| Status | Finished |
|---|---|
| Effective start/end date | 1/08/12 → 30/04/19 |
Funding
- Wellcome Trust (098439/Z/12/Z): £5,869,875.00
Related content
Research Outputs
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
Research output: Contribution to journal › Article
Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during long-term isotretinoin treatment of epidermolytic ichthyosis due to a novel deletion mutation in KRT10
Research output: Contribution to journal › Letter
Old King Coal - molecular mechanisms underlying an ancient treatment for atopic eczema
Research output: Contribution to journal › Editorial
Novel CARD11 mutations in human cutaneous squamous cell carcinoma lead to aberrant NF-κB regulation
Research output: Contribution to journal › Article
Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants
Research output: Contribution to journal › Letter
Mutations in GRHL2 result in an autosomal-recessive ectodermal dysplasia syndrome
Research output: Contribution to journal › Article
New and recurrent AAGAB mutations in punctate palmoplantar keratoderma
Research output: Contribution to journal › Letter
Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy
Research output: Contribution to journal › Article
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility
Research output: Contribution to journal › Article
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
Research output: Contribution to journal › Article
Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients
Research output: Contribution to journal › Letter
Lysyl hydroxylase 3 localizes to epidermal basement membrane and Is reduced in patients with Recessive Dystrophic Epidermolysis Bullosa
Research output: Contribution to journal › Article
Generation and characterisation of keratin 7 (K7) knockout mice
Research output: Contribution to journal › Article
A Lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays
Research output: Contribution to journal › Article
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis
Research output: Contribution to journal › Article
Loss-of-function mutations in the gene encoding filaggrin are not strongly associated with chronic actinic dermatitis
Research output: Contribution to journal › Letter
NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis
Research output: Contribution to journal › Article
Filaggrin loss-of-function mutations and atopic dermatitis as risk factors for hand eczema in apprentice nurses: part II of a prospective cohort study
Research output: Contribution to journal › Article
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory
Research output: Contribution to journal › Article
Atopic dermatitis and disease severity are the main risk factors for food sensitization in exclusively breastfed infants
Research output: Contribution to journal › Article
Keratin 12 missense mutation induces the unfolded protein response and apoptosis in meesmann epithelial corneal dystrophy
Research output: Contribution to journal › Article
South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin
Research output: Contribution to journal › Letter
High-density genotyping study identifies four new susceptibility loci for atopic dermatitis
Research output: Contribution to journal › Article
Norspermidine is not a self-produced trigger for biofilm disassembly
Research output: Contribution to journal › Article
Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis
Research output: Contribution to journal › Article
The molecular genetic analysis of the expanding pachyonychia congenita case collection
Research output: Contribution to journal › Article
In vivo gene silencing following non-invasive siRNA delivery into the skin using a novel topical formulation
Research output: Contribution to journal › Article
Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma
Research output: Contribution to journal › Letter
The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort
Research output: Contribution to journal › Article
Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms
Research output: Contribution to journal › Article
Relative Abundance of Transcripts (RATs): Identifying differential isoform abundance from RNA-seq [version 1; referees: 1 approved, 2 approved with reservations]
Research output: Contribution to journal › Article
Heritable filaggrin disorders: the paradigm of atopic dermatitis
Research output: Contribution to journal › Article
Report of the 10th annual international pachyonychia congenita consortium meeting
Research output: Contribution to journal › Article
Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis
Research output: Contribution to journal › Letter
Reliability and validity of genotyping filaggrin null mutations
Research output: Contribution to journal › Letter
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma
Research output: Contribution to journal › Article
Atopic dermatitis increases the effect of exposure to peanut antigen in dust on peanut sensitization and likely peanut allergy
Research output: Contribution to journal › Article
Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling
Research output: Contribution to journal › Letter
Peanut allergy: effect of environmental peanut exposure in children with filaggrin loss-of-function mutations
Research output: Contribution to journal › Article
Emollient enhancement of the skin barrier from birth offers effective atopic dermatitis prevention
Research output: Contribution to journal › Article
Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease
Research output: Contribution to journal › Article
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin
Research output: Contribution to journal › Article
Filaggrin breakdown products determine corneocyte conformation in patients with atopic dermatitis
Research output: Contribution to journal › Article
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Research output: Contribution to journal › Article
Keratin 9 Is Required for the Structural Integrity and Terminal Differentiation of the Palmoplantar Epidermis
Research output: Contribution to journal › Article
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
Research output: Contribution to journal › Article
Novel mutations in desmoglein 1: Focal palmoplantar keratoderma in milder phenotypes
Research output: Contribution to journal › Letter
Type VII collagen regulates expression of OATP1B3, promotes front-to-rear polarity and increases structural organisation in 3D spheroid cultures of RDEB tumour keratinocytes
Research output: Contribution to journal › Article
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
Research output: Contribution to journal › Letter
Expanding the phenotypic spectrum of Olmsted syndrome
Research output: Contribution to journal › Letter
Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects
Research output: Contribution to journal › Article
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR
Research output: Contribution to journal › Article
Punctate Palmoplantar Keratoderma Type 1: A Novel AAGAB Mutation and Efficacy of Etretinate
Research output: Contribution to journal › Article
Discovery of Soft-Drug Topical Tool Modulators of Sphingosine-1-phosphate Receptor 1 (S1PR1)
Research output: Contribution to journal › Article
Filaggrin gene mutation associations with peanut allergy persist despite variations in peanut allergy diagnostic criteria or asthma status
Research output: Contribution to journal › Letter