Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Sylvie Ramboz"'
Autor:
Alberto Ambesi-Impiombato, Kimberly Cox, Sylvie Ramboz, Daniela Brunner, Mukesh Bansal, Emer Leahy
Publikováno v:
Frontiers in Pharmacology, Vol 14 (2023)
Drug-induced Behavioral Signature Analysis (DBSA), is a machine learning (ML) method for in silico screening of compounds, inspired by analytical methods quantifying gene enrichment in genomic analyses. When applied to behavioral data it can identify
Externí odkaz:
https://doaj.org/article/78fbc2a580bc4b54a731f043a3268675
Autor:
María Arroyo-Araujo, Bernhard Voelkl, Clément Laloux, Janja Novak, Bastijn Koopmans, Ann-Marie Waldron, Isabel Seiffert, Helen Stirling, Katharina Aulehner, Sanna K Janhunen, Sylvie Ramboz, Heidrun Potschka, Johanna Holappa, Tania Fine, Maarten Loos, Bruno Boulanger, Hanno Würbel, Martien J Kas
Publikováno v:
PLoS Biology, Vol 20, Iss 11, p e3001886 (2022)
The influence of protocol standardization between laboratories on their replicability of preclinical results has not been addressed in a systematic way. While standardization is considered good research practice as a means to control for undesired ex
Externí odkaz:
https://doaj.org/article/42a716b06c6540c4b8ce60ef682cb28c
Autor:
Deanna M. Marchionini, Jeh-Ping Liu, Alberto Ambesi-Impiombato, Kimberly Kerker, Kim Cirillo, Mukesh Bansal, Rich Mushlin, Daniela Brunner, Sylvie Ramboz, Mei Kwan, Kirsten Kuhlbrodt, Karsten Tillack, Finn Peters, Leena Rauhala, John Obenauer, Jonathan R. Greene, Christopher Hartl, Vinod Khetarpal, Brenda Lager, Jim Rosinski, Jeff Aaronson, Morshed Alam, Ethan Signer, Ignacio Muñoz-Sanjuán, David Howland, Scott O. Zeitlin
Publikováno v:
JCI Insight, Vol 7, Iss 20 (2022)
We have developed an inducible Huntington’s disease (HD) mouse model that allows temporal control of whole-body allele-specific mutant huntingtin (mHtt) expression. We asked whether moderate global lowering of mHtt (~50%) was sufficient for long-te
Externí odkaz:
https://doaj.org/article/134f08ad54bc41838bc7ff1320c3e0ea
Autor:
Nicole K. Polinski, Terina N. Martinez, Sylvie Ramboz, Michael Sasner, Mark Herberth, Robert Switzer, Syed O. Ahmad, Lee J. Pelligrino, Sean W. Clark, Jacob N. Marcus, Sean M. Smith, Kuldip D. Dave, Mark A. Frasier
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 6 (2022)
Heterozygous mutations in the GBA1 gene – encoding lysosomal glucocerebrosidase (GCase) – are the most common genetic risk factors for Parkinson's disease (PD). Experimental evidence suggests a correlation between decreased GCase activity and acc
Externí odkaz:
https://doaj.org/article/2ff4a4f7438a460f8a91ec3fc7c58bc4
Autor:
Kuldip D. Dave, Shehan De Silva, Niketa P. Sheth, Sylvie Ramboz, Melissa J. Beck, Changyu Quang, Robert C. Switzer, III, Syed O. Ahmad, Susan M. Sunkin, Dan Walker, Xiaoxia Cui, Daniel A. Fisher, Aaron M. McCoy, Kevin Gamber, Xiaodong Ding, Matthew S. Goldberg, Stanley A. Benkovic, Meredith Haupt, Marco A.S. Baptista, Brian K. Fiske, Todd B. Sherer, Mark A. Frasier
Publikováno v:
Neurobiology of Disease, Vol 70, Iss , Pp 190-203 (2014)
Recessively inherited loss-of-function mutations in the PTEN-induced putative kinase 1(Pink1), DJ-1 (Park7) and Parkin (Park2) genes are linked to familial cases of early-onset Parkinson's disease (PD). As part of its strategy to provide more tools f
Externí odkaz:
https://doaj.org/article/3b4ee316f83d4fc3bf43bea037f0fae8
Autor:
Liliana B Menalled, Andrea E Kudwa, Steve Oakeshott, Andrew Farrar, Neil Paterson, Igor Filippov, Sam Miller, Mei Kwan, Michael Olsen, Jose Beltran, Justin Torello, Jon Fitzpatrick, Richard Mushlin, Kimberly Cox, Kristi McConnell, Matthew Mazzella, Dansha He, Georgina F Osborne, Rand Al-Nackkash, Gill P Bates, Pasi Tuunanen, Kimmo Lehtimaki, Dani Brunner, Afshin Ghavami, Sylvie Ramboz, Larry Park, Douglas Macdonald, Ignacio Munoz-Sanjuan, David Howland
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e99520 (2014)
Huntington's disease (HD) is an autosomal dominant, progressive neurodegenerative disorder caused by expansion of CAG repeats in the huntingtin gene. Tissue transglutaminase 2 (TG2), a multi-functional enzyme, was found to be increased both in HD pat
Externí odkaz:
https://doaj.org/article/32ac64f0a9ee4c26afbcfdfbe927af3c
Autor:
Liliana B Menalled, Andrea E Kudwa, Sam Miller, Jon Fitzpatrick, Judy Watson-Johnson, Nicole Keating, Melinda Ruiz, Richard Mushlin, William Alosio, Kristi McConnell, David Connor, Carol Murphy, Steve Oakeshott, Mei Kwan, Jose Beltran, Afshin Ghavami, Dani Brunner, Larry C Park, Sylvie Ramboz, David Howland
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e49838 (2012)
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterized by motor, cognitive and psychiatric manifestations. Since the mutation responsible for the disease was identified as an unstable expansion of CAG repeats in t
Externí odkaz:
https://doaj.org/article/7b9395c26cd34e0482a329a3cc5cbeb5
Autor:
Yasaman Ataei, Larry Park, D. James Surmeier, B. Joseph Vu, Seung Kwak, Richard T. Surosky, Anand Narayanan, David A. Shivak, Josee Laganiere, Christer Halldin, Andrea Varrone, Matthew C. Mendel, Karsten Tillack, Lei Zhang, Bryan Zeitler, Dmitry Guschin, Lexi Kopan, Sarah J. Hinkley, Kimberly Marlen, Jocelynn R. Pearl, Qi Yu, Taneli Heikkinen, Annette Gärtner, Yalda Sedaghat, Christina Thiede, Miklós Tóth, Jennifer M. Cherone, David Paschon, Jyothisri Kondapalli, Andrea E. Kudwa, Ladislav Mrzljak, Rainier Amora, Kimmo Lehtimäki, Edward J. Rebar, Lenke Tari, Ignacio Munoz-Sanjuan, Jeffrey C. Miller, Sylvie Ramboz, Marie Svedberg, Steven Froelich, Irina Ankoudinova, Philip D. Gregory, Stephen Lam, Michelle Day, Jonathan Bard, Hoang Oanh B. Nguyen, Fyodor D. Urnov, Davis Li, Jenny Haggkvist, H. Steve Zhang, Guijuan Qiao
Publikováno v:
Nature Medicine. 25:1131-1142
Huntington’s disease (HD) is a dominantly inherited neurodegenerative disorder caused by a CAG trinucleotide expansion in the huntingtin gene (HTT), which codes for the pathologic mutant HTT (mHTT) protein. Since normal HTT is thought to be importa
Autor:
Merel Ritskes-Hoitinga, Ulrich Dirnagl, Malcolm Macleod, Thomas Steckler, Jan Vollert, Esther Schenker, Anton Bespalov, Hanno Wuerbel, Heidrun Potschka, Kimberley E Wever, Bruce Altevogt, Andrew S C Rice, Judi Clark, Emily Sena, Bruno Boulanger, Gernot Riedel, Bettina Platt, Annesha Sil, Martien J Kas, Bernhard Voelkl, Mathias Jucker, Bettina M Wegenast-braun, René Bernard, Esmeralda Heiden, Ann-marie Waldron, Maarten Loos, Pim Drinkenburg, Juan Diego Pita almenar, David Gallacher, Anja Gilis, Greet Teuns, Karsten Wicke, Sabine Grote, Bernd Sommer, Janet Nicholson, Sanna Janhunen, Sami Virtanen, Kristin Cheng, Sylvie Ramboz, Emer Leahy, Isabel A Lefevre, Fiona Ducrey, Javier Guillen, Patri Vergara, Kimberley Wever, Martin Michel, Tom van de Casteele, Martin C Michel, Tom Van De Casteele, Henk Van Der Linde, Isabel Seiffert
Publikováno v:
BMJ Open Science, Vol 4, Iss 1 (2020)
Over the last two decades, awareness of the negative repercussions of flaws in the planning, conduct and reporting of preclinical research involving experimental animals has been growing. Several initiatives have set out to increase transparency and
Autor:
Igor Filipov, Vanessa C. Wheeler, Matthew J. Mazzella, Liliana B. Menalled, Melinda C Ruiz, Ana Sanchez, Sylvie Ramboz, Brenda Lager, Marcy E. MacDonald, Ian Russell, Kimberly Cox, Miguel A. Gomez, Afshin Ghavami, Vadim Alexandrov, Seung Kwak, Dani Brunner, Justin Torello, Jeff Aaronson, Mei Kwan, Andrea E. Kudwa, James F. Gusella, Judy Watson-Johnson, Jim Rosinski, David Howland, Emily Sabath
Publikováno v:
Nature Biotechnology. 34:838-844
Rapid technological advances for the frequent monitoring of health parameters have raised the intriguing possibility that an individual's genotype could be predicted from phenotypic data alone. Here we used a machine learning approach to analyze the