Clinical and genetic heterogeneity of erythrokeratoderma variabilis.

PubWeight™: 0.94‹?›

🔗 View Article (PMID 16297190)

Published in J Invest Dermatol on November 01, 2005

Authors

John E A Common1, Edel A O'Toole, Irene M Leigh, Anna Thomas, William A D Griffiths, Vanessa Venning, Sophie Grabczynska, Zdravko Peris, Aleksej Kansky, David P Kelsell

Author Affiliations

1: Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London, UK.

Articles by these authors

Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol (2008) 3.34

Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma. Proc Natl Acad Sci U S A (2011) 3.10

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet (2006) 2.81

Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc (2005) 2.45

Inflammatory skin and bowel disease linked to ADAM17 deletion. N Engl J Med (2011) 2.41

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet (2005) 1.97

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol (2004) 1.95

Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength. J Cell Biol (2002) 1.83

Clinicopathologic features of skin cancer in organ transplant recipients: a retrospective case-control series. J Am Acad Dermatol (2006) 1.74

Relationship between p53 codon 72 polymorphism and susceptibility to sunburn and skin cancer. J Invest Dermatol (2002) 1.66

Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event. Cancer Res (2005) 1.59

Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol (2007) 1.57

Keratin K6c mutations cause focal palmoplantar keratoderma. J Invest Dermatol (2009) 1.51

Keratin 14-null cells as a model to test the efficacy of gene therapy approaches in epithelial cells. J Invest Dermatol (2011) 1.44

Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis. Genes Chromosomes Cancer (2007) 1.39

Cell-cell connectivity: desmosomes and disease. J Pathol (2011) 1.36

Gauging NOTCH1 Activation in Cancer Using Immunohistochemistry. PLoS One (2013) 1.32

The role of hyaluronic acid in wound healing: assessment of clinical evidence. Am J Clin Dermatol (2005) 1.29

Matrix metalloproteinases and epidermal wound repair. Cell Tissue Res (2012) 1.22

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet (2012) 1.18

Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability. J Cell Sci (2003) 1.16

Older patients and delayed discharge from hospital. Health Soc Care Community (2000) 1.13

Treatment of pachyonychia congenita. J Investig Dermatol Symp Proc (2005) 1.13

Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. J Invest Dermatol (2006) 1.12

The association of bullous pemphigoid with cerebrovascular disease and dementia: a case-control study. Arch Dermatol (2010) 1.10

Tyrosine dephosphorylation is required for Bak activation in apoptosis. EMBO J (2010) 1.09

p16INK4a and p14ARF tumor suppressor genes are commonly inactivated in cutaneous squamous cell carcinoma. J Invest Dermatol (2004) 1.08

Single nucleotide polymorphism array analysis defines a specific genetic fingerprint for well-differentiated cutaneous SCCs. J Invest Dermatol (2009) 1.08

ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol (2006) 1.08

High frequency and diversity of cutaneous appendageal tumors in organ transplant recipients. J Am Acad Dermatol (2003) 1.07

Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa. Cancer Res (2012) 1.07

Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. J Mol Diagn (2005) 1.07

Role for WNT16B in human epidermal keratinocyte proliferation and differentiation. J Cell Sci (2007) 1.04

Recent advances in the genetics and management of harlequin ichthyosis. Pediatr Dermatol (2014) 1.03

The keratins and their disorders. Am J Med Genet C Semin Med Genet (2004) 1.01

Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen. J Cell Sci (2009) 1.01

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. Hum Genet (2002) 1.00

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. Am J Hum Genet (2011) 0.98

Reducing wound pain in venous leg ulcers with Biatain Ibu: a randomized, controlled double-blind clinical investigation on the performance and safety. Wound Repair Regen (2009) 0.98

HPV8 early genes modulate differentiation and cell cycle of primary human adult keratinocytes. Exp Dermatol (2007) 0.97

Understanding the pathogenesis of recessive dystrophic epidermolysis bullosa squamous cell carcinoma. Dermatol Clin (2010) 0.97

Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene. Hum Genet (2004) 0.96

A comparison of tissue-engineered hyaluronic acid dermal matrices in a human wound model. Tissue Eng (2006) 0.96

Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene. Int J Cancer (2011) 0.95

Key functions for gap junctions in skin and hearing. Biochem J (2011) 0.95

A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. J Invest Dermatol (2012) 0.94

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet (2013) 0.94

Epidermal repair results from activation of follicular and epidermal progenitor keratinocytes mediated by a growth factor cascade. Wound Repair Regen (2007) 0.93

Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α. Gut (2012) 0.93

Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis. J Cell Sci (2005) 0.93

Connexins in epidermal homeostasis and skin disease. Biochim Biophys Acta (2011) 0.92

GLI1 repression of ERK activity correlates with colony formation and impaired migration in human epidermal keratinocytes. Carcinogenesis (2008) 0.92

Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis. Am J Pathol (2009) 0.92

ARNT controls the expression of epidermal differentiation genes through HDAC- and EGFR-dependent pathways. J Cell Sci (2012) 0.92

Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness. Proc Natl Acad Sci U S A (2006) 0.91

Two mechanisms regulate keratin K15 expression in keratinocytes: role of PKC/AP-1 and FOXM1 mediated signalling. PLoS One (2012) 0.91

An altered keratinocyte phenotype in oral submucous fibrosis: correlation of keratin K17 expression with disease severity. J Oral Pathol Med (2008) 0.91

Stem/progenitor cell-like properties of desmoglein 3dim cells in primary and immortalized keratinocyte lines. Stem Cells (2007) 0.90

A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro. J Membr Biol (2007) 0.90

Less pain with Biatain-Ibu: initial findings from a randomised, controlled, double-blind clinical investigation on painful venous leg ulcers. Int Wound J (2007) 0.89

The epidermolysis bullosa acquisita antigen (type VII collagen) is present in human colon and patients with crohn's disease have autoantibodies to type VII collagen. J Invest Dermatol (2002) 0.89

Using hypothetical data to assess the effect of numerical format and context on the perception of coronary heart disease risk. Am J Health Promot (2008) 0.89

Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus. Oncogene (2002) 0.89

p63 mediates an apoptotic response to pharmacological and disease-related ER stress in the developing epidermis. Dev Cell (2011) 0.89

Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations. Hum Mol Genet (2002) 0.88

Mutational analysis of selected genes in the TGFbeta, Wnt, pRb, and p53 pathways in primary uveal melanoma. Invest Ophthalmol Vis Sci (2002) 0.87

Non-junctional human desmoglein 3 acts as an upstream regulator of Src in E-cadherin adhesion, a pathway possibly involved in the pathogenesis of pemphigus vulgaris. J Pathol (2012) 0.86

EKV mutant connexin 31 associated cell death is mediated by ER stress. Hum Mol Genet (2009) 0.86

Epidermal and hair follicle progenitor cells express melanoma-associated chondroitin sulfate proteoglycan core protein. J Invest Dermatol (2004) 0.86

Functional studies of human skin disease- and deafness-associated connexin 30 mutations. Biochem Biophys Res Commun (2002) 0.86

Ultra-deformable liposomes containing bleomycin: in vitro stability and toxicity on human cutaneous keratinocyte cell lines. Int J Pharm (2005) 0.86

Adducin expression in cutaneous and oral lesions: alpha- and beta-adducin transcripts down-regulate with keratinocyte differentiation in stratified epithelia. J Pathol (2003) 0.86

Hyalinosis cutis et mucosae: a 30 year follow up of a female patient. Eur J Dermatol (2004) 0.85

Prediction of children's flavour preferences. Effect of age and stability in reported preferences. Appetite (2010) 0.85

p63 is an alternative p53 repressor in melanoma that confers chemoresistance and a poor prognosis. J Exp Med (2013) 0.85

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Hum Mol Genet (2002) 0.85

Keratins and skin disease. Cell Tissue Res (2015) 0.85