Increased Activity of Coagulation Factor XII (Hageman Factor) Causes Hereditary Angioedema Type III
Cichon, Sven, Martin, Ludovic, Hennies, Hans Christian, Müller, Felicitas, Van Driessche, Karen, Karpushova, Anna, Stevens, Wim, Colombo, Roberto, Renné, Thomas, Drouet, Christian, Bork, Konrad, Nöthen, Markus M.
Published in American journal of human genetics (01.12.2006)
Published in American journal of human genetics (01.12.2006)
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Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease
Oji, Vinzenz, Eckl, Katja-Martina, Aufenvenne, Karin, Nätebus, Marc, Tarinski, Tatjana, Ackermann, Katharina, Seller, Natalia, Metze, Dieter, Nürnberg, Gudrun, Fölster-Holst, Regina, Schäfer-Korting, Monika, Hausser, Ingrid, Traupe, Heiko, Hennies, Hans Christian
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
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A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function
Hussain, Muhammad Sajid, Baig, Shahid Mahmood, Neumann, Sascha, Nürnberg, Gudrun, Farooq, Muhammad, Ahmad, Ilyas, Alef, Thomas, Hennies, Hans Christian, Technau, Martin, Altmüller, Janine, Frommolt, Peter, Thiele, Holger, Noegel, Angelika Anna, Nürnberg, Peter
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
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Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion
Blaydon, Diana C., Nitoiu, Daniela, Eckl, Katja-Martina, Cabral, Rita M., Bland, Philip, Hausser, Ingrid, van Heel, David A., Rajpopat, Shefali, Fischer, Judith, Oji, Vinzenz, Zvulunov, Alex, Traupe, Heiko, Hennies, Hans Christian, Kelsell, David P.
Published in American journal of human genetics (07.10.2011)
Published in American journal of human genetics (07.10.2011)
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Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Pasternack, Sandra M., Refke, Melanie, Paknia, Elham, Hennies, Hans Christian, Franz, Thomas, Schäfer, Niklas, Fryer, Alan, van Steensel, Maurice, Sweeney, Elizabeth, Just, Miquel, Grimm, Clemens, Kruse, Roland, Ferrándiz, Carlos, Nöthen, Markus M., Fischer, Utz, Betz, Regina C.
Published in American journal of human genetics (10.01.2013)
Published in American journal of human genetics (10.01.2013)
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Journal Article
Hallmarks of Atopic Skin Mimicked In Vitro by Means of a Skin Disease Model Based on FLG Knock-down
Küchler, Sarah, Henkes, Dominika, Eckl, Katja-Martina, Ackermann, Katharina, Plendl, Johanna, Korting, Hans-Christian, Hennies, Hans-Christina, Schäfer-Korting, Monika
Published in Alternatives to laboratory animals (01.10.2011)
Published in Alternatives to laboratory animals (01.10.2011)
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Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14
Lugassy, Jennie, Itin, Peter, Ishida-Yamamoto, Akemi, Holland, Kristen, Huson, Susan, Geiger, Dan, Hennies, Hans Christian, Indelman, Margarita, Bercovich, Dani, Uitto, Jouni, Bergman, Reuven, McGrath, John A., Richard, Gabriele, Sprecher, Eli
Published in American journal of human genetics (01.10.2006)
Published in American journal of human genetics (01.10.2006)
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Self-Healing Collodion Baby: a Dynamic Phenotype Explained by a Particular Transglutaminase-1 Mutation
Raghunath, Michael, Hennies, Hans-Christian, Ahvazi, Bijan, Vogel, Melanie, Reis, Andre, Steinert, Peter M., Traupe, Heiko
Published in Journal of investigative dermatology (01.02.2003)
Published in Journal of investigative dermatology (01.02.2003)
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Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome
Utsch, Boris, Sayer, John A, Attanasio, Massimo, Pereira, Rob Rodrigues, Eccles, Michael, Hennies, Hans-Christian, Otto, Edgar A, Hildebrandt, Friedhelm
Published in Pediatric nephrology (Berlin, West) (01.01.2006)
Published in Pediatric nephrology (Berlin, West) (01.01.2006)
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Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity
Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Horn, Denise, Haucke, Volker, Hennies, Hans Christian
Published in The Journal of biological chemistry (28.10.2011)
Published in The Journal of biological chemistry (28.10.2011)
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A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis
Ng, Michael, Thakkar, Dipti, Southam, Lorraine, Werker, Paul, Ophoff, Roel, Becker, Kerstin, Nothnagel, Michael, Franke, Andre, Nürnberg, Peter, Espirito-Santo, Ana Isabel, Izadi, David, Hennies, Hans Christian, Nanchahal, Jagdeep, Zeggini, Eleftheria, Furniss, Dominic
Published in American journal of human genetics (07.09.2017)
Published in American journal of human genetics (07.09.2017)
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Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11
zur Stadt, Udo, Rohr, Jan, Seifert, Wenke, Koch, Florian, Grieve, Samantha, Pagel, Julia, Strauß, Julia, Kasper, Brigitte, Nürnberg, Gudrun, Becker, Christian, Maul-Pavicic, Andrea, Beutel, Karin, Janka, Gritta, Griffiths, Gillian, Ehl, Stephan, Hennies, Hans Christian
Published in American journal of human genetics (09.10.2009)
Published in American journal of human genetics (09.10.2009)
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Thermosensitive dendritic polyglycerol-based nanogels for cutaneous delivery of biomacromolecules
Witting, Madeleine, MSc, Molina, Maria, PhD, Obst, Katja, MSc, Plank, Roswitha, MSc, Eckl, Katja Martina, PhD, Hennies, Hans Christian, PhD, Calderón, Marcelo, PhD, Frieß, Wolfgang, PhD, Hedtrich, Sarah, PhD
Published in Nanomedicine (01.07.2015)
Published in Nanomedicine (01.07.2015)
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A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren’s disease
Riesmeijer, Sophie A., Kamali, Zoha, Ng, Michael, Drichel, Dmitriy, Piersma, Bram, Becker, Kerstin, Layton, Thomas B., Nanchahal, Jagdeep, Nothnagel, Michael, Vaez, Ahmad, Hennies, Hans Christian, Werker, Paul M. N., Furniss, Dominic, Nolte, Ilja M.
Published in Nature communications (03.01.2024)
Published in Nature communications (03.01.2024)
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Penetration of normal, damaged and diseased skin — An in vitro study on dendritic core–multishell nanotransporters
Alnasif, Nesrin, Zoschke, Christian, Fleige, Emanuel, Brodwolf, Robert, Boreham, Alexander, Rühl, Eckart, Eckl, Katja-Martina, Merk, Hans-Friedrich, Hennies, Hans Christian, Alexiev, Ulrike, Haag, Rainer, Küchler, Sarah, Schäfer-Korting, Monika
Published in Journal of controlled release (10.07.2014)
Published in Journal of controlled release (10.07.2014)
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Filaggrin gene variants among Saudi patients with ichthyosis vulgaris
Alakloby, Omar Mohammed, Almuqarrab, Fatimah, Zschocke, Johannes, Schmuth, Mathias, Abdulkareem, Adnan, Alnutaifi, Kholood, Borgio, Francis, Gruber, Robert, Hennies, Hans Christian
Published in BMC medical genomics (23.10.2023)
Published in BMC medical genomics (23.10.2023)
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RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome
Blaydon, Diana C., Etheridge, Sarah L., Risk, Janet M., Hennies, Hans-Christian, Gay, Laura J., Carroll, Rebecca, Plagnol, Vincent, McRonald, Fiona E., Stevens, Howard P., Spurr, Nigel K., Bishop, D. Timothy, Ellis, Anthony, Jankowski, Janusz, Field, John K., Leigh, Irene M., South, Andrew P., Kelsell, David P.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism ( FBP1, ACAD9) and vesicle trafficking (RAB27A)
Brauer, Nina, Maruta, Yuto, Lisci, Miriam, Strege, Katharina, Oschlies, Ilske, Nakamura, Hikari, Böhm, Svea, Lehmberg, Kai, Brandhoff, Leon, Ehl, Stephan, Parvaneh, Nima, Klapper, Wolfram, Fukuda, Mitsunori, Griffiths, Gillian M, Hennies, Hans Christian, Niehues, Tim, Ammann, Sandra
Published in Frontiers in immunology (14.06.2023)
Published in Frontiers in immunology (14.06.2023)
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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
Becker, Kerstin, Siegert, Sabine, Toliat, Mohammad Reza, Du, Juanjiangmeng, Casper, Ramona, Dolmans, Guido H, Werker, Paul M, Tinschert, Sigrid, Franke, Andre, Gieger, Christian, Strauch, Konstantin, Nothnagel, Michael, Nürnberg, Peter, Hennies, Hans Christian
Published in PloS one (28.07.2016)
Published in PloS one (28.07.2016)
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Long-Term Faithful Recapitulation of Transglutaminase 1–Deficient Lamellar Ichthyosis in a Skin-Humanized Mouse Model, and Insights from Proteomic Studies
Aufenvenne, Karin, Rice, Robert H., Hausser, Ingrid, Oji, Vinzenz, Hennies, Hans Christian, Rio, Marcela Del, Traupe, Heiko, Larcher, Fernando
Published in Journal of investigative dermatology (01.07.2012)
Published in Journal of investigative dermatology (01.07.2012)
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