List of works - John McGrath

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

scientific article

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification

scientific article

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

scientific article

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

scientific article

Alopecia universalis associated with a mutation in the human hairless gene

scientific article

Bone marrow transplantation for recessive dystrophic epidermolysis bullosa

scientific article

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

scientific article published on 25 August 2013

Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.

scientific article published on 3 April 2008

PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia

scientific article

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

scientific article

The role of fibroblasts in tissue engineering and regeneration.

scientific article published on June 2007

The filaggrin story: novel insights into skin-barrier function and disease

scientific article published on 18 December 2007

Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14

scientific article published on December 1, 1991

Genetic diseases of junctions.

scientific article published on December 2007

Kindlin-1 controls Wnt and TGF-β availability to regulate cutaneous stem cell proliferation

scientific journal article

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

scientific article published in September 2016

Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations

scientific article

Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency

scientific article (publication date: December 1999)

Autoantibodies to extracellular matrix protein 1 in lichen sclerosus

scientific article published in The Lancet

Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability

scientific article (publication date: 15 August 2003)

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

scientific article

LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum

scientific article

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

scientific article published on 18 February 2010

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome

scientific article (publication date: February 2002)

Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa

scientific article

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR

scientific article

The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.

scientific article published on November 2007

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

scientific article published on 12 May 2009

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

scientific article

Revertant mosaicism in skin: natural gene therapy

scientific article (publication date: March 2011)

The Molecular Pathology of Progressive Symmetric Erythrokeratoderma: A Frameshift Mutation in the Loricrin Gene and Perturbations in the Cornified Cell Envelope

scientific article published on September 1, 1997

3D In vitro model of a functional epidermal permeability barrier from human embryonic stem cells and induced pluripotent stem cells

scientific article

Diseases of epidermal keratins and their linker proteins

scientific article published on 24 April 2007

Novel molecular therapies for heritable skin disorders

scientific article published on 8 December 2011

Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial.

scientific article published in November 2013

Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.

scientific article

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome

scientific article

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14

scientific article

Kindler syndrome: a focal adhesion genodermatosis.

scientific article published on 11 December 2008

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma

scientific article

Progress in epidermolysis bullosa research: toward treatment and cure

scientific article published on 15 April 2010

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome

scientific article (publication date: 15 September 2003)

The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.

scientific article published on 9 September 2011

Autosomal Recessive Epidermolysis Bullosa Simplex Due to Loss of BPAG1-e Expression

article

Integrative mRNA profiling comparing cultured primary cells with clinical samples reveals PLK1 and C20orf20 as therapeutic targets in cutaneous squamous cell carcinoma

scientific article published on 23 May 2011

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

scientific article

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

scientific article published on 07 May 2012

Matrix metalloproteinase-7 activates heparin-binding epidermal growth factor-like growth factor in cutaneous squamous cell carcinoma.

scientific article

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

scientific article

Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis.

scientific article published on 20 August 2013

List of works by John McGrath

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification

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

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

Alopecia universalis associated with a mutation in the human hairless gene

Bone marrow transplantation for recessive dystrophic epidermolysis bullosa

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.

PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia

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

The role of fibroblasts in tissue engineering and regeneration.

The filaggrin story: novel insights into skin-barrier function and disease

Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14

Genetic diseases of junctions.

Kindlin-1 controls Wnt and TGF-β availability to regulate cutaneous stem cell proliferation

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations

Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency

Autoantibodies to extracellular matrix protein 1 in lichen sclerosus

Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability

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

LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome

Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR

The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.

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

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

Revertant mosaicism in skin: natural gene therapy

The Molecular Pathology of Progressive Symmetric Erythrokeratoderma: A Frameshift Mutation in the Loricrin Gene and Perturbations in the Cornified Cell Envelope

3D In vitro model of a functional epidermal permeability barrier from human embryonic stem cells and induced pluripotent stem cells

Diseases of epidermal keratins and their linker proteins

Novel molecular therapies for heritable skin disorders

Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial.

Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14

Kindler syndrome: a focal adhesion genodermatosis.

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma

Progress in epidermolysis bullosa research: toward treatment and cure

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome

The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.

Autosomal Recessive Epidermolysis Bullosa Simplex Due to Loss of BPAG1-e Expression

Integrative mRNA profiling comparing cultured primary cells with clinical samples reveals PLK1 and C20orf20 as therapeutic targets in cutaneous squamous cell carcinoma

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

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

Matrix metalloproteinase-7 activates heparin-binding epidermal growth factor-like growth factor in cutaneous squamous cell carcinoma.

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

Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis.