Found: 19
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Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 22, p. 12222, doi. 10.3390/ijms222212222
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- Article
Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis.
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- Journal of Investigative Dermatology, 2006, v. 126, n. 8, p. 1770, doi. 10.1038/sj.jid.5700459
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- Article
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
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- Nature Genetics, 2012, v. 44, n. 11, p. 1272, doi. 10.1038/ng.2444
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- Article
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming.
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- Nature Genetics, 2009, v. 41, n. 5, p. 602, doi. 10.1038/ng.358
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- Publication type:
- Article
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
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- Nature Genetics, 2007, v. 39, n. 5, p. 650, doi. 10.1038/ng2020
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- Article
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
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- Nature Genetics, 2006, v. 38, n. 4, p. 441, doi. 10.1038/ng1767
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- Publication type:
- Article
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
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- Nature Genetics, 2006, v. 38, n. 3, p. 337, doi. 10.1038/ng1743
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- Article
Generation and Characterisation of Keratin 7 (K7) Knockout Mice
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- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0064404
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- Article
Altered aggregation properties of mutant ?-crystallins cause inherited cataract.
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- EMBO Journal, 2002, v. 21, n. 22, p. 6005, doi. 10.1093/emboj/cdf609
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- Article
Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin.
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- Journal of Investigative Dermatology, 2012, v. 132, n. 5, p. 1507, doi. 10.1038/jid.2011.479
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- Article
Intragenic Copy Number Variation within Filaggrin Contributes to the Risk of Atopic Dermatitis with a Dose-Dependent Effect.
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- Journal of Investigative Dermatology, 2012, v. 132, n. 1, p. 98, doi. 10.1038/jid.2011.342
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- Article
Japanese-Specific Filaggrin Gene Mutations in Japanese Patients Suffering from Atopic Eczema and Asthma.
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- 2010
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- Publication type:
- Letter
Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis.
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- 2009
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- Publication type:
- Letter
Clinical Severity Correlates with Impaired Barrier in Filaggrin-Related Eczema.
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- Journal of Investigative Dermatology, 2009, v. 129, n. 3, p. 682, doi. 10.1038/jid.2008.280
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- Article
Unique and Recurrent Mutations in the Filaggrin Gene in Singaporean Chinese Patients with Ichthyosis Vulgaris.
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- Journal of Investigative Dermatology, 2008, v. 128, n. 7, p. 1669, doi. 10.1038/jid.2008.2
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- Publication type:
- Article
Specific Filaggrin Mutations Cause Ichthyosis Vulgaris and Are Significantly Associated with Atopic Dermatitis in Japan.
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- Journal of Investigative Dermatology, 2008, v. 128, n. 6, p. 1436, doi. 10.1038/sj.jid.5701205
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- Publication type:
- Article
Prevalent and Low-Frequency Null Mutations in the Filaggrin Gene Are Associated with Early-Onset and Persistent Atopic Eczema.
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- 2008
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- Publication type:
- Letter
De Novo Occurrence of the Filaggrin Mutation p.R501X with Prevalent Mutation c.3321delA in a Japanese Family with Ichthyosis Vulgaris Complicated by Atopic Dermatitis.
- Published in:
- 2008
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- Publication type:
- Letter
Filaggrin's Fuller Figure: A Glimpse into the Genetic Architecture of Atopic Dermatitis.
- Published in:
- Journal of Investigative Dermatology, 2007, v. 127, n. 6, p. 1282, doi. 10.1038/sj.jid.5700876
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- Publication type:
- Article