Complex evolution of a Y-chromosomal double homeobox 4 (DUX4)-related gene family in hominoids.

by Julia Schmidt, Stefan Kirsch, Gudrun A Rappold, Werner Schempp
Published 2009-01-01

Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes

by Sandra Hoffmann, Sandra Hoffmann, Ralph Roeth, Ralph Roeth, Sabrina Diebold, Jasmin Gogel, David Hassel, Steffen Just, Gudrun A. Rappold, Gudrun A. Rappold
Published 2021-05-01

Generation of two hiPSC lines from a patient with autism spectrum disorder harboring a 120 kb deletion in SHANK2 and two control lines from each parent

by Flavia-Bianca Cristian, Alexandra Köppel, Johannes Janssen, Jochen S. Utikal, Gudrun A. Rappold, Simone Berkel
Published 2020-12-01

A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders

by Ana de Sena Cortabitarte, Simone Berkel, Flavia-Bianca Cristian, Christine Fischer, Gudrun A. Rappold
Published 2018-04-01

SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells

by Christine Unsicker, Flavia-Bianca Cristian, Manja von Hahn, Volker Eckstein, Gudrun A. Rappold, Simone Berkel
Published 2021-01-01

Murine transgenic embryonic stem cell lines for the investigation of sinoatrial node-related molecular pathways

by Stefanie Schmitteckert, Anne Griesbeck, Simon Sumer, Anna Jauch, Alexandra Rolletschek, Beate Niesler, Gudrun A. Rappold, Sandra Hoffmann
Published 2017-12-01

Sex Hormones Regulate SHANK Expression

by Simone Berkel, Ahmed Eltokhi, Ahmed Eltokhi, Henning Fröhlich, Diana Porras-Gonzalez, Rafiullah Rafiullah, Rolf Sprengel, Gudrun A. Rappold
Published 2018-09-01

Comparative expression analysis of Shox2-deficient embryonic stem cell-derived sinoatrial node-like cells

by Sandra Hoffmann, Stefanie Schmitteckert, Anne Griesbeck, Hannes Preiss, Simon Sumer, Alexandra Rolletschek, Martin Granzow, Volker Eckstein, Beate Niesler, Gudrun A. Rappold
Published 2017-05-01

Two Cases of Recessive Intellectual Disability Caused by <i>NDST1</i> and <i>METTL23</i> Variants

by Amjad Khan, Zhichao Miao, Muhammad Umair, Amir Ullah, Mohammad A. Alshabeeb, Muhammad Bilal, Farooq Ahmad, Gudrun A. Rappold, Muhammad Ansar, Raphael Carapito
Published 2020-08-01

Foxp1 regulates cortical radial migration and neuronal morphogenesis in developing cerebral cortex.

by Xue Li, Jian Xiao, Henning Fröhlich, Xiaomeng Tu, Lianlian Li, Yue Xu, Huateng Cao, Jia Qu, Gudrun A Rappold, Jie-Guang Chen
Published 2015-01-01

Identification of novel SHOX target genes in the developing limb using a transgenic mouse model.

by Katja U Beiser, Anne Glaser, Kerstin Kleinschmidt, Isabell Scholl, Ralph Röth, Li Li, Norbert Gretz, Gunhild Mechtersheimer, Marcel Karperien, Antonio Marchini, Wiltrud Richter, Gudrun A Rappold
Published 2014-01-01

Functional Characterization of Rare Variants in the SHOX2 Gene Identified in Sinus Node Dysfunction and Atrial Fibrillation

by Sandra Hoffmann, Sandra Hoffmann, Christoph Paone, Simon A. Sumer, Simon A. Sumer, Sabrina Diebold, Birgit Weiss, Ralph Roeth, Sebastian Clauss, Sebastian Clauss, Ina Klier, Ina Klier, Stefan Kääb, Stefan Kääb, Andreas Schulz, Philipp S. Wild, Adil Ghrib, Adil Ghrib, Tanja Zeller, Tanja Zeller, Renate B. Schnabel, Renate B. Schnabel, Steffen Just, Gudrun A. Rappold, Gudrun A. Rappold
Published 2019-07-01

Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes

by Birgit Weiss, Birgit Eberle, Ralph Roeth, Christiaan de Bruin, Julian C. Lui, Nagarajan Paramasivam, Katrin Hinderhofer, Hermine A. van Duyvenvoorde, Jeffrey Baron, Jan M. Wit, Gudrun A. Rappold
Published 2021-06-01

Parkinson mice show functional and molecular changes in the gut long before motoric disease onset

by Manuela Gries, Anne Christmann, Steven Schulte, Maximilian Weyland, Stephanie Rommel, Monika Martin, Marko Baller, Ralph Röth, Stefanie Schmitteckert, Marcus Unger, Yang Liu, Frederik Sommer, Timo Mühlhaus, Michael Schroda, Jean-Pierre Timmermans, Isabel Pintelon, Gudrun A. Rappold, Markus Britschgi, Hilal Lashuel, Michael D. Menger, Matthias W. Laschke, Beate Niesler, Karl-Herbert Schäfer
Published 2021-06-01

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.

by Tanja Mederer, Stefanie Schmitteckert, Julia Volz, Cristina Martínez, Ralph Röth, Thomas Thumberger, Volker Eckstein, Jutta Scheuerer, Cornelia Thöni, Felix Lasitschka, Leonie Carstensen, Patrick Günther, Stefan Holland-Cunz, Robert Hofstra, Erwin Brosens, Jill A Rosenfeld, Christian P Schaaf, Duco Schriemer, Isabella Ceccherini, Marta Rusmini, Joseph Tilghman, Berta Luzón-Toro, Ana Torroglosa, Salud Borrego, Clara Sze-Man Tang, Mercè Garcia-Barceló, Paul Tam, Nagarajan Paramasivam, Melanie Bewerunge-Hudler, Carolina De La Torre, Norbert Gretz, Gudrun A Rappold, Philipp Romero, Beate Niesler
Published 2020-11-01

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

by Claire S Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kevin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Rastam, I Carina Gillberg, Gudrun A Rappold, Richard Holt, Anthony P Monaco, Elena Maestrini, Pilar Galan, Delphine Heron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiesa, François Rivier, Dominique Bonneau, Beatrice Regnault, Diana Zelenika, Marc Delepine, Mark Lathrop, Damien Sanlaville, Caroline Schluth-Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J Schmeisser, Tobias M Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W Scherer, Guy A Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron
Published 2014-09-01