Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Cima Saghira"'
Autor:
Elena Lo Furno, Isabelle Busseau, Antoine Aze, Claudio Lorenzi, Cima Saghira, Matt C Danzi, Stephan Zuchner, Domenico Maiorano
Publikováno v:
Nucleic Acids Research
In early embryogenesis of fast cleaving embryos, DNA synthesis is short and surveillance mechanisms preserving genome integrity are inefficient, implying the possible generation of mutations. We have analyzed mutagenesis in Xenopus laevis and Drosoph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a0a56c5aea1f78e5140d8f4f77ae942
http://europepmc.org/articles/PMC8789082
http://europepmc.org/articles/PMC8789082
Autor:
Arlet Maria Acanda de la Rocha, Maggie Fader, Ebony R. Coats, Joseph Dunn, Leat Perez, Carolina Velasquez, Jeanette Galano, Cima Saghira, Ileana Sotto, Yana Vorontsova, Ziad Khatib, Haneen Abdella, Cristina M. Andrade-Feraud, Alexa Jacome, Victoria Reis, Lilliam Rimblas, Nicole Tomas, Paula S. Espinal, Noah Berlow, Tomás R. Guilarte, Jennifer McCafferty-Fernandez, Daria Salyakina, Diana J. Azzam
Publikováno v:
Cancer Research. 83:LB358-LB358
Personalized medicine often serves as the first salvage therapy strategy when standard oncology treatments fail. However, most precision oncology approaches rely on molecular profiling which, unfortunately, provides therapeutic options for less than
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e57c7ba3b7f62553b6d80a76193d4d6b
https://doi.org/10.1158/1538-7445.am2023-lb358
https://doi.org/10.1158/1538-7445.am2023-lb358
Autor:
Arlet Maria Acanda de la Rocha, Maggie Fader, Ebony Coats, Joseph Dunn, Leat Perez, Cima Saghira, Ileana Sotto, Ziad Khatib, Ossama Maher, Haneen Abdella, Cristina M. Andrade-Feraud, Alexa Jacome, Lilliam Rimblas, Paula S. Espinal, Tomás R. Guilarte, Jennifer McCafferty-Fernandez, Daria Salyakina, Diana J. Azzam
Publikováno v:
Cancer Research. 82:4103-4103
Pediatric cancers are fundamentally different from those in adults, with lower frequency of genetic mutations and fewer options for targeted therapies. The implementation of functional precision medicine (FPM) - the integration of ex vivo drug screen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::241211f76efaa6179963106398ff40c4
https://doi.org/10.1158/1538-7445.am2022-4103
https://doi.org/10.1158/1538-7445.am2022-4103
Autor:
Cristina M Andrade-Feraud, Arlet M. Acanda de la Rocha, Ileana Sotto, Haneen Abdella, Maggie Fader, Daria Salyakina, Michelin Janvier, Tomás R. Guilarte, Vanessa Berrios, Mathew Bittle, Ziad Khatib, Ebony R Coats, Diana J. Azzam, Jennifer McCafferty-Fernandez, Paula S Espinal, Rojesh Shakya, Cima Saghira
Publikováno v:
JCO Precision Oncology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0bac844473b559c71cb9a80bb4ed3b0
http://europepmc.org/articles/PMC8563073
http://europepmc.org/articles/PMC8563073
Autor:
Stephan Züchner, Cima Saghira, Dana M. Bis, Adriana P. Rebelo, Mario Saporta, Renata de Moraes Maciel
Publikováno v:
Experimental Neurology. 307:155-163
Local axonal translation of specific mRNA species plays an important role in axon maintenance, plasticity during development and recovery from injury. Recently, disrupted axonal mRNA transport and translation have been linked to neurodegenerative dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc861f96c118ba25ab69c95b39e880b0
https://doi.org/10.1016/j.expneurol.2018.06.008
https://doi.org/10.1016/j.expneurol.2018.06.008
Autor:
Dana Šafka Brožková, Rene Barro-Soria, H. Peter Larsson, Petra Laššuthová, Shawna M. E. Feely, Pavel Seeman, Eric Powell, Yi-Chung Lee, Elena Buglo, Daniel G. Isom, Cima Saghira, Feifei Tao, Royston Ong, Yunhong Bai, Steven S. Scherer, Lorna Marns, Chelsea Bacon, Gianina Ravenscroft, Megan F. Baxter, Lisa Abreu, Stephan Züchner, Jana Haberlová, Phillipa J. Lamont, Adriana P. Rebelo, Fiore Manganelli, Mark R. Davis, Lucio Santoro, Steve Courel, Ki Wha Chung, Dana M. Bis, Radim Mazanec, Michael E. Shy, Byung Ok Choi, Nigel G. Laing
Publikováno v:
The American Journal of Human Genetics. 102:505-514
Although mutations in more than 90 genes are known to cause CMT, the underlying genetic cause of CMT remains unknown in more than 50% of affected individuals. The discovery of additional genes that harbor CMT2-causing mutations increasingly depends o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cedc66075ce50765bde1ecbd17fed84
https://doi.org/10.1016/j.ajhg.2018.01.023
https://doi.org/10.1016/j.ajhg.2018.01.023
Autor:
Stephan Züchner, Alleene V. Strickland, Michael E. Shy, Mary M. Reilly, Cima Saghira, Steven S. Scherer, David Stanek, David N. Herrmann, Dana M. Bis
Publikováno v:
Human mutation. 39(5)
Charcot-Marie-Tooth disease (CMT) is an umbrella term for inherited neuropathies affecting an estimated one in 2,500 people. Over 120 CMT and related genes have been identified and clinical gene panels often contain more than 100 genes. Such a large
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c95feba9f0343f3bbc305088814e270
https://pubmed.ncbi.nlm.nih.gov/29473246
https://pubmed.ncbi.nlm.nih.gov/29473246
Autor:
Stanek, David1 (AUTHOR), Bis-Brewer, Dana M2 (AUTHOR), Saghira, Cima2 (AUTHOR), Danzi, Matt C2 (AUTHOR), Seeman, Pavel1 (AUTHOR), Lassuthova, Petra1 (AUTHOR) petra.lasssuthova@fnmotol.cz, Zuchner, Stephan2 (AUTHOR)
Publikováno v:
Database: The Journal of Biological Databases & Curation. 2020, Vol. 2020, p1-7. 7p.
Publikováno v:
Journal of the Peripheral Nervous System. Dec2018, Vol. 23 Issue 4, p249-405. 157p.
Autor:
Lo Furno, Elena, Busseau, Isabelle, Aze, Antoine, Lorenzi, Claudio, Saghira, Cima, Danzi, Matt C, Zuchner, Stephan, Maiorano, Domenico
Publikováno v:
Nucleic Acids Research; 1/25/2022, Vol. 50 Issue 2, p885-898, 14p