Zobrazeno 1 - 9
of 9
pro vyhledávání: '"P R Murdock"'
Autor:
Ronit Marom, Bo Zhang, Megan E Washington, I-Wen Song, Lindsay C Burrage, Vittoria C Rossi, Ava S Berrier, Anika Lindsey, Jacob Lesinski, Michael L Nonet, Jian Chen, Dustin Baldridge, Gary A Silverman, V Reid Sutton, Jill A Rosenfeld, Alyssa A Tran, M John Hicks, David R Murdock, Hongzheng Dai, MaryAnn Weis, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Richard Caswell, Carrie Pottinger, Deirdre Cilliers, Karen Stals, Undiagnosed Diseases Network, David Eyre, Deborah Krakow, Tim Schedl, Stephen C Pak, Brendan H Lee
Publikováno v:
PLoS Genetics, Vol 19, Iss 11, p e1011005 (2023)
BackgroundKinesin motor proteins transport intracellular cargo, including mRNA, proteins, and organelles. Pathogenic variants in kinesin-related genes have been implicated in neurodevelopmental disorders and skeletal dysplasias. We identified de novo
Externí odkaz:
https://doaj.org/article/d6d02fb43ddb4cad86147275323bfe06
Autor:
Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm, Medical Genome Initiative
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-13 (2022)
Abstract Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these
Externí odkaz:
https://doaj.org/article/6905d648dde247ee8ce993083466d75f
Autor:
Ishrut Hussain, P R Murdock, David Simmons, S J Ratcliffe, G A Chapman, T T Testa, Thomas D. Meek, David R. Howlett, David J. Powell, Klaus Schneider, Desmond Ryan, Conrad Gerald Chapman, David G. Tew, Frank S. Walsh, Christopher Southan, Colin Dingwall, Gary Christie, L Gilmour, D Tattersall
Publikováno v:
Molecular and Cellular Neuroscience. 16:609-619
Sequential proteolytic processing of the Amyloid Precursor Protein (APP) by beta- and gamma-secretases generates the 4-kDa amyloid (A beta) peptide, a key component of the amyloid plaques seen in Alzheimer's disease (AD). We and others have recently
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1e8e6f025e8ce27fcedcacf18a61d30
https://doi.org/10.1006/mcne.2000.0884
https://doi.org/10.1006/mcne.2000.0884
Autor:
I R, Jowsey, A M, Thomson, J U, Flanagan, P R, Murdock, G B, Moore, D J, Meyer, G J, Murphy, S A, Smith, J D, Hayes
Publikováno v:
The Biochemical journal. 359(Pt 3)
GSH-dependent prostaglandin D(2) synthase (PGDS) enzymes represent the only vertebrate members of class Sigma glutathione S-transferases (GSTs) identified to date. Complementary DNA clones encoding the orthologous human and rat GSH-dependent PGDS (hP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::70c928d4a2df28bf9b61d7935f65ffb7
https://pubmed.ncbi.nlm.nih.gov/11672424
https://pubmed.ncbi.nlm.nih.gov/11672424
Autor:
D, Smart, J C, Jerman, S J, Brough, S L, Rushton, P R, Murdock, F, Jewitt, N A, Elshourbagy, C E, Ellis, D N, Middlemiss, F, Brown
Publikováno v:
British journal of pharmacology. 128(1)
The cellular mechanisms underlying the physiological effects of the orexins are poorly understood. Therefore, the pharmacology of the recombinant human orexin receptors was studied using FLIPR. Intracellular calcium ([Ca2+]i) was monitored in Chinese
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1fd31e4f05a2302f663c56ddd6fbd113
https://pubmed.ncbi.nlm.nih.gov/10498827
https://pubmed.ncbi.nlm.nih.gov/10498827
Publikováno v:
Biochemical Society transactions. 26(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::01a6a972fd2346cd9c951b56d4a061f2
https://pubmed.ncbi.nlm.nih.gov/10047876
https://pubmed.ncbi.nlm.nih.gov/10047876
Publikováno v:
Biochemical Society transactions. 26(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6e6264429505bc8c9dc4be20ab4a7af2
https://pubmed.ncbi.nlm.nih.gov/10047877
https://pubmed.ncbi.nlm.nih.gov/10047877
Autor:
M, Sarau H, S, Ames R, J, Chambers, C, Ellis, N, Elshourbagy, J, Foley J, B, Schmidt D, M, Muccitelli R, O, Jenkins, R, Murdock P, C, Herrity N, W, Halsey, G, Sathe, I, Muir A, P, Nuthulaganti, M, Dytko G, T, Buckley P, S, Wilson, J, Bergsma D, W, Hay D
Publikováno v:
Molecular Pharmacology; September 1999, Vol. 56 Issue: 3 p657-63, 7p
Autor:
S. Giraudeau, Fabienne, Walhin, Jean-Philippe, R. Murdock, Paul, K. Spurr, Nigel, C. Gray, Ian
Publikováno v:
Comparative and Functional Genomics; 2005, Vol. 6 Issue: 1