FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Masashi Akiyama

Research Profile

Disorders

Anatomy

Physiology

Procedures

DNA Mutational Analysis

Chemicals & Drugs

Living Beings

Mouse

Concepts & Ideas

Pedigree

Co-author Network

Publications

TOP 3
Y Nomura; Y Ohguchi; Kaori Sakai; K Sasaki; R Abe; Masashi Akiyama; S Aoyagi; H Hata; Y Itaya; O Mizuno; T Nomura; Hiroshi Shimizu
A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa.
Hiroko Umemoto; Motohiro Uo; Satoru Shinkuma; Jouni Uitto; Masashi Akiyama; Takuya Asaka; Takanori Domon; Kei Ito; Yoshimasa Kitagawa; Toshifumi Nomura; Daisuke Sawamura; Hiroshi Shimizu
Type VII collagen deficiency causes defective tooth enamel formation due to poor differentiation of ameloblasts.
Satoru Shinkuma; Hideyuki Ujiie; Riichiro Abe; Masashi Akiyama; Junken Aoki; Asuka Inoue; Ken Natsuga; Wataru Nishie; Toshifumi Nomura; Hiroshi Shimizu
The β9 loop domain of PA-PLA1α has a crucial role in autosomal recessive woolly hair/hypotrichosis.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Masashi Akiyama (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Y Nomura; Y Ohguchi; Kaori Sakai; K Sasaki; R Abe; Masashi Akiyama; S Aoyagi; H Hata; Y Itaya; O Mizuno; T Nomura; Hiroshi Shimizu
A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa.
The British journal of dermatology 2013;168(1):206-9.
2012: Hiroko Umemoto; Motohiro Uo; Satoru Shinkuma; Jouni Uitto; Masashi Akiyama; Takuya Asaka; Takanori Domon; Kei Ito; Yoshimasa Kitagawa; Toshifumi Nomura; Daisuke Sawamura; Hiroshi Shimizu
Type VII collagen deficiency causes defective tooth enamel formation due to poor differentiation of ameloblasts.
The American journal of pathology 2012;181(5):1659-71.
2012: Satoru Shinkuma; Hideyuki Ujiie; Riichiro Abe; Masashi Akiyama; Junken Aoki; Asuka Inoue; Ken Natsuga; Wataru Nishie; Toshifumi Nomura; Hiroshi Shimizu
The β9 loop domain of PA-PLA1α has a crucial role in autosomal recessive woolly hair/hypotrichosis.
The Journal of investigative dermatology 2012;132(8):2093-5.
2012: Ken Natsuga; Wataru Nishie; M Setoyama; Masashi Akiyama; N Chosa; M Kanda; Y Narita; S Shinkuma; Y Suzuki; Hiroshi Shimizu
Possible modifier effects of keratin 17 gene mutation on keratitis-ichthyosis-deafness syndrome.
The British journal of dermatology 2012;166(4):903-5.
2012: Kaori Sasaki; Megumi Sato; Masashi Akiyama; Yuki Miyamura; Kaori Sakai; Teruki Yanagi; Hiroshi Shimizu
CYP4F22 is highly expressed at the site and timing of onset of keratinization during skin development.
Journal of dermatological science 2012;65(2):156-8.
2011: Teruki Yanagi; Shinya Tanaka; Masashi Akiyama; Yuki Miyamura; Hiroshi Nishihara; Kaori Sakai; Hiroshi Shimizu
AKT has an anti-apoptotic role in ABCA12-deficient keratinocytes.
The Journal of investigative dermatology 2011;131(9):1942-5.
2011: Ken Natsuga; Wataru Nishie; Naoki Oiso; David A D Parry; Satoru Shinkuma; Brian J Smith; Thomasin A Smith; Kozo Yoneda; Masashi Akiyama; Akira Kawada; Hiroshi Shimizu
Consequences of two different amino-acid substitutions at the same codon in KRT14 indicate definitive roles of structural distortion in epidermolysis bullosa simplex pathogenesis.
The Journal of investigative dermatology 2011;131(9):1869-76.
2011: Ken Natsuga; Masashi Akiyama; Hiroshi Shimizu
Malignant skin tumours in patients with inherited ichthyosis.
The British journal of dermatology 2011;165(2):263-8.
2011: Rinko Osawa; Masashi Akiyama; Kentaro Izumi; Hideyuki Ujiie; Kaori Sakai; Ikue Nemoto-Hasebe; Teruki Yanagi; H Koizumi; Hiroshi Shimizu
Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation.
Journal of the American Academy of Dermatology 2011;64(5):991-3.
2011: Kazuhiro Kikuchi; Ken Arita; Yasuki Tateishi; Masahiro Onozawa; Masashi Akiyama; Hiroshi Shimizu
Recurrence of hydroxyurea-induced leg ulcer after discontinuation of treatment.
Acta dermato-venereologica 2011;91(3):373-4.
2011: Rinko Osawa; Masashi Akiyama; Hiroshi Shimizu
Filaggrin gene defects and the risk of developing allergic disorders.
Allergology international : official journal of the Japanese Society of Allergology 2011;60(1):1-9.
2011: H Umemoto; Masashi Akiyama; T Yanagi; Kaori Sakai; Y Aoyama; A Oizumi; Y Suga; Y Kitagawa; Hiroshi Shimizu
New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis.
Journal of dermatological science 2011;61(2):136-9.
2011: H-Y Lin; T Yanagi; Masashi Akiyama; M M Iitani; R Moriuchi; Ken Natsuga; S Shinkuma; N Yamane; D Inokuma; Ken Arita; Hiroshi Shimizu
Childhood subepidermal blistering disease with autoantibodies to type VII collagen and laminin-332.
The British journal of dermatology 2011;164(2):452-4.
2010: Rinko Osawa; Satoshi Konno; Masashi Akiyama; Ikue Nemoto-Hasebe; Toshifumi Nomura; Yukiko Nomura; Riichiro Abe; Aileen Sandilands; W H Irwin McLean; Nobuyuki Hizawa; Masaharu Nishimura; Hiroshi Shimizu
Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma.
The Journal of investigative dermatology 2010;130(12):2834-6.
2010: Ken Natsuga; Wataru Nishie; Ken Arita; Satoru Shinkuma; Hideki Nakamura; Shogo Kubota; Sumihisa Imakado; Masashi Akiyama; Hiroshi Shimizu
Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia.
The Journal of investigative dermatology 2010;130(11):2671-4.
2010: Masashi Akiyama
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.
Human mutation 2010;31(10):1090-6.
2010: Kaori Sakai; Masashi Akiyama; Teruki Yanagi; Sheela Nampoothiri; Tony Mampilly; V Sunitha; Hiroshi Shimizu
An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.
International journal of dermatology 2010;49(9):1031-3.
2010: Yukiko Nomura; Masashi Akiyama; Toshifumi Nomura; Ikue Nemoto-Hasebe; Riichiro Abe; W H Irwin McLean; Hiroshi Shimizu
Chromosome 11q13.5 variant: No association with atopic eczema in the Japanese population.
Journal of dermatological science 2010;59(3):210-2.
2010: Yasuyuki Fujita; Riichiro Abe; Daisuke Inokuma; Mikako Sasaki; Daichi Hoshina; Ken Natsuga; Wataru Nishie; James R McMillan; Hideki Nakamura; Tadamichi Shimizu; Masashi Akiyama; Daisuke Sawamura; Hiroshi Shimizu
Bone marrow transplantation restores epidermal basement membrane protein expression and rescues epidermolysis bullosa model mice.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(32):14345-50.
2010: Masashi Akiyama; Kaori Sakai; T Yanagi; N Tabata; M Yamada; Hiroshi Shimizu
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.
The British journal of dermatology 2010;163(1):201-4.
2010: Satoru Shinkuma; Masashi Akiyama; Asuka Inoue; Junken Aoki; Ken Natsuga; Toshifumi Nomura; Ken Arita; Riichiro Abe; Kei Ito; Hideki Nakamura; Hideyuki Ujiie; Akihiko Shibaki; Hiraku Suga; Yuichiro Tsunemi; Wataru Nishie; Hiroshi Shimizu
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.
Human mutation 2010;31(5):602-10.
2010: Masashi Akiyama; Kaori Sakai; Teruki Yanagi; Satoshi Fukushima; Hironobu Ihn; Kiyotaka Hitomi; Hiroshi Shimizu
Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis.
The American journal of pathology 2010;176(4):1592-9.
2010: Hideyuki Ujiie; Akihiko Shibaki; Masashi Akiyama; Hiroshi Shimizu
Successful treatment of nail lichen planus with topical tacrolimus.
Acta dermato-venereologica 2010;90(2):218-9.
2010: Ken Natsuga; Daisuke Sawamura; Maki Goto; Erina Homma; Yuka Goto-Ohguchi; Satoru Aoyagi; Masashi Akiyama; Yoshimitsu Kuroyanagi; Hiroshi Shimizu
Response of intractable skin ulcers in recessive dystrophic epidermolysis bullosa patients to an allogeneic cultured dermal substitute.
Acta dermato-venereologica 2010;90(2):165-9.
2010: Ken Natsuga; Wataru Nishie; Masashi Akiyama; Hideki Nakamura; Satoru Shinkuma; James R McMillan; Akari Nagasaki; Cristina Has; Takeshi Ouchi; Akira Ishiko; Yoshiaki Hirako; Katsushi Owaribe; Daisuke Sawamura; Leena Bruckner-Tuderman; Hiroshi Shimizu
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.
Human mutation 2010;31(3):308-16.
2010: Masashi Akiyama
FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics.
The British journal of dermatology 2010;162(3):472-7.
2010: Hideyuki Ujiie; Akihiko Shibaki; Wataru Nishie; Daisuke Sawamura; Gang Wang; Yasuki Tateishi; Qiang Li; Reine Moriuchi; Hongjiang Qiao; Hideki Nakamura; Masashi Akiyama; Hiroshi Shimizu
A novel active mouse model for bullous pemphigoid targeting humanized pathogenic antigen.
Journal of immunology (Baltimore, Md. : 1950) 2010;184(4):2166-74.
2010: N Saito; T Yanagi; Masashi Akiyama; H Y Lin; S Kasai; Yasuyuki Fujita; N Yamane; D Inokuma; S Kase; K Ono; H Minakawa; Hiroshi Shimizu
Pyoderma gangrenosum of the eyelid: report of two cases and review of the literature.
Dermatology (Basel, Switzerland) 2010;221(3):211-5.
2009: Kei Ito; Daisuke Sawamura; Maki Goto; Hideki Nakamura; Wataru Nishie; Kaori Sakai; Ken Natsuga; Satoru Shinkuma; Akihiko Shibaki; Jouni Uitto; Christopher P Denton; Osamu Nakajima; Masashi Akiyama; Hiroshi Shimizu
Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation.
The American journal of pathology 2009;175(6):2508-17.
2009: Heather A Long; James R McMillan; Hongjiang Qiao; Masashi Akiyama; Hiroshi Shimizu
Current advances in gene therapy for the treatment of genodermatoses.
Current gene therapy 2009;9(6):487-94.
2009: I Nemoto-Hasebe; Masashi Akiyama; T Nomura; Aileen Sandilands; W H I McLean; Hiroshi Shimizu
FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema.
The British journal of dermatology 2009;161(6):1387-90.
2009: C-K Hsu; Masashi Akiyama; I Nemoto-Hasebe; T Nomura; Aileen Sandilands; S-C Chao; J Y-Y Lee; H-M Sheu; W H I McLean; Hiroshi Shimizu
Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations.
The British journal of dermatology 2009;161(2):448-51.
2009: I Nemoto-Hasebe; Masashi Akiyama; S Kudo; A Ishiko; A Tanaka; Ken Arita; Hiroshi Shimizu
Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.
The British journal of dermatology 2009;161(2):452-5.
2009: Ken Arita; Riichiro Abe; Keiko Baba; John A McGrath; Masashi Akiyama; Hiroshi Shimizu
A novel OSMR mutation in familial primary localized cutaneous amyloidosis in a Japanese family.
Journal of dermatological science 2009;55(1):64-5.
2009: Masashi Akiyama; K Sakai; K Hayasaka; N Tabata; M Yamada; H Ujiie; Akihiko Shibaki; Hiroshi Shimizu
Conradi-Hünermann-Happle syndrome with abnormal lamellar granule contents.
The British journal of dermatology 2009;160(6):1335-7.
2009: Ikue Nemoto-Hasebe; Masashi Akiyama; Toshifumi Nomura; Aileen Sandilands; W H Irwin McLean; Hiroshi Shimizu
Clinical severity correlates with impaired barrier in filaggrin-related eczema.
The Journal of investigative dermatology 2009;129(3):682-9.
2009: Yukiko Nomura; Masashi Akiyama; Wataru Nishie; Hiroshi Shimizu
Progressive refractory ulcer of the nipple: a quiz.
Acta dermato-venereologica 2009;89(4):445-6.
2009: Y Goto-Ohguchi; Wataru Nishie; Masashi Akiyama; Y Tateishi; S Aoyagi; Yukiko Tsuji-Abe; Daisuke Sawamura; N Ishii; T Hashimoto; Hiroshi Shimizu
A severe and refractory case of anti-p200 pemphigoid resulting in multiple skin ulcers and scar formation.
Dermatology (Basel, Switzerland) 2009;218(3):265-71.
2009: Takuya Asaka; Masashi Akiyama; Takanori Domon; Wataru Nishie; Ken Natsuga; Yasuyuki Fujita; Riichiro Abe; Yoshimasa Kitagawa; Hiroshi Shimizu
Type XVII collagen is a key player in tooth enamel formation.
The American journal of pathology 2009;174(1):91-100.
2008: Masashi Akiyama; Kaori Sakai; Chitoshi Takayama; Teruki Yanagi; Yasuko Yamanaka; James R McMillan; Hiroshi Shimizu
CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes.
The American journal of pathology 2008;173(5):1349-60.
2008: Teruki Yanagi; Masashi Akiyama; Hiroshi Nishihara; Kaori Sakai; Wataru Nishie; Shinya Tanaka; Hiroshi Shimizu
Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects.
Human molecular genetics 2008;17(19):3075-83.
2008: Satoru Shinkuma; Ken Natsuga; Masashi Akiyama; Akari Saito; Wataru Saito; Shuichi Ota; Takeshi Kondo; Riichiro Abe; Kazuo Kodama; Hiroshi Shimizu
Precursor B-cell lymphoblastic lymphoma presented with intraocular involvement and unusual skin manifestations.
Annals of hematology 2008;87(8):677-9.
2008: Akiko Tsubota; Masashi Akiyama; Jean Kanitakis; Kaori Sakai; Toshifumi Nomura; Alain Claudy; Hiroshi Shimizu
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation.
The Journal of investigative dermatology 2008;128(7):1648-52.
2008: Satoru Aoyagi; Masashi Akiyama; Hiroshi Shimizu
High expression of Ki-67 and cyclin D1 in invasive extramammary Paget's disease.
Journal of dermatological science 2008;50(3):177-84.
2008: Toshifumi Nomura; Masashi Akiyama; Aileen Sandilands; Ikue Nemoto-Hasebe; Kaori Sakai; Akari Nagasaki; Mitsuhito Ota; Hiroo Hata; Alan T Evans; Colin N A Palmer; Hiroshi Shimizu; W H Irwin McLean
Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan.
The Journal of investigative dermatology 2008;128(6):1436-41.
2008: Masashi Akiyama; Hiroshi Shimizu
An update on molecular aspects of the non-syndromic ichthyoses.
Experimental dermatology 2008;17(5):373-82.
2008: Teruki Yanagi; Masashi Akiyama; Kaori Sakai; Akari Nagasaki; Nobuaki Ozawa; Rika Kosaki; Haruhiko Sago; Hiroshi Shimizu
DNA-based prenatal exclusion of harlequin ichthyosis.
Journal of the American Academy of Dermatology 2008;58(4):653-6.
2008: S Aoyagi; Masashi Akiyama; M Mashiko; Akihiko Shibaki; Hiroshi Shimizu
Extensive proliferative nodules in a case of giant congenital naevus.
Clinical and experimental dermatology 2008;33(2):125-7.
2008: Ikue Nemoto-Hasebe; Masashi Akiyama; Nanako Yamada; Yoshitsugu Inoue; Chizu Touge; Hiroshi Shimizu
Keratitis-ichthyosis-deafness syndrome lacking subjective hearing impairment.
Acta dermato-venereologica 2008;88(4):406-8.
2008: Ikue Nemoto-Hasebe; Masashi Akiyama; Rinko Osawa; Hiroyuki Nakamura; Hiroshi Shimizu
Diagnosis of Hailey-Hailey disease facilitated by DNA testing: a novel mutation in ATP2C1.
Acta dermato-venereologica 2008;88(4):399-400.
2008: A Tsubota; Masashi Akiyama; K Sakai; T Yanagi; James R McMillan; A Higashi; Hiroshi Shimizu
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens.
The British journal of dermatology 2008;158(1):191-4.
2007: Masashi Akiyama; Kaori Sakai; Masaya Ogawa; James R McMillan; Daisuke Sawamura; Hiroshi Shimizu
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.
Muscle & nerve 2007;36(6):856-9.
2007: Edit B Olasz; Jooyoung Roh; Carole L Yee; Ken Arita; Masashi Akiyama; Hiroshi Shimizu; Jonathan C Vogel; Kim B Yancey
Human bullous pemphigoid antigen 2 transgenic skin elicits specific IgG in wild-type mice.
The Journal of investigative dermatology 2007;127(12):2807-17.
2007: Kaori Sakai; Masashi Akiyama; Yoriko Sugiyama-Nakagiri; James R McMillan; Daisuke Sawamura; Hiroshi Shimizu
Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes.
Experimental dermatology 2007;16(11):920-6.
2007: Ken Natsuga; Masashi Akiyama; Naoko Kato; Kaori Sakai; Yoriko Sugiyama-Nakagiri; Machiko Nishimura; Hiroo Hata; Masataka Abe; Ken Arita; Yukiko Tsuji-Abe; Takashi Onozuka; Satoru Aoyagi; Kazuo Kodama; Hideyuki Ujiie; Yuki Tomita; Hiroshi Shimizu
Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia.
The Journal of investigative dermatology 2007;127(11):2669-73.
2007: Daichi Hoshina; Daisuke Sawamura; T Nomura; S Tanimura; M Abe; Takashi Onozuka; K Kodama; Masashi Akiyama; Hiroshi Shimizu
Epidermolysis bullosa acquisita associated with psoriasis vulgaris.
Clinical and experimental dermatology 2007;32(5):516-8.
2007: Natsuki Motoda; Masashi Akiyama; Satoru Aoyagi; Daisuke Sawamura; Hiroshi Shimizu
Low-grade myxofibrosarcoma invaded into the underlying skeletal muscle.
The Journal of dermatology 2007;34(8):561-4.
2007: Yasuko Yamanaka; Masashi Akiyama; Yoriko Sugiyama-Nakagiri; Kaori Sakai; Maki Goto; James R McMillan; Mitsuhito Ota; Daisuke Sawamura; Hiroshi Shimizu
Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis.
The American journal of pathology 2007;171(1):43-52.
2007: Akiko Tsubota; Masashi Akiyama; Kaori Sakai; Maki Goto; Yukiko Nomura; Satomi Ando; Masataka Abe; Daisuke Sawamura; Hiroshi Shimizu
Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis.
The Journal of investigative dermatology 2007;127(6):1371-4.
2007: James R McMillan; Masashi Akiyama; Masaru Tanaka; Sadaki Yamamoto; Maki Goto; Riichiro Abe; Daisuke Sawamura; Masatsugu Shimomura; Hiroshi Shimizu
Small-diameter porous poly (epsilon-caprolactone) films enhance adhesion and growth of human cultured epidermal keratinocyte and dermal fibroblast cells.
Tissue engineering 2007;13(4):789-98.
2007: Wataru Nishie; Daisuke Sawamura; Maki Goto; Kei Ito; Akihiko Shibaki; James R McMillan; Kaori Sakai; Hideki Nakamura; Edit B Olasz; Kim B Yancey; Masashi Akiyama; Hiroshi Shimizu
Humanization of autoantigen.
Nature medicine 2007;13(3):378-83.
2007: Masashi Akiyama; Matthias Titeux; Kaori Sakai; James R McMillan; Laure Tonasso; Patrick Calvas; Frederique Jossic; Alain Hovnanian; Hiroshi Shimizu
DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences.
The Journal of investigative dermatology 2007;127(3):568-73.
2007: Toshifumi Nomura; Aileen Sandilands; Masashi Akiyama; Haihui Liao; Alan T Evans; Kaori Sakai; Mitsuhito Ota; Hisashi Sugiura; Kazuo Yamamoto; Hiroshi Sato; Colin N A Palmer; Frances J D Smith; W H Irwin McLean; Hiroshi Shimizu
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis.
The Journal of allergy and clinical immunology 2007;119(2):434-40.
2007: Masashi Akiyama; Kaori Sakai; Toshihiro Sato; James R McMillan; Maki Goto; Daisuke Sawamura; Hiroshi Shimizu
Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.
Dermatology (Basel, Switzerland) 2007;215(2):155-9.
2007: Hiroko Ito; Masashi Akiyama; Hiroaki Nakagawa; Rie Uematsu; Kisaburo Deguchi; James R McMillan; Shin-Ichiro Nishimura; Hiroshi Shimizu
N-linked neutral oligosaccharides in the stratum corneum of normal and ichthyotic skin.
Archives of dermatological research 2007;298(8):403-7.
2007: Daichi Hoshina; Masashi Akiyama; H Hata; S Aoyagi; Kazuko C Sato-Matsumura; Hiroshi Shimizu
Eccrine porocarcinoma and Bowen's disease arising in a seborrhoeic keratosis.
Clinical and experimental dermatology 2007;32(1):54-6.
2007: James R McMillan; Masashi Akiyama; Fatima Rouan; Jemima E Mellerio; E Birgitte Lane; I M Leigh; Katsushi Owaribe; Gerhard Wiche; N Fujii; Jouni Uitto; Robin A J Eady; Hiroshi Shimizu
Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.
Muscle & nerve 2007;35(1):24-35.
2006: Maki Goto; Daisuke Sawamura; Wataru Nishie; Kaori Sakai; James R McMillan; Masashi Akiyama; Hiroshi Shimizu
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.
The Journal of investigative dermatology 2006;126(12):2614-20.
2006: Mariko Mayuzumi; Masashi Akiyama; Wataru Nishie; Susumu Ukae; Masataka Abe; Daisuke Sawamura; T Hashimoto; Hiroshi Shimizu
Childhood epidermolysis bullosa acquisita with autoantibodies against the noncollagenous 1 and 2 domains of type VII collagen: case report and review of the literature.
The British journal of dermatology 2006;155(5):1048-52.
2006: Ken Arita; Masashi Akiyama; Tomoyasu Aizawa; Yoshitaka Umetsu; Ikuo Segawa; Maki Goto; Daisuke Sawamura; Makoto Demura; Keiichi Kawano; Hiroshi Shimizu
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.
The American journal of pathology 2006;169(2):416-23.
2006: Y Tomita; Masashi Akiyama; Hiroshi Shimizu
PDGF isoforms induce and maintain anagen phase of murine hair follicles.
Journal of dermatological science 2006;43(2):105-15.
2006: Masashi Akiyama
Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases.
Archives of dermatology 2006;142(7):914-8.
2006: Masashi Akiyama; Kaori Sakai; Yoriko Sugiyama-Nakagiri; Yasuko Yamanaka; James R McMillan; Daisuke Sawamura; Hironori Niizeki; Sachiko Miyagawa; Hiroshi Shimizu
Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity.
The Journal of investigative dermatology 2006;126(7):1518-23.
2006: Masashi Akiyama
Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
Journal of dermatological science 2006;42(2):83-9.
2006: Yasuyuki Fujita; Yukiko Tsuji-Abe; Kazuko C Sato-Matsumura; Masashi Akiyama; Hiroshi Shimizu
Nail dystrophy and blisters as sole manifestations in myeloma-associated amyloidosis.
Journal of the American Academy of Dermatology 2006;54(4):712-4.
2006: Maki Goto; Daisuke Sawamura; Kei Ito; Masataka Abe; Wataru Nishie; Kaori Sakai; Akihiko Shibaki; Masashi Akiyama; Hiroshi Shimizu
Fibroblasts show more potential as target cells than keratinocytes in COL7A1 gene therapy of dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 2006;126(4):766-72.
2006: Yoriko Sugiyama-Nakagiri; Masashi Akiyama; Hiroshi Shimizu
Hair follicle stem cell-targeted gene transfer and reconstitution system.
Gene therapy 2006;13(8):732-7.
2006: Daisuke Sawamura; Kazuko C Sato-Matsumura; Satoko Shibata; Akari Tashiro; masutaka furue; Maki Goto; Kaori Sakai; Masashi Akiyama; Hideki Nakamura; Hiroshi Shimizu
COL7A1 mutation G2037E causes epidermal retention of type VII collagen.
Journal of human genetics 2006;51(5):418-23.
2006: Yoriko Sugiyama-Nakagiri; Masashi Akiyama; Shinsuke Shibata; Hideyuki Okano; Hiroshi Shimizu
Expression of RNA-binding protein Musashi in hair follicle development and hair cycle progression.
The American journal of pathology 2006;168(1):80-92.
2006: M Mashiko; Masashi Akiyama; Yukiko Tsuji-Abe; Hiroshi Shimizu
Bacterial infection-induced generalized Hailey-Hailey disease successfully treated by etretinate.
Clinical and experimental dermatology 2006;31(1):57-9.
2005: Ken Natsuga; Masashi Akiyama; Kazuko C Sato-Matsumura; K Tsuchiya; Hiroshi Shimizu
Two cases of atypical melanocytic lesions in recessive dystrophic epidermolysis bullosa infants.
Clinical and experimental dermatology 2005;30(6):636-9.
2005: A Shimizu; Masashi Akiyama; A Ishiko; T Yoshiike; K Suzumori; Hiroshi Shimizu
Prenatal exclusion of harlequin ichthyosis; potential pitfalls in the timing of the fetal skin biopsy.
The British journal of dermatology 2005;153(4):811-4.
2005: Yuki Tomita; Masashi Akiyama; Hiroshi Shimizu
Stratum corneum hydration and flexibility are useful parameters to indicate clinical severity of congenital ichthyosis.
Experimental dermatology 2005;14(8):619-24.
2005: Masashi Akiyama; Yoriko Sugiyama-Nakagiri; Kaori Sakai; James R McMillan; Maki Goto; Ken Arita; Yukiko Tsuji-Abe; Nobuko Tabata; Kentaro Matsuoka; Rikako Sasaki; Daisuke Sawamura; Hiroshi Shimizu
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.
The Journal of clinical investigation 2005;115(7):1777-84.
2005: Ken Natsuga; Masashi Akiyama; Tadamichi Shimizu; Tamio Suzuki; Shiro Ito; Yasushi Tomita; Junji Tanaka; Hiroshi Shimizu
Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1.
The Journal of investigative dermatology 2005;125(1):154-8.
2005: Masashi Akiyama; Yukiko Tsuji-Abe; M Yanagihara; K Nakajima; H Kodama; M Yaosaka; Masataka Abe; Daisuke Sawamura; Hiroshi Shimizu
Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.
The British journal of dermatology 2005;152(6):1353-6.
2005: Daisuke Sawamura; Maki Goto; Akihiko Shibaki; Masashi Akiyama; James R McMillan; Y Abiko; Hiroshi Shimizu
Beta defensin-3 engineered epidermis shows highly protective effect for bacterial infection.
Gene therapy 2005;12(10):857-61.
2005: Yukiko Tsuji-Abe; Masashi Akiyama; Yasuko Yamanaka; Toshiro Kikuchi; Kazuko C Sato-Matsumura; Hiroshi Shimizu
Correlation of clinical severity and ELISA indices for the NC16A domain of BP180 measured using BP180 ELISA kit in bullous pemphigoid.
Journal of dermatological science 2005;37(3):145-9.
2005: H Kawasaki; Daisuke Sawamura; H Nakazawa; N Hattori; Maki Goto; Kazuko C Sato-Matsumura; Masashi Akiyama; Hiroshi Shimizu
Detection of 1733insC mutations in an Asian family with Birt-Hogg-Dubé syndrome.
The British journal of dermatology 2005;152(1):142-5.
2004: Wataru Nishie; Masashi Akiyama; Mariko Mayuzumi; Susumu Ukae; Tsutomu Kuroda; Hiroshi Shimizu
A subcutaneous tumor on the forehead of a 12-year-old child: a rare clinical presentation of a frontal mucocele.
Journal of the American Academy of Dermatology 2004;51(6):1030-1.
2004: Yukiko Tsuji-Abe; Masashi Akiyama; Hideki Nakamura; Yasuko Takizawa; Daisuke Sawamura; Kayoko Matsunaga; Kaoru Suzumori; Hiroshi Shimizu
DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings.
Journal of the American Academy of Dermatology 2004;51(6):1008-11.
2004: Ken Arita; Masashi Akiyama; Yukiko Tsuji; James R McMillan; Robin A J Eady; Hiroshi Shimizu
Gap junction development in the human fetal hair follicle and bulge region.
The British journal of dermatology 2004;150(3):429-34.
2004: Yasuko Yamanaka; Masashi Akiyama; Akihiko Shibaki; Toshiro Kikuchi; Hiroshi Shimizu
Annular lichen planus: study of the cellular mechanisms of annularity.
Dermatology (Basel, Switzerland) 2004;208(4):335-8.
2003: Masashi Akiyama; Daisuke Sawamura; Yuko Nomura; Makoto Sugawara; Hiroshi Shimizu
Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome.
The Journal of investigative dermatology 2003;121(5):1029-34.
2003: James R McMillan; Masashi Akiyama; Hiroshi Shimizu
Ultrastructural orientation of laminin 5 in the epidermal basement membrane: an updated model for basement membrane organization.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2003;51(10):1299-306.
2003: James R McMillan; Marek Haftek; Masashi Akiyama; Andrew P South; Henri Perrot; John A McGrath; Robin A J Eady; Hiroshi Shimizu
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.
The Journal of investigative dermatology 2003;121(1):96-103.
2003: Daisuke Sawamura; Maki Goto; Kana Yasukawa; Atsushi Kon; Masashi Akiyama; Hiroshi Shimizu
Identification of COL7A1 alternative splicing inserting 9 amino acid residues into the fibronectin type III linker domain.
The Journal of investigative dermatology 2003;120(6):942-8.
2003: Masashi Akiyama; Daisuke Sawamura; Hiroshi Shimizu
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis.
Clinical and experimental dermatology 2003;28(3):235-40.
2003: James R McMillan; Masashi Akiyama; Hiroshi Shimizu
Epidermal basement membrane zone components: ultrastructural distribution and molecular interactions.
Journal of dermatological science 2003;31(3):169-77.
2003: Yukiko Tsuji; Masashi Akiyama; Ken Arita; Tatsuo Senshu; Hiroshi Shimizu
Changing pattern of deiminated proteins in developing human epidermis.
The Journal of investigative dermatology 2003;120(5):817-22.
2003: Daisuke Sawamura; James R McMillan; Masashi Akiyama; Hiroshi Shimizu
Epidermolysis bullosa: directions for future research and new challenges for treatment.
Archives of dermatological research 2003;295 Suppl 1():S34-42.
2003: Ken Arita; Masashi Akiyama; Yukiko Tsuji; Takashi Onozuka; Hiroshi Shimizu
Erythrokeratoderma variabilis without connexin 31 or connexin 30.3 gene mutation: immunohistological, ultrastructural and genetic studies.
Acta dermato-venereologica 2003;83(4):266-70.
2003: Masashi Akiyama; Y Takizawa; Y Suzuki; Hiroshi Shimizu
A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype.
The British journal of dermatology 2003;148(1):149-53.
2002: Ken Arita; Masashi Akiyama; Yukiko Tsuji; James R McMillan; Robin A J Eady; Hiroshi Shimizu
Changes in gap junction distribution and connexin expression pattern during human fetal skin development.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2002;50(11):1493-500.
2002: Daisuke Sawamura; Masashi Akiyama; Hiroshi Shimizu
Direct injection of naked DNA and cytokine transgene expression: implications for keratinocyte gene therapy.
Clinical and experimental dermatology 2002;27(6):480-4.
2002: Masashi Akiyama; I Matsuo; Hiroshi Shimizu
Formation of cornified cell envelope in human hair follicle development.
The British journal of dermatology 2002;146(6):968-76.