD; however, molecular markers indicative of the invasiveness have yet to be well characterized...
  76. doi DNA-based prenatal exclusion of harlequin ichthyosis
    Teruki Yanagi
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Am Acad Dermatol 58:653-6. 2008
    ..We performed PND by direct sequence analysis and restriction enzyme digestion analysis using fetal genomic DNA from amniotic fluid cells at 16 weeks' gestation. This study demonstrates the efficacy of early DNA-based exclusion of HI...
  77. doi Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects
    Teruki Yanagi
    Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Kita ku, Sapporo 060 8638, Japan
    Hum Mol Genet 17:3075-83. 2008
    ..Our HI model mice reproduce the human HI skin phenotype soon after the initiation of fetal skin keratinization and provide evidence that ABCA12 plays pivotal roles in lung and skin barrier functions...
  78. ncbi COL7A1 mutation G2037E causes epidermal retention of type VII collagen
    Daisuke Sawamura
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, 060 8638, Sapporo, Japan
    J Hum Genet 51:418-23. 2006
    ..This study furthers our understanding of GS COL7A1 mutations in DEB...
  79. doi Response of intractable skin ulcers in recessive dystrophic epidermolysis bullosa patients to an allogeneic cultured dermal substitute
    Ken Natsuga
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Acta Derm Venereol 90:165-9. 2010
    ..In conclusion, CDS is a promising modality for treatment of intractable skin ulcers in patients with RDEB, even though it does not appear to increase COL7 expression...
  80. pmc A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26
    Ken Arita
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, Sapporo 060 8638, Japan
    Am J Pathol 169:416-23. 2006
    ....
  81. ncbi Changes in gap junction distribution and connexin expression pattern during human fetal skin development
    Ken Arita
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Histochem Cytochem 50:1493-500. 2002
    ..Furthermore, the changing patterns of connexin expression suggest that Cx26 is important for early fetal epidermal development...
  82. ncbi Nail dystrophy and blisters as sole manifestations in myeloma-associated amyloidosis
    Yasuyuki Fujita
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Am Acad Dermatol 54:712-4. 2006
    ..This report documents these two rare signs of systemic amyloidosis and demonstrates the precise location of cutaneous blister formation and amyloid deposition by fluorescence antigen mapping and electron microscopy...
  83. ncbi Small-diameter porous poly (epsilon-caprolactone) films enhance adhesion and growth of human cultured epidermal keratinocyte and dermal fibroblast cells
    James R McMillan
    Department of Dermatology, Hokkaido University, Graduate School of Medicine, Sapporo, Japan
    Tissue Eng 13:789-98. 2007
    ..These characteristics are considered important in developing grafts for use in the treatment of human skin wounds...
  84. ncbi Epidermolysis bullosa: directions for future research and new challenges for treatment
    Daisuke Sawamura
    Department of Dermatology, Hokkaido University Graduate School of Medicine, N15 West 7, Kita ku, 060 8638 Sapporo, Japan
    Arch Dermatol Res 295:S34-42. 2003
  85. ncbi Epidermal basement membrane zone components: ultrastructural distribution and molecular interactions
    James R McMillan
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita ku, Sapporo 060 8638, Japan
    J Dermatol Sci 31:169-77. 2003
    ..We summarize some of the recent advances in the understanding of the biology and interactions of BMZ components from an ultrastructural and molecular perspective...
  86. ncbi Upregulation of P-cadherin expression in the lesional skin of pemphigus, Hailey-Hailey disease and Darier's disease
    M Hakuno
    Department of Dermatology, Keio University School of Medicine, Tokyo, Japan
    J Cutan Pathol 28:277-81. 2001
    ..The purpose of the present study was to determine whether altered P-cadherin expression is present in these diseases...
  87. doi Pyoderma gangrenosum of the eyelid: report of two cases and review of the literature
    N Saito
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Dermatology 221:211-5. 2010
    ....
  88. ncbi Direct injection of naked DNA and cytokine transgene expression: implications for keratinocyte gene therapy
    D Sawamura
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Clin Exp Dermatol 27:480-4. 2002
    ..In humans, keratinocyte gene therapy using the cytokine gene DNA injection method has the potential to become a powerful therapeutic tool for dermatologists in the management of certain inflammatory and other dermatoses...
  89. ncbi Drug eruptions to contrast media in Japan
    T Nakada
    Department of Dermatology, Showa University School of Medicine, Hatanodai, Tokyo, Japan
    Clin Exp Dermatol 31:361-4. 2006
    ..In Japan, drug eruptions to nonionic iodinated contrast media have been reported since the products appeared on the market in 1986...
  90. ncbi Collagen XVII participates in keratinocyte adhesion to collagen IV, and in p38MAPK-dependent migration and cell signaling
    Hongjiang Qiao
    Creative Research Initiative, Hokkaido University, Sapporo, Japan
    J Invest Dermatol 129:2288-95. 2009
    ....
  91. ncbi Correlation of clinical severity and ELISA indices for the NC16A domain of BP180 measured using BP180 ELISA kit in bullous pemphigoid
    Yukiko Tsuji-Abe
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita ku, Sapporo 060 8638, Japan
    J Dermatol Sci 37:145-9. 2005
    ..Recently, an enzyme-linked immunosorbent assay (ELISA) kit using the NC16A domain recombinant protein (BP180 ELISA kit) has become commercially available to measure the quantities of pathogenic autoantibodies circulating in BP patients...
  92. doi Glycosylation specific for adhesion molecules in epidermis and its receptor revealed by glycoform-focused reverse genomics
    Rie Uematsu
    Graduate School of Advanced Life Science, Hokkaido University, Sapporo, Japan
    Mol Cell Proteomics 8:232-44. 2009
    ..Comparative glycomics revealed that the GalNAcbeta1-4GlcNAc (N,N'-diacetyllactosediamine) epitope, instead of the Galalpha1-3Gal epitope, was highly expressed in human epidermis...
  93. pmc Type XVII collagen is a key player in tooth enamel formation
    Takuya Asaka
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Am J Pathol 174:91-100. 2009
    ..In conclusion, COL17 deficiency disrupts the epithelial-mesenchymal interactions, leading to both defective ameloblast differentiation and enamel malformation...
  94. ncbi DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings
    Yukiko Tsuji-Abe
    Department of Dermatology at Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Am Acad Dermatol 51:1008-11. 2004
    ....
  95. ncbi Darier's disease restricted to sun-exposed areas
    M Kimoto
    Department of Dermatology, Teikyo University School of Medicine, Ichihara Hospital, 3426 3 Anesaki, Ichihara, Chiba 299 0111, Japan
    Clin Exp Dermatol 29:37-9. 2004
    ....
  96. doi Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009
    Vinzenz Oji
    Department of Dermatology, University Hospital Munster, Munster, Germany
    J Am Acad Dermatol 63:607-41. 2010
    ..Over the recent years, much progress has been made defining their molecular causes. However, there is no internationally accepted classification and terminology...
  97. doi A novel active mouse model for bullous pemphigoid targeting humanized pathogenic antigen
    Hideyuki Ujiie
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Immunol 184:2166-74. 2010
    ....
  98. doi Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis
    Satoru Shinkuma
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Hum Mutat 31:602-10. 2010
    ..These results suggest defective activation of P2Y5 due to reduced 2-acyl lysophosphatidic acid production by the mutant PA-PLA(1)alpha is involved in the pathogenesis of ARH...
  99. ncbi Humanization of autoantigen
    Wataru Nishie
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo 060 8638, Japan
    Nat Med 13:378-83. 2007
    ..This resulted in BP-like skin lesions and a human disease phenotype. Humanization of autoantigens is a new approach to the study of human autoimmune diseases...
  100. ncbi Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis
    Akiko Tsubota
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Invest Dermatol 127:1371-4. 2007
    ..Val175_Lys196del in the H1 and 1A domains of K1. To our knowledge, the present patient is the first reported case of epidermal nevus associated with EH caused by a K1 gene mutation in a mosaic pattern...
  101. ncbi Low-grade myxofibrosarcoma invaded into the underlying skeletal muscle
    Natsuki Motoda
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Dermatol 34:561-4. 2007
    ..The present case clearly indicated that a low-grade myxofibrosarcoma can invade into the deeper tissues including muscle even though its histological grade is very low...