Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Miguel Rodriguez de los Santos"'
Autor:
Ariela S. Buxbaum Grice, Laura Sloofman, Tess Levy, Hannah Walker, Gauri Ganesh, Miguel Rodriguez de los Santos, Pardis Amini, Joseph D. Buxbaum, Alexander Kolevzon, Ana Kostic, Michael S. Breen
Publikováno v:
Translational Psychiatry, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Activity-dependent neuroprotective protein (ADNP) syndrome is a rare neurodevelopmental disorder resulting in intellectual disability, developmental delay and autism spectrum disorder (ASD) and is due to mutations in the ADNP gene. Ketamine
Externí odkaz:
https://doaj.org/article/6e57f1b4a2774ec6954a4b8cb0ff5b70
Autor:
Miguel Rodriguez de los Santos, Brian H. Kopell, Ariela Buxbaum Grice, Gauri Ganesh, Andy Yang, Pardis Amini, Lora E. Liharska, Eric Vornholt, John F. Fullard, Pengfei Dong, Eric Park, Sarah Zipkowitz, Deepak A. Kaji, Ryan C. Thompson, Donjing Liu, You Jeong Park, Esther Cheng, Kimia Ziafat, Emily Moya, Brian Fennessy, Lillian Wilkins, Hannah Silk, Lisa M. Linares, Brendan Sullivan, Vanessa Cohen, Prashant Kota, Claudia Feng, Jessica S. Johnson, Marysia-Kolbe Rieder, Joseph Scarpa, Girish N. Nadkarni, Minghui Wang, Bin Zhang, Pamela Sklar, Noam D. Beckmann, Eric E. Schadt, Panos Roussos, Alexander W. Charney, Michael S. Breen
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Adenosine-to-inosine (A-to-I) editing is a prevalent post-transcriptional RNA modification within the brain. Yet, most research has relied on postmortem samples, assuming it is an accurate representation of RNA biology in the living brain. W
Externí odkaz:
https://doaj.org/article/da9c46017e36443fb5aa615c25a1975d
Autor:
Miguel Rodriguez de los Santos, Brian H. Kopell, Ariela Buxbaum Grice, Gauri Ganesh, Andy Yang, Pardis Amini, Lora E. Liharska, Eric Vornholt, John F. Fullard, Pengfei Dong, Eric Park, Sarah Zipkowitz, Deepak A. Kaji, Ryan C. Thompson, Donjing Liu, You Jeong Park, Esther Cheng, Kimia Ziafat, Emily Moya, Brian Fennessy, Lillian Wilkins, Hannah Silk, Lisa M. Linares, Brendan Sullivan, Vanessa Cohen, Prashant Kota, Claudia Feng, Jessica S. Johnson, Marysia-Kolbe Rieder, Joseph Scarpa, Girish N. Nadkarni, Minghui Wang, Bin Zhang, Pamela Sklar, Noam D. Beckmann, Eric E. Schadt, Panos Roussos, Alexander W. Charney, Michael S. Breen
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/6b78479b7e5842348e4a57387c084ff0
Autor:
Lars Wittler, Marion Rivalan, Julika Pitsch, Peter N. Robinson, Albert J. Becker, Melissa Long, Despina Tsortouktzidis, Anne Voigt, Björn Fischer-Zirnsak, Stefan Mundlos, Guido Vogt, Peter Krawitz, York Winter, Uwe Kornak, Dietmar Schmitz, Karl Schilling, Alexej Knaus, Miguel Rodriguez de los Santos, Laura Moreno Velasquez, Denise Horn, Bernd Timmermann, Daniele Mattei, Alexander Stumpf, Friederike S. David
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance Inherited GPI-anchor biosynthesis deficiencies (IGDs) explain many cases of syndromic intellectual disability. Although diagnostic methods are improving, the pathophysiology underlying the disease remains unclear. Furthermore, we lack ro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::906948d9da850773fe49d853bb61422d
http://europepmc.org/articles/PMC7812744
http://europepmc.org/articles/PMC7812744
Autor:
Miguel Rodriguez de los Santos, Marie Coutelier, Kornelia Neveling, Peter Krawitz, Stefan Mundlos, Jakob M. Goldmann, Marten Jäger, Alexej Knaus, Manuel Holtgrewe, Gabriele Hildebrand, Jean Tori Pantel, Karl Sperling, Max Schubach, Dieter Beule
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-5 (2018)
Scientific Reports
Scientific Reports, 8
Scientific Reports
Scientific Reports, 8
A genome-wide evaluation of the effects of ionizing radiation on mutation induction in the mouse germline has identified multisite de novo mutations (MSDNs) as marker for previous exposure. Here we present the results of a small pilot study of whole
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dd39efcb251e19bd63ebb798f8d4954
http://link.springer.com/article/10.1038/s41598-018-33066-x
http://link.springer.com/article/10.1038/s41598-018-33066-x