Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
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Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposureInterventions for congenital ichthyosisPsychological and educational interventions for atopic eczema in childrenLoss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin diseaseElastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessingZNF750 is a p63 target gene that induces KLF4 to drive terminal epidermal differentiationMolecular identification and expression analysis of filaggrin-2, a member of the S100 fused-type protein familyA single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosisMatriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndromeStratum corneum dysfunction in dandruffRecent advances in understanding ichthyosis pathogenesisGenetics of asthma: an introduction for the clinicianPeriodic Exposure of Keratinocytes to Cold Physical Plasma: An In Vitro Model for Redox-Related Diseases of the Skin.Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyondDeimination of human filaggrin-2 promotes its proteolysis by calpain 1Filaggrin in the frontline: role in skin barrier function and diseaseThe human epidermal differentiation complex: cornified envelope precursors, S100 proteins and the 'fused genes' familyAn update of the defensive barrier function of skinTmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects12R-lipoxygenase deficiency disrupts epidermal barrier functionDisruption of epidermal specific gene expression and delayed skin development in AP-2 gamma mutant miceWhole-genome sequencing in an autism multiplex familySkin barrier defects in atopic dermatitisFilaggrin deficiency confers a paracellular barrier abnormality that reduces inflammatory thresholds to irritants and haptensNatural Selection in the Great ApesSingle nucleotide polymorphism-based genome-wide linkage analysis in Japanese atopic dermatitis familiesCarrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort.Filaggrin-null mutations are associated with increased maturation markers on Langerhans cells.Filaggrin gene mutation c.3321delA is associated with various clinical features of atopic dermatitis in the Chinese Han population.3D In vitro model of a functional epidermal permeability barrier from human embryonic stem cells and induced pluripotent stem cells.A milieu of regulatory elements in the epidermal differentiation complex syntenic block: implications for atopic dermatitis and psoriasis.The Jekyll and Hyde functions of caspases.Filaggrin gene defects are independent risk factors for atopic asthma in a Polish population: a study in ECAP cohortCoherent somatic mutation in autoimmune disease.A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming.An update on the genetics of atopic dermatitis: scratching the surface in 2009.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.Filaggrin-deficient mice exhibit TH17-dominated skin inflammation and permissiveness to epicutaneous sensitization with protein antigenRegulation of the dynamic chromatin architecture of the epidermal differentiation complex is mediated by a c-Jun/AP-1-modulated enhancer.The infectious aspects of atopic dermatitis.
P2860
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P2860
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
description
2006 nî lūn-bûn
@nan
2006 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
@ast
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
@en
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
@nl
type
label
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
@ast
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
@en
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
@nl
prefLabel
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
@ast
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
@en
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
@nl
P2093
P50
P356
P1433
P1476
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
@en
P2093
Aileen Sandilands
Alan T Evans
Ana Terron-Kwiatkowski
Ann Sergeant
Colin S Munro
David R Goudie
Frances J D Smith
Gehan Arseculeratne
Gráinne O'Regan
Haihui Liao
P2888
P304
P356
10.1038/NG1743
P407
P577
2006-01-29T00:00:00Z