J. R. McMillan

发表

Epidermal basement membrane zone components: ultrastructural distribution and molecular interactions.

J. R. McMillan, M. Akiyama, H. Shimizu, 2003, Journal of dermatological science.

Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

M. Simpson, J. R. McMillan, M. Akiyama, 2014, American journal of human genetics.

Second harmonic generation and multiphoton microscopic detection of collagen without the need for species specific antibodies.

Hiroshi Shimizu, Leila Cuttle, J. R. McMillan, 2011, Burns : journal of the International Society for Burn Injuries.

Plectin defects in epidermolysis bullosa simplex with muscular dystrophy

E. Lane, J. R. McMillan, M. Akiyama, 2007, Muscle & nerve.

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

E. Lane, J. R. McMillan, J. McGrath, 1997, Nature Genetics.

Gap junction development in the human fetal hair follicle and bulge region

J. R. McMillan, M. Akiyama, H. Shimizu, 2004, The British journal of dermatology.

Dominant and Recessive Compound Heterozygous Mutations in Epidermolysis Bullosa Simplex Demonstrate the Role of the Stutter Region in Keratin Intermediate Filament Assembly*

J. R. McMillan, H. Shimizu, Hideki Nakamura, 2002, The Journal of Biological Chemistry.

Epidermolysis bullosa: directions for future research and new challenges for treatment

J. R. McMillan, M. Akiyama, H. Shimizu, 2003, Archives of Dermatological Research.

ACCELERATED PUBLICATION Fractionating Recalcitrant Lignocellulose at Modest Reaction Conditions

L. Lynd, M. Himmel, M. Laser, 2007 .

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.

J. R. McMillan, M. Akiyama, H. Shimizu, 2005, The Journal of clinical investigation.

Desmosomes: Structure and Function in Normal and Diseased Epidermis

J. R. McMillan, H. Shimizu, H. Shimizu, 2001, The Journal of dermatology.

A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads.

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, The Journal of investigative dermatology.

Bullous pemphigoid and cicatricial pemphigoid autoantibodies react with ultrastructurally separable epitopes on the BP180 ectodomain: evidence that BP180 spans the lamina lucida.

J. R. McMillan, J. Bonnetblanc, R. Eady, 1997, The Journal of investigative dermatology.

Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, Muscle & nerve.

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

J. R. McMillan, J. McGrath, C. Cole, 2015, The British journal of dermatology.

Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases

E. Lane, J. R. McMillan, J. Uitto, 1997, The British journal of dermatology.

Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, Experimental dermatology.

University of Dundee Mutations in GRHL 2 result in an autosomal-recessive ectodermal dysplasia syndrome

M. Simpson, J. R. McMillan, M. Akiyama, 2022 .

Beta defensin-3 engineered epidermis shows highly protective effect for bacterial infection

J. R. McMillan, M. Akiyama, H. Shimizu, 2005, Gene Therapy.

Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex

J. R. McMillan, M. Akiyama, H. Shimizu, 2010, Human mutation.

A Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.

J. R. McMillan, J. McGrath, C. Ainali, 2019, Journal of the American Academy of Dermatology.

Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, The British journal of dermatology.

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.

E. Lane, R. Ray, S. DeArmond, 1996, Genes & development.

DNA‐based prenatal diagnosis of plectin‐deficient epidermolysis bullosa simplex associated with pyloric atresia

J. R. McMillan, M. Akiyama, H. Shimizu, 2011, International journal of dermatology.

Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1.

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, The Journal of investigative dermatology.

Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).

J. R. McMillan, H. Shimizu, Tomohiko Nakamura, 2005, The Journal of molecular diagnostics : JMD.

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.

J. R. McMillan, J. McGrath, J. Ortonne, 1995, Human molecular genetics.

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

E. Lane, D. Kelsell, J. R. McMillan, 1996, Nature Genetics.

Cyanoacrylate glue as an alternative mounting medium for resin-embedded semithin sections.

J. R. McMillan, R. Kimble, Margit Kempf, 2010, Journal of electron microscopy.

Characterization of Kdap, a protein secreted by keratinocytes.

J. R. McMillan, M. Akiyama, H. Shimizu, 2004, The Journal of investigative dermatology.

A functional "knockout" of human keratin 14.

E. Lane, J. R. McMillan, I. Leigh, 1994, Genes & development.

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.

J. R. McMillan, M. Akiyama, H. Shimizu, 2006, The Journal of investigative dermatology.

CTACK/CCL27 Accelerates Skin Regeneration via Accumulation of Bone Marrow‐Derived Keratinocytes

J. R. McMillan, H. Shimizu, Hideki Nakamura, 2006, Stem cells.

Hemidesmosome ontogeny in digit skin of the human fetus

J. R. McMillan, R. Eady, J. McMillan, 1996, Archives of Dermatological Research.

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis.

M. Simpson, J. R. McMillan, M. Akiyama, 2016, Journal of Investigative Dermatology.

Epithelial and Mesenchymal Cell Biology CGI-58 Is an /-Hydrolase within Lipid Transporting Lamellar Granules of Differentiated Keratinocytes

J. R. McMillan, M. Akiyama, H. Shimizu, 2010 .

University of Dundee Lysyl hydroxylase 3 localizes to epidermal basement membrane and Is reduced in patients with Recessive Dystrophic Epidermolysis

J. Tolar, J. R. McMillan, J. McGrath, 2017 .

Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa

J. Tolar, J. R. McMillan, J. McGrath, 2015, PloS one.

Humanization of autoantigen

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, Nature Medicine.

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.

J. R. McMillan, J. Uitto, J. McGrath, 1996, The American journal of pathology.

Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

C. Rodeck, J. R. McMillan, J. Uitto, 1995, Prenatal diagnosis.

A review of first aid treatments for burn injuries.

John Pearn, Leila Cuttle, J. R. McMillan, 2009, Burns : journal of the International Society for Burn Injuries.

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.

J. R. McMillan, M. Akiyama, H. Shimizu, 2003, The Journal of investigative dermatology.

Ultrastructural Orientation of Laminin 5 in the Epidermal Basement Membrane: an Updated Model for Basement Membrane Organization 1

J. R. McMillan, M. Akiyama, H. Shimizu, 2003, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

J. R. McMillan, J. Uitto, J. McGrath, 1995, Nature Genetics.

Collagen XVII participates in keratinocyte adhesion to collagen IV, and in p38MAPK-dependent migration and cell signaling.

J. R. McMillan, M. Akiyama, H. Shimizu, 2009, The Journal of investigative dermatology.

Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation

R. Burgeson, J. R. McMillan, J. McGrath, 1997, The British journal of dermatology.

Whole‐exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

M. Simpson, J. R. McMillan, M. Akiyama, 2015, The British journal of dermatology.

Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa.

J. R. McMillan, J. McGrath, R. Eady, 1998, The Journal of investigative dermatology.

Ultrastructural clues to genetic disorders of skin: the dermal-epidermal junction.

J. R. McMillan, J. McGrath, R. Eady, 1994, The Journal of investigative dermatology.

Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.

J. R. McMillan, J. McGrath, R. Eady, 1999, The Journal of investigative dermatology.

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

E. Lane, J. R. McMillan, I. Leigh, 1994, The Journal of investigative dermatology.

Hair follicle stem cells provide a functional niche for melanocyte stem cells.

H. Nakauchi, J. R. McMillan, N. Binh, 2011, Cell stem cell.

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

M. Simpson, S. Blumen, J. Tolar, 2017, American journal of human genetics.

Diffuse melanosis cutis: a systematic review of the literature.

J. R. McMillan, D. Murrell, J. Frew, 2013, Journal of the American Academy of Dermatology.

Fractionating recalcitrant lignocellulose at modest reaction conditions.

Mark Laser, Richard T Elander, Jonathan R Mielenz, 2007, Biotechnology and bioengineering.

Quality of life in patients with bullous dermatoses.

J. R. McMillan, D. Murrell, V. Werth, 2012, Clinics in dermatology.

Whole‐exome sequencing diagnosis of two autosomal recessive disorders in one family

M. Simpson, J. R. McMillan, M. Akiyama, 2015, The British journal of dermatology.

The cytolinker plectin regulates nuclear mechanotransduction in keratinocytes

J. R. McMillan, J. McGrath, J. Connelly, 2015, Journal of Cell Science.

Changes in Gap Junction Distribution and Connexin Expression Pattern During Human Fetal Skin Development

J. R. McMillan, M. Akiyama, H. Shimizu, 2002, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Gelsolin segment 5 inhibits HIV‐induced T‐cell apoptosis via Vpr‐binding to VDAC

J. R. McMillan, Hongjiang Qiao, J. McMillan, 2007, FEBS letters.

DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences.

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, The Journal of investigative dermatology.

A novel ABCA12 mutation 3270delT causes harlequin ichthyosis

J. R. McMillan, M. Akiyama, H. Shimizu, 2006, The British journal of dermatology.

Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity.

J. R. McMillan, M. Akiyama, H. Shimizu, 2006, The Journal of investigative dermatology.

Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis.

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, The American journal of pathology.

Ichthyosis Prematurity Syndrome: From Fetus to Adulthood.

J. R. McMillan, J. McGrath, J. Mellerio, 2016, JAMA dermatology.

Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.

M. Simpson, J. R. McMillan, J. McGrath, 2016, Journal of dermatological science.

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR

M. Simpson, J. R. McMillan, M. Akiyama, 2014, The Journal of investigative dermatology.

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.

M. Simpson, J. R. McMillan, J. McGrath, 2012, American journal of human genetics.

Bone marrow transplantation restores epidermal basement membrane protein expression and rescues epidermolysis bullosa model mice

J. R. McMillan, M. Akiyama, H. Shimizu, 2010, Proceedings of the National Academy of Sciences.

Mutations in EXPH5 result in autosomal recessive inherited skin fragility

J. R. McMillan, M. Parsons, J. Mellerio, 2014, The British journal of dermatology.

Ultrastructure and molecular pathogenesis of epidermolysis bullosa.

J. R. McMillan, H. Shimizu, S. Shinkuma, 2011, Clinics in dermatology.

Founder mutation in dystonin‐e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait

M. Simpson, J. R. McMillan, M. Akiyama, 2015, The British journal of dermatology.

Instructions for use Title A novel ABCA 12 mutation 3270 delT causes harlequin ichthyosis

J. R. McMillan, H. Shimizu, I. Hausser, 2017 .

ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma.

J. R. McMillan, M. Akiyama, H. Shimizu, 2009, The Journal of investigative dermatology.

Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma

J. R. McMillan, M. Akiyama, H. Shimizu, 2008, The British journal of dermatology.

Compound Heterozygous ABCA12 Mutations Including a Novel Nonsense Mutation Underlie Harlequin Ichthyosis

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, Dermatology.

Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function.

J. R. McMillan, R. Kimble, Roy M Kimble, 2010, Dermatologic clinics.

Small-diameter porous poly (epsilon-caprolactone) films enhance adhesion and growth of human cultured epidermal keratinocyte and dermal fibroblast cells.

J. R. McMillan, M. Akiyama, H. Shimizu, 2007, Tissue engineering.

Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.

F. Reid, J. Tolar, M. del Río, 2019, JCI insight.

Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB

J. R. McMillan, J. McGrath, F. Farzaneh, 2016, The Journal of investigative dermatology.

Lentiviral Engineered Fibroblasts Expressing Codon Optimized COL7A1 Restore Anchoring Fibrils in RDEB.

J. R. McMillan, J. McGrath, F. Farzaneh, 2015, The Journal of investigative dermatology.

Immunomapping of EBA sera to multiple epitopes on collagen VII: further evidence that anchoring fibrils originate and terminate in the lamina densa

J. R. McMillan, H. Shimizu, T. Hashimoto, 2003, Experimental dermatology.

A denatured collagen microfiber scaffold seeded with human fibroblasts and keratinocytes for skin grafting.

Y. Tabata, J. R. McMillan, H. Shimizu, 2011, Biomaterials.