Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect - Wikidata - wikimedia - TriplyDB

Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect

Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect

http://www.wikidata.org/entity/Q35609038

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Brain-skin connection: stress, inflammation and skin aging Molecular Mechanisms of Cutaneous Inflammatory Disorder: Atopic Dermatitis Molecular Genetic of Atopic dermatitis: An Update State-of-the-art of 3D cultures (organs-on-a-chip) in safety testing and pathophysiology Deciphering the complexities of atopic dermatitis: shifting paradigms in treatment approaches Genetic and epigenetic studies of atopic dermatitis Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond Skin barrier defects in atopic dermatitis Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis.Coal tar induces AHR-dependent skin barrier repair in atopic dermatitis Crystal Structure of Human Profilaggrin S100 Domain and Identification of Target Proteins Annexin II, Stratifin, and HSP27.One remarkable molecule: filaggrin.Structure and evolution of the filaggrin gene repeated region in primates The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort Low filaggrin monomer repeats in African American pediatric patients with moderate to severe atopic dermatitis In a three-dimensional reconstructed human epidermis filaggrin-2 is essential for proper cornification.An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients.Warm, humid, and high sun exposure climates are associated with poorly controlled eczema: PEER (Pediatric Eczema Elective Registry) cohort, 2004-2012.Impact of atopic dermatitis and loss-of-function mutations in the filaggrin gene on the development of occupational irritant contact dermatitis.A review of next-generation genetic testing for the dermatologist.Filaggrin - revisited.The skin-resident and migratory immune system in steady state and memory: innate lymphocytes, dendritic cells and T cells.New insights in the pathogenesis of atopic dermatitis.Molecular biology of atopic dermatitis.Unravelling the complex genetic background of atopic dermatitis: from genetic association results towards novel therapeutic strategies.Review of the 94th Annual Meeting of the British Association of Dermatologists, Glasgow 2014.Adaptive potential of genomic structural variation in human and mammalian evolution.The Genetics and Epigenetics of Atopic Dermatitis-Filaggrin and Other Polymorphisms.Molecular mechanisms in atopic eczema: insights gained from genetic studies.The interplay between genetic and environmental factors in the pathogenesis of atopic dermatitis.The tight junction gene Claudin-1 is associated with atopic dermatitis among Ethiopians.Atopic Dermatitis Susceptibility Variants in Filaggrin Hitchhike Hornerin Selective Sweep.A specific molecular signature for psoriasis and eczema.Filaggrin gene polymorphism associated with Epstein-Barr virus-associated tumors in China.Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.Immortalized N/TERT keratinocytes as an alternative cell source in 3D human epidermal models.Filaggrin loss-of-function mutations and atopic dermatitis as risk factors for hand eczema in apprentice nurses: part II of a prospective cohort study.HaCaT Keratinocytes and Primary Epidermal Keratinocytes Have Different Transcriptional Profiles of Cornified Envelope-Associated Genes to T Helper Cell Cytokines.Filaggrin genotype does not determine the skin's threshold to UV-induced erythema.Proteomic analysis of filaggrin deficiency identifies molecular signatures characteristic of atopic eczema.

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P2860

Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect

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Aileen Sandilands

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Elizabeth Pohler

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Heather J Cordell

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Karin Kroboth

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P2860

Towards a comprehensive structural variation map of an individual human genome

Mapping and sequencing of structural variation from eight human genomes

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia

Global variation in copy number in the human genome

Detection of large-scale variation in the human genome

Filaggrin in the frontline: role in skin barrier function and disease

Histidase expression in human epidermal keratinocytes: regulation by differentiation status and all-trans retinoic acid

Large-scale copy number polymorphism in the human genome

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

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