Results 131 to 140 of about 292,600 (397)

Introns of plant pri-miRNAs enhance miRNA biogenesis

EMBO Reports, 2013
Plant MIR genes are independent transcription units that encode long primary miRNA precursors, which usually contain introns. For two miRNA genes, MIR163 and MIR161, we show that introns are crucial for the accumulation of proper levels of mature miRNA ...
D. Bielewicz, Małgorzata Kalak, M. Kalyna, David Windels, A. Barta, Franck Vazquez, Z. Szweykowska‐Kulinska, A. Jarmolowski   +7 more
semanticscholar   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Positioning Crenarchaeal tRNA-Introns [PDF]

arXiv, 2005
We precisely position a noncanonical intron in the odd second copy of tRNAAsp(GTC) gene in the newly sequenced crenarchaea S.acidocaldarius. The uniform assortment of some features from normal aspartate tDNA and some from those corresponding to non-standard amino acids conduce us to conjecture it to be a novel tRNA gene, probably coding for a modified ...
arxiv  

Minor introns are embedded molecular switches regulated by highly unstable U6atac snRNA

eLife, 2013
Eukaryotes have two types of spliceosomes, comprised of either major (U1, U2, U4, U5, U6) or minor (U11, U12, U4atac, U6atac;
Ihab Younis, K. Dittmar, Wei Wang, Shawn W Foley, Michael G. Berg, Karen Y Hu, Zhi Wei, L. Wan, G. Dreyfuss   +8 more
semanticscholar   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Historical fragmentation and stepping‐stone gene flow led to population genetic differentiation in a coastal seabird

Ecology and Evolution
Understanding the forces that shape population genetic structure is fundamental both for understanding evolutionary trajectories and for conservation. Many factors can influence the geographic distribution of genetic variation, and the extent to which ...
Bronwyn A. S. Harkness, Gabriela Ibarguchi, Veronica F. Poland, Vicki L. Friesen   +3 more
doaj   +1 more source

Recent mobility of plastid encoded group II introns and twintrons in five strains of the unicellular red alga Porphyridium [PDF]

PeerJ, 2015
Group II introns are closely linked to eukaryote evolution because nuclear spliceosomal introns and the small RNAs associated with the spliceosome are thought to trace their ancient origins to these mobile elements.
Marie-Mathilde Perrineau, Dana C. Price, Georg Mohr, Debashish Bhattacharya   +3 more
doaj   +2 more sources

A Quantitative Approach to Investigating the Hypothesis of Prokaryotic Intron Loss [PDF]

, 2011
Using a novel method, we show that ordered triplets of motifs usually associated with spliceosomal intron recognition are underrepresented in the protein coding sequence of complete Thermotogae, archaeal and bacterial genomes.
Robert M. Sinclair
core   +1 more source

Improving the Caenorhabditis elegans Genome Annotation Using Machine Learning [PDF]

, 2007
For modern biology, precise genome annotations are of prime importance, as they allow the accurate definition of genic regions. We employ state-of-the-art machine learning methods to assay and improve the accuracy of the genome annotation of the nematode
Bernhard Schölkopf, Gunnar Rätsch, Hanh Witte, Jagan Srinivasan, Klaus-R Müller, Ralf-J Sommer, Sören Sonnenburg, The Caenorhabditis elegans sequencing consortium, Uwe Ohler   +8 more
core   +5 more sources

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source