List of works - Edel O'Toole

A Novel Fully Humanized 3D Skin Equivalent to Model Early Melanoma Invasion.

scientific article

A profile of lipid dysregulation in harlequin ichthyosis.

scientific article

Acral peeling skin syndrome associated with a novel CSTA gene mutation.

scientific article published on 18 December 2015

Acute sun damage and photoprotective responses in whales.

scientific article published on 10 November 2010

An unusual case of vulval papulonecrotic tuberculid

scientific article published on 30 September 2010

Analysis of hedgehog signaling in periocular sebaceous carcinoma.

scientific article published on 8 February 2018

Axl promotes cutaneous squamous cell carcinoma survival through negative regulation of pro-apoptotic Bcl-2 family members.

scientific article published on 11 November 2010

Case 1. Systematic lupus erythematosus (SLE)

scientific article published on 01 January 2002

Connexins in epidermal homeostasis and skin disease.

scientific article published on 10 September 2011

Cytoskeletal protein Flightless I inhibits apoptosis, enhances tumor cell invasion and promotes cutaneous squamous cell carcinoma progression

scientific article published on 19 October 2015

Desmoglein 3 promotes cancer cell migration and invasion by regulating activator protein 1 and protein kinase C-dependent-Ezrin activation.

scientific article published on 10 June 2013

Development of an ELISA for rapid detection of anti-type VII collagen autoantibodies in epidermolysis bullosa acquisita

scientific article published on 01 January 1997

Disseminated herpes zoster in the elderly

scientific article published on 01 July 1997

Enhanced modulation of keratinocyte motility by transforming growth factor-alpha (TGF-alpha) relative to epidermal growth factor (EGF)

scientific article published on 01 April 1996

Epidermal grafting for wound healing: a review on the harvesting systems, the ultrastructure of the graft and the mechanism of wound healing.

scientific article

Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes

scientific article published on 30 May 2018

Exoming into rare skin disease: EGFR deficiency.

scientific article published in October 2014

Expanding the Phenotypic Spectrum of Olmsted Syndrome

scientific article published on 12 June 2015

Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti

scientific article published on 01 March 2002

Extracellular matrix and keratinocyte migration.

scientific article

Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population.

scientific article published on 9 March 2009

Focal PPK secondary to a novel KRT6C mutation (Pachyonychia congenita-K6c)

scientific article published on 24 August 2015

Generalized pustular psoriasis and cryptogenic organizing pneumonia.

scientific article

Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

scientific article published on 26 August 2019

Granulomatous mycosis fungoides presenting as an acquired ichthyosis

scientific article published on 01 March 2003

Hypoxia increases human keratinocyte motility on connective tissue.

scientific article published on December 1997

Hypoxia induces epidermal keratinocyte matrix metalloproteinase-9 secretion via the protein kinase C pathway.

scientific article

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

scientific article published on 12 May 2009

Induction of keratinocyte IL-8 expression and secretion by IgG autoantibodies as a novel mechanism of epidermal neutrophil recruitment in a pemphigus variant

scientific article published on 01 January 2000

Inherited palmoplantar keratodermas: the heart of the matter.

scientific article published on 22 September 2017

Integrin alpha 5 beta 1 expression is required for inhibition of keratinocyte migration by ganglioside GT1b.

scientific article

Jessner's lymphocytic infiltrate and probable discoid lupus erythematosus occurring separately in two sisters

scientific article published on 01 March 1999

Keratins and skin disease.

scientific article

Laminin-5 inhibits human keratinocyte migration.

scientific article published on June 1997

Loss of function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype

scientific article published on 02 January 2019

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

scientific article

Management of congenital ichthyoses: European guidelines of care, part one

scientific article published on 03 December 2018

Management of congenital ichthyoses: European guidelines of care, part two

scientific article published on 03 December 2018

Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa.

scientific article published in January 2016

Matrix metalloproteinases and epidermal wound repair.

scientific article published on 18 April 2012

Metalloproteinases and Wound Healing

scientific article published on April 2015

Metastatic dissemination of human ovarian epithelial carcinoma is promoted by alpha2beta1-integrin-mediated interaction with type I collagen

scientific article published on 01 January 1998

MicroRNA and transcriptome analysis in periocular Sebaceous Gland Carcinoma.

scientific article published on 14 May 2018

Modeling the Structure of Keratin 1 and 10 Terminal Domains and their Misassembly in Keratoderma.

scientific article published on 16 May 2017

Modulation of type VII collagen (anchoring fibril) expression by retinoids in human skin cells

scientific article published on 01 April 1997

Molecular cloning and characterization of a cDNA encoding canine type VII collagen non-collagenous (NC1) domain, the target antigen of autoimmune disease epidermolysis bullosa acquisita (EBA).

scientific article published in October 1998

Molecular cloning of canine bullous pemphigoid antigen 2 cDNA and immunomapping of NC16A domain by canine bullous pemphigoid autoantibodies.

scientific article

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. ⬇️

scientific article

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

scientific article

Necrobiosis lipoidica: only a minority of patients have diabetes mellitus.

scientific article

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 ⬇️

scientific article published on February 17, 2012

Noonan syndrome with multiple lentigines and associated craniosynostosis.

scientific article

Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis

scientific article published on 01 January 2011

Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes

scientific article published on 02 June 2019

Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia Congenita Consortium Meeting

scientific article (publication date: November 2014)

Pachyonychia congenita, a paradigm for rare skin disorders

scientific article published on 01 March 2020

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

scientific article published on 10 May 2007

Phosphorylation of focal adhesion kinase (pp125(FAK)) is increased in human keratinocytes induced to migrate by extracellular matrices.

scientific article published in July 2001

Plantar pain in pachyonychia congenita

scientific article published on 01 July 2018

Platelike osteoma cutis

scientific article published on 01 March 2011

RNA-seq analysis of host and viral gene expression highlights interaction between varicella zoster virus and keratinocyte differentiation.

scientific article published on 30 January 2014

Recent advances in the genetics and management of harlequin ichthyosis

scientific article

Recessive mutation in FAM83G associated with palmoplantar keratoderma and exuberant scalp hair

scientific article published on 11 November 2017

Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830).

scientific article published in November 2005

Stopping pachyonychia congenita plantar pain with a statin?

scientific article published on 06 August 2019

Striate palmoplantar keratoderma resulting from a missense mutation in DSG1.

scientific article

Subungual melanoma: a relation to direct injury?

scientific article published on 01 September 1995

Suppression of TGFβ and Angiogenesis by Type VII Collagen in Cutaneous SCC.

scientific article published on 16 October 2015

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

scientific article published on 20 September 2012

Thalidomide increases human keratinocyte migration and proliferation

scientific article published on 01 November 1999

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.

scientific article published in June 2002

The future of U.K. dermatology translational research through the Oracle of Delphi.

scientific article

The receptor tyrosine kinase Axl regulates cell-cell adhesion and stemness in cutaneous squamous cell carcinoma

scientific article published on 23 September 2013

Type VII collagen and squamous cell carcinoma.

scientific article

Ultra-deformable liposomes containing bleomycin: in vitro stability and toxicity on human cutaneous keratinocyte cell lines.

scientific article published on August 2005

Ultraviolet A irradiation upregulates type VII collagen expression in human dermal fibroblasts

scientific article published on 01 February 1997

Unilateral Beau's lines in childhood reflex sympathetic dystrophy

scientific article published on 01 September 1995

Unusual distribution of punctate dysplastic keratoses and skin cancers in sunbed users: a report of three cases

scientific article published on 01 June 2005

Update on pachyonychia congenita research

scientific article published on 13 December 2019

Zosteriform Kaposi's sarcoma

scientific article published on 01 July 2001

iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function

scientific article

List of works by Edel O'Toole

A Novel Fully Humanized 3D Skin Equivalent to Model Early Melanoma Invasion.

A profile of lipid dysregulation in harlequin ichthyosis.

Acral peeling skin syndrome associated with a novel CSTA gene mutation.

Acute sun damage and photoprotective responses in whales.

An unusual case of vulval papulonecrotic tuberculid

Analysis of hedgehog signaling in periocular sebaceous carcinoma.

Axl promotes cutaneous squamous cell carcinoma survival through negative regulation of pro-apoptotic Bcl-2 family members.

Case 1. Systematic lupus erythematosus (SLE)

Connexins in epidermal homeostasis and skin disease.

Cytoskeletal protein Flightless I inhibits apoptosis, enhances tumor cell invasion and promotes cutaneous squamous cell carcinoma progression

Desmoglein 3 promotes cancer cell migration and invasion by regulating activator protein 1 and protein kinase C-dependent-Ezrin activation.

Development of an ELISA for rapid detection of anti-type VII collagen autoantibodies in epidermolysis bullosa acquisita

Disseminated herpes zoster in the elderly

Enhanced modulation of keratinocyte motility by transforming growth factor-alpha (TGF-alpha) relative to epidermal growth factor (EGF)

Epidermal grafting for wound healing: a review on the harvesting systems, the ultrastructure of the graft and the mechanism of wound healing.

Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes

Exoming into rare skin disease: EGFR deficiency.

Expanding the Phenotypic Spectrum of Olmsted Syndrome

Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti

Extracellular matrix and keratinocyte migration.

Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population.

Focal PPK secondary to a novel KRT6C mutation (Pachyonychia congenita-K6c)

Generalized pustular psoriasis and cryptogenic organizing pneumonia.

Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

Granulomatous mycosis fungoides presenting as an acquired ichthyosis

Hypoxia increases human keratinocyte motility on connective tissue.

Hypoxia induces epidermal keratinocyte matrix metalloproteinase-9 secretion via the protein kinase C pathway.

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

Induction of keratinocyte IL-8 expression and secretion by IgG autoantibodies as a novel mechanism of epidermal neutrophil recruitment in a pemphigus variant

Inherited palmoplantar keratodermas: the heart of the matter.

Integrin alpha 5 beta 1 expression is required for inhibition of keratinocyte migration by ganglioside GT1b.

Jessner's lymphocytic infiltrate and probable discoid lupus erythematosus occurring separately in two sisters

Keratins and skin disease.

Laminin-5 inhibits human keratinocyte migration.

Loss of function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

Management of congenital ichthyoses: European guidelines of care, part one

Management of congenital ichthyoses: European guidelines of care, part two

Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa.

Matrix metalloproteinases and epidermal wound repair.

Metalloproteinases and Wound Healing

Metastatic dissemination of human ovarian epithelial carcinoma is promoted by alpha2beta1-integrin-mediated interaction with type I collagen

MicroRNA and transcriptome analysis in periocular Sebaceous Gland Carcinoma.

Modeling the Structure of Keratin 1 and 10 Terminal Domains and their Misassembly in Keratoderma.

Modulation of type VII collagen (anchoring fibril) expression by retinoids in human skin cells

Molecular cloning and characterization of a cDNA encoding canine type VII collagen non-collagenous (NC1) domain, the target antigen of autoimmune disease epidermolysis bullosa acquisita (EBA).

Molecular cloning of canine bullous pemphigoid antigen 2 cDNA and immunomapping of NC16A domain by canine bullous pemphigoid autoantibodies.

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. ⬇️

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

Necrobiosis lipoidica: only a minority of patients have diabetes mellitus.

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 ⬇️

Noonan syndrome with multiple lentigines and associated craniosynostosis.

Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis

Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes

Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia Congenita Consortium Meeting

Pachyonychia congenita, a paradigm for rare skin disorders

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

Phosphorylation of focal adhesion kinase (pp125(FAK)) is increased in human keratinocytes induced to migrate by extracellular matrices.

Plantar pain in pachyonychia congenita

Platelike osteoma cutis

RNA-seq analysis of host and viral gene expression highlights interaction between varicella zoster virus and keratinocyte differentiation.

Recent advances in the genetics and management of harlequin ichthyosis

Recessive mutation in FAM83G associated with palmoplantar keratoderma and exuberant scalp hair

Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830).

Stopping pachyonychia congenita plantar pain with a statin?

Striate palmoplantar keratoderma resulting from a missense mutation in DSG1.

Subungual melanoma: a relation to direct injury?

Suppression of TGFβ and Angiogenesis by Type VII Collagen in Cutaneous SCC.

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

Thalidomide increases human keratinocyte migration and proliferation

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.

The future of U.K. dermatology translational research through the Oracle of Delphi.

The receptor tyrosine kinase Axl regulates cell-cell adhesion and stemness in cutaneous squamous cell carcinoma

Type VII collagen and squamous cell carcinoma.

Ultra-deformable liposomes containing bleomycin: in vitro stability and toxicity on human cutaneous keratinocyte cell lines.

Ultraviolet A irradiation upregulates type VII collagen expression in human dermal fibroblasts

Unilateral Beau's lines in childhood reflex sympathetic dystrophy

Unusual distribution of punctate dysplastic keratoses and skin cancers in sunbed users: a report of three cases

Update on pachyonychia congenita research