Results 11 to 20 of about 396,812 (264)

Computational prediction of splicing regulatory elements shared by Tetrapoda organisms [PDF]

, 2009
Background: auxiliary splicing sequences play an important role in ensuring accurate and efficient splicing by promoting or repressing recognition of authentic splice sites.
Churbanov, Alexander, Hicks, Chindo, Churbanov Alexander, Vořechovský, Igor, Chindo Hicks, Vořechovský Igor, Hicks Chindo, Igor Vořechovský, Alexander Churbanov   +8 more
core   +1 more source

Quantification of pre-mRNA escape rate and synergy in splicing [PDF]

, 2014
Splicing reactions generally combine high speed with accuracy. However, some of the pre-mRNAs escape the nucleus with a retained intron. Intron retention can control gene expression and increase proteome diversity.
Becskei, Attila, Bonde, M. (M) M. (M), Becskei, A. (A), Baudrimont, A. (A), Séraphin, B. (Bertrand), Mi Bonde, Marie, Voegeli, Sylvia, Bonde, Marie Mi, Baudrimont, Antoine, Voegeli, S. (S), Séraphin, Bertrand, Voegeli, S, Baudrimont, A, Becskei, A   +13 more
core   +1 more source

Perturbation of chromatin structure globally affects localization and recruitment of splicing factors [PDF]

, 2012
Chromatin structure is an important factor in the functional coupling between transcription and mRNA processing, not only by regulating alternative splicing events, but also by contributing to exon recognition during constitutive splicing.
Risso, Guillermo, J, Risso Guillermo J., Lleres, D, Jernej Ule, Ignacio E. Schor (120406), Llères, David, Llères David, Pawellek, A., Ule, J., Kornblihtt Alberto R., Schor, Ignacio, E, Risso, GJ, Ule, Jernej, Lamond, Angus I.; id_orcid, Lamond, A.I., Alberto R. Kornblihtt (120413), Lamond, Angus, I, Kornblihtt, Alberto, R, Pawellek, Andrea, Andrea Pawellek, Alberto R Kornblihtt, David Llères (68840), Guillermo J. Risso (120408), Andrea Pawellek (120410), Risso, Guillermo J., Schor*, I.E., Schor, I.E., Lamond Angus I., Schor, Ignacio E., Ule, J, Ule Jernej, Risso, G.J., David Llères, Kornblihtt, A.R., Ignacio E Schor, Pawellek Andrea, Lleres*, D., Lamond, AI, Guillermo J Risso, Angus I Lamond, Kornblihtt, Alberto R., Llères, D., Schor Ignacio E., Pawellek, A, Schor, IE, Angus I. Lamond (13065), Kornblihtt, AR, Jernej Ule (115588)   +47 more
core   +1 more source

Multiple tandem splicing silencer elements suppress aberrant splicing within the long exon 26 of the human Apolipoprotein B gene. [PDF]

, 2013
: BACKGROUND: Apolipoprotein B (APOB) is an integral component of the chylomicron and the atherogenic lipoproteins LDL and Lp(a). Exon 26 of the APOB pre-mRNA is unusually long at 7,572 nt and is constitutively spliced.
Srirangalingam, U, Navaratnam, N, Chew, SL, Norman, D, Khoo, B, Akker, SA   +5 more
core   +1 more source

Tetracycline aptamer-controlled regulation of pre-mRNA splicing in yeast [PDF]

, 2007
Splicing of pre-mRNA is a critical step in mRNA maturation and disturbances cause several genetic disorders. We apply the synthetic tetracycline (tc)-binding riboswitch to establish a gene expression system for conditional tc-dependent control of pre ...
Weigand, Julia E., Suess, Beatrix, Weigand, Julia, Süß, Beatrix   +3 more
core   +1 more source

Promoter-Bound Full-Length Intronic Circular RNAs-RNA Polymerase II Complexes Regulate Gene Expression in the Human Parasite Entamoeba histolytica

Non-Coding RNA, 2022
Ubiquitous eukaryotic non-coding circular RNAs are involved in numerous co- and post-transcriptional regulatory mechanisms. Recently, we reported full-length intronic circular RNAs (flicRNAs) in Entamoeba histolytica, with 3′ss–5′ss ligation points and 5′
Jesús Alberto García-Lerena, Gretter González-Blanco, Odila Saucedo-Cárdenas, Jesús Valdés   +3 more
doaj   +1 more source

The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review

Children, 2023
Diamond–Blackfan anemia (DBA) is a ribosomopathy characterized by bone marrow erythroid hypoplasia, which typically presents with severe anemia within the first months of life. DBA is typically attributed to a heterozygous mutation in a ribosomal protein
Iordanis Pelagiadis, Ioannis Kyriakidis, Nikolaos Katzilakis, Chrysoula Kosmeri, Danai Veltra, Christalena Sofocleous, Stavros Glentis, Antonis Kattamis, Alexandros Makis, Eftichia Stiakaki   +9 more
doaj   +1 more source

A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing [PDF]

, 2014
Background: Substantial progress has been made in the identification of sequence elements that control mRNA splicing and the genetic variants in these elements that alter mRNA splicing (referred to as splicing quantitative trait loci – sQTLs).
Ramesar, Raj, Lisa Roberts, Korir, Paul K, Cathal Seoighe, Raj Ramesar, Seoighe, Cathal, Paul K Korir, Roberts, Lisa   +7 more
core   +1 more source

A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease

Molecular Genetics & Genomic Medicine, 2020
Background Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain.
France Woimant, Aurelia Poujois, Adrien Bloch, Tabaras Jordi, Jean‐Louis Laplanche, Hélène Morel, Corinne Collet   +6 more
doaj   +1 more source

New Approach for Detection of Normal Alternative Splicing Events and Aberrant Spliceogenic Transcripts with Long-Range PCR and Deep RNA Sequencing

Biology, 2021
RNA sequencing is a promising technique for detecting normal and aberrant RNA isoforms. Here, we present a new single-gene, straightforward 1-day hands-on protocol for detection of splicing alterations with deep RNA sequencing from blood.
Vita Šetrajčič Dragoš, Vida Stegel, Ana Blatnik, Gašper Klančar, Mateja Krajc, Srdjan Novaković   +5 more
doaj   +1 more source