Division of Cancer Research,
Ninewells Hospital and Medical School,
Division of Cancer Research, Ninewells Hospital and Medical School
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Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Human molecular genetics Apr, 2002 | Pubmed ID: 11929856
Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in 1q21.
Oncogene Mar, 2002 | Pubmed ID: 11948409
Strategies to identify disease genes.
Drugs of today (Barcelona, Spain : 1998) Apr, 2002 | Pubmed ID: 12532192
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
The Journal of investigative dermatology Mar, 2003 | Pubmed ID: 12603844
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
American journal of human genetics Jul, 2003 | Pubmed ID: 12789646
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 Jul, 2003 | Pubmed ID: 12839569
Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability.
Journal of cell science Aug, 2003 | Pubmed ID: 12840072
Autoantibodies to extracellular matrix protein 1 in lichen sclerosus.
Lancet Jul, 2003 | Pubmed ID: 12867112
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
The Journal of investigative dermatology Jan, 2004 | Pubmed ID: 14962093
Reduced expression of insulin-like growth factor-binding protein-3 (IGFBP-3) in Squamous cell carcinoma complicating recessive dystrophic epidermolysis bullosa.
The Journal of investigative dermatology May, 2004 | Pubmed ID: 15140235
Development of antigen-specific ELISA for circulating autoantibodies to extracellular matrix protein 1 in lichen sclerosus.
The Journal of clinical investigation Jun, 2004 | Pubmed ID: 15173881
Rapid diagnosis of lipoid proteinosis using an anti-extracellular matrix protein 1 (ECM1) antibody.
Journal of dermatological science Aug, 2004 | Pubmed ID: 15265527
The use of non-nutritive sucking to decrease the physiologic pain response during neonatal circumcision: a randomized controlled trial.
American journal of obstetrics and gynecology Aug, 2005 | Pubmed ID: 16098887
Increased keratinocyte proliferation initiated through downregulation of desmoplakin by RNA interference.
Experimental cell research Jul, 2007 | Pubmed ID: 17475244
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.
The Journal of investigative dermatology Oct, 2007 | Pubmed ID: 17495952
Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.
American journal of human genetics Jan, 2008 | Pubmed ID: 18179886
Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen.
Journal of cell science Jun, 2009 | Pubmed ID: 19435799
Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.
The American journal of pathology Oct, 2009 | Pubmed ID: 19762710
Understanding the pathogenesis of recessive dystrophic epidermolysis bullosa squamous cell carcinoma.
Dermatologic clinics Jan, 2010 | Pubmed ID: 19945632
Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
The Journal of investigative dermatology Jun, 2010 | Pubmed ID: 20130592
The molecular skin pathology of familial primary localized cutaneous amyloidosis.
Experimental dermatology May, 2010 | Pubmed ID: 20507362
Identification and characterization of DSPIa, a novel isoform of human desmoplakin.
Cell and tissue research Jul, 2010 | Pubmed ID: 20524011
No evidence that human papillomavirus is responsible for the aggressive nature of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma.
The Journal of investigative dermatology Dec, 2010 | Pubmed ID: 20739945
Mathematical modeling of cancer cell invasion of tissue: biological insight from mathematical analysis and computational simulation.
Journal of mathematical biology Jul, 2011 | Pubmed ID: 20872264
Spatial analysis of preterm birth demonstrates opportunities for targeted intervention.
Maternal and child health journal Feb, 2012 | Pubmed ID: 21290172
Isolation and culture of squamous cell carcinoma lines.
Methods in molecular biology (Clifton, N.J.) , 2011 | Pubmed ID: 21516406
Feeder layers: co-culture with nonneoplastic cells.
Methods in molecular biology (Clifton, N.J.) , 2011 | Pubmed ID: 21516429
Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma.
Proceedings of the National Academy of Sciences of the United States of America Oct, 2011 | Pubmed ID: 22006338
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.
American journal of human genetics Feb, 2012 | Pubmed ID: 22265016
The double-edged sword of Notch signaling in cancer.
Seminars in cell & developmental biology Jun, 2012 | Pubmed ID: 22309843
Wnt5a is strongly expressed at the leading edge in non-melanoma skin cancer, forming active gradients, while canonical Wnt signalling is repressed.
PloS one , 2012 | Pubmed ID: 22384081
The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes.
Journal of cell science Jun, 2012 | Pubmed ID: 22454510
Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa.
Cancer research Jul, 2012 | Pubmed ID: 22564523
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.
American journal of human genetics Dec, 2012 | Pubmed ID: 23176819
Spatial analysis in support of community health intervention strategies.
AMIA ... Annual Symposium proceedings / AMIA Symposium. AMIA Symposium , 2012 | Pubmed ID: 23304301
Metaanalysis of the prevalence of intrauterine fetal death in gastroschisis.
American journal of obstetrics and gynecology Aug, 2013 | Pubmed ID: 23628262
Gauging NOTCH1 Activation in Cancer Using Immunohistochemistry.
PloS one , 2013 | Pubmed ID: 23825651
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
American journal of human genetics Aug, 2013 | Pubmed ID: 23830519
The design and optimization of RNA trans-splicing molecules for skin cancer therapy.
Molecular oncology Dec, 2013 | Pubmed ID: 23998959
BPAG1-e Restricts Keratinocyte Migration through Control of Adhesion Stability.
The Journal of investigative dermatology Mar, 2014 | Pubmed ID: 24025550
Type VII collagen regulates expression of OATP1B3, promotes front-to-rear polarity and increases structural organisation in 3D spheroid cultures of RDEB tumour keratinocytes.
Journal of cell science Feb, 2014 | Pubmed ID: 24357722
BPAG1-e Restricts Keratinocyte Migration through Control of Adhesion Stability.
The Journal of investigative dermatology Feb, 2014 | Pubmed ID: 24552685