Search Results - "VIRTANEN, Marie"

CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris by Craiglow, Brittany G., Boyden, Lynn M., Hu, Ronghua, Virtanen, Marie, Su, John, Rodriguez, Gabriela, McCarthy, Catherine, Luna, Paula, Larralde, Margarita, Humphrey, Stephen, Holland, Kristen E., Hogeling, Marcia, Hidalgo-Matlock, Benjamin, Ferrari, Bruno, Fernandez-Faith, Esteban, Drolet, Beth, Cordoro, Kelly M., Bowcock, Anne M., Antaya, Richard J., Ashack, Kurt, Ashack, Richard J., Lifton, Richard P., Milstone, Leonard M., Paller, Amy S., Choate, Keith A.

“…Heterozygous mutations in caspase recruitment domain family member 14 gene (CARD14) have been shown to be associated with psoriasis and familial pityriasis…”
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Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients by Vahlquist, Anders, Bygum, Anette, Gånemo, Agneta, Virtanen, Marie, Hellström-Pigg, Maritta, Strauss, Gitte, Brandrup, Flemming, Fischer, Judith

“…Infants born with autosomal recessive congenital ichthyosis (ARCI) are often encapsulated in a collodion membrane, which shows a lamellar or erythrodermic type…”
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Establishment and Utility of SwedAD: A Nationwide Swedish Registry for Patients with Atopic Dermatitis Receiving Systemic Pharmacotherapy by Alsterholm, Mikael, Svedbom, Axel, Anderson, Chris D, Holm Sommar, Lena, Ivert, Lina U, Josefson, Anna, Von Kobyletzki, Laura, Lindberg, Magnus, Lundeberg, Lena, Lundqvist, Maria, Nylander, Elisabet, Sandström Falk, MariHelen, Shayesteh, Alexander, Sigurdardottir, Gunnthorunn, Sonesson, Andreas, Svensson, Åke, Virtanen, Marie, Vrang, Sophie, Wahlgren, Carl-Fredrik, Bradley, Maria, Johansson, Emma K

“…SwedAD, a Swedish nationwide registry for patients with atopic dermatitis receiving systemic pharmacotherapy, was launched on 1 September 2019. We describe…”
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Quantitative image analysis of protein expression and colocalisation in skin sections by Zhang, Hanqian, Ericsson, Maja, Virtanen, Marie, Weström, Simone, Wählby, Carolina, Vahlquist, Anders, Törmä, Hans

“…Immunofluorescence (IF) and in situ proximity ligation assay (isPLA) are techniques that are used for in situ protein expression and colocalisation analysis,…”
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Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy by Eriksson, Daniel, Gyll, David, Virtanen, Marie, Dahl, Niklas, Klar, Joakim, Stattin, Eva-Lena

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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 by Chamcheu, Jean Christopher, Lorié, Elizabeth Pavez, Akgul, Baki, Bannbers, Elin, Virtanen, Marie, Gammon, Luke, Moustakas, Aristidis, Navsaria, Harshad, Vahlquist, Anders, Törmä, Hans

“…Abstract Background Epidermolysis bullosa simplex (EBS) is an autosomal inherited mechano-bullous disease, characterized by intraepidermal blistering and skin…”
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Exploration of novel candidate genes involved in epidermal keratinocyte differentiation and skin barrier repair in man by Zhang, Hanqian, Weström, Simone, Kappelin, Per, Virtanen, Marie, Vahlquist, Anders, Törmä, Hans

“…A proper skin barrier function requires constant formation of stratum corneum, i.e. the outermost layer of epidermis composed of terminally differentiated…”
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Ichthyosis patients with TGM1 mutations show aberrant transcriptomic expression by Zhang, Hanqian, Vahlquist, Anders, Virtanen, Marie, Törmä, Hans

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Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response? by Zhang, Hanqian, Ericsson, Maja, Weström, Simone, Vahlquist, Anders, Virtanen, Marie, Törmä, Hans

“…Autosomal recessive congenital ichthyosis (ARCI) is a group of monogenic skin disorders caused by mutations in any of at least 12 different genes, many of…”
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Keratin 4 Upregulation by Retinoic Acid In Vivo: A Sensitive Marker for Retinoid Bioactivity in Human Epidermis1 by Virtanen, Marie, Törmä, Hans, Vahlquist, Anders

“…Retinoids affect keratinocyte differentiation and modulate the expression of many epidermal proteins, among them cellular retinoic acid-binding protein II and…”
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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? by Zhang, Hanqian, Ericsson, Maja, Weström, Simone, Vahlquist, Anders, Virtanen, Marie, Törmä, Hans

“…Abstract Autosomal recessive congenital ichthyosis ( ARCI ) is a group of monogenic skin disorders caused by mutations in any of at least 12 different genes,…”
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Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients by Pigg, Maritta Hellström, Bygum, Anette, Gånemo, Agneta, Virtanen, Marie, Brandrup, Flemming, Zimmer, Andreas D, Hotz, Alrun, Vahlquist, Anders, Fischer, Judith

“…Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin…”
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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 by Pettersson, M. H., Zhang, Hanqian, Virtanen, Marie, Vahlquist, Anders, Törmä, Hans

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Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26 by Gudmundsson, Sanna, Wilbe, Maria, Ekvall, Sara, Ameur, Adam, Cahill, Nicola, Alexandrov, Ludmil B, Virtanen, Marie, Hellström Pigg, Maritta, Vahlquist, Anders, Törmä, Hans, Bondeson, Marie-Louise

“…Revertant mosaicism (RM) is a naturally occurring phenomenon where the pathogenic effect of a germline mutation is corrected by a second somatic event…”
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Congenital Ichthyosis : An Overview of Current and Emerging Therapies by VAHLQUIST, Anders, GANEMO, Agneta, VIRTANEN, Marie

“…Congenital ichthyosis is a collective name for a group of monogenetic disorders of cornification, sometimes associated with systemic symptoms. There may be an…”
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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 by Zhang, Hanqian, Virtanen, Marie, Weström, Simone, Bygum, A., Wählby, Carolina, Vahlquist, Anders, Törmä, Hans

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Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome by Schlipf, N.A., Vahlquist, A., Teigen, N., Virtanen, M., Dragomir, A., Fismen, S., Barenboim, M., Manke, T., Rösler, B., Zimmer, A., Fischer, J.

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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 by Törmä, Hans, Lindberg, Mikael, Li, Hao, Virtanen, Marie, Liovic, M., Vahlquist, Anders

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Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2 by Bornholdt, Dorothea, Atkinson, T. Prescott, Bouadjar, Bakar, Catteau, Benoit, Cox, Helen, De Silva, Deepthi, Fischer, Judith, Gunasekera, Chalukya N., Hadj-Rabia, Smaïl, Happle, Rudolf, Holder-Espinasse, Muriel, Kaminski, Elke, König, Arne, Mégarbané, André, Mégarbané, Hala, Neidel, Ulrike, Oeffner, Frank, Oji, Vinzenz, Theos, Amy, Traupe, Heiko, Vahlquist, Anders, van Bon, Bregje W., Virtanen, Marie, Grzeschik, Karl-Heinz

“…ABSTRACT Missense mutations affecting membrane‐bound transcription factor protease site 2 (MBTPS2) have been associated with Ichthyosis Follicularis with…”
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Ultrastructure of desmosomes as a diagnostic clue in a case of congenital skin fragility syndrome by Vahlquist, Anders, Virtanen, Marie, Hellström-Pigg, Maritta, Dragomir, Anca, Ryberg, K., Wilson, N. J., Lu, L., McGrath, J. A., Smith, F. J. D.

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