Search Result Details

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One or more keywords matched the following items that are connected to South, Andrew
Item TypeName
Concept Mutation
Concept Frameshift Mutation
Concept Germ-Line Mutation
Concept Mutation, Missense
Academic Article Next-generation sequencing for mutation detection in heritable skin diseases: the paradigm of pseudoxanthoma elasticum.
Academic Article Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
Academic Article Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
Academic Article BPAG1-e restricts keratinocyte migration through control of adhesion stability.
Academic Article The molecular skin pathology of familial primary localized cutaneous amyloidosis.
Academic Article Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Academic Article NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.
Academic Article Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
Academic Article Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Academic Article Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa.
Academic Article Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.
Academic Article Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
Academic Article Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.
Academic Article Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.
Academic Article APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.
Academic Article Tumour-stroma crosstalk in the development of squamous cell carcinoma.
Academic Article Gauging NOTCH1 Activation in Cancer Using Immunohistochemistry.
Academic Article Novel CARD11 Mutations in Human Cutaneous Squamous Cell Carcinoma Lead to Aberrant NF-?B Regulation.
Academic Article CREBBP mutation in human cutaneous squamous cell carcinoma.
Academic Article Genetic Mutations Underlying Phenotypic Plasticity in Basosquamous Carcinoma.
Academic Article Mutation signature analysis identifies increased mutation caused by tobacco smoke associated DNA adducts in larynx squamous cell carcinoma compared with oral cavity and oropharynx.
Academic Article Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma.
Academic Article The double-edged sword of Notch signaling in cancer.
Academic Article Impaired Wound Healing, Fibrosis, and Cancer: The Paradigm of Recessive Dystrophic Epidermolysis Bullosa.
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