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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Hits 1 – 5 of 5 1 Improving Access to Health Services in French: The Power of Networking and Knowledge Mobilization, a Proven Canadian Model Tremblay, Michel; Leis, Anne. - : Institut canadien de recherche sur les minorités linguistiques / Canadian Institute for Research on Linguistic Minorities, 2021. : Érudit, 2021 BASE Show details 2 A recurrent de novo missense mutation in UBTF causes developmental neuroregression Toro, Camilo; Hori, Roderick T; Malicdan, May Christine V; Tifft, Cynthia J; Goldstein, Amy; Gahl, William A; Adams, David R; Fauni, Harper B; Wolfe, Lynne A; Xiao, Jianfeng; Khan, Mohammad M; Tian, Jun; Hope, Kevin A; Reiter, Lawrence T; Tremblay, Michel G; Moss, Tom; Franks, Alexis L; Balak, Chris; LeDoux, Mark S. - : Oxford University Press, 2018 Abstract: UBTF (upstream binding transcription factor) exists as two isoforms; UBTF1 regulates rRNA transcription by RNA polymerase 1, whereas UBTF2 regulates mRNA transcription by RNA polymerase 2. Herein, we describe 4 patients with very similar patterns of neuroregression due to recurrent de novo mutations in UBTF (GRCh37/hg19, NC_000017.10: g.42290219C > T, NM_014233.3: c.628G > A) resulting in the same amino acid change in both UBTF1 and UBTF2 (p.Glu210Lys [p.E210K]). Disease onset in our cohort was at 2.5 to 3 years and characterized by slow progression of global motor, cognitive and behavioral dysfunction. Notable early features included hypotonia with a floppy gait, high-pitched dysarthria and hyperactivity. Later features included aphasia, dystonia, and spasticity. Speech and ambulatory ability were lost by the early teens. Magnetic resonance imaging showed progressive generalized cerebral atrophy (supratentorial > infratentorial) with involvement of both gray and white matter. Patient fibroblasts showed normal levels of UBTF transcripts, increased expression of pre-rRNA and 18S rRNA, nucleolar abnormalities, markedly increased numbers of DNA breaks, defective cell-cycle progression, and apoptosis. Expression of mutant human UBTF1 in Drosophila neurons was lethal. Although no loss-of-function variants are reported in the Exome Aggregation Consortium (ExAC) database and Ubtf−/− is early embryonic lethal in mice, Ubtf+/− mice displayed only mild motor and behavioral dysfunction in adulthood. Our data underscore the importance of including UBTF E210K in the differential diagnosis of neuroregression and suggest that mainly gain-of-function mechanisms contribute to the pathogenesis of the UBTF E210K neuroregression syndrome. Keyword: Articles URL: https://doi.org/10.1093/hmg/ddx435 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886272/ http://www.ncbi.nlm.nih.gov/pubmed/29300972 BASE Hide details 3 Antitumor Activity and Mechanism of Action of the Cyclopenta[b]benzofuran, Silvestrol Cencic, Regina; Carrier, Marilyn; Galicia-Vázquez, Gabriela. - : Public Library of Science, 2009 BASE Show details 4 The impact of attending to unstressed words on the acquisition of written grammatical morphology by French-speaking ESL students Morris, Lori; Tremblay, Michel In: Canadian modern language review. - Toronto : Ontario Modern Language Teachers Association 58 (2002) 3, 364-385 BLLDB Show details 5 The Impact of Attending to Unstressed Words on the Acquisition of Written Grammatical Morphology by French-Speaking ESL Students Morris, Lori; Tremblay, Michel In: Canadian modern language review. - Toronto : Ontario Modern Language Teachers Association 58 (2002) 3, 364-385 OLC Linguistik Show details

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