Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity

Por Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Horn, Denise, Haucke, Volker, Hennies, Hans Christian
Publicado em 2011

Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth

Por Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Lommatzsch, Stefanie, Hennies, Hans Christian, Bachmann, Sebastian, Horn, Denise, Haucke, Volker
Publicado no J Biol Chem (2015)

Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic Heterogeneity

Por Krebsová, Alice, Küster, Wolfgang, Lestringant, Gilles G., Schulze, Bernt, Hinz, Britta, Frossard, Philippe M., Reis, André, Hennies, Hans Christian
Publicado em 2001

Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model and insights from proteomic studies

Por Aufenvenne, Karin, Rice, Robert H., Hausser, Ingrid, Oji, Vinzenz, Hennies, Hans Christian, Rio, Marcela Del, Traupe, Heiko, Larcher, Fernando
Publicado em 2012

Increased Activity of Coagulation Factor XII (Hageman Factor) Causes Hereditary Angioedema Type III

Por 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. 
Publicado em 2006

Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency

Por Gruber, Robert, Sugarman, Jeffrey L., Crumrine, Debra, Hupe, Melanie, Mauro, Theodora M., Mauldin, Elizabeth A., Thyssen, Jacob P., Brandner, Johanna M., Hennies, Hans-Christian, Schmuth, Matthias, Elias, Peter M.
Publicado no Am J Pathol (2015)

A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3

Por Leal, Alejandro, Morera, Bernal, Del Valle, Gerardo, Heuss, Dieter, Kayser, Corinna, Berghoff, Martin, Villegas, Ramón, Hernández, Erick, Méndez, María, Hennies, Hans Christian, Neundörfer, Bernhard, Barrantes, Ramiro, Reis, André, Rautenstrauss, Bernd
Publicado em 2001

Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14

Por 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
Publicado em 2006

Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

Por 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
Publicado em 2010

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

Por 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
Publicado em 2012

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 Ass...

Por 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
Publicado no PLoS One (2016)

Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11

Por 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
Publicado em 2009

Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion

Por 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.
Publicado em 2011

Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

Por 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.
Publicado em 2013

Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome

Por Hennies, Hans Christian, Rauch, Anita, Seifert, Wenke, Schumi, Christian, Moser, Elisabeth, Al-Taji, Eva, Tariverdian, Gholamali, Chrzanowska, Krystyna H., Krajewska-Walasek, Malgorzata, Rajab, Anna, Giugliani, Roberto, Neumann, Thomas E., Eckl, Katja M., Karbasiyan, Mohsen, Reis, André, Horn, Denise
Publicado em 2004

Genome-wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26

Por Hillmer, Axel M., Flaquer, Antonia, Hanneken, Sandra, Eigelshoven, Sibylle, Kortüm, Anne-Katrin, Brockschmidt, Felix F., Golla, Astrid, Metzen, Christine, Thiele, Holger, Kolberg, Susanne, Reinartz, Roman, Betz, Regina C., Ruzicka, Thomas, Hennies, Hans Christian, Kruse, Roland, Nöthen, Markus M.
Publicado em 2008

RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

Por Basel-Vanagaite, Lina, Sarig, Ofer, Hershkovitz, Dov, Fuchs-Telem, Dana, Rapaport, Debora, Gat, Andrea, Isman, Gila, Shirazi, Idit, Shohat, Mordechai, Enk, Claes D., Birk, Efrat, Kohlhase, Jürgen, Matysiak-Scholze, Uta, Maya, Idit, Knopf, Carlos, Peffekoven, Anette, Hennies, Hans-Christian, Bergman, Reuven, Horowitz, Mia, Ishida-Yamamoto, Akemi, Sprecher, Eli
Publicado em 2009

RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome

Por 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.
Publicado em 2012

Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia

Por Hillmer, Axel M. , Hanneken, Sandra , Ritzmann, Sibylle , Becker, Tim , Freudenberg, Jan , Brockschmidt, Felix F. , Flaquer, Antonia , Freudenberg-Hua, Yun , Jamra, Rami Abou , Metzen, Christine , Heyn, Uwe , Schweiger, Nadine , Betz, Regina C. , Blaumeiser, Bettina , Hampe, Jochen , Schreiber, Stefan , Schulze, Thomas G. , Hennies, Hans Christian , Schumacher, Johannes , Propping, Peter , Ruzicka, Thomas , Cichon, Sven , Wienker, Thomas F. , Kruse, Roland , Nöthen, Markus M. 
Publicado em 2005

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Por Hennies, Hans Christian, Kornak, Uwe, Zhang, Haikuo, Egerer, Johannes, Zhang, Xin, Seifert, Wenke, Kühnisch, Jirko, Budde, Birgit, Nätebus, Marc, Brancati, Francesco, Wilcox, William R., Müller, Dietmar, Kaplan, Paige B., Rajab, Anna, Zampino, Giuseppe, Fodale, Valentina, Dallapiccola, Bruno, Newman, William, Metcalfe, Kay, Clayton-Smith, Jill, Tassabehji, May, Steinmann, Beat, Barr, Francis A., Nürnberg, Peter, Wieacker, Peter, Mundlos, Stefan
Publicado em 2008