Results 21 to 30 of about 603,390 (338)

Apparent non-canonical trans-splicing is generated by reverse transcriptase in vitro [PDF]

, 2010
Trans-splicing, the in vivo joining of two RNA molecules, is well characterized in several groups of simple organisms but was long thought absent from fungi, plants and mammals.
David Tollervey, DS Rickman, E Gilboa, ES Svarovskaia, F Perocchi, GX Luo, H Li, HM Temin, J Cocquet, J Houseley, J Sambrook, Jonathan Houseley, KEM Hastings, M Geiszt, M Ouhammouch, P Kapranov, P Unneberg, RH Herai, RM Mader, S Zhu, SW Roy, T Horiuchi, Thomas Preiss, TR Gingeras, X Li, X Niu, XC Zeng   +26 more
core   +4 more sources

Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene [PDF]

, 2009
Cystic fibrosis (CF) is a common recessive disorder caused by >1600 mutations in the CF transmembrane conductance regulator (CFTR) gene. About 13% of CFTR mutations are classified as “splicing mutations,” but for almost 40% of these, their role in ...
BAFFICO AM, CAO A, CORDA D, FAA' V, INCANI, FEDERICA, MASALA, MADDALENA, MELONI A, ROSATELLI, MARIA CRISTINA, SEIA M   +8 more
core   +1 more source

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome

Frontiers in Genetics, 2018
Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult.
Olatz Villate, Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A. Velasco, Detelina Grozeva, F. L. Raymond, María P. Botella, María-Isabel Tejada, María-Isabel Tejada, María-Isabel Tejada   +11 more
doaj   +1 more source

SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]

, 2015
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili, Antonio Musarò, Arnold, Biamonte, Bianchi, Bielli, Bielli, Bose, Branchu, Bricceno, Burnett, Bäumer, Cai, Chen, Cho, Claudio Sette, Ehrmann, Feng, Fu, Galarneau, Hofmann, Hofmann, Hua, Huot, Iascone, Iijima, Kashima, Kashima, Laura Pelosi, Le, Li, Ling, Lorson, Lukong, Mammucari, Marcello D’Amelio, Maria Blaire Bustamante, Maria Grazia Berardinelli, Mende, Nurputra, Paronetto, Paronetto, Pedrotti, Pedrotti, Richard, Ruggiu, Shababi, Singh, Vittoria Pagliarini, Wahl, West, Zhang   +51 more
core   +2 more sources

Splicing matroids

European Journal of Combinatorics, 2011
We introduce and study a natural variant of matroid amalgams. For matroids M(A) and N(B) such that M/(A-B)=N(B-A), we define a splice of M and N to be a matroid L on the union of A and B with L(B-A)=M and L/(A-B)=N. We show that splices exist for each such pair of matroids M and N; furthermore, there is a freest splice of M and N, which we call the ...
Joseph E. Bonin, William Schmitt
openaire   +3 more sources

Inflammation drives alternative first exon usage to regulate immune genes including a novel iron-regulated isoform of Aim2

eLife, 2021
Determining the layers of gene regulation within the innate immune response is critical to our understanding of the cellular responses to infection and dysregulation in disease.
Elektra K Robinson, Pratibha Jagannatha, Sergio Covarrubias, Matthew Cattle, Valeriya Smaliy, Rojin Safavi, Barbara Shapleigh, Robin Abu-Shumays, Miten Jain, Suzanne M Cloonan, Mark Akeson, Angela N Brooks, Susan Carpenter   +12 more
doaj   +1 more source

Prescribing splicing [PDF]

Science, 2015
A model predicts the impact of variations in the human genome on RNA splicing and disease [Also see Research Article by Xiong et al. ]
Guigó Serra, Roderic, Valcárcel, J. (Juan)   +1 more
openaire   +4 more sources

Vaccine-induced COVID-19 mimicry syndrome

eLife, 2022
To fight the COVID-19 pandemic caused by the RNA virus SARS-CoV-2, a global vaccination campaign is in progress to achieve the immunization of billions of people mainly with adenoviral vector- or mRNA-based vaccines, all of which encode the SARS-CoV-2 ...
Eric Kowarz, Lea Krutzke, Marius Külp, Patrick Streb, Patrizia Larghero, Jennifer Reis, Silvia Bracharz, Tatjana Engler, Stefan Kochanek, Rolf Marschalek   +9 more
doaj   +1 more source

A bioinformatic analysis identifies circadian expression of splicing factors and time-dependent alternative splicing events in the HD-MY-Z cell line [PDF]

, 2019
The circadian clock regulates key cellular processes and its dysregulation is associated to several pathologies including cancer. Although the transcriptional regulation of gene expression by the clock machinery is well described, the role of the clock ...
Abreu, Mónica, Astaburuaga, Rosario, Basti, Alireza, Genov, Nikolai, Relógio, Angela   +4 more
core   +1 more source

Computing by splicing

Theoretical Computer Science, 1996
zbMATH Open Web Interface contents unavailable due to conflicting licenses.
Arto Salomaa, Grzegorz Rozenberg, Grzegorz Rozenberg, Gheorghe Paun   +3 more
openaire   +2 more sources