UB Paderborn / Katalog / Suche / in CDI

Keratins and skin disease

Cell and tissue research, 2015-06, Vol.360 (3), p.583-589

2015

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Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

Nature genetics, 2007-05, Vol.39 (5), p.650-654

2007

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Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy

PloS one, 2011-12, Vol.6 (12), p.e28582-e28582

2011

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Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis

Journal of allergy and clinical immunology, 2007-02, Vol.119 (2), p.434-440

2007

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Filaggrin null mutations are associated with increased asthma severity in children and young adults

Journal of allergy and clinical immunology, 2007-07, Vol.120 (1), p.64-68

2007

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Generation and characterisation of keratin 7 (K7) knockout mice

PloS one, 2013-05, Vol.8 (5), p.e64404-e64404

2013

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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Nature genetics, 2006-03, Vol.38 (3), p.337-342

2006

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The Phenotypic and Molecular Genetic Features of Pachyonychia Congenita

Journal of investigative dermatology, 2011-05, Vol.131 (5), p.1015-1017

2011

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Development of Allele-Specific Therapeutic siRNA for Keratin 5 Mutations in Epidermolysis Bullosa Simplex

Journal of investigative dermatology, 2011-10, Vol.131 (10), p.2079-2086

2011

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Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view

European journal of pediatrics, 2009-10, Vol.168 (10), p.1269-1272

2009

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Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants

Journal of allergy and clinical immunology, 2018-02, Vol.141 (2), p.814-816

2018

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Statins Downregulate K6a Promoter Activity: A Possible Therapeutic Avenue for Pachyonychia Congenita

Journal of investigative dermatology, 2011-05, Vol.131 (5), p.1045-1052

2011

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A Large Mutational Study in Pachyonychia Congenita

Journal of investigative dermatology, 2011-05, Vol.131 (5), p.1018-1024

2011

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In vivo gene silencing following non-invasive siRNA delivery into the skin using a novel topical formulation

Journal of controlled release, 2014-12, Vol.196, p.355-362

2014

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Generic and Personalized RNAi-Based Therapeutics for a Dominant-Negative Epidermal Fragility Disorder

Journal of investigative dermatology, 2012-06, Vol.132 (6), p.1627-1635

2012

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PSENEN mutation in coexistent hidradenitis suppurativa and dowling-degos disease

Indian Dermatology Online Journal, 2021-01, Vol.12 (1), p.147-149

2021

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Single-Nucleotide-Specific siRNA Targeting in a Dominant-Negative Skin Model

Journal of investigative dermatology, 2008-03, Vol.128 (3), p.594-605

2008

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Genotype–Phenotype Correlations among Pachyonychia Congenita Patients with K16 Mutations

Journal of investigative dermatology, 2011-05, Vol.131 (5), p.1025-1028

2011

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Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita

Journal of dermatological science, 2008-09, Vol.51 (3), p.151-157

2008

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Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Nature genetics, 2013-10, Vol.45 (10), p.1244-1248

2013

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Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy

Investigative ophthalmology & visual science, 2013-01, Vol.54 (1), p.494-502

2013

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Keratin K6c Mutations Cause Focal Palmoplantar Keratoderma

Journal of investigative dermatology, 2010-02, Vol.130 (2), p.425-429

2010

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Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita

Journal of investigative dermatology, 2012-07, Vol.132 (7), p.1921-1924

2012

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Keratins and skin disease

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy

Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis

Filaggrin null mutations are associated with increased asthma severity in children and young adults

Generation and characterisation of keratin 7 (K7) knockout mice

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

The Phenotypic and Molecular Genetic Features of Pachyonychia Congenita

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

Development of Allele-Specific Therapeutic siRNA for Keratin 5 Mutations in Epidermolysis Bullosa Simplex

Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants

Statins Downregulate K6a Promoter Activity: A Possible Therapeutic Avenue for Pachyonychia Congenita

A Large Mutational Study in Pachyonychia Congenita

In vivo gene silencing following non-invasive siRNA delivery into the skin using a novel topical formulation

Generic and Personalized RNAi-Based Therapeutics for a Dominant-Negative Epidermal Fragility Disorder

PSENEN mutation in coexistent hidradenitis suppurativa and dowling-degos disease

Single-Nucleotide-Specific siRNA Targeting in a Dominant-Negative Skin Model

Genotype–Phenotype Correlations among Pachyonychia Congenita Patients with K16 Mutations

Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy

Keratin K6c Mutations Cause Focal Palmoplantar Keratoderma

Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita

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