Search Results - "Samuel, A R"

Somatic mutations at EZH2 Y641 act dominantly through a mechanism of selectively altered PRC2 catalytic activity, to increase H3K27 trimethylation by Yap, Damian B., Chu, Justin, Berg, Tobias, Schapira, Matthieu, Cheng, S.-W. Grace, Moradian, Annie, Morin, Ryan D., Mungall, Andrew J., Meissner, Barbara, Boyle, Merrill, Marquez, Victor E., Marra, Marco A., Gascoyne, Randy D., Humphries, R. Keith, Arrowsmith, Cheryl H., Morin, Gregg B., Aparicio, Samuel A.J.R.

“…Next-generation sequencing of follicular lymphoma and diffuse-large B-cell lymphoma has revealed frequent somatic, heterozygous Y641 mutations in the histone…”
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A second hotspot for pathogenic exon-skipping variants in CDC45 by Schoch, Kelly, Ruegg, Mischa S G, Fellows, Bridget J, Cao, Joseph, Uhrig, Sabine, Einsele-Scholz, Stephanie, Biskup, Saskia, Hawarden, Samuel R A, Salpietro, Vincenzo, Capra, Valeria, Brown, Chris M, Accogli, Andrea, Shashi, Vandana, Bicknell, Louise S

“…Biallelic pathogenic variants in CDC45 are associated with Meier-Gorlin syndrome with craniosynostosis (MGORS type 7), which also includes short stature and…”
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DNA methylation landscapes of 1538 breast cancers reveal a replication-linked clock, epigenomic instability and cis-regulation by Batra, Rajbir Nath, Lifshitz, Aviezer, Vidakovic, Ana Tufegdzic, Chin, Suet-Feung, Sati-Batra, Ankita, Sammut, Stephen-John, Provenzano, Elena, Ali, H. Raza, Dariush, Ali, Bruna, Alejandra, Murphy, Leigh, Purushotham, Arnie, Ellis, Ian, Green, Andrew, Garrett-Bakelman, Francine E., Mason, Chris, Melnick, Ari, Aparicio, Samuel A. J. R., Rueda, Oscar M., Tanay, Amos, Caldas, Carlos

“…DNA methylation is aberrant in cancer, but the dynamics, regulatory role and clinical implications of such epigenetic changes are still poorly understood…”
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Spontaneous mutation reveals influence of exopolysaccharide on Lactobacillus johnsonii surface characteristics by Horn, Nikki, Wegmann, Udo, Dertli, Enes, Mulholland, Francis, Collins, Samuel R A, Waldron, Keith W, Bongaerts, Roy J, Mayer, Melinda J, Narbad, Arjan

“…As a competitive exclusion agent, Lactobacillus johnsonii FI9785 has been shown to prevent the colonization of selected pathogenic bacteria from the chicken…”
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Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome by Fiksinski, Ania M., Schneider, Maude, Zinkstok, Janneke, Baribeau, Danielle, Chawner, Samuel J. R. A., Vorstman, Jacob A. S.

“…Purpose of Review The 22q11.2 deletion syndrome (22q11DS) is associated with a broad spectrum of neurodevelopmental phenotypes and is the strongest known…”
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High concentrations of cellulosic ethanol achieved by fed batch semi simultaneous saccharification and fermentation of waste-paper by Elliston, Adam, Collins, Samuel R.A., Wilson, David R., Roberts, Ian N., Waldron, Keith W.

“…► Batch addition of paper waste in SSSF results in up to 11.6% (v/v) ethanol. ► Low overall enzyme loadings (3.7FPU/g substrate). ► High cumulative substrate…”
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Analysis and phylogenetic comparisons of full-length VP2 genes of the 24 bluetongue virus serotypes by Maan, S, Maan, N.S, Samuel, A.R, Rao, S, Attoui, H, Mertens, P.P.C

“…The outer capsid protein VP2 of Bluetongue virus (BTV) is a target for the protective immune response generated by the mammalian host. VP2 contains the…”
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Characterization of cell wall components of wheat straw following hydrothermal pretreatment and fractionation by Merali, Zara, Ho, Justin D., Collins, Samuel R.A., Gall, Gwénaëlle Le, Elliston, Adam, Käsper, Andres, Waldron, Keith W.

“…► Evaluated effects of hydrothermal pretreatments on straw polysaccharides. ► Pretreatments solubilise/degrade arabinoxylans and cross-linking diferulates. ►…”
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Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs) by Hall, Jessica H., Chawner, Samuel J. R. A., Wolstencroft, Jeanne, Skuse, David, Hall, Jeremy, Holmans, Peter, Owen, Michael J., van den Bree, Marianne B. M.

“…A range of rare mutations involving micro-deletion or -duplication of genetic material (copy number variants (CNVs)) have been associated with high…”
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Impact of Hot Water and Alkaline Pre-treatments in Cellulosic Ethanol Production from Banana Pseudostem by Ferreira da Silva, Isadora, Reis Fontinelle Souto, Luciana, Collins, Samuel R. A., Elliston, Adam, de Queiroz, José Humberto, Waldron, Keith W.

“…For every 1 tonne of bananas produced, 3 tonnes of pseudostem waste is also created. The aim of this research is to improve the pre-treatment methods used in…”
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Foot-and-mouth disease type O viruses exhibit genetically and geographically distinct evolutionary lineages (topotypes) by Samuel, A.R, Knowles, N.J

“…Serotype O is the most prevalent of the seven serotypes of foot-and-mouth disease (FMD) virus and occurs in many parts of the world. The UPGMA method was used…”
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The orphan adhesion-GPCR GPR126 is required for embryonic development in the mouse by Waller-Evans, Helen, Prömel, Simone, Langenhan, Tobias, Dixon, John, Zahn, Dirk, Colledge, William H, Doran, Joanne, Carlton, Mark B L, Davies, Ben, Aparicio, Samuel A J R, Grosse, Johannes, Russ, Andreas P

“…Adhesion-GPCRs provide essential cell-cell and cell-matrix interactions in development, and have been implicated in inherited human diseases like Usher…”
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Sleep disturbance as a transdiagnostic marker of psychiatric risk in children with neurodevelopmental risk genetic conditions by Chawner, Samuel J. R. A., Evans, Alexandra, Williams, Nigel, Owen, Michael J., Hall, Jeremy, van den Bree, Marianne B. M.

“…Children with rare neurodevelopmental genetic conditions (ND-GCs) are at high risk for a range of neuropsychiatric conditions. Sleep symptomatology may…”
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Molecular epidemiology of foot-and-mouth disease virus by Knowles, N.J, Samuel, A.R

“…Foot-and-mouth disease (FMD) is the most economically important veterinary pathogen due to its highly infectious nature, ability to cause persistent infections…”
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Multi-Omic Analysis of CIC's Functional Networks Reveals Novel Interaction Partners and a Potential Role in Mitotic Fidelity by Takemon, Yuka, LeBlanc, Véronique G, Song, Jungeun, Chan, Susanna Y, Lee, Stephen Dongsoo, Trinh, Diane L, Ahmad, Shiekh Tanveer, Brothers, William R, Corbett, Richard D, Gagliardi, Alessia, Moradian, Annie, Cairncross, J Gregory, Yip, Stephen, Aparicio, Samuel A J R, Chan, Jennifer A, Hughes, Christopher S, Morin, Gregg B, Gorski, Sharon M, Chittaranjan, Suganthi, Marra, Marco A

“…encodes a transcriptional repressor and MAPK signalling effector that is inactivated by loss-of-function mutations in several cancer types, consistent with a…”
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Biorefining of Waste Paper Biomass: Increasing the Concentration of Glucose by Optimising Enzymatic Hydrolysis by Elliston, Adam, Collins, Samuel R. A, Faulds, Craig B, Roberts, Ian N, Waldron, Keith W

“…Waste copier paper is a potential substrate for the production of glucose relevant for manufacture of platform chemicals and intermediates, being composed of…”
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The psychiatric phenotypes of 1q21 distal deletion and duplication by Linden, Stefanie C., Watson, Cameron J., Smith, Jacqueline, Chawner, Samuel J. R. A., Lancaster, Thomas M., Evans, Ffion, Williams, Nigel, Skuse, David, Raymond, F. Lucy, Hall, Jeremy, Owen, Michael J., Linden, David E. J., Green-Snyder, LeeAnne, Chung, Wendy K., Maillard, Anne M., Jacquemont, Sébastien, van den Bree, Marianne B. M.

“…Copy number variants are amongst the most highly penetrant risk factors for psychopathology and neurodevelopmental deficits, but little information about the…”
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Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD by Drakulic, Danijela, Djurovic, Srdjan, Syed, Yasir Ahmed, Trattaro, Sebastiano, Caporale, Nicolò, Falk, Anna, Ofir, Rivka, Heine, Vivi M, Chawner, Samuel J R A, Rodriguez-Moreno, Antonio, van den Bree, Marianne B M, Testa, Giuseppe, Petrakis, Spyros, Harwood, Adrian J

“…Patients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the…”
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Comparative Dynamics, Morbidity and Mortality Burden of Pediatric Viral Respiratory Infections in an Equatorial City by Alonso, Wladimir J, Laranjeira, Bruno J, Pereira, Samuel A R, Florencio, Caroline M. G D, Moreno, Eduardo C, Miller, Mark A, Giglio, Ricardo, Schuck-Paim, Cynthia, Moura, Fernanda E A

“…BACKGROUND:Although acute respiratory infections (ARIs) are the global leading cause of pediatric morbidity and mortality, the relative impact of viral…”
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Design of primers and use of RT-PCR assays for typing European bluetongue virus isolates: differentiation of field and vaccine strains by Mertens, P.P.C, Maan, N.S, Prasad, G, Samuel, A.R, Shaw, A.E, Potgieter, A.C, Anthony, S.J, Maan, S

“…Bluetongue virus (BTV) is the causative agent of bluetongue, a disease of ruminant livestock that occurs almost worldwide between latitudes 3 ° S and 5 ° N…”
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