about
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophyTranscriptional regulator PRDM12 is essential for human pain perceptionCopy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasiaNetherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 familiesAn unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndromeFilaggrin in the frontline: role in skin barrier function and diseaseLoss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizationsThe burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort studyCommon loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitisGenome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanismsTmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjectsA genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data.Kasabach-Merritt syndrome, kaposiform haemangioendothelioma and platelet blockade.Recent advances in the pathobiology and management of Kasabach-Merritt phenomenon.Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort.A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming.Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis.A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy.Filaggrin mutations associated with skin and allergic diseases.Heritable filaggrin disorders: the paradigm of atopic dermatitis.Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutationsA spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy.Molecular genetics of the inherited disorders of cornification: an update.The molecular genetics of the genodermatoses: progress to date and future directions.Skin barrier dysfunction measured by transepidermal water loss at 2 days and 2 months predates and predicts atopic dermatitis at 1 yearIntragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effectMutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skinExpanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.Impact of maternal, antenatal and birth-associated factors on iron stores at birth: data from a prospective maternal-infant birth cohort.Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakinFilaggrin breakdown products determine corneocyte conformation in patients with atopic dermatitisThe International TREatment of ATopic Eczema (TREAT) Registry Taskforce: An Initiative to Harmonize Data Collection across National Atopic Eczema Photo- and Systemic Therapy Registries.Spontaneous atopic dermatitis is mediated by innate immunity, with the secondary lung inflammation of the atopic march requiring adaptive immunity.
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Alan D Irvine
@nl
Alan D Irvine
@sl
Alan D. Irvine
@en
Alan D. Irvine
@es
type
label
Alan D Irvine
@nl
Alan D Irvine
@sl
Alan D. Irvine
@en
Alan D. Irvine
@es
prefLabel
Alan D Irvine
@nl
Alan D Irvine
@sl
Alan D. Irvine
@en
Alan D. Irvine
@es
P106
P1153
12760891200
P21
P31
P496
0000-0002-9048-2044