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James McMillan

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John A McGrath; W H Irwin McLean; James R McMillan; Jemima E Mellerio; Rumena Begum; Patricia Dopping-Hepenstal; Lu Liu; Anna E Martinez; Celine Pourreyron; Michael A Simpson; Andrew P South; Kristina L Stone; Maddy Parsons
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.
Satoru Shinkuma; James R McMillan; Hiroshi Shimizu
Ultrastructure and molecular pathogenesis of epidermolysis bullosa.
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.

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2012: John A McGrath; W H Irwin McLean; James R McMillan; Jemima E Mellerio; Rumena Begum; Patricia Dopping-Hepenstal; Lu Liu; Anna E Martinez; Celine Pourreyron; Michael A Simpson; Andrew P South; Kristina L Stone; Maddy Parsons
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.
American journal of human genetics 2012;91(6):1115-21.
2011: Satoru Shinkuma; James R McMillan; Hiroshi Shimizu
Ultrastructure and molecular pathogenesis of epidermolysis bullosa.
Clinics in dermatology 2011;29(4):412-9.
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: 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: Gang Wang; Hideyuki Ujiie; Akihiko Shibaki; Wataru Nishie; Yasuki Tateishi; Kazuhiro Kikuchi; Qiang Li; James R McMillan; Hiroshi Morioka; Daisuke Sawamura; Hideki Nakamura; Hiroshi Shimizu
Blockade of autoantibody-initiated tissue damage by using recombinant fab antibody fragments against pathogenic autoantigen.
The American journal of pathology 2010;176(2):914-25.
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.
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: 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: 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: 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: 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: Hongjiang Qiao; James R McMillan
Gelsolin segment 5 inhibits HIV-induced T-cell apoptosis via Vpr-binding to VDAC.
FEBS letters 2007;581(3):535-40.
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: 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: Daisuke Inokuma; Riichiro Abe; Yasuyuki Fujita; Mikako Sasaki; Akihiko Shibaki; Hideki Nakamura; James R McMillan; Tadamichi Shimizu; Hiroshi Shimizu
CTACK/CCL27 accelerates skin regeneration via accumulation of bone marrow-derived keratinocytes.
Stem cells (Dayton, Ohio) 2006;24(12):2810-6.
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: 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.
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: 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: Hiroyuki Nakamura; Daisuke Sawamura; Maki Goto; Hideki Nakamura; James R McMillan; Susam Park; Sumio Kono; Shiro Hasegawa; Son'e Paku; Tomohiko Nakamura; Yoshihumi Ogiso; Hiroshi Shimizu
Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).
The Journal of molecular diagnostics : JMD 2005;7(1):28-35.
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.
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: James R McMillan; Tetsuri Matsumura; Takashi Hashimoto; Hauke Schumann; Leena Bruckner-Tuderman; Hiroshi Shimizu
Immunomapping of EBA sera to multiple epitopes on collagen VII: further evidence that anchoring fibrils originate and terminate in the lamina densa.
Experimental dermatology 2003;12(3):261-7.
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: 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.
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: Kana Yasukawa; Daisuke Sawamura; James R McMillan; Hideki Nakamura; Hiroshi Shimizu
Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.
The Journal of biological chemistry 2002;277(26):23670-4.
2001: James R McMillan; Hiroshi Shimizu
Desmosomes: structure and function in normal and diseased epidermis.
The Journal of dermatology 2001;28(6):291-8.
1999: John A McGrath; G H S Ashton; Jemima E Mellerio; Julio C Salas-Alanis; Ole Swensson; James R McMillan; Robin A J Eady
Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.
The Journal of investigative dermatology 1999;113(3):314-21.
1999: John A McGrath; Peter H Hoeger; A M Christiano; James R McMillan; Jemima E Mellerio; G H S Ashton; Patricia Dopping-Hepenstal; BD Lake; Irene M Leigh; John I Harper; Robin A J Eady
Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1.
The British journal of dermatology 1999;140(2):297-307.
1998: Jemima E Mellerio; L Pulkkinen; James R McMillan; BD Lake; Helen M Horn; Michael J Tidman; John I Harper; John A McGrath; Jouni Uitto; Robin A J Eady
Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.
The British journal of dermatology 1998;139(5):862-71.
1998: Ole Swensson; Lutz Langbein; James R McMillan; Howard P Stevens; Irene M Leigh; W H Irwin McLean; E Birgitte Lane; Robin A J Eady
Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress.
The British journal of dermatology 1998;139(5):767-75.
1998: James R McMillan; John A McGrath; Michael J Tidman; Robin A J Eady
Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa.
The Journal of investigative dermatology 1998;110(2):132-7.
1997: Jemima E Mellerio; Frances J D Smith; James R McMillan; W H McLean; John A McGrath; G A Morrison; PA Tierney; D M Albert; Gerhard Wiche; I M Leigh; J F Geddes; E Birgitte Lane; J Uitto; Robin A J Eady
Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases.
The British journal of dermatology 1997;137(6):898-906.
1997: John A McGrath; James R McMillan; Carrie S Shemanko; Sarah K Runswick; Irene M Leigh; E Birgitte Lane; David R Garrod; Robin A J Eady
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.
Nature genetics 1997;17(2):240-4.
1996: Frances J D Smith; Robin A J Eady; Irene M Leigh; James R McMillan; Elizabeth L Rugg; David P Kelsell; S P Bryant; Nigel K Spurr; J F Geddes; Gudula Kirtschig; G Milana; A G de Bono; Katsushi Owaribe; Gerhard Wiche; L Pulkkinen; J Uitto; W H Irwin McLean; E Birgitte Lane
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.
Nature genetics 1996;13(4):450-7.
1996: W H Irwin McLean; L Pulkkinen; Frances J D Smith; Elizabeth L Rugg; E Birgitte Lane; Florencia Bullrich; R E Burgeson; S Amano; D L Hudson; Katsushi Owaribe; J A McGrath; James R McMillan; Robin A J Eady; Irene M Leigh; Angela M Christiano; Jouni Uitto
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.
Genes & development 1996;10(14):1724-35.
1996: J A McGrath; B Gatalica; K Li; M G Dunnill; James R McMillan; Angela M Christiano; Robin A J Eady; Jouni Uitto
Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.
The American journal of pathology 1996;148(6):1787-96.
1996: James R McMillan; Robin A J Eady
Hemidesmosome ontogeny in digit skin of the human fetus.
Archives of dermatological research 1996;288(2):91-7.
1995: J A McGrath; B Gatalica; Angela M Christiano; K Li; Katsushi Owaribe; James R McMillan; Robin A J Eady; J Uitto
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.
Nature genetics 1995;11(1):83-6.
1995: J A McGrath; James R McMillan; M G Dunnill; L Pulkkinen; Angela M Christiano; C H Rodeck; Robin A J Eady; J Uitto
Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family.
Prenatal diagnosis 1995;15(7):647-54.
1995: Sirpa Kivirikko; J A McGrath; C Baudoin; Daniel Aberdam; S Ciatti; M G Dunnill; James R McMillan; Robin A J Eady; Jean-Paul Ortonne; Guerrino Meneguzzi
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.
Human molecular genetics 1995;4(5):959-62.
1994: Elizabeth L Rugg; W H Irwin McLean; E Birgitte Lane; R Pitera; James R McMillan; Patricia Dopping-Hepenstal; H A Navsaria; Irene M Leigh; Robin A J Eady
A functional "knockout" of human keratin 14.
Genes & development 1994;8(21):2563-73.
1994: W H Irwin McLean; Robin A J Eady; Patricia Dopping-Hepenstal; James R McMillan; Irene M Leigh; H A Navsaria; C Higgins; John I Harper; D G Paige; S M Morley
Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
The Journal of investigative dermatology 1994;102(1):24-30.