Andrew P. South

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in 1q21.

Strategies to identify disease genes.

Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.

Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.

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.

Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability.

Autoantibodies to extracellular matrix protein 1 in lichen sclerosus.

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.

Reduced expression of insulin-like growth factor-binding protein-3 (IGFBP-3) in Squamous cell carcinoma complicating recessive dystrophic epidermolysis bullosa.

Development of antigen-specific ELISA for circulating autoantibodies to extracellular matrix protein 1 in lichen sclerosus.

Rapid diagnosis of lipoid proteinosis using an anti-extracellular matrix protein 1 (ECM1) antibody.

The use of non-nutritive sucking to decrease the physiologic pain response during neonatal circumcision: a randomized controlled trial.

Increased keratinocyte proliferation initiated through downregulation of desmoplakin by RNA interference.

Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.

Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.

Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen.

Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.

Understanding the pathogenesis of recessive dystrophic epidermolysis bullosa squamous cell carcinoma.

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.

The molecular skin pathology of familial primary localized cutaneous amyloidosis.

Identification and characterization of DSPIa, a novel isoform of human desmoplakin.

No evidence that human papillomavirus is responsible for the aggressive nature of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma.

Mathematical modeling of cancer cell invasion of tissue: biological insight from mathematical analysis and computational simulation.

Spatial analysis of preterm birth demonstrates opportunities for targeted intervention.

Isolation and culture of squamous cell carcinoma lines.

Feeder layers: co-culture with nonneoplastic cells.

Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma.

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.

The double-edged sword of Notch signaling in cancer.

Wnt5a is strongly expressed at the leading edge in non-melanoma skin cancer, forming active gradients, while canonical Wnt signalling is repressed.

The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes.

Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa.

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

Spatial analysis in support of community health intervention strategies.

Metaanalysis of the prevalence of intrauterine fetal death in gastroschisis.

Gauging NOTCH1 Activation in Cancer Using Immunohistochemistry.

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

The design and optimization of RNA trans-splicing molecules for skin cancer therapy.

BPAG1-e Restricts Keratinocyte Migration through Control of Adhesion Stability.

Type VII collagen regulates expression of OATP1B3, promotes front-to-rear polarity and increases structural organisation in 3D spheroid cultures of RDEB tumour keratinocytes.

BPAG1-e Restricts Keratinocyte Migration through Control of Adhesion Stability.