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

по Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Horn, Denise, Haucke, Volker, Hennies, Hans Christian
Опубликовано 2011

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

по Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Lommatzsch, Stefanie, Hennies, Hans Christian, Bachmann, Sebastian, Horn, Denise, Haucke, Volker
Опубликовано в: J Biol Chem (2015)

Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients

по Sathishkumar, Dharshini, Peter, Dincy, Pulimood, Susanne, Wiegmann, Henning, Valentin, Frederic, Thomas, Meera, Hennies, Hans Christian, Oji, Vinzenz
Опубликовано в: Case Rep Dermatol Med (2018)

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

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

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

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

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

по 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. 
Опубликовано 2006

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

по 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.
Опубликовано в: Am J Pathol (2015)

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

по 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
Опубликовано 2001

Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V

по Eckl, Katja M., Gruber, Robert, Brennan, Louise, Marriott, Andrew, Plank, Roswitha, Moosbrugger-Martinz, Verena, Blunder, Stefan, Schossig, Anna, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Zschocke, Johannes, Hennies, Hans Christian, Schmuth, Matthias
Опубликовано в: Front Genet (2021)

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

по 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
Опубликовано 2006

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

по 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
Опубликовано 2010

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

по 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
Опубликовано 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...

по 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
Опубликовано в: PLoS One (2016)

A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis

по 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
Опубликовано в: Am J Hum Genet (2017)

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

по 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
Опубликовано 2009

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

по 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.
Опубликовано 2011

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

по 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.
Опубликовано 2013

Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome

по 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
Опубликовано 2004

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

по 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.
Опубликовано 2008

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

по Lima Cunha, Dulce, Alakloby, Omar Mohammed, Gruber, Robert, Kakar, Naseebullah, Ahmad, Jamil, Alawbathani, Salem, Plank, Roswitha, Eckl, Katja, Krabichler, Birgit, Altmüller, Janine, Nürnberg, Peter, Zschocke, Johannes, Borck, Guntram, Schmuth, Matthias, Alabdulkareem, Adnan S., Abdulaziz Alnutaifi, Kholood, Hennies, Hans Christian
Опубликовано в: Mol Genet Genomic Med (2019)