Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Richard Mushlin"'
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
Publikováno v:
IBM Systems Journal. 46:135-149
In this paper we describe a graph-theoretical approach for pattern discovery that is especially useful in epidemiological research when applied to case-control studies involving categorical features such as genotypes and exposures. Whereas existing a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7706f9a2215b6741151ece3508b3cec8
https://doi.org/10.1147/sj.461.0135
https://doi.org/10.1147/sj.461.0135
Autor:
Richard Mushlin, Barry Robson
Publikováno v:
Journal of Proteome Research. 4:275-299
This paper, in the area of clinical bioinformatics, highlights relatively efficient means of storing, exchanging, protecting, and searching human and other genomic data, so as to make the data securely accessible to researchers while respecting patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eabc1ac315eab9d1ffcdfcf8ded3217
https://doi.org/10.1021/pr0498483
https://doi.org/10.1021/pr0498483
Autor:
Barry Robson, Richard Mushlin
Publikováno v:
Journal of Proteome Research. 3:930-948
The convergence of clinical medicine and the Life Sciences, commencing with opportunities in clinical trials and clinically linked medical research, presents many novel challenges. The Genomic Messaging System (GMS) described here was originally deve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d694c740dea740a48485914f0c6193c6
https://doi.org/10.1021/pr0341336
https://doi.org/10.1021/pr0341336
Autor:
Liliana B. Menalled, Russell G. Port, Justin Torello, Carol Murphy, David Howland, Sylvie Ramboz, Andrea E. Kudwa, Dani Brunner, John Fitzpatrick, Kristi McConnell, Sam F. Miller, Stephen Oakeshott, Richard Mushlin
Publikováno v:
PLoS Currents
The genome of the Bacterial Artificial Chromosome (BAC) transgenic mouse model of Huntingtons Disease (BAC HD) contains the 170 kb human HTT locus modified by the addition of exon 1 with 97 mixed CAA-CAG repeats. BAC HD mice present robust behavioral
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd977f1916d3f62d12f98413dc4adad7
http://europepmc.org/articles/PMC3770835
http://europepmc.org/articles/PMC3770835
Autor:
Liliana B. Menalled, Fuat Balcı, Stephen Oakeshott, Dani Brunner, David Howland, Jul Lea Shamy, David A. Connor, Russell G. Port, Sylvie Ramboz, Bassem F. El-Khodor, Ahmad Paintdakhi, Seung Kwak, Richard Mushlin, Igor Filippov
Publikováno v:
PLOS Currents
PLoS Currents
PLoS Currents
Phenotyping with traditional behavioral assays constitutes a major bottleneck in the primary screening, characterization, and validation of genetic mouse modelsof disease, leading to downstream delays in drug discovery efforts. We present a novel and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e314099189b8d0189d2e1d4f902061f7
http://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/1255
http://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/1255
Autor:
Olga Chomicova, Margaret L. Winberg, Bassem F. El-Khodor, Richard Mushlin, Sylvie Ramboz, Tara Marino, Kim Cirillo, Rachel Charney, Jose Beltran
Publikováno v:
Journal of neuroscience methods. 209(2)
Proximal Spinal Muscular Atrophy (SMA) is a debilitating neuromuscular disease and a leading inherited genetic cause of infant death. To date, there is no effective treatment for SMA. The SMNΔ7 neonatal mouse model of SMA recapitulates key features
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b1acd8341dce11536f0f2feb6e53958
https://pubmed.ncbi.nlm.nih.gov/22750651
https://pubmed.ncbi.nlm.nih.gov/22750651
Publikováno v:
PLoS ONE
PLoS ONE, Vol 4, Iss 3, p e4862 (2009)
PLoS ONE, Vol 4, Iss 3, p e4862 (2009)
Background Commonly-occurring disease etiology may involve complex combinations of genes and exposures resulting in etiologic heterogeneity. We present a computational algorithm that employs clique-finding for heterogeneity and multidimensionality in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97da2d3a7cacb4bcddd9d3e9014698e5
https://pubmed.ncbi.nlm.nih.gov/19287484
https://pubmed.ncbi.nlm.nih.gov/19287484
Autor:
Martin M. Oken, Richard Mushlin, Gareth J. Morgan, Antje Hoering, Gowtham Atluri, Gang Fang, Christine Ramos, Bart Barlogie, Susanna Jacobus, David Johnson, Vincent Rajkumar, Michael S. Katz, Majda Haznadar, Vipin Kumar, Brian G.M. Durie, Jeff Haessler, John Crowley, Michael Steinbach, Rohit Gupta, Brian G Van Ness, Philip R. Greipp
Publikováno v:
BMC Medicine
BMC Medicine, Vol 6, Iss 1, p 26 (2008)
BMC Medicine, Vol 6, Iss 1, p 26 (2008)
Background We have engaged in an international program designated the Bank On A Cure, which has established DNA banks from multiple cooperative and institutional clinical trials, and a platform for examining the association of genetic variations with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97c695daf5903ed1df9adf898000ca66
https://doi.org/10.1186/1741-7015-6-26
https://doi.org/10.1186/1741-7015-6-26