Universität zu Köln

Journal Article

Alnasif, Nesrin, Zoschke, Christian, Fleige, Emanuel, Brodwolf, Robert, Boreham, Alexander, Ruehl, Eckart, Eckl, Katja-Martina, Merk, Hans-Friedrich, Hennies, Hans Christian, Alexiev, Ulrike, Haag, Rainer, Kuechler, Sarah and Schaefer-Korting, Monika (2014). Penetration of normal, damaged and diseased skin - An in vitro study on dendritic core-multishell nanotransporters. J. Control. Release, 185. S. 45 - 51. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1873-4995

Ammann, Sandra ORCID: 0000-0003-0385-1890, Schulz, Ansgar, Kraegeloh-Mann, Ingeborg, Dieckmann, Nele M. G., Niethammer, Klaus, Fuchs, Sebastian ORCID: 0000-0001-9191-7970, Eckl, Katja Martina, Plank, Roswitha, Werner, Roland, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Bank, Julia, Strauss, Anne, von Bernuth, Horst, zur Stadt, Udo, Grieve, Samantha, Griffiths, Gillian M., Lehmberg, Kai, Hennies, Hans Christian and Ehl, Stephan (2016). Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). S. 997 - 1007. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

Becker, Kerstin, Siegert, Sabine, Toliat, Mohammad Reza, Du, Juanjiangmeng, Casper, Ramona, Dolmans, Guido H., Werker, Paul M., Tinschert, Sigrid, Franke, Andre ORCID: 0000-0003-1530-5811, Gieger, Christian ORCID: 0000-0001-6986-9554, Strauch, Konstantin, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Nuernberg, Peter and Hennies, Hans Christian (2016). Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease. PLoS One, 11 (7). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Blaydon, Diana C., Nitoiu, Daniela, Eckl, Katja-Martina, Cabral, Rita M., Bland, Philip, Hausser, Ingrid, van Heel, David A., Rajpopat, Shefali, Fischer, Judith ORCID: 0000-0002-8580-8118, Oji, Vinzenz ORCID: 0000-0003-1380-4828, Zvulunov, Alex, Traupe, Heiko, Hennies, Hans Christian and Kelsell, David P. (2011). Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion. Am. J. Hum. Genet., 89 (4). S. 564 - 572. CAMBRIDGE: CELL PRESS. ISSN 0002-9297

Cunha, Dulce Lima, Alakloby, Omar Mohammed, Gruber, Robert, Kakar, Naseebullah, Ahmad, Jamil, Alawbathani, Salem, Plank, Roswitha, Eckl, Katja, Krabichler, Birgit, Altmueller, Janine, Nuernberg, Peter, Zschocke, Johannes, Borck, Guntram, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Alabdulkareem, Adnan S., Alnutaifi, Kholood Abdulaziz and Hennies, Hans Christian (2019). Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. Mol. Genet. Genom. Med., 7 (3). HOBOKEN: WILEY. ISSN 2324-9269

Eckl, Katja M., Gruber, Robert, Brennan, Louise, Marriott, Andrew, Plank, Roswitha, Moosbrugger-Martinz, Verena, Blunder, Stefan, Schossig, Anna, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Zschocke, Johannes, Hennies, Hans Christian and Schmuth, Matthias (2021). Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V. Front. Genet., 12. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-8021

Eckl, Katja-Martina, Weindl, Guenther, Ackermann, Katharina, Kuechler, Sarah, Casper, Ramona, Radowski, Michal R., Haag, Rainer, Hennies, Hans Christian and Schaefer-Korting, Monika (2014). Increased cutaneous absorption reflects impaired barrier function of reconstructed skin models mimicking keratinisation disorders. Exp. Dermatol., 23 (4). S. 286 - 289. HOBOKEN: WILEY-BLACKWELL. ISSN 1600-0625

Hennies, Hans Christian (2015). All is balanced: inter-alpha-trypsin inhibitors as unseen extracellular matrix proteins in epidermal morphology and differentiation. Exp. Dermatol., 24 (9). S. 661 - 663. HOBOKEN: WILEY. ISSN 1600-0625

Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann ORCID: 0000-0003-3285-4281, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia ORCID: 0000-0002-9313-8257, Bamshad, Michael, Bjorck, Erik ORCID: 0000-0002-1210-2245, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus ORCID: 0000-0002-3858-8474, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne ORCID: 0000-0002-4013-6012, Romani, Nikolaus ORCID: 0000-0003-1614-9128, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Silver, Rachel, Taylan, Fulya ORCID: 0000-0002-2907-0235, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Byers, Peter H. and Zschocke, Johannes ORCID: 0000-0002-0046-8274 (2016). Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. Am. J. Hum. Genet., 99 (5). S. 1005 - 1015. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Kim, Mi-Ran, Oji, Vinzenz, Valentin, Frederic, Traupe, Heiko, Nofer, Jerzy-Roch, Hausser, Ingrid, Hennies, Hans Christian, Eckl, Katja, Wudy, Stefan A., Sanchez-Guijo, Alberto, Kerschke, Laura, Fischer, Judith and Suessmuth, Kira (2021). Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling. Acta Derm.-Venereol., 101. UPPSALA: ACTA DERMATO-VENEREOLOGICA. ISSN 1651-2057

Ng, Michael, Thakkar, Dipti, Southam, Lorraine, Werker, Paul, Ophoff, Roel, Becker, Kerstin, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Franke, Andre ORCID: 0000-0003-1530-5811, Nuernberg, Peter, Espirito-Santo, Ana Isabel, Izadi, David, Hennies, Hans Christian, Nanchahal, Jagdeep, Zeggini, Eleftheria and Furniss, Dominic (2017). A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. Am. J. Hum. Genet., 101 (3). S. 417 - 428. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Oji, Vinzenz, Preil, Marie-Luise, Kleinow, Barbara, Wehr, Geske, Fischer, Judith ORCID: 0000-0002-8580-8118, Hennies, Hans Christian, Hausser, Ingrid, Breitkreutz, Dirk, Aufenvenne, Karin, Stieler, Karola, Tantcheva-Poor, Illiana, Weidinger, Stefan, Emmert, Steffen, Hamm, Henning, Perusquia-Ortiz, Ana Maria, Zaraeva, Irina, Diem, Anja, Giehl, Kathrin, Foelster-Holst, Regina, Kiekbusch, Kirstin, Hoeger, Peter, Ott, Hagen and Traupe, Heiko (2017). S1 guidelines for the diagnosis and treatment of ichthyoses - update. J. Dtsch. Dermatol. Ges., 15 (10). S. 1053 - 1066. HOBOKEN: WILEY. ISSN 1610-0387

Oji, Vinzenz ORCID: 0000-0003-1380-4828, Tadini, Gianluca, Akiyama, Masashi, Bardon, Claudine Blanchet, Bodemer, Christine, Bourrat, Emmanuelle, Coudiere, Philippe, DiGiovanna, John J., Elias, Peter, Fischer, Judith ORCID: 0000-0002-8580-8118, Fleckman, Philip, Gina, Michal, Harper, John, Hashimoto, Takashi, Hausser, Ingrid, Hennies, Hans Christian, Hohl, Daniel, Hovnanian, Alain ORCID: 0000-0003-3412-7512, Ishida-Yamamoto, Akemi, Jacyk, Witold K., Leachman, Sancy, Leigh, Irene, Mazereeuw-Hautier, Juliette, Milstone, Leonard, Morice-Picard, Fanny, Paller, Amy S., Richard, Gabriele, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Shimizu, Hiroshi, Sprecher, Eli, Van Steensel, Maurice, Taieb, Alain, Toro, Jorge R., Vabres, Pierre ORCID: 0000-0001-8693-3183, Vahlquist, Anders, Williams, Mary and Traupe, Heiko (2010). Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009. J. Am. Acad. Dermatol., 63 (4). S. 607 - 642. NEW YORK: MOSBY-ELSEVIER. ISSN 0190-9622

Ozyurt, Kemal, Atasoy, Mustafa ORCID: 0000-0003-1904-9878, Ertas, Ragip, Ulas, Yilmaz, Akkus, Muhammed Resat, Kiraz, Ashhan and Hennies, Hans Christian (2019). Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C. Turk. J. Pediatr., 61 (4). S. 604 - 608. ANKARA: TURKISH J PEDIATRICS. ISSN 0041-4301

Schiller, Stina, Seebode, Christina, Hennies, Hans Christian, Giehl, Kathrin and Emmert, Steffen (2014). Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease. J. Dtsch. Dermatol. Ges., 12 (9). S. 781 - 789. HOBOKEN: WILEY. ISSN 1610-0387

Seifert, Wenke, Kuehnisch, Jirko, Maritzen, Tanja ORCID: 0000-0003-4993-0340, Horn, Denise, Haucke, Volker ORCID: 0000-0003-3119-6993 and Hennies, Hans Christian (2011). Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity. J. Biol. Chem., 286 (43). S. 37665 - 37676. BETHESDA: AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC. ISSN 1083-351X

Seifert, Wenke, Kuehnisch, Jirko, Maritzen, Tanja ORCID: 0000-0003-4993-0340, Lommatzsch, Stefanie, Hennies, Hans Christian, Bachmann, Sebastian, Horn, Denise and Haucke, Volker ORCID: 0000-0003-3119-6993 (2015). Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth. J. Biol. Chem., 290 (6). S. 3349 - 3359. BETHESDA: AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC. ISSN 1083-351X

Seifert, Wenke, Kuehnisch, Jirko, Maritzen, Tanja ORCID: 0000-0003-4993-0340, Lommatzsch, Stefanie, Hennies, Hans Christian, Bachmann, Sebastian, Horn, Denise and Haucke, Volker ORCID: 0000-0003-3119-6993 (2015). Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth. J. Biol. Chem., 290 (6). S. 3349 - 3359. BETHESDA: AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC. ISSN 1083-351X

Witting, Madeleine, Molina, Maria ORCID: 0000-0001-6139-6633, Obst, Katja, Plank, Roswitha, Eckl, Katja Martina, Hennies, Hans Christian, Calderon, Marcelo ORCID: 0000-0002-2734-9742, Friess, Wolfgang and Hedtrich, Sarah (2015). Thermosensitive dendritic polyglycerol-based nanogels for cutaneous delivery of biomacromolecules. Nanomed.-Nanotechnol. Biol. Med., 11 (5). S. 1179 - 1188. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1549-9642