Cutaneous cancer stem cell maintenance is dependent on beta-catenin signalling. (2008)
Malanchi, Ilaria, Peinado, Hector, Kassen, Deepika, Hussenet, Thomas, Metzger, Daniel, Chambon, Pierre, ...
Continuous turnover of epithelia is ensured by the extensive self-renewal capacity of tissue-specific stem cells. Similarly, epithelial tumour maintenance relies on cancer stem cells (CSCs), which...
Lefort, Karine, Mandinova, Anna, Ostano, Paola, Kolev, Vihren, Calpini, Valerie, Kolfschoten, Ingrid, ...
Little is known about the regulation and function of the Notch1 gene in negative control of human tumors. Here we show that Notch1 gene expression and activity are substantially down-modulated in...
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis (2006)
Müller, Felix B., Huber, Marcel, Kinaciyan, Tamar, Hausser, Ingrid, Schaffrath, Christina, Krieg, Thomas, ...
Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an...
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis (2006)
Müller, Felix B., Huber, Marcel, Kinaciyan, Tamar, Hausser, Ingrid, Schaffrath, Christina, Krieg, Thomas, ...
Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal dominant trait. The disease is caused by genetic defects of the epidermal keratins K1 or K10, leading to an...
Yang, Tao, Liang, Dongcai, Koch, Peter J., Hohl, Daniel, Kheradmand, Farrah, Overbeek, Paul A.
Netherton syndrome (NS) is a human autosomal recessive skin disease caused by mutations in the SPINK5 gene, which encodes the putative proteinase inhibitor LEKTI. We have generated a transgenic mouse...
Bitoun, Emmanuelle, Micheloni, Alessia, Lamant, Laurence, Bonnart, Chrystelle, Tartaglia-Polcini, Alessandro, Cobbold, Christian, ...
SPINK5, encoding the putative multi-domain serine protease inhibitor LEKTI, was recently identified as the defective gene in the severe autosomal recessive ichthyosiform skin condition, Netherton...
Bitoun, Emmanuelle, Micheloni, Alessia, Lamant, Laurence, Bonnart, Chrystelle, Tartaglia-Polcini, Alessandro, Cobbold, Christian, ...
SPINK5, encoding the putative multi-domain serine protease inhibitor LEKTI, was recently identified as the defective gene in the severe autosomal recessive ichthyosiform skin condition, Netherton...
Chimienti, Fabrice, Hogg, Ronald C., Plantard, Laure, Lehmann, Caroline, Brakch, Noureddine, Fischer, Judith, ...
Mal de Meleda is an autosomal recessive inflammatory and keratotic palmoplantar skin disorder due to mutations in the ARS B gene, encoding for SLURP-1 (secreted mammalian Ly-6/uPAR-related protein...
Plantard, Laure, Huber, Marcel, Macari, Francoise, Meda, Paolo, Hohl, Daniel
Connexins are homologous four-transmembrane-domain proteins and major components of gap junctions. We recently identified mutations in either GJB3 or GJB4 genes, encoding respectively connexin 31...
Bitoun, Emmanuelle, Micheloni, Alessia, Lamant, Laurence, Bonnart, Chrystelle, Tartaglia-Polcini, Alessandro, Cobbold, Christian, ...
SPINK5, encoding the putative multi-domain serine protease inhibitor LEKTI, was recently identified as the defective gene in the severe autosomal recessive ichthyosiform skin condition, Netherton...
Plantard, Laure, Huber, Marcel, Macari, Francoise, Meda, Paolo, Hohl, Daniel
Connexins are homologous four-transmembrane-domain proteins and major components of gap junctions. We recently identified mutations in either GJB3 or GJB4 genes, encoding respectively connexin 31...
Chimienti, Fabrice, Hogg, Ronald C., Plantard, Laure, Lehmann, Caroline, Brakch, Noureddine, Fischer, Judith, ...
Mal de Meleda is an autosomal recessive inflammatory and keratotic palmoplantar skin disorder due to mutations in the ARS B gene, encoding for SLURP-1 (secreted mammalian Ly-6/uPAR-related...
Bitoun, Emmanuelle, Micheloni, Alessia, Lamant, Laurence, Bonnart, Chrystelle, Tartaglia-Polcini, Alessandro, Cobbold, Christian, ...
SPINK5, encoding the putative multi-domain serine protease inhibitor LEKTI, was recently identified as the defective gene in the severe autosomal recessive ichthyosiform skin condition, Netherton...
Chimienti, Fabrice, Hogg, Ronald C., Plantard, Laure, Lehmann, Caroline, Brakch, Noureddine, Fischer, Judith, ...
Mal de Meleda is an autosomal recessive inflammatory and keratotic palmoplantar skin disorder due to mutations in the ARS B gene, encoding for SLURP-1 (secreted mammalian Ly-6/uPAR-related protein...
Plantard, Laure, Huber, Marcel, Macari, Francoise, Meda, Paolo, Hohl, Daniel
Connexins are homologous four-transmembrane-domain proteins and major components of gap junctions. We recently identified mutations in either GJB3 or GJB4 genes, encoding respectively connexin 31...
Mutations in the gene encoding SLURP-1 in Mal de Meleda (2001)
Fischer, Judith, Bouadjar, Bakar, Heilig, Roland, Huber, Marcel, Lefèvre, Caroline, Jobard, Florence, ...
Mal de Meleda (MDM) is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly and nail...
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis (1993)
Rothnagel, Joseph A., Fisher, Monte P., Axtell, Shelli M., Pittelkow, Mark R., Anton-Lamprecht, Ingrun, Huber, Marcel, ...
Epidermolytic hyperkeratosis (EHK), (bullous congenital ichthyosiform erythroderma), is an autosomal dominant human skin disorder. Recently, we and others have described mutations in keratins 1 and...
Yang, Tao, Liang, Dongcai, Koch, Peter J., Hohl, Daniel, Kheradmand, Farrah, Overbeek, Paul A.
Netherton syndrome (NS) is a human autosomal recessive skin disease caused by mutations in the SPINK5 gene, which encodes the putative proteinase inhibitor LEKTI. We have generated a transgenic mouse...
Mutation in the Gene for Connexin 30.3 in a Family with Erythrokeratodermia Variabilis
Macari, Francoise, Landau, Marina, Cousin, Pascal, Mevorah, Barukh, Brenner, Sarah, Panizzon, Renato, ...
Erythrokeratodermia variabilis (EKV) is an autosomal dominant keratinization disorder characterized by migratory erythematous lesions and fixed keratotic plaques. All families with EKV show mapping...
Auf Dem Keller, Ulrich, Huber, Marcel, Beyer, Tobias A., Kümin, Angelika, Siemes, Christina, Braun, Susanne, ...
The Nrf2 transcription factor is a key player in the cellular stress response through its regulation of cytoprotective genes. In this study we determined the role of Nrf2-mediated gene expression in...
Yang, Tao, Liang, Dongcai, Koch, Peter J., Hohl, Daniel, Kheradmand, Farrah, Overbeek, Paul A.
Netherton syndrome (NS) is a human autosomal recessive skin disease caused by mutations in the SPINK5 gene, which encodes the putative proteinase inhibitor LEKTI. We have generated a transgenic mouse...
Mutation in the Gene for Connexin 30.3 in a Family with Erythrokeratodermia Variabilis
Macari, Francoise, Landau, Marina, Cousin, Pascal, Mevorah, Barukh, Brenner, Sarah, Panizzon, Renato, ...
Erythrokeratodermia variabilis (EKV) is an autosomal dominant keratinization disorder characterized by migratory erythematous lesions and fixed keratotic plaques. All families with EKV show mapping...
Auf Dem Keller, Ulrich, Huber, Marcel, Beyer, Tobias A., Kümin, Angelika, Siemes, Christina, Braun, Susanne, ...
The Nrf2 transcription factor is a key player in the cellular stress response through its regulation of cytoprotective genes. In this study we determined the role of Nrf2-mediated gene expression in...
Lefort, Karine, Mandinova, Anna, Ostano, Paola, Kolev, Vihren, Calpini, Valerie, Kolfschoten, Ingrid, ...
Little is known about the regulation and function of the Notch1 gene in negative control of human tumors. Here we show that Notch1 gene expression and activity are substantially down-modulated in...
Regamey, Alexandre, Hohl, Daniel, Liu, Jia Wei, Roger, Thierry, Kogerman, Priit, Toftgård, Rune, ...
Cylindromas are benign adnexal skin tumors caused by germline mutations in the CYLD gene. In most cases the second wild-type allele is lost in tumor tissue, suggesting that CYLD functions as tumor...
Koch, Peter J., De Viragh, Pierre A., Scharer, Elisabeth, Bundman, Donnie, Longley, Mary Ann, Bickenbach, Jackie, ...
The epidermal cornified cell envelope (CE) is a complex protein–lipid composite that replaces the plasma membrane of terminally differentiated keratinocytes. This lamellar structure is essential...
Loss of serum response factor in keratinocytes results in hyperproliferative skin disease in mice
Koegel, Heidi, Von Tobel, Lukas, Schäfer, Matthias, Alberti, Siegfried, Kremmer, Elisabeth, Mauch, Cornelia, ...
The transcription factor serum response factor (SRF) plays a crucial role in the development of several organs. However, its role in the skin has not been explored. Here, we show that keratinocytes...