On the traces of tcf12: Investigation of the gene expression pattern during development and cranial suture patterning in zebrafish (Danio rerio).

by Rabea Blümel, Miriam Zink, Eva Klopocki, Daniel Liedtke
Published 2019-01-01

Generation of a CRISPR/Cas9-edited Plakoglobin (JUP) knock-out (JMUi001-A-4) iPSC line to model the cardiac phenotype of arrhythmogenic cardiomyopathy

by Katharina Walz, Anna Janz, Eva Klopocki, Brenda Gerull
Published 2023-12-01

Generation of two induced pluripotent stem cell lines UKWNLi006 and UKWNLi007 derived from two patients with an active site GLA mutation leading to a pain and no pain phenotype in...

by Katharina Klug, Maximilian Breyer, Eva Klopocki, Nurcan Üçeyler
Published 2023-03-01

Generation of induced pluripotent stem cell line (UKWNLi008) derived from a patient carrying a c.1678C>G variant in the transient receptor potential cation channel subfamily A memb...

by Nicole Michelle Schottmann, Katharina Klug, Eva Klopocki, Nurcan Üçeyler
Published 2023-06-01

Tissue-Nonspecific Alkaline Phosphatase—A Gatekeeper of Physiological Conditions in Health and a Modulator of Biological Environments in Disease

by Daniel Liedtke, Christine Hofmann, Franz Jakob, Eva Klopocki, Stephanie Graser
Published 2020-12-01

Generation of the induced pluripotent stem cell line UKWNLi005-A derived from a patient with the GLA mutation c.376A > G of unknown pathogenicity in Fabry disease

by Maximilian Breyer, Thomas Klein, Katharina Klug, Eva Klopocki, Nurcan Üçeyler
Published 2022-05-01

Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerv...

by Thomas Klein, Lisa Henkel, Katharina Klug, Chee Keong Kwok, Eva Klopocki, Nurcan Üçeyler
Published 2018-12-01

Detailed analysis of TNAP expression in zebrafish paves the way for establishment of a novel in vivo model reflecting the rare disease hypophosphatasia

by Angela Borst, Barbara Ohlebusch, Rabea Blümel, Eva Klopocki, Franz Jakob, Daniel Liedtke, Stephanie Graser
Published 2020-10-01

Generation of multiple human iPSC lines from peripheral blood mononuclear cells of two SLC2A3 deletion and two SLC2A3 duplication carriers

by Georg C. Ziegler, Franziska Radtke, Maria Rosaria Vitale, André Preuße, Eva Klopocki, Stefan Herms, Klaus-Peter Lesch
Published 2021-10-01

Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neu...

by Thomas Klein, Katharina Klug, Lisa Henkel, Chee Keong Kwok, Frank Edenhofer, Eva Klopocki, Ingo Kurth, Nurcan Üçeyler
Published 2019-03-01

Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome

by Janine Fiedler, Gabriele Strauß, Martin Wannack, Silke Schwiebert, Kerstin Seidel, Katja Henning, Eva Klopocki, Markus Schmugge, Gerhard Gaedicke, Harald Schulze
Published 2012-01-01

The importance of TNAP/Tnap for dental development in human cell culture and in zebrafish

by Stephanie Graser, Sofia Paulus, Elisa Riekert, Franz Jakob, Eva Klopocki, Denitsa Docheva, Theresa Kreuzahler, Maximilian Rudert, Marietta Herrmann, Daniel Liedtke
Published 2021-04-01

New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis

by Konstantinos Kolokotronis, Natalie Pluta, Eva Klopocki, Erdmute Kunstmann, Daniel Messroghli, Christoph Maack, Shai Tejman-Yarden, Michael Arad, Simone Rost, Brenda Gerull
Published 2020-07-01

CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system for arrhythmogenic cardiomyopathy (ACM)

by Anna Janz, Miriam Zink, Alexandra Cirnu, Annika Hartleb, Christina Albrecht, Simone Rost, Eva Klopocki, Katharina Günther, Frank Edenhofer, Süleyman Ergün, Brenda Gerull
Published 2021-05-01

Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ata...

by Anna Janz, Ruping Chen, Martina Regensburger, Yuichiro Ueda, Simone Rost, Eva Klopocki, Katharina Günther, Frank Edenhofer, Henry J. Duff, Süleyman Ergün, Brenda Gerull
Published 2020-07-01

Generation of a ST3GAL3 null mutant induced pluripotent stem cell (iPSC) line (UKWMPi002-A-3) by CRISPR/Cas9 genome editing

by David Diouf, Maria Rosaria Vitale, Johanna Eva Maria Zöller, Ana-Magdalena Pineau, Eva Klopocki, Catharina Hamann, Georg Christoph Ziegler, Tim Vanmierlo, Daniel Van den Hove, Klaus-Peter Lesch
Published 2023-03-01

Generation of induced pluripotent stem cell (iPSC) lines carrying a heterozygous (UKWMPi002-A-1) and null mutant knockout (UKWMPi002-A-2) of Cadherin 13 associated with neurodevelo...

by Maria Rosaria Vitale, Johanna Eva Maria Zöller, Charline Jansch, Anna Janz, Frank Edenhofer, Eva Klopocki, Daniel van den Hove, Tim Vanmierlo, Olga Rivero, Nael Nadif Kasri, Georg Christoph Ziegler, Klaus-Peter Lesch
Published 2021-03-01

Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder

by Oliver Andres, Eva-Maria König, Karina Althaus, Tamam Bakchoul, Peter Bugert, Stefan Eber, Ralf Knöfler, Erdmute Kunstmann, Georgi Manukjan, Oliver Meyer, Gabriele Strauß, Werner Streif, Thomas Thiele, Verena Wiegering, Eva Klopocki, Harald Schulze
Published 2018-10-01

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebraf...

by Sandra C. Doelken, Sebastian Köhler, Christopher J. Mungall, Georgios V. Gkoutos, Barbara J. Ruef, Cynthia Smith, Damian Smedley, Sebastian Bauer, Eva Klopocki, Paul N. Schofield, Monte Westerfield, Peter N. Robinson, Suzanna E. Lewis
Published 2013-03-01

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

by Asuman Koparir, Caroline Lekszas, Kemal Keseroglu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M. Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke
Published 2024-03-01