sameAs
Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposurecDNA cloning, mRNA expression, and chromosomal mapping of human and mouse periplakin genesA mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophyA homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndromeA novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophyGenetic disorders of palm skin and nailKeratin disorders: from gene to therapyGenomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 geneAn unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndromeDevelopment of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplexFilaggrin 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 studyUnique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitisCommon loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitisFilaggrin null mutations are associated with increased asthma severity in children and young adultsTmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjectsA lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assaysMutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.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.Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children.A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.Filaggrin mutations associated with skin and allergic diseases.Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome.Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.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.Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutationsGeneration and characterisation of keratin 7 (K7) knockout miceLoss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy.The molecular genetics of the genodermatoses: progress to date and future directions.Follow up of patients with ocular scarring secondary to LOC syndrome treated by amniotic membrane transplantationOne remarkable molecule: filaggrin.
P50
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P50
description
Brits onderzoeker
@nl
investigador británicu
@ast
is Professor of Human Genetics ...... ne at the University of Dundee
@en
بروفيسور في علم الوراثة البشرية
@ar
name
Irwin McLean
@ast
Irwin McLean
@ca
Irwin McLean
@de
Irwin McLean
@en
Irwin McLean
@es
Irwin McLean
@fr
Irwin McLean
@nl
Irwin McLean
@sl
أروين مكليان
@ar
type
label
Irwin McLean
@ast
Irwin McLean
@ca
Irwin McLean
@de
Irwin McLean
@en
Irwin McLean
@es
Irwin McLean
@fr
Irwin McLean
@nl
Irwin McLean
@sl
أروين مكليان
@ar
altLabel
WH McLean
@en
William Henry Irwin McLean
@en
prefLabel
Irwin McLean
@ast
Irwin McLean
@ca
Irwin McLean
@de
Irwin McLean
@en
Irwin McLean
@es
Irwin McLean
@fr
Irwin McLean
@nl
Irwin McLean
@sl
أروين مكليان
@ar
P166
P463
P106
P1153
7101988049
P19
P2070
irwin-mclean-11934
P21
P31
P496
0000-0001-5539-5757
P5463
McLean_William_Henry_Irwin
P569
1963-01-09T00:00:00Z