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CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris

Journal of the American Academy of Dermatology, 2018-09, Vol.79 (3), p.487-494

2018

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Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients

Journal of investigative dermatology, 2010-02, Vol.130 (2), p.438-443

2010

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Establishment and Utility of SwedAD: A Nationwide Swedish Registry for Patients with Atopic Dermatitis Receiving Systemic Pharmacotherapy

Acta dermato-venereologica, 2023-01, Vol.103, p.adv7312-adv7312

2023

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Quantitative image analysis of protein expression and colocalisation in skin sections

Experimental dermatology, 2018-02, Vol.27 (2), p.196-199

2018

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Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy

JAAD Case Reports, 2023-01, Vol.31, p.133-136

2023

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Characterization of immortalized human epidermolysis bullosa simplex (KRT5) cell lines: Trimethylamine N-oxide protects the keratin cytoskeleton against disruptive stress condition

Journal of dermatological science, 2009-03, Vol.53 (3), p.198-206

2009

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Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients

Acta dermato-venereologica, 2016-11, Vol.96 (7), p.932-937

2016

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Ichthyosis patients with TGM1 mutations show aberrant transcriptomic expression

Journal of investigative dermatology, 2017, Vol.137 (10), p.S214

2017

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Exploration of novel candidate genes involved in epidermal keratinocyte differentiation and skin barrier repair in man

Differentiation (London), 2021-05, Vol.119, p.19-27

2021

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Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?

Experimental dermatology, 2019-10, Vol.28 (10), p.1164-1171

2019

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Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome

British journal of dermatology (1951), 2016-02, Vol.174 (2), p.444-448

2016

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Patients with congenital ichthyosis and TGM 1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?

Experimental dermatology, 2019-10, Vol.28 (10), p.1164-1171

2019

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Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

Human molecular genetics, 2017-03, Vol.26 (6), p.1070-1077

2017

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Proteins causing autosomal congenital recessive ichthyosis (ARCI) colocalize in differentiated primary keratinocytes and the interactions are altered in cells from patients with TGM1 mutations

Journal of investigative dermatology, 2017, Vol.137 (10), p.S210

2017

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Congenital Ichthyosis : An Overview of Current and Emerging Therapies

Acta dermato-venereologica, 2008, Vol.88 (1), p.4-14

2008

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Quantitative analysis of immunofluorescence and in situ PLA staining using CellProfiler reveals impaired epidermal lipid processing pathway in ARCI patients with CYP4F22 mutations

Journal of investigative dermatology, 2016, Vol.136 (9), p.S180

2016

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Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda

Acta dermato-venereologica, 2014-01, Vol.94 (6), p.707-710

2014

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Detection of keratin filaments and aggregates in HeLa cells transfected with fluorescently tagged keratin 1 and 10 using a high content imaging assay

Journal of investigative dermatology, 2013, Vol.133, p.S130

2013

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Immortalized keratinocytes derived from patients with epidermolytic ichthyosis reproduce the disease phenotype: a useful in vitro model for testing new treatments

British journal of dermatology (1951), 2011-02, Vol.164 (2), p.263-272

2011

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Keratin 4 Upregulation by Retinoic Acid In Vivo: A Sensitive Marker for Retinoid Bioactivity in Human Epidermis1

Journal of investigative dermatology, 2000-03, Vol.114 (3), p.487-493

2000

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A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations

Clinical and experimental dermatology, 2014-01, Vol.39 (1), p.30-34

2014

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Ultrastructure of desmosomes as a diagnostic clue in a case of congenital skin fragility syndrome

Journal of investigative dermatology, 2014, Vol.134 (4), p.1172

2014

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Ultrastructure of desmosomes as a diagnostic clue in a case of congenital skin fragility syndrome

Journal of investigative dermatology, 2014, Vol.134 (4), p.1176

2014

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Reply to Nellen et al's comment on the classification of clinical/genetic variants of Mal de Meleda

Acta dermato-venereologica, 2015-11, Vol.95 (8), p.1034-1035

2015

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CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris

Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients

Establishment and Utility of SwedAD: A Nationwide Swedish Registry for Patients with Atopic Dermatitis Receiving Systemic Pharmacotherapy

Quantitative image analysis of protein expression and colocalisation in skin sections

Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy

Characterization of immortalized human epidermolysis bullosa simplex (KRT5) cell lines: Trimethylamine N-oxide protects the keratin cytoskeleton against disruptive stress condition

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients

Ichthyosis patients with TGM1 mutations show aberrant transcriptomic expression

Exploration of novel candidate genes involved in epidermal keratinocyte differentiation and skin barrier repair in man

Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?

Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome

Patients with congenital ichthyosis and TGM 1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

Proteins causing autosomal congenital recessive ichthyosis (ARCI) colocalize in differentiated primary keratinocytes and the interactions are altered in cells from patients with TGM1 mutations

Congenital Ichthyosis : An Overview of Current and Emerging Therapies

Quantitative analysis of immunofluorescence and in situ PLA staining using CellProfiler reveals impaired epidermal lipid processing pathway in ARCI patients with CYP4F22 mutations

Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda

Detection of keratin filaments and aggregates in HeLa cells transfected with fluorescently tagged keratin 1 and 10 using a high content imaging assay

Immortalized keratinocytes derived from patients with epidermolytic ichthyosis reproduce the disease phenotype: a useful in vitro model for testing new treatments

Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2

Keratin 4 Upregulation by Retinoic Acid In Vivo: A Sensitive Marker for Retinoid Bioactivity in Human Epidermis1

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations

Ultrastructure of desmosomes as a diagnostic clue in a case of congenital skin fragility syndrome

Ultrastructure of desmosomes as a diagnostic clue in a case of congenital skin fragility syndrome

Reply to Nellen et al's comment on the classification of clinical/genetic variants of Mal de Meleda

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