Browsing by Author "IRVINE, ALAN"
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Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.
IRVINE, ALAN (2015)Caspase recruitment family member 14 (CARD14, also known as CARMA2), is a scaffold protein that mediates NF-κB signal transduction in skin keratinocytes. Gain-of-function CARD14 mutations have been documented in familial ... -
Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk.
IRVINE, ALAN (2008)BACKGROUND: Polymorphisms in the serine protease inhibitor gene serine peptidase inhibitor Kazal type 5 (SPINK5) and the serine protease kallikrein-related peptidase 7 gene (KLK7) appear to confer risk to eczema in some ... -
Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort
IRVINE, ALAN (2009)Background: Filaggrin is a major protein in the epidermis. Several mutations in the filaggrin gene (FLG) have been associated with a number of conditions. Filaggrin is expressed in the tympanic membrane and could alter its ... -
Childhood eczema and the importance of the physical environment.
IRVINE, ALAN (2013)In this issue, Simpson and colleagues report a large-scale ecological study that reminds us of the importance of physical environmental factors in the development of atopic dermatitis. The mechanisms through which these ... -
Clumping factor B promotes adherence of Staphylococcus aureus to corneocytes in atopic dermatitis
IRVINE, ALAN; GEOGHEGAN, JOAN; FOSTER, TIMOTHY; FALLON, PADRAIC (2017) -
Commentary: Methotrexate and ciclosporin in the treatment of severe eczema in children.
IRVINE, ALAN (2014) -
Congenital reticular ichthyosiform erythroderma.
IRVINE, ALAN (2016) -
Crossing barriers; restoring barriers? Filaggrin protein replacement takes a bow.
IRVINE, ALAN (2014)In this issue of the Journal, Stout and colleagues report a novel and creative approach to replacement of genetically determined absence or deficiency of epidermal proteins. While these early data are certainly interesting, ... -
Current Perspectives Series: Filaggrin in Atopic Dermatitis
IRVINE, ALAN (Elsevier, 2008)The recent identification of loss-of-function mutations in the structural protein filaggrin as a widely replicated major risk factor for eczema sheds new light on disease mechanisms in eczema, a disease that had heretofore ... -
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
IRVINE, ALAN (2013)The relative contribution of immunological dysregulation and impaired epithelial barrier function to allergic diseases is still a matter of debate. Here we describe a new syndrome featuring severe dermatitis, multiple ... -
Development of Allele-Specific Therapeutic siRNA in Meesmann Epithelial Corneal Dystrophy.
IRVINE, ALAN (2011)BACKGROUND: Meesmann epithelial corneal dystrophy (MECD) is an inherited eye disorder caused by dominant-negative mutations in either keratins K3 or K12, leading to mechanical fragility of the anterior corneal epithelium, ... -
Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues.
IRVINE, ALAN (PubMed, 2007)Epithelia are the first line of defence between the human body and its environment. For example, the skin, the largest organ in the body, is covered by the epidermis ? a multilayered, stratified, cornified epithelium that ... -
Double trouble: homozygous dominant mutations and hair loss in pachyonychia congenita.
IRVINE, ALAN (2012) -
Effect of filaggrin breakdown products on growth of and protein expression by Staphylococcus aureus
FALLON, PADRAIC; IRVINE, ALAN; FOSTER, TIMOTHY (2011) -
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
IRVINE, ALAN (2015)Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole ... -
Filaggrin breakdown products determine corneocyte conformation in patients with atopic dermatitis.
IRVINE, ALAN (2015)Loss-of-function (LOF) mutations in the filaggrin gene (FLG) are a well-replicated risk factor for atopic dermatitis (AD) and are known to cause an epidermal barrier defect. The nature of this barrier defect is not fully ... -
Filaggrin in the frontline: role in skin barrier function and disease.
IRVINE, ALAN (Company of Biologists, 2009)Recently, loss-of-function mutations in FLG, the human gene encoding profilaggrin and filaggrin, have been identified as the cause of the common skin condition ichthyosis vulgaris (which is characterised by dry, scaly ... -
Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency.
IRVINE, ALAN; SAUNDERS, SEAN; FALLON, PADRAIC (2012)Background Filaggrin (FLG) mutations result in reduced stratum corneum (SC) natural moisturizing factor (NMF) components and consequent increased SC pH. Because higher pH activates SC protease activity, we hypothesized ... -
Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis.
IRVINE, ALAN (2014)Background Atopic dermatitis (AD; eczema) is characterized by a widespread abnormality in cutaneous barrier function and propensity to inflammation. Filaggrin is a multifunctional protein and plays a key role in skin barrier ...