Zobrazeno 1 - 10
of 311
pro vyhledávání: '"Anita Rauch"'
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Autor:
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Abstract SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated
Externí odkaz:
https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5
Autor:
Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié, Anita Rauch
Publikováno v:
Journal of Personalized Medicine, Vol 14, Iss 6, p 648 (2024)
Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows. This includes extensive variant prioritization, annotation, and time-consumin
Externí odkaz:
https://doaj.org/article/3722586b49164fedad407d6675067559
Autor:
Anna Grether, Ivan Ivanovski, Martina Russo, Anaïs Begemann, Katharina Steindl, Lucia Abela, Michael Papik, Markus Zweier, Beatrice Oneda, Pascal Joset, Anita Rauch
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 5, Pp n/a-n/a (2023)
Abstract Background As the technology of next generation sequencing rapidly develops and costs are constantly reduced, the clinical availability of whole genome sequencing (WGS) increases. Thereby, it remains unclear what exact advantage WGS offers i
Externí odkaz:
https://doaj.org/article/20cbd16de29d47a0bd33738cb7db2bc9
Autor:
Paranchai Boonsawat, Anselm H. C. Horn, Katharina Steindl, Alessandra Baumer, Pascal Joset, Dennis Kraemer, Angela Bahr, Ivan Ivanovski, Elena M. Cabello, Michael Papik, Markus Zweier, Beatrice Oneda, Pietro Sirleto, Tilo Burkhardt, Heinrich Sticht, Anita Rauch
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Abstract The magnitude of clinical utility of preconception expanded carrier screening (ECS) concerning its potential to reduce the risk of affected offspring is unknown. Since neurodevelopmental disorders (NDDs) in their offspring is a major concern
Externí odkaz:
https://doaj.org/article/320147a5a90d41e0b319014749a3c315
Autor:
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmüller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100157- (2023)
Summary: WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect gene regulation via post-translational modification of h
Externí odkaz:
https://doaj.org/article/c93dab48c10f4d9a93b8d87c61542fd8
Autor:
Laura Krumm, Tatyana Pozner, Johanna Kaindl, Martin Regensburger, Claudia Günther, Soeren Turan, Reza Asadollahi, Anita Rauch, Beate Winner
Publikováno v:
Stem Cell Research, Vol 56, Iss , Pp 102520- (2021)
Pathogenic bi-allelic variants in the SPG11 gene result in rare motor neuron disorders such as Hereditary Spastic Paraplegia type 11, Charcot-Marie Tooth, and Juvenile Amyotrophic Lateral Sclerosis-5. The main challenge in SPG11-linked disease resear
Externí odkaz:
https://doaj.org/article/1e3dd390cc214c3c924d5363a917a04f
Autor:
Anaïs Begemann, Mario A. Acuña, Markus Zweier, Marie Vincent, Katharina Steindl, Ruxandra Bachmann-Gagescu, Annette Hackenberg, Lucia Abela, Barbara Plecko, Judith Kroell-Seger, Alessandra Baumer, Kazuhiro Yamakawa, Yushi Inoue, Reza Asadollahi, Heinrich Sticht, Hanns Ulrich Zeilhofer, Anita Rauch
Publikováno v:
Molecular Medicine, Vol 25, Iss 1, Pp 1-15 (2019)
Abstract Background Deleterious variants in the voltage-gated sodium channel type 2 (Nav1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (D
Externí odkaz:
https://doaj.org/article/fbf502b38d494e16bcea44feee0b6afb
Autor:
Reza Asadollahi, Christian Britschgi, Pascal Joset, Beatrice Oneda, Detlev Schindler, Urs R. Meier, Anita Rauch
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background A minority of breast cancer (BC) patients suffer from severe reaction to adjuvant radiotherapy (RT). Although deficient DNA double‐strand break repair is considered the main basis for the reactions, pretreatment identification o
Externí odkaz:
https://doaj.org/article/fb0b20ace0eb418a9fa0e224a15b9fb9
Autor:
Johannes Trück, Seraina Prader, Giancarlo Natalucci, Cornelia Hagmann, Barbara Brotschi, Janet Kelly, Dirk Bassler, Katharina Steindl, Anita Rauch, Matthias Baumgartner, Ralph Fingerhut, Mathias Hauri-Hohl, Tayfun Güngör, Jana Pachlopnik Schmid, Christoph Berger, Janine Reichenbach
Publikováno v:
Swiss Medical Weekly, Vol 150, Iss 2526 (2020)
The recent introduction of newborn screening for severe primary T and B cell deficiencies in Switzerland allows rapid identification of patients with severe combined immunodeficiency (SCID). Outcomes for SCID are greatly improved by early diagnosis a
Externí odkaz:
https://doaj.org/article/210ecaf85fbf4c52ae304204e20c1842
Autor:
Edna Grünblatt, Beatrice Oneda, Arif B. Ekici, Juliane Ball, Julia Geissler, Steffen Uebe, Marcel Romanos, Anita Rauch, Susanne Walitza
Publikováno v:
BMC Medical Genomics, Vol 10, Iss 1, Pp 1-11 (2017)
Abstract Background Obsessive-Compulsive Disorder (OCD) is a common and chronic disorder in which a person has uncontrollable, reoccurring thoughts and behaviours. It is a complex genetic condition and, in case of early onset (EO), the patients manif
Externí odkaz:
https://doaj.org/article/d05bfc8c4e814633a472807af216292d