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Dr James R. McMillan MBA

Dr James R. McMillan, MBA

Lead Electron Microscopist


Office Phone: 01223 333774

Keywords

  • electron microscopy
  • scanning electron microscopy
  • cell interfaces
  • transmission electron microscopy

Key Publications

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23JYW Lee, CK Hsu, M Michael, A Nanda, L Liu, JR McMillan, C Pourreyron et al. The American Journal of Human Genetics 100, 364-370, (2017).

Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1 CK Hsu, L Liu, PK Can, E Kocatürk, JR McMillan, Ş Güngör, Ö Hürdoğanet al. Journal of Dermatological Science 84, 210-212, (2016).

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis T Takeichi, L Liu, A Abdul-Wahab, JR McMillan, KL Stone, M Akiyama. Journal of Investigative Dermatology 136 (10), 2095-2098, (2016).

Lentiviral engineered fibroblasts expressing codon-optimized COL7A1 restore anchoring fibrils in RDEB C Georgiadis, F Syed, A Petrova, A Abdul-Wahab, SM Lwin, F Farzaneh  , L Chan, S Ghani, RA Fleck, L Glover, JR McMillan, M Chen, A. J. Thrasher, J.A. McGrath, W.-L. Di, W. Qasim Journal of Investigative Dermatology 136 (1), 284-292, (2016).

The cytolinker plectin regulates nuclear mechanotransduction in keratinocytes. FV Almeida, G Walko, JR McMillan, JA McGrath, G Wiche, AH Barber et al. J Cell Sci 128 (24), 4475-4486, (2016).

Plectin deficiency results in muscular dystrophy with epidermolysis bullosaSP Bryant, NK Spurr, JF Geddes, G Kirtschig, G Milana, AG de Bono et al. Nat Genet 13, 450-457 (1996).

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome JA McGrath, JR McMillan, CS Shemanko, SK Runswick, IM Leigh et al. Nature genetics 17, 240-244 (1997).

Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa JA McGrath, B Gatalica, AM Christiano, K Owaribe, JR McMillan et al. Nature genetics 11, 83-86 (1995).

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer M Akiyama, Y Sugiyama-Nakagiri, K Sakai, JR McMillan, M Goto, K Arita et al. The Journal of clinical investigation 115, 1777-1784 (2005).

Humanization of autoantigen W Nishie, D Sawamura, M Goto, K Ito, A Shibaki, JR McMillan, K Sakai et al. Nature medicine 13, 378-383 (2007).