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Treatment of keratinocytes with 4-phenylbutyrate in epidermolysis bullosa: Lessons for therapies in keratin disorders

Spörrer, Marina ; Prochnicki, Ania ; C.Tölle, Regine ; Nyström, Alexander ; Esser, Philipp R. ; Homberg, Melanie ; Athanasiou, Ioannis ; Zingkou, Eleni ; Schillinga, Achim ; Gerum, Richard ; Thievessen, Ingo ; Winter, Lilli ; Bruckner-Tuderman, Leena ; Fabry, Ben ; Magin, Thomas M. ; Dengjel, Jörn ; Schröder, Rolf ; Kiritsi, Dimitra

In: EBioMedicine, 2019, vol. 44, p. 502–515

Missense mutations in keratin 5 and 14 genes cause the severe skin fragility disorder epidermolysis bullosa simplex (EBS) by collapsing of the keratin cytoskeleton into cytoplasmic protein aggregates. Despite intense efforts, no molecular therapies are available, mostly due to the complex phenotype of EBS, comprising cell fragility, diminished adhesion, skin inflammation and itch.Methods: We...

Constitutional absence of epithelial integrin α3 impacts the composition of the cellular microenvironment of ILNEB keratinocytes

He, Yinghong ; Thriene, Kerstin ; Boerries, Melanie ; Hausser, Ingrid ; Franzke, Claus-Werner ; Busch, Hauke ; Dengjel, Jörn ; Has, Cristina

In: Matrix Biology, 2018, vol. 74, p. 62-76

Integrin α3β1, a major epidermal adhesion receptor is critical for organization of the basement membrane during development and wound healing. Integrin α3 deficiency leads to interstitial lung disease, nephrotic syndrome and epidermolysis bullosa (ILNEB), an autosomal recessive multiorgan disease characterized by basement membrane abnormalities in skin, lung and kidney. The pathogenetic...

Human amniotic fluid derived cells can competently substitute dermal fibroblasts in a tissue-engineered dermo-epidermal skin analog

Hartmann-Fritsch, Fabienne ; Hosper, Nynke ; Luginbühl, Joachim ; Biedermann, Thomas ; Reichmann, Ernst ; Meuli, Martin

In: Pediatric Surgery International, 2013, vol. 29, no. 1, p. 61-69

Impact of CYP2B6 983T>C polymorphism on non-nucleoside reverse transcriptase inhibitor plasma concentrations in HIV-infected patients

Wyen, Christoph ; Hendra, Heidy ; Vogel, Martin ; Hoffmann, Christian ; Knechten, Heribert ; Brockmeyer, Norbert H. ; Bogner, Johannes R. ; Rockstroh, Jürgen ; Esser, Stefan ; Jaeger, Hans ; Harrer, Thomas ; Mauss, Stefan ; van Lunzen, Jan ; Skoetz, Nicole ; Jetter, Alexander ; Groneuer, Christiane ; Fätkenheuer, Gerd ; Khoo, Saye H. ; Egan, Deirdre ; Back, David J. ; Owen, Andrew

In: Journal of Antimicrobial Chemotherapy, 2008, vol. 61, no. 4, p. 914-918

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis

Müller, Felix B. ; Huber, Marcel ; Kinaciyan, Tamar ; Hausser, Ingrid ; Schaffrath, Christina ; Krieg, Thomas ; Hohl, Daniel ; Korge, Bernhard P. ; Arin, Meral J.

In: Human Molecular Genetics, 2006, vol. 15, no. 7, p. 1133-1141

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P

Walter, M. C. ; Reilich, P. ; Huebner, A. ; Fischer, D. ; Schröder, R. ; Vorgerd, M. ; Kress, W. ; Born, C. ; Schoser, B. G. ; Krause, K. H. ; Klutzny, U. ; Bulst, S. ; Frey, J. R. ; Lochmüller, H.

In: Brain, 2007, vol. 130, no. 6, p. 1485-1496

Modulation of Disease Severity of Dystrophic Epidermolysis Bullosa By a Splice Site Mutation in Combination with a Missense Mutation in the COL7A1 Gene

Winberg, Jan-Olof ; Hammami-Hauasli, Nadja ; Nilssen, Øivind ; Anton-Lamprecht, Ingrun ; Naylor, Susan L. ; Kerbacher, Karen ; Zimmermann, Mirjam ; Krajci, Peter ; Gedde-Dahl, Tobias ; Bruckner-Tuderman, Leena

In: Human Molecular Genetics, 1997, vol. 6, no. 7, p. 1125-1135

Mutations in the gene encoding SLURP-1 in Mal de Meleda

Fischer, Judith ; Bouadjar, Bakar ; Heilig, Roland ; Huber, Marcel ; Lefèvre, Caroline ; Jobard, Florence ; Macari, Françoise ; Bakija-Konsuo, Ana ; Ait-Belkacem, Farid ; Weissenbach, Jean ; Lathrop, Mark ; Hohl, Daniel ; Prud'homme, Jean-François

In: Human Molecular Genetics, 2001, vol. 10, no. 8, p. 875-880

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

Azzedine, Hamid ; Zavadakova, Petra ; Planté-Bordeneuve, Violaine ; Vaz Pato, Maria ; Pinto, Nuno ; Bartesaghi, Luca ; Zenker, Jennifer ; Poirot, Olivier ; Bernard-Marissal, Nathalie ; Arnaud Gouttenoire, Estelle ; Cartoni, Romain ; Title, Alexandra ; Venturini, Giulia ; Médard, Jean-Jacques ; Makowski, Edward ; Schöls, Ludger ; Claeys, Kristl G. ; Stendel, Claudia ; Roos, Andreas ; Weis, Joachim ; Dubourg, Odile ; Leal Loureiro, José ; Stevanin, Giovanni ; Said, Gérard ; Amato, Anthony ; Baraban, Jay ; LeGuern, Eric ; Senderek, Jan ; Rivolta, Carlo ; Chrast, Roman

In: Human Molecular Genetics, 2013, vol. 22, no. 20, p. 4224-4232

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

Khan, Muzammil A. ; Rupp, Verena M. ; Orpinell, Meritxell ; Hussain, Muhammad S. ; Altmüller, Janine ; Steinmetz, Michel O. ; Enzinger, Christian ; Thiele, Holger ; Höhne, Wolfgang ; Nürnberg, Gudrun ; Baig, Shahid M. ; Ansar, Muhammad ; Nürnberg, Peter ; Vincent, John B. ; Speicher, Michael R. ; Gönczy, Pierre ; Windpassinger, Christian

In: Human Molecular Genetics, 2014, vol. 23, no. 22, p. 5940-5949