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Dr James McMillan BSc MSc MBA (PhD)

Dr James  McMillan, BSc MSc MBA (PhD)

Lead Electron Microscopist - Cambridge Advanced Imaging Centre

Office Phone: +44 (0) 1223 333774


James McMillan heads the electron microscope side of the CAIC facility covering both the transmission and scanning electron microscope sample preparation and imaging aspects of the service. James joined the centre from lead electron microscopist running a diagnostic EM service at Guys and St Thomas' hospital in central London. James obtained his PhD using extensive electron microscopic techniques at Kings College London and has worked on projects in the Netherlands Cancer Institute, Amsterdam; Hokkaido University, Sapporo, Japan and at the University of Queensland in Brisbane, Australia.

Research Interests

Control of cell size and shape

Cell cytoskeleton

Cell interfaces (biomaterials, nanomaterials, basement membrane)

Structural proteins (collagens, intermediate filaments, microfilaments)

Cell storage and organelle trafficking

Epithelial cell cohesion (desmosomes. hemidesmosomes)

Correlative light and (immune-)electron microscopy (CLEM)


Introduction to electron microscopy (basic TEM/SEM operation)

More advanced EM cryomethods

Tissue preparation and sectioning for EM

Key Publications

Akiyama, M., et al. (2007). "A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads." Journal of Investigative Dermatology 127(6): 1540-1543.


Akiyama, M., et al. (2007). "Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy." Muscle and Nerve 36(6): 856-859.


Akiyama, M., et al. (2007). "Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis." Dermatology 215(2): 155-159.


Akiyama, M., et al. (2008). "CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes." American Journal of Pathology 173(5): 1349-1360.


Almeida, F. V., et al. (2015). "The cytolinker plectin regulates nuclear mechanotransduction in keratinocytes." Journal of Cell Science 128(24): 4475-4486.


Arita, K., et al. (2002). "Changes in gap junction distribution and connexin expression pattern during human fetal skin development." Journal of Histochemistry and Cytochemistry 50(11): 1493-1500.


Campbell, P., et al. (2014). "Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR." Journal of Investigative Dermatology 134(10): 2570-2578.


Chen, A. C., et al. (2011). "Second harmonic generation and multiphoton microscopic detection of collagen without the need for species specific antibodies." Burns 37(6): 1001-1009.


D'Souza, M. A., et al. (2010). "Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function." Dermatologic Clinics 28(1): 115-118.


Georgiadis, C., et al. (2016). "Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB." Journal of Investigative Dermatology 136(1): 284-292.


Hsu, C. K., et al. (2016). "Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1." Journal of Dermatological Science 84(2): 210-212.


Inokuma, D., et al. (2006). "CTACK/CCL27 accelerates skin regeneration via accumulation of bone marrow-derived keratinocytes." Stem Cells 24(12): 2810-2816.


Ito, H., et al. (2007). "N-linked neutral oligosaccharides in the stratum corneum of normal and ichthyotic skin." Archives for Dermatological Research (Archiv fur Dermatologische Forschung) 298(8): 403-407.


Kempf, M., et al. (2011). "A denatured collagen microfiber scaffold seeded with human fibroblasts and keratinocytes for skin grafting." Biomaterials 32(21): 4782-4792.


Kivirikko, S., et al. (1995). "A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa." Human Molecular Genetics 4(5): 959-962.


Liu, L., et al. (2014). "Mutations in EXPH5 result in autosomal recessive inherited skin fragility." British Journal of Dermatology 170(1): 196-199.


Liu, P. Y., et al. (2009). "Cyanoacrylate glue as an alternative mounting medium for resin-embedded semithin sections." Journal of Electron Microscopy 59(1): 87-90.


McGrath, J. A., et al. (1995). "Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa." Nature Genetics 11(1): 83-86.


McGrath, J. A., et al. (1996). "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." American Journal of Pathology 148(6): 1787-1796.


McGrath, J. A., et al. (1999). "Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1." British Journal of Dermatology 140(2): 297-307.


McGrath, J. A., et al. (1995). "Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family." Prenatal Diagnosis 15(7): 647-654.


McGrath, J. A., et al. (1997). "Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome." Nature Genetics 17(2): 240-244.


McGrath, J. A., et al. (2012). "Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility." American Journal of Human Genetics 91(6): 1115-1121.



McLean, W. H., et al. (1994). "Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE)." Journal of Investigative Dermatology 102(1): 24-30.


McLean, W. H., et al. (1996). "Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization." Genes and Development 10(14): 1724-1735.


McMillan, J. R., et al. (2006). "Colocalization of multiple laminin isoforms predominantly beneath hemidesmosomes in the upper lamina densa of the epidermal basement membrane." Journal of Histochemistry and Cytochemistry 54(1): 109-118.


McMillan, J. R., et al. (2003). "Epidermal basement membrane zone components: ultrastructural distribution and molecular interactions." Journal of Dermatological Science 31(3): 169-177.


McMillan, J. R., et al. (2003). "Ultrastructural orientation of laminin 5 in the epidermal basement membrane: an updated model for basement membrane organization." Journal of Histochemistry and Cytochemistry 51(10): 1299-1306.


McMillan, J. R., et al. (2007). "Small-diameter porous poly (epsilon-caprolactone) films enhance adhesion and growth of human cultured epidermal keratinocyte and dermal fibroblast cells." Tissue Engineering 13(4): 789-798.


McMillan, J. R., et al. (2003). "Immunomapping of EBA sera to multiple epitopes on collagen VII: further evidence that anchoring fibrils originate and terminate in the lamina densa." Experimental Dermatology 12(3): 261-267.


McMillan, J. R., et al. (2008). "Porous films allow live human skin cell delivery and aid wound healing in model mice." Journal of Dermatology 35(9): 630-631.


Mellerio, J. E., et al. (1998). "Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease." British Journal of Dermatology 139(5): 862-871.


Nakamura, H., et al. (2011). "DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia." International Journal of Dermatology 50(4): 439-442.


Nakamura, H., et al. (2005). "Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)." Journal of Molecular Diagnostics 7(1): 28-35.


Natsuga, K., et al. (2010). "Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex." Human Mutation 31(3): 308-316.


Nishie, W., et al. (2007). "Humanization of autoantigen." Nature Medicine 13(3): 378-383.


Petrof, G., et al. (2014). "Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome." American Journal of Human Genetics 95(3): 308-314.


Qiao, H., et al. (2009). "Collagen XVII participates in keratinocyte adhesion to collagen IV, and in p38MAPK-dependent migration and cell signaling." Journal of Investigative Dermatology 129(9): 2288-2295.


Rugg, E. L., et al. (1994). "A functional "knockout" of human keratin 14." Genes and Development 8(21): 2563-2573.


Sakai, K., et al. (2007). "Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes." Experimental Dermatology 16(11): 920-926.


Sakai, K., et al. (2009). "ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma." Journal of Investigative Dermatology 129(9): 2306-2309.


Sawamura, D., et al. (2007). "Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1." Journal of Investigative Dermatology 127(6): 1537-1540.


Sawamura, D., et al. (2005). "Beta defensin-3 engineered epidermis shows highly protective effect for bacterial infection." Gene Therapy 12(10): 857-861.


Sebaratnam, D. F., et al. (2012). "Quality of life in patients with bullous dermatoses." Clinics in Dermatology 30(1): 103-107.


Sebaratnam, D. F., et al. (2013). "Diffuse melanosis cutis: A systematic review of the literature." Journal of the American Academy of Dermatology 68(3): 482-488.


Shinkuma, S., et al. (2011). "Ultrastructure and molecular pathogenesis of epidermolysis bullosa." Clinics in Dermatology 29(4): 412-419.


Smith, F. J., et al. (1996). "Plectin deficiency results in muscular dystrophy with epidermolysis bullosa." Nature Genetics 13(4): 450-457.


Swensson, O., et al. (1998). "Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress." British Journal of Dermatology 139(5): 767-775.


Takeichi, T., et al. (2015). "Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory." British Journal of Dermatology 172(1): 94-100.

demonstrates that NGS can improve diagnostic sensitivity in EB compared with current laboratory practice.


Takeichi, T., et al. (2015). "Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait." British Journal of Dermatology 172(2): 527-531.


Tanimura, S., et al. (2011 ). "Hair follicle stem cells provide a COL17A1-dependent niche for melanocyte stem cells." Cell Stem Cells 8: 177-187.


Tsuchida, S., et al. (2004). "Characterization of Kdap, a protein secreted by keratinocytes." Journal of Investigative Dermatology 122(5): 1225-1234.


Wang, G., et al. (2009). "Blockade of Autoantibody-Initiated Tissue Damage by Using Recombinant Fab Antibody Fragments against Pathogenic Autoantigen." American Journal of Pathology 176: 914-925.


Watt, S. A., et al. (2015). "Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa." PLoS ONE 10(9): e0137639.


Yamanaka, Y., et al. (2007). "Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis." American Journal of Pathology 171(1): 43-52.



Yasukawa, K., et al. (2002). "Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly." Journal of Biological Chemistry 277(26): 23670-23674.