Does the understanding of signalling pathways pave the way to therapies for keratinization disorders? von Hennies, Hans C

Volltext

Diverse Regulation of Claudin-1 and Claudin-4 in Atopic Dermatitis von Gruber, Robert, Börnchen, Christian, Rose, Katharina, Daubmann, Anne, Volksdorf, Thomas, Wladykowski, Ewa, Vidal-y-Sy, Sabine, Peters, Eva M, Danso, Mogbekeloluwa, Bouwstra, Joke A, Hennies, Hans C, Moll, Ingrid, Schmuth, Matthias, Brandner, Johanna M

Volltext

Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length von Eckl, Katja-Martina, Tidhar, Rotem, Thiele, Holger, Oji, Vinzenz, Hausser, Ingrid, Brodesser, Susanne, Preil, Marie-Luise, Önal-Akan, Aysel, Stock, Friedrich, Müller, Dietmar, Becker, Kerstin, Casper, Ramona, Nürnberg, Gudrun, Altmüller, Janine, Nürnberg, Peter, Traupe, Heiko, Futerman, Anthony H., Hennies, Hans C.

Volltext

Genome-Wide Association Scan of Dupuytren's Disease von Furniss, Dominic, DM, MA, Dolmans, Guido H.C.G., MD, Hennies, Hans C., PhD

Volltext

hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers von Lima Cunha, Dulce, Oram, Amanda, Gruber, Robert, Plank, Roswitha, Lingenhel, Arno, Gupta, Manoj K, Altmüller, Janine, Nürnberg, Peter, Schmuth, Matthias, Zschocke, Johannes, Šarić, Tomo, Eckl, Katja M, Hennies, Hans C

Volltext

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution von Otto, Edgar, Hoefele, Julia, Ruf, Rainer, Mueller, Adelheid M., Hiller, Karl S., Wolf, Matthias T.F., Schuermann, Maria J., Becker, Achim, Birkenhäger, Ralf, Sudbrak, Ralf, Hennies, Hans C., Nürnberg, Peter, Hildebrandt, Friedhelm

Volltext

Wnt Signaling and Dupuytren's Disease von Dolmans, Guido H, Werker, Paul M, Hennies, Hans C, Furniss, Dominic, Festen, Eleonora A, Franke, Andre, Franke, Lude, Becker, Kerstin, van der Vlies, Pieter, Wolffenbuttel, Bruce H, Tinschert, Sigrid, Toliat, Mohammad R, Nothnagel, Michael, Klopp, Norman, Wichmann, H.-Erich, Nürnberg, Peter, Giele, Henk, Ophoff, Roel A, Wijmenga, Cisca

Volltext

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation von Kalay, Ersan, Uzumcu, Abdullah, Krieger, Elmar, Çaylan, Refik, Uyguner, Oya, Ulubil-Emiroglu, Melike, Erdol, Hidayet, Kayserili, Hülya, Hafiz, Gunter, Başerer, Nermin, Heister, Angelien J.G.M., Hennies, Hans C., Nürnberg, Peter, Başaran, Seher, Brunner, Han G., Cremers, Cor W.R.J., Karaguzel, Ahmet, Wollnik, Bernd, Kremer, Hannie

Volltext

Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis von Ammann, Sandra, Lehmberg, Kai, zur Stadt, Udo, Klemann, Christian, Bode, Sebastian F. N., Speckmann, Carsten, Janka, Gritta, Wustrau, Katharina, Rakhmanov, Mirzokhid, Fuchs, Ilka, Hennies, Hans C., Ehl, Stephan

Volltext

Induced Pluripotent Mesenchymal Stromal Cell Clones Retain Donor-derived Differences in DNA Methylation Profiles von Shao, Kaifeng, Koch, Carmen, Gupta, Manoj K, Lin, Qiong, Lenz, Michael, Laufs, Stephanie, Denecke, Bernd, Schmidt, Manfred, Linke, Matthias, Hennies, Hans C, Hescheler, Jürgen, Zenke, Martin, Zechner, Ulrich, Šarić, Tomo, Wagner, Wolfgang

Volltext

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing von WOLF, Matthias T. F, MUCHA, Bettina E, HILDEBRANDT, Friedhelm, HENNIES, Hans C, ATTANASIO, Massimo, PANTHER, Franziska, ZALEWSKI, Isabella, KARLE, Stephanie M, OTTO, Edgar A, DELTAS, C. Constantinou, FUCHSHUBER, Arno

Volltext

Molecular Analysis of 250 Patients with Autosomal Recessive Congenital Ichthyosis: Evidence for Mutation Hotspots in ALOXE3 and Allelic Heterogeneity in ALOX12B von Eckl, Katja-Martina, de Juanes, Silvia, Kurtenbach, Janine, Nätebus, Marc, Lugassy, Jenny, Oji, Vinzenz, Traupe, Heiko, Preil, Marie-Luise, Martínez, Francisco, Smolle, Josef, Harel, Avikam, Krieg, Peter, Sprecher, Eli, Hennies, Hans C.

Volltext

A Novel Homozygous Missense Mutation in SLURP1 Causing Mal de Meleda With an Atypical Phenotype von Gruber, Robert, Hennies, Hans C, Romani, Nikolaus, Schmuth, Matthias

Volltext

Cystatin M/E knockdown by lentiviral delivery of shRNA impairs epidermal morphogenesis of human skin equivalents von Jansen, Patrick A. M., van den Bogaard, Ellen H., Kersten, Ferry F. J., Oostendorp, Corien, van Vlijmen-Willems, Ivonne M. J. J., Oji, Vinzenz, Traupe, Heiko, Hennies, Hans C., Schalkwijk, Joost, Zeeuwen, Patrick L. J. M.

Volltext

Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2–q34.2 by total genome search for linkage von Wolf, Matthias T. F., Zalewski, Isabella, Martin, Félix Claverie, Ruf, Rainer, Müller, Dominik, Hennies, Hans C., Schwarz, Stella, Panther, Franziska, Attanasio, Massimo, Acosta, Hilaria G., Imm, Anita, Lucke, Barbara, Utsch, Boris, Otto, Edgar, Nurnberg, Peter, Nieto, Victor Garcia, Hildebrandt, Friedhelm

Volltext

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma von HENNIES, H.-C, ZEHENDER, D, KUNZE, J, KÜSTER, W, REIS, A

Volltext

Dissecting the Development of Dupuytren Disease Through Human Genetics von Ng, Michael, Zeggini, Eleftheria, Hennies, Hans C., Werker, Paul M., Furniss, Dominic

Volltext

A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2 von RUF, Rainer G, WOLF, Matthias T. F, LENNERT, Thomas, FUCHSHUBER, Arno, NURNBERG, Peter, HILDEBRANDT, Friedhelm, HENNIES, Hans C, LUCKE, Barbara, ZINN, Christina, VARNHOLT, Verena, LICHTENBERGER, Anne, PASCH, Andreas, IMM, Anita, BRIESE, Sonia

Volltext

Telomeric refinement of the MCKD1 locuson chromosome 1q21 von Wolf, Matthias T.F., Van Vlem, Bruno, Hennies, Hans C., Zalewski, Isabella, Karle, Stephanie M., Puetz, Markus, Panther, Franziska, Otto, Edgar, Fuchshuber, Arno, Lameire, Norbert, Loeys, Bart, Hildebrandt, Friedhelm

Volltext

Telomeric refinement of the MCKD1 locuson chromosome 1q211 von Wolf, Matthias T F, BRUNO VAN VLEM, Hennies, Hans C, Zalewski, Isabella, Karle, Stephanie M, Puetz, Markus, Panther, Franziska, Otto, Edgar, Fuchshuber, Arno, LAMEIRE, NORBERT, Loeys, Bart, Hildebrandt, Friedhelm

Volltext