Fetal mesenchymal stromal cells differentiating towards chondrocytes acquire a gene expression profile resembling human growth plate cartilage.

Autor: Sandy A van Gool, Joyce A M Emons, Jeroen C H Leijten, Eva Decker, Carsten Sticht, Johannes C van Houwelingen, Jelle J Goeman, Carin Kleijburg, Sicco A Scherjon, Norbert Gretz, Jan Maarten Wit, Gudrun Rappold, Janine N Post, Marcel Karperien

Publikováno v: PLoS ONE, Vol 7, Iss 11, p e44561 (2012)

We used human fetal bone marrow-derived mesenchymal stromal cells (hfMSCs) differentiating towards chondrocytes as an alternative model for the human growth plate (GP). Our aims were to study gene expression patterns associated with chondrogenic diff

Externí odkaz: https://doaj.org/article/0d7f3ea473844d028838b15a55294cfd

Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression.

Autor: Claudia Durand, Ralph Roeth, Harsh Dweep, Irena Vlatkovic, Eva Decker, Katja Ute Schneider, Gudrun Rappold

Publikováno v: PLoS ONE, Vol 6, Iss 3, p e18115 (2011)

The human SHOX gene is composed of seven exons and encodes a paired-related homeodomain transcription factor. SHOX mutations or deletions have been associated with different short stature syndromes implying a role in growth and bone formation. During

Externí odkaz: https://doaj.org/article/f4e525271e0d4747a805b2bac4834e28

Serotonin type 3 receptor subunit gene polymorphisms associated with psychosomatic symptoms in irritable bowel syndrome: A multicenter retrospective study

Autor: Sabrina Berens, Yuanjun Dong, Nikola Fritz, Jutta Walstab, Mauro D'Amato, Tenghao Zheng, Verena Wahl, Felix Boekstegers, Justo Lorenzo Bermejo, Cristina Martinez, Stefanie Schmitteckert, Egbert Clevers, Felicitas Engel, Annika Gauss, Wolfgang Herzog, Robin Spiller, Miriam Goebel-Stengel, Hubert Mönnikes, Viola Andresen, Frieling Thomas, Jutta Keller, Christian Pehl, Christoph Stein-Thöringer, Gerard Clarke, Timothy G Dinan, Eamonn M Quigley, Gregory Sayuk, Magnus Simrén, Jonas Tesarz, Gudrun Rappold, Lukas van Oudenhove, Rainer Schaefert, Beate Niesler

Publikováno v: World Journal of Gastroenterology. 28:2334-2349

BACKGROUND: Single-nucleotide polymorphisms (SNPs) of the serotonin type 3 receptor subunit (HTR3) genes have been associated with psychosomatic symptoms, but it is not clear whether these associations exist in irritable bowel syndrome (IBS). AIM: To

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e5368b2a34b376471e10e5ac991275f
https://doi.org/10.3748/wjg.v28.i21.2334

Distinct Phenotypes of

Autor: Ahmed, Eltokhi, Gudrun, Rappold, Rolf, Sprengel

Publikováno v: Frontiers in Molecular Neuroscience

The SHANK scaffolding proteins are important organizers for signaling proteins in the postsynapse of excitatory neurons. The functional significance of SHANK proteins becomes apparent by the wide spectrum of neurodevelopmental and neuropsychiatric di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fe7bd3935e57cda38254002c8c473223
https://pubmed.ncbi.nlm.nih.gov/30072871

Lesch-Nyhan Variant

Autor: Alexander K. C. Leung, William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, Katerina Tanya B. Perez-Gosiengfiao, Reyna M. Duron, Jesus Machado-Salas, Iris E. Martinez-Juarez, Ma. Rosa Avila, Angela Vincent, John Newsom-Davis, Vinzenz Oji, Jochen Utikal, Alexei Gratchev, Sergij Goerdt, Zvi Laron, Walter Lisch, Andreas Janecke, Berthold Seitz, Birgit Lorenz, Markus N. Preising, Nosratola D. Vaziri, John F. MacGregor, Roger A. Freedman, Thomas Klopstock, Arndt Hartmann, Wolfgang Dietmaier, Markus Böhm, Thomas A. Luger, Gudrun Rappold, Andrea Kelly, Changhong Li, Françoise Vuillier, Amos Etzioni, Cord Sunderkötter, Nandhagopal Ramachandiran, Sandra Sirrs, Jan Ehrchen, Stefan Beissert, Fenella Wojnarowska, Gudula Kirtschig, Laurent Schild, Bernard C. Rossier, Hubert Scharnagl, Winfried März, James M. Gilchrist, Rabah Ben Yaou, Gisèle Bonne, Benedikt G. H. Schoser, Flavia Paula, Mariz Vainzof, Maria Rita Passos-Bueno, Mayana Zatz, Tracey Weiler, Patrick Frosk, Kiaus Wrogemann, Cheryl R. Greenberg, Eloisa De Sá Moreira, Klaus Wrogemann, Adel Driss, Silke Hofmann, Leena Bruckner‐Tuderman, Takahiro Hamada, John A. McGrath, August H. M. Smelt, Renzo Guerrini, Carla Marini, Elena Parrini, Olav A. Gressner, Sören Siegmund, Stephan Haas, Manfred V. Singer, Matthias Wettstein, Dieter Häussinger, Massimo Pinzani, Wataru Shimizu, Charles Antzelevitch, Gérard Gacon, Olivier Dorseuil, Rémi Salomon, Joël Lunardi, Rade Tomic, Jesse Roman, Michelle A. Carey, Darryl C. Zeldin, Hideto Kameda, Jonathan Corren, Johannes C. Nossent, Alexander Olivares-Reyes, Tobias A. Rupprecht, Hans-Walter Pfister, Volker Fingerle, Rui-Cheng Ji, Chitra Suri, Marlys H. Witte, Lubomir Sokol, Jürgen Schölmerich, Martina Deckert, Reiner Siebert, Manuel Montesinos-Rongen, Cornelius Courts, Heinrich Schwindt, Anna Brunn, Werner Kempf, Reinhard Dummer, Günter Burg, Sylvain Latour, Karsten Schulmann, Christian Pox, Wolff Schmiegel, Laura M. Tanner

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ccede5b76e1a564087786df1417fd057
https://doi.org/10.1007/978-3-540-29676-8_8925