Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Medizinische Fakultät » Universitätsklinikum Essen » Institut für Humangenetik"'
Autor:
Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzung-Chien Hsieh, Alexandra Afenjar, Stefanie Beck-Wödl, Ute Grasshoff, Tobias B Haack, Emilia K Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K Haanpää, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch-Hogrebe, Kevin Rostasy, Vanesa López-González, María José Sanchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Frank J Kaiser, Alma Kuechler
In 2016 and 2018, Chung, Jansen and others described a new syndrome caused by haploinsufficiency of PHIP (pleckstrin homology domain interacting protein, OMIM *612,870) and mainly characterized by developmental delay (DD), learning difficulties/intel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db7ee7fe136a88e679acbc9a014c3583
https://duepublico2.uni-due.de/servlets/MCRFileNodeServlet/duepublico_derivate_00078354/fcell_2023_10-1020609.pdf
https://duepublico2.uni-due.de/servlets/MCRFileNodeServlet/duepublico_derivate_00078354/fcell_2023_10-1020609.pdf
Autor:
Ilaria Parenti, Elsa Leitão, Alma Kuechler, Laurent Villard, Cyril Goizet, Cécile Courdier, Allan Bayat, Alessandra Rossi, Sophie Julia, Ange-Line Bruel, Frédéric Tran Mau-Them, Sophie Nambot, Daphné Lehalle, Marjolaine Willems, James Lespinasse, Jamal Ghoumid, Roseline Caumes, Thomas Smol, Salima El Chehadeh, Elise Schaefer, Marie-Thérèse Abi-Warde, Boris Keren, Alexandra Afenjar, Anne-Claude Tabet, Jonathan Levy, Anna Maruani, Ángel Aledo-Serrano, Waltraud Garming, Clara Milleret-Pignot, Anna Chassevent, Marije Koopmans, Nienke E. Verbeek, Richard Person, Rebecca Belles, Gary Bellus, Bonnie A. Salbert, Frank J. Kaiser, Laure Mazzola, Philippe Convers, Laurine Perrin, Amélie Piton, Gert Wiegand, Andrea Accogli, Francesco Brancati, Fabio Benfenati, Nicolas Chatron, David Lewis-Smith, Rhys H. Thomas, Federico Zara, Pasquale Striano, Gaetan Lesca, Christel Depienne
Publikováno v:
Frontiers in Cell and Developmental Biology
Frontiers in Cell and Developmental Biology, 2022, 10, ⟨10.3389/fcell.2022.1019715⟩
Frontiers in Cell and Developmental Biology, 2022, 10, ⟨10.3389/fcell.2022.1019715⟩
Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic SYN1 variants are associated with variable X-linked neurodevelopmental disorders mainly affecting males. In this study, we expand on the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c8e739ed5ab863c988c2cdbc609f37f
https://doi.org/10.3389/fcell.2022.1019715
https://doi.org/10.3389/fcell.2022.1019715
Autor:
Alicia Isabell Tüns, Till Hartmann, Simon Magin, Rocío Chamorro González, Anton George Henssen, Sven Rahmann, Alexander Schramm, Johannes Köster
Publikováno v:
Frontiers in Genetics. 13
OA Förderung 2022 Occurrence of extra-chromosomal circular DNA is a phenomenon frequently observed in tumor cells, and the presence of such DNA has been recognized as a marker of adverse outcome across cancer types. We here describe a computational
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb121d3a3a88741da423e8f2e7fb2b97
https://doi.org/10.3389/fgene.2022.867018
https://doi.org/10.3389/fgene.2022.867018
Autor:
Maike Anna Busch, André Haase, Natalia Miroschnikov, Annika Doege, Eva Biewald, Nikolaos E. Bechrakis, Manfred Beier, Deniz Kanber, Dietmar Lohmann, Klaus Metz, Nicole Dünker
Publikováno v:
Cancers, Vol 14, Iss 677, p 677 (2022)
Cancers; Volume 14; Issue 3; Pages: 677
Cancers; Volume 14; Issue 3; Pages: 677
Retinoblastoma (RB) is the most common childhood eye cancer. The expression of trefoil factor family peptide 1 (TFF1), a small secreted peptide, has been correlated with more advanced RB stages and it might be a promising new candidate as a RB biomar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::814518a04aa61b23ac8a3779424085fd
https://www.ncbi.nlm.nih.gov/pubmed/35158945
https://www.ncbi.nlm.nih.gov/pubmed/35158945
Autor:
Della Marina, Adela, Arlt, Annabelle, Weis, Joachim, Czech, Artur, Grüneboom, Anika, Roos, Andreas, Schara-Schmidt, Ulrike, Depienne, Christel, Gangfuß, Andrea, Kölbel, Heike, Sickmann, Albert, Freier, Erik, Kohlschmidt, Nicolai, Hentschel, Andreas
Publikováno v:
Cells, Vol 10, Iss 3481, p 3481 (2021)
Cells : open access journal 10(12), 3481 (2021). doi:10.3390/cells10123481 special issue: "Special Issue "Cellular and Molecular Mechanisms in Neuromuscular Diseases: From Basic Research to Clinical Approach" / Special Issue Editors: Dr. Anne Schänzer, Guest Editor; Dr. Tobias Ruck, Guest Editor; Prof. Dr. Andreas Hahn, Guest Editor; Dr. Corinna Preusse, Guest Editor"
Cells : open access journal 10(12), 3481 (2021). doi:10.3390/cells10123481 special issue: "Special Issue "Cellular and Molecular Mechanisms in Neuromuscular Diseases: From Basic Research to Clinical Approach" / Special Issue Editors: Dr. Anne Schänzer, Guest Editor; Dr. Tobias Ruck, Guest Editor; Prof. Dr. Andreas Hahn, Guest Editor; Dr. Corinna Preusse, Guest Editor"
Cells : open access journal 10(12), 3481 (2021). doi:10.3390/cells10123481 special issue: "Special Issue "Cellular and Molecular Mechanisms in Neuromuscular Diseases: From Basic Research to Clinical Approach" / Special Issue Editors: Dr. Anne Schänz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::193dc9d1ab8a2cda2eed8aa9c00d859d
https://duepublico2.uni-due.de/receive/duepublico_mods_00076367
https://duepublico2.uni-due.de/receive/duepublico_mods_00076367
Autor:
Parenti, Ilaria, Kaiser, Frank J.
Publikováno v:
Frontiers in Neuroscience
Chromatinopathies can be defined as a class of neurodevelopmental disorders caused by mutations affecting proteins responsible for chromatin remodeling and transcriptional regulation. The resulting dysregulation of gene expression favors the onset of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5bbe61ee07382bc07272c8b930ec93b4
https://duepublico2.uni-due.de/servlets/MCRFileNodeServlet/duepublico_derivate_00074746/fnins_2021_15-774950.pdf
https://duepublico2.uni-due.de/servlets/MCRFileNodeServlet/duepublico_derivate_00074746/fnins_2021_15-774950.pdf
Autor:
Felix Mölder, Kim Philipp Jablonski, Brice Letcher, Michael B. Hall, Christopher H. Tomkins-Tinch, Vanessa Sochat, Jan Forster, Soohyun Lee, Sven O. Twardziok, Alexander Kanitz, Andreas Wilm, Manuel Holtgrewe, Sven Rahmann, Sven Nahnsen, Johannes Köster
Publikováno v:
F1000Research, Vol 10 (2021)
Data analysis often entails a multitude of heterogeneous steps, from the application of various command line tools to the usage of scripting languages like R or Python for the generation of plots and tables. It is widely recognized that data analyses
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::18907be0e2be7dd3d34b993c543578dd
https://duepublico2.uni-due.de/receive/duepublico_mods_00074678
https://duepublico2.uni-due.de/receive/duepublico_mods_00074678
Autor:
Hülsenbeck, Isabel, Frank, Mirjam, Biewald, Eva, Kanber, Deniz, Lohmann, Dietmar R., Ketteler, Petra
Publikováno v:
Cancers, Vol 13, Iss 1605, p 1605 (2021)
Cancers
Volume 13
Issue 7
Cancers
Volume 13
Issue 7
Simple Summary Heritable retinoblastoma is a genetic disease that predisposes to develop multiple retinoblastomas in childhood and other extraocular tumors later in life. It is caused by genetic variants in the RB1 gene. Here we present a new classif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a59494a58a9da5531883759469df3ba3
https://www.mdpi.com/2072-6694/13/7/1605
https://www.mdpi.com/2072-6694/13/7/1605
Autor:
Reschke, Madlen, Biewald, Eva, Bronstein, Leo, Brecht, Ines B., Dittner-Moormann, Sabine, Driever, Frank, Ebinger, Martin, Fleischhack, Gudrun, Grabow, Desiree, Geismar, Dirk, Göricke, Sophia, Guberina, Maja, Le Guin, Claudia H. D., Kiefer, Tobias, Kratz, Christian P., Metz, Klaus, Müller, Bert, Ryl, Tatsiana, Schlamann, Marc, Schlüter, Sabrina, Schönberger, Stefan, Schulte, Johannes H., Sirin, Selma, Süsskind, Daniela, Timmermann, Beate, Ting, Saskia, Wackernagel, Werner, Wieland, Regina, Zenker, Martin, Zeschnigk, Michael, Reinhardt, Dirk, Eggert, Angelika, Ritter-Sovinz, Petra, Lohmann, Dietmar R., Bornfeld, Norbert, Bechrakis, Nikolaos, Ketteler, Petra
Publikováno v:
Cancers
Volume 13
Issue 8
Cancers, Vol 13, Iss 1876, p 1876 (2021)
Volume 13
Issue 8
Cancers, Vol 13, Iss 1876, p 1876 (2021)
Simple Summary Eye tumors in children are very rare. In Europe, these eye tumors are nearly always diagnosed early and cure rates are high. However, eye tumors in childhood often occur as the first sign of a genetic tumor predisposition syndrome. Thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c78601df7112d1dc5c6a8d4dfc605926
https://pubmed.ncbi.nlm.nih.gov/33919815
https://pubmed.ncbi.nlm.nih.gov/33919815
Autor:
Hannah, Döpper, Marius, Horstmann, Julia, Menges, Morgane, Bozet, Deniz, Kanber, Laura, Steenpass
Publikováno v:
Stem Cell Research, Vol 45, Iss, Pp-(2020)
Retinoblastoma is a childhood tumor of the retina that is caused mostly by biallelic inactivation of the tumor suppressor gene RB1. To generate a research resource, we abrogated expression of RB1 in H9 hESCs by CRISPR/Cas9 induced deletion of the RB1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::22523589c515e2a3dfc6b4008c90877f
http://www.sciencedirect.com/science/article/pii/S1873506120300830
http://www.sciencedirect.com/science/article/pii/S1873506120300830