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1990 1
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1993 3
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1999 2
2002 3
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2007 5
2008 6
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75 results

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Page 1
Ichthyosis vulgaris: the filaggrin mutation disease.
Thyssen JP, Godoy-Gijon E, Elias PM. Thyssen JP, et al. Br J Dermatol. 2013 Jun;168(6):1155-66. doi: 10.1111/bjd.12219. Epub 2013 May 6. Br J Dermatol. 2013. PMID: 23301728 Free PMC article. Review.
This clinical review article provides an overview of ichthyosis vulgaris epidemiology, related disorders and pathomechanisms. Not only does ichthyosis vulgaris possess a wide clinical spectrum, recent studies suggest that carriers of FLG mutations may …
This clinical review article provides an overview of ichthyosis vulgaris epidemiology, related disorders and pathomechanisms. …
3D-Organotypic Cultures to Unravel Molecular and Cellular Abnormalities in Atopic Dermatitis and Ichthyosis Vulgaris.
Leman G, Moosbrugger-Martinz V, Blunder S, Pavel P, Dubrac S. Leman G, et al. Cells. 2019 May 22;8(5):489. doi: 10.3390/cells8050489. Cells. 2019. PMID: 31121896 Free PMC article. Review.
Although FLG null mutations are strongly associated with AD, they are not sufficient to induce the disease. Moreover, most patients with ichthyosis vulgaris (IV), a monogenetic skin disease characterized by FLG homozygous, heterozygous, or compound heterozygous null …
Although FLG null mutations are strongly associated with AD, they are not sufficient to induce the disease. Moreover, most patients with …
Investigations into the FLG Null Phenotype: Showcasing the Methodology for CRISPR/Cas9 Editing of Human Keratinocytes.
Smits JPH, van den Brink NJM, Meesters LD, Hamdaoui H, Niehues H, Jansen PAM, van Vlijmen-Willems IMJJ, Rodijk-Olthuis D, Evrard C, Poumay Y, van Geel M, Hendriks WJAJ, Schalkwijk J, Zeeuwen PLJM, van den Bogaard EH. Smits JPH, et al. J Invest Dermatol. 2023 Aug;143(8):1520-1528.e5. doi: 10.1016/j.jid.2023.02.021. Epub 2023 Mar 7. J Invest Dermatol. 2023. PMID: 36893939 Free article.
Ever since the association between FLG loss-of-function variants and ichthyosis vulgaris and atopic dermatitis disease onset was identified, FLGs function has been under investigation. ...This study shows the causal phenotypical and functional consequences of FLG de …
Ever since the association between FLG loss-of-function variants and ichthyosis vulgaris and atopic dermatitis disease onset w …
Genodermatoses in Las Tunas Province, Cuba, 1989-2019.
Velázquez-Ávila Y, Valenciano-Rodríguez CR. Velázquez-Ávila Y, et al. MEDICC Rev. 2021 Apr;23(2):34. doi: 10.37757/MR2021.V23.N2.10. Epub 2021 Apr 30. MEDICC Rev. 2021. PMID: 33974602 Free article.
The forms with the highest prevalence rates were neurofibromatosis type 1 (13.6 per 100,000 population), classical Ehlers-Danlos syndrome (7.1 per 100,000), ichthyosis vulgaris (5.0 per 100,000) and cutaneous mastocytosis (2.4 per 100,000). The highest incidence rat …
The forms with the highest prevalence rates were neurofibromatosis type 1 (13.6 per 100,000 population), classical Ehlers-Danlos syndrome (7 …
FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics.
Akiyama M. Akiyama M. Br J Dermatol. 2010 Mar;162(3):472-7. doi: 10.1111/j.1365-2133.2009.09582.x. Epub 2009 Dec 2. Br J Dermatol. 2010. PMID: 19958351 Review.
Mutations in the gene encoding filaggrin (FLG) have been identified as the cause of ichthyosis vulgaris and have been shown to be major predisposing factors for atopic eczema (AE), initially in European populations. ...Mutations at any site within FLG, even mutation …
Mutations in the gene encoding filaggrin (FLG) have been identified as the cause of ichthyosis vulgaris and have been shown to …
Causes of epidermal filaggrin reduction and their role in the pathogenesis of atopic dermatitis.
Thyssen JP, Kezic S. Thyssen JP, et al. J Allergy Clin Immunol. 2014 Oct;134(4):792-9. doi: 10.1016/j.jaci.2014.06.014. Epub 2014 Jul 25. J Allergy Clin Immunol. 2014. PMID: 25065719 Review.
The levels of filaggrin and its degradation products are influenced not only by the filaggrin genotype but also by inflammation and exogenous stressors. Pertinently, filaggrin deficiency is observed in patients with atopic dermatitis regardless of filaggrin mutation status …
The levels of filaggrin and its degradation products are influenced not only by the filaggrin genotype but also by inflammation and exogenou …
Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.
Seidl-Philipp M, Schatz UA, Gasslitter I, Moosbrugger-Martinz V, Blunder S, Schossig AS, Zschocke J, Schmuth M, Gruber R. Seidl-Philipp M, et al. J Dtsch Dermatol Ges. 2020 Jan;18(1):17-25. doi: 10.1111/ddg.13968. Epub 2019 Oct 23. J Dtsch Dermatol Ges. 2020. PMID: 31642606
RESULTS: Of all 198 patients who were included in the cohort, 151 were genetically tested. 81 had ichthyosis vulgaris, 43 X-linked ichthyosis, 38 autosomal recessive congenital ichthyosis (ARCI), 9 keratinopathic ichthyosis (KPI) and one exfoliative ichthyosis. 26 i …
RESULTS: Of all 198 patients who were included in the cohort, 151 were genetically tested. 81 had ichthyosis vulgaris, 43 X-li …
Filaggrin gene defects and the risk of developing allergic disorders.
Osawa R, Akiyama M, Shimizu H. Osawa R, et al. Allergol Int. 2011 Mar;60(1):1-9. doi: 10.2332/allergolint.10-RAI-0270. Epub 2011 Dec 25. Allergol Int. 2011. PMID: 21173567 Free article. Review.
Mutations in the gene encoding filaggrin (FLG) have been identified as the cause of ichthyosis vulgaris (IV) and have been shown to be major predisposing factors for atopic dermatitis (AD). Approximately 40 loss-of-function FLG mutations have been identified in pati …
Mutations in the gene encoding filaggrin (FLG) have been identified as the cause of ichthyosis vulgaris (IV) and have been sho …
Evolving concepts of pathogenesis in atopic dermatitis and other eczemas.
Hanifin JM. Hanifin JM. J Invest Dermatol. 2009 Feb;129(2):320-2. doi: 10.1038/jid.2008.252. Epub 2008 Aug 21. J Invest Dermatol. 2009. PMID: 18719604 Free article. Review.
A major step in understanding has come from the solidly confirmed association between filaggrin null mutations of ichthyosis vulgaris and atopic dermatitis. Similar associations relating to protease and lipid defects have highlighted the role of barrier disruption t …
A major step in understanding has come from the solidly confirmed association between filaggrin null mutations of ichthyosis vulga …
Enhanced Expression of Genes Related to Xenobiotic Metabolism in the Skin of Patients with Atopic Dermatitis but Not with Ichthyosis Vulgaris.
Blunder S, Kõks S, Kõks G, Reimann E, Hackl H, Gruber R, Moosbrugger-Martinz V, Schmuth M, Dubrac S. Blunder S, et al. J Invest Dermatol. 2018 Jan;138(1):98-108. doi: 10.1016/j.jid.2017.08.036. Epub 2017 Sep 9. J Invest Dermatol. 2018. PMID: 28899689 Free article.
We found that 607 genes (476 up-regulated and 131 down-regulated by >2-fold) and 193 genes (172 up-regulated and 21 down-regulated by >2-fold) were differentially expressed when all AD or ichthyosis vulgaris patients were compared with healthy donors, respecti …
We found that 607 genes (476 up-regulated and 131 down-regulated by >2-fold) and 193 genes (172 up-regulated and 21 down-regulated by > …
75 results