Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Tobias Bonifert"'
Autor:
Siobhan S. Pattwell, Sonali Arora, Patrick J. Cimino, Tatsuya Ozawa, Frank Szulzewsky, Pia Hoellerbauer, Tobias Bonifert, Benjamin G. Hoffstrom, Norman E. Boiani, Hamid Bolouri, Colin E. Correnti, Barbara Oldrini, John R. Silber, Massimo Squatrito, Patrick J. Paddison, Eric C. Holland
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Tropomyosin receptor kinase B (TrkB), encoded by the neurotrophic tyrosine receptor kinase 2 (NTRK2) gene, exhibits intricate splicing patterns and post-translational modifications. Here, the authors perform whole gene and transcript-level analyses a
Externí odkaz:
https://doaj.org/article/e76b737ec4c34d949cb32dc9395b4f44
Autor:
Tobias Bonifert, Irene Gonzalez Menendez, Florian Battke, Yvonne Theurer, Matthis Synofzik, Ludger Schöls, Bernd Wissinger
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)
Inherited optic neuropathies (ION) present an important cause of blindness in the European working-age population. Recently we reported the discovery of four independent families with deep intronic mutations in the main inherited optic neuropathies g
Externí odkaz:
https://doaj.org/article/4e6fe53fc26147ffbee3823a07bc026a
Autor:
Patrick J. Cimino, Sonali Arora, Tobias Bonifert, Norman Boiani, Tatsuya Ozawa, Barbara Oldrini, Frank Szulzewsky, Eric C. Holland, Hamid Bolouri, Massimo Squatrito, Siobhan S. Pattwell, Colin Correnti, Patrick J. Paddison, Pia Hoellerbauer, Benjamin G. Hoffstrom, John R. Silber
Publikováno v:
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Repisalud
Instituto de Salud Carlos III (ISCIII)
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Repisalud
Instituto de Salud Carlos III (ISCIII)
Independent scientific achievements have led to the discovery of aberrant splicing patterns in oncogenesis, while more recent advances have uncovered novel gene fusions involving neurotrophic tyrosine receptor kinases (NTRKs) in gliomas. The explorat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e615877ea5faa94eabc826f51c611660
http://europepmc.org/articles/PMC7293284
http://europepmc.org/articles/PMC7293284
Publikováno v:
Acta Ophthalmologica. 95
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e0ca80c141d5de9b7b68830699daa623
https://doi.org/10.1111/j.1755-3768.2017.03173
https://doi.org/10.1111/j.1755-3768.2017.03173
Publikováno v:
Neuro Oncol
Chemical or genetic perturbation of the spliceosome function may represent a therapeutic opportunity for Glioblastoma multiforme (GBM) and other cancers. We and others have shown that oncogenic MYC activity causes spliceosome vulnerability and leads
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd1708e26ec776cda99f1e2e423158dd
https://doi.org/10.1093/neuonc/noz175.160
https://doi.org/10.1093/neuonc/noz175.160
Autor:
Matthis Synofzik, I. Gonzalez-Menendez, Yvonne Theurer, L. Schoels, Tobias Bonifert, Bernd Wissinger
Publikováno v:
Acta Ophthalmologica. 93
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d0248d16077941d0e15d5920c79afc0a
https://doi.org/10.1111/j.1755-3768.2015.0112
https://doi.org/10.1111/j.1755-3768.2015.0112
Autor:
Marion Batra, Tobias Bonifert, Valerio Carelli, Michael A. Gonzalez, Yvonne Theurer, Caroline Schoenfeld, Ludger Schöls, Bernd Wissinger, Fiorella Speziani, Rebecca Schüle, Torsten Kluba, Kathrin N. Karle, Felix Tonagel, Stephan Züchner, Christian Wilhelm, Matthis Synofzik, Julia Wolf, York Kamenisch
Publikováno v:
Brain 137(8), 2164-2177 (2014). doi:10.1093/brain/awu165
The genetic basis of many optic neuropathies remains unclear. Bonifert et al. show that deep intronic OPA1 mutations can account for the disease in a number of previously unsolved cases. Moreover, an OPA1 modifier variant can generate syndromic 'opti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e85fdb5f1d55ecb6f061f957c95e9acd
https://pubmed.ncbi.nlm.nih.gov/24970096
https://pubmed.ncbi.nlm.nih.gov/24970096
Autor:
Bernd Wissinger, Florian Battke, Matthis Synofzik, Yvonne Theurer, Tobias Bonifert, Ludger Schöls, Irene Gonzalez Menendez
Publikováno v:
Molecular Therapy. Nucleic Acids
Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)
Molecular Therapy / Nucleic Acids 5(11), e390 (2016). doi:10.1038/mtna.2016.93
Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)
Molecular Therapy / Nucleic Acids 5(11), e390 (2016). doi:10.1038/mtna.2016.93
Inherited optic neuropathies (ION) present an important cause of blindness in the European working-age population. Recently we reported the discovery of four independent families with deep intronic mutations in the main inherited optic neuropathies g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b95f0a11396559aad4e1053cd2111b7f
http://europepmc.org/articles/PMC5155325
http://europepmc.org/articles/PMC5155325