Lista de obras -

13-cis-retinoic acid competitively inhibits 3 alpha-hydroxysteroid oxidation by retinol dehydrogenase RoDH-4: a mechanism for its anti-androgenic effects in sebaceous glands?

artículo científico publicado en 2003

A New Look for ActaDV with More Rapid Publication.

artículo científico publicado en 2017

A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

artículo científico publicado en 2010

A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis

artículo científico publicado en 2010

Acta Dermato-Venereologica becomes its own publisher and moves towards open access

artículo científico publicado en 2005

Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients

artículo científico publicado en 2003

Both all-trans retinoic acid and cytochrome P450 (CYP26) inhibitors affect the expression of vitamin A metabolizing enzymes and retinoid biomarkers in organotypic epidermis

artículo científico publicado en 2009

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

artículo científico publicado en 2009

Chemical chaperones protect epidermolysis bullosa simplex keratinocytes from heat stress-induced keratin aggregation: involvement of heat shock proteins and MAP kinases

artículo científico publicado en 2011

Congenital ichthyosis: an overview of current and emerging therapies

artículo científico publicado en 2008

Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin

artículo científico publicado en 2006

Differential effects of UV irradiation on nuclear retinoid receptor levels in cultured keratinocytes and melanocytes

artículo científico publicado en 2003

Epidermolysis bullosa care in Scandinavia

scientific article published on April 2010

Expression of retinoid-regulated genes in lamellar ichthyosis vs. healthy control epidermis: changes after oral treatment with liarozole

artículo científico publicado en 2009

Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris

artículo científico publicado en 2011

Five new homozygous mutations in the KIND1 gene in Kindler syndrome.

artículo científico publicado en 2007

From the melanoma incidence in Australia to the role of essential fatty acids in acne

scientific article published on 01 September 2014

Generalized and naevoid epidermolytic ichthyosis in Denmark: clinical and mutational findings

artículo científico publicado en 2013

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.

artículo científico publicado en 2013

Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients

artículo científico publicado en 2009

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases

artículo científico publicado en 2011

Health-related quality of life among patients with ichthyosis

artículo científico publicado en 2004

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

article

Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism

artículo científico publicado en 2012

Immunofluorescence localization of nuclear retinoid receptors in psoriasis versus normal human skin

artículo científico publicado en 2004

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment

artículo científico publicado en 2017

Keratinocyte differentiation induced by calcium, phorbol ester or interferon-gamma elicits distinct changes in the retinoid signalling pathways

artículo científico publicado en 2010

Keratins 2 and 4/13 in reconstituted human skin are reciprocally regulated by retinoids binding to nuclear receptor RARalpha

artículo científico publicado en 2010

Moving towards open access: high-quality research and publication is essential, but visibility of the work is critical

artículo científico publicado en 2010

Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome

scientific article published on 23 July 2009

News and views from the editor

artículo científico publicado en 2009

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis.

artículo científico publicado en 2011

Oral alitretinoin in congenital ichthyosis: a pilot study shows variable effects and a risk of central hypothyroidism

scientific article published on 01 May 2012

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

artículo científico publicado en 2014

Patients with Congenital Ichthyosis and TGM1 Mutations Overexpress Other ARCI Genes in the Skin: Part of a Barrier Repair Response?

article

Pleomorphic ichthyosis: proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scaling

artículo científico publicado en 2010

Quality of life in adults with congenital ichthyosis

artículo científico publicado en 2003

Quantitative image analysis of protein expression and colocalisation in skin sections.

artículo científico publicado en 2017

Recurrent pyoderma gangrenosum and cystic acne associated with leucocyte adhesion deficiency due to novel mutations in ITGB2: successful treatment with infliximab and adalimumab

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

artículo científico publicado en 2010

Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients

artículo científico publicado en 2009

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

artículo científico publicado en 2016

Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis

scientific article published on 01 November 2003

Sweat gland morphology and periglandular innervation in essential palmar hyperhidrosis before and after treatment with intradermal botulinum toxin

artículo científico publicado en 2004

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

artículo científico publicado en 2008

The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases.

artículo científico publicado en 2003

The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis

artículo científico publicado en 2012

The involvement of cytochrome p450 (CYP) 26 in the retinoic acid metabolism of human epidermal keratinocytes

artículo científico publicado en 2008

[Burdensome rules for clinical trials are not in proportion to benefits for the patient]

artículo científico publicado en 2005

[The Berzelius symposium on genetic dermatoses: cutaneous gene therapy--potential treatment of severe skin diseases]

scientific article published on 01 May 2002

Lista de obras de

13-cis-retinoic acid competitively inhibits 3 alpha-hydroxysteroid oxidation by retinol dehydrogenase RoDH-4: a mechanism for its anti-androgenic effects in sebaceous glands?

A New Look for ActaDV with More Rapid Publication.

A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis

Acta Dermato-Venereologica becomes its own publisher and moves towards open access

Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients

Both all-trans retinoic acid and cytochrome P450 (CYP26) inhibitors affect the expression of vitamin A metabolizing enzymes and retinoid biomarkers in organotypic epidermis

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

Chemical chaperones protect epidermolysis bullosa simplex keratinocytes from heat stress-induced keratin aggregation: involvement of heat shock proteins and MAP kinases

Congenital ichthyosis: an overview of current and emerging therapies

Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin

Differential effects of UV irradiation on nuclear retinoid receptor levels in cultured keratinocytes and melanocytes

Epidermolysis bullosa care in Scandinavia

Expression of retinoid-regulated genes in lamellar ichthyosis vs. healthy control epidermis: changes after oral treatment with liarozole

Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris

Five new homozygous mutations in the KIND1 gene in Kindler syndrome.

From the melanoma incidence in Australia to the role of essential fatty acids in acne

Generalized and naevoid epidermolytic ichthyosis in Denmark: clinical and mutational findings

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.

Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases

Health-related quality of life among patients with ichthyosis

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

Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism

Immunofluorescence localization of nuclear retinoid receptors in psoriasis versus normal human skin

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment

Keratinocyte differentiation induced by calcium, phorbol ester or interferon-gamma elicits distinct changes in the retinoid signalling pathways

Keratins 2 and 4/13 in reconstituted human skin are reciprocally regulated by retinoids binding to nuclear receptor RARalpha

Moving towards open access: high-quality research and publication is essential, but visibility of the work is critical

Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome

News and views from the editor

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis.

Oral alitretinoin in congenital ichthyosis: a pilot study shows variable effects and a risk of central hypothyroidism

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

Patients with Congenital Ichthyosis and TGM1 Mutations Overexpress Other ARCI Genes in the Skin: Part of a Barrier Repair Response?

Pleomorphic ichthyosis: proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scaling

Quality of life in adults with congenital ichthyosis

Quantitative image analysis of protein expression and colocalisation in skin sections.

Recurrent pyoderma gangrenosum and cystic acne associated with leucocyte adhesion deficiency due to novel mutations in ITGB2: successful treatment with infliximab and adalimumab

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

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients

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

Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis

Sweat gland morphology and periglandular innervation in essential palmar hyperhidrosis before and after treatment with intradermal botulinum toxin

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases.

The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis

The involvement of cytochrome p450 (CYP) 26 in the retinoic acid metabolism of human epidermal keratinocytes

[Burdensome rules for clinical trials are not in proportion to benefits for the patient]

[The Berzelius symposium on genetic dermatoses: cutaneous gene therapy--potential treatment of severe skin diseases]