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Relevant bibliographies by topics / Alternative last exon (ALE)

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Journal articles

Academic literature on the topic 'Alternative last exon (ALE)'

Author: Grafiati

Published: 19 April 2025

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Journal articles on the topic "Alternative last exon (ALE)"

1

Lee, Seungjae, Lu Wei, Binglong Zhang, et al. "ELAV/Hu RNA binding proteins determine multiple programs of neural alternative splicing." PLOS Genetics 17, no. 4 (2021): e1009439. http://dx.doi.org/10.1371/journal.pgen.1009439.

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ELAV/Hu factors are conserved RNA binding proteins (RBPs) that play diverse roles in mRNA processing and regulation. The founding member,DrosophilaElav, was recognized as a vital neural factor 35 years ago. Nevertheless, little was known about its impacts on the transcriptome, and potential functional overlap with its paralogs. Building on our recent findings that neural-specific lengthened 3’ UTR isoforms are co-determined by ELAV/Hu factors, we address their impacts on splicing. While only a few splicing targets ofDrosophilaare known, ectopic expression of each of the three family members (E

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2

Mohamed, Aminetou Mint, Morgan Thenoz, Catherine Koering, et al. "DEK and WT1 Affect Alternative Splicing of Genes Involved in Hematopoietic Cell Lineage and Resistance to Chemotherapy in Acute Myeloid Leukemia Cells." Blood 120, no. 21 (2012): 2392. http://dx.doi.org/10.1182/blood.v120.21.2392.2392.

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Abstract Abstract 2392 In humans, the majority of all protein-coding transcripts contain introns that are removed by mRNA splicing carried out by spliceosomes. Mutations in the spliceosome machinery have recently been identified using whole-exome/genome technologies in myelodysplastic syndromes (MDS) and in acute myeloid leukemia (AML). In MDS the frequency of somatic spliceosomal mutations (SSM) range from 1–3% for U2AF1 in RARS/RCMD-RS to more than 70% for SF3B1 in ARSI. These values are significantly lower in AML whereas AML cells cumulate numerous splicing defects. Beside SSMs, one can pro

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3

Levallet, J., H. Mittre, B. Delarue, and S. Carreau. "Alternative splicing events in the coding region of the cytochrome P450 aromatase gene in male rat germ cells." Journal of Molecular Endocrinology 20, no. 3 (1998): 305–12. http://dx.doi.org/10.1677/jme.0.0200305.

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Expression of cytochrome P450 mRNA in rat germ cells was characterized by reverse transcription PCR with various primers located at the 3'-end of the coding region. At least two unusual isoforms (Ex10-S and INT) of P450 aromatase (P450arom) mRNA were expressed. Analysis of their sequences demonstrated that an alternative splicing event occurred first at the exon-intron boundary of the GT consensus sequence of the last coding exon, and second in the internal 5' donor inside exon 9 used as a minor cryptic splicing site. These isoforms lacked the last coding exon which contained the heme-binding

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4

Hu, Zhigang, Junting Cao, Liyan Ge, Jianqin Zhang, Huilin Zhang, and Xiaolin Liu. "Characterization and Comparative Transcriptomic Analysis of Skeletal Muscle in Pekin Duck at Different Growth Stages Using RNA-Seq." Animals 11, no. 3 (2021): 834. http://dx.doi.org/10.3390/ani11030834.

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Skeletal muscle, accounting for approximately 50% of body weight, is the largest and most important tissue. In this study, the gene expression profiles and pathways in skeletal muscle of Pekin duck were investigated and compared at embryonic day 17, 21, and 27 and postnatally at 6 months of age. An average of 49,555,936 reads in each sample was obtained from the transcriptome libraries. Over 70.0% of alternative splicing (AS) in each sample was mainly alternative 5′ first exon (transcription start site)—the first exon splicing (TSS) and alternative 3′ last exon (transcription terminal site)—th

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5

Vreken, Peter, René W. L. M. Niessen, Marjolein Peters, Marianne C. L. Schaap, Johanna G. M. Zuithoff-Rijntjes, and Augueste Sturk. "A Point Mutation in an Invariant Splice Acceptor Site Results in a Decreased mRNA Level in a Patient with Severe Coagulation Factor XIII Subunit A Deficiency." Thrombosis and Haemostasis 74, no. 02 (1995): 584–89. http://dx.doi.org/10.1055/s-0038-1649779.

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SummaryAmplification and sequencing of exons I-XV of the gene encoding subunit A of coagulation factor XIII (FXIII) in a patient with severe subunit A deficiency revealed a single G → A base substitution at the last position of intron E, mutating the invariant AG dinucleotide splice acceptor site to AA. Northern blot analysis of FXIII subunit A mRNA levels in peripheral mononuclear leukocytes showed that this mutation leads to an undetectable FXIII subunit A mRNA level, suggesting that the mutant transcript is either highly unstable or only spliced at low efficiency. Despite this low mRNA leve

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6

Bernasconi, Paolo, Barbara Rocca, Celeste Calvello, et al. "Alternative Splicing of hTERT Exon 7 in AML: Biological Fuction and Prognostic Significance." Blood 124, no. 21 (2014): 1019. http://dx.doi.org/10.1182/blood.v124.21.1019.1019.

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Abstract hTERT, a telomere specific reverse transcriptase with a crucial role in telomerase activity, prevents telomeres shortening, a pro-apototic cellular event which occurs at every round of DNA replication. Its regulation is complex as alternative spliced variants which generate the full-length hTERT transcript (+α+β) and transcripts carrying α and/or β deletions (transdominant negative isoform -α+β, inactive products +α-β and -α-β) have been reported. In AML the prognostic significance of hTERT expression is still debated, even if its over-expression has been correlated with a poor clinic

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7

Arnaud, Pauline, Margaux Cadenet, Zakaria Mougin, et al. "Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts." Human Mutation 2023 (August 14, 2023): 1–7. http://dx.doi.org/10.1155/2023/1410230.

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Rare pathogenic variants in the MYH11 gene are responsible for thoracic aortic aneurysms and dissections. They are usually heterozygous missense variants or in-frame deletions of several amino acids without alteration of the reading frame and mainly affect the coiled-coil domain of the protein. Variants leading to a premature stop codon have been described in patients with another phenotype, megacystis-microcolon-intestinal hypoperistalsis syndrome, with an autosomal recessive inheritance. The physiopathological mechanisms arising from the different genetic alterations affecting the MYH11 gene

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8

Duarte, Adriana S. S., Manoela M. Ortega, Fernando F. Costa, Carmen S. P. Lima, and Sara T. O. Saad. "PP2500 mRNA, a Splice Variant of the Multiple Ankirin Repeat Single KH Domain (Mask), Is Highly Expressed in Plasma Cells of Multiple Myeloma." Blood 106, no. 11 (2005): 5090. http://dx.doi.org/10.1182/blood.v106.11.5090.5090.

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Abstract The Ankyrin (ANK)-repeat is one of the most common protein sequence motifs, which leads itself to variation in overall domain size by simple sequence duplication or deletion. The Mask (Multiple Ankyrin Repeats Single KH domain) gene, which codifies an ANK-repeat protein, is located in chromosome 5(q31.3) and it is composed of 39 exons. It generates isoforms by alternative 3′splicing. The first splice variant (hMask) lacks the 10A exon of the Mask gene, generating a mRNA containing 34 exons. The other, Mask-BP3ARF, results from fusion of splice variant hMask, with the two last exons of

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9

Falkenhorst, Johanna, Rainer Hamacher, Peter Reichardt, et al. "Lower-dosing ponatinib in pre-treated GIST: Results of the POETIG phase II trial." Journal of Clinical Oncology 38, no. 15_suppl (2020): 11536. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.11536.

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11536 Background: Despite long-lasting responses to imatinib most metastatic gastrointestinal stromal tumors (GIST) eventually progress and subsequent treatments are associated with limited duration of disease control. Ponatinib is a potent KIT inhibitor with a strong activity against secondary mutations in exon 17, including the highly resistant D816 mutations of KIT. Based on the dose-depending toxicity profile we sought to evaluate the safety and activity of lower dosing (30mg) ponatinib in pretreated patients with KIT-mutant GIST. We here report safety data for the whole cohort and first e

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10

Hanke, P. D., and R. V. Storti. "The Drosophila melanogaster tropomyosin II gene produces multiple proteins by use of alternative tissue-specific promoters and alternative splicing." Molecular and Cellular Biology 8, no. 9 (1988): 3591–602. http://dx.doi.org/10.1128/mcb.8.9.3591-3602.1988.

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The structure of the Drosophila melanogaster tropomyosin II (TmII) gene has been determined by DNA sequencing of cDNA clones and the genomic DNA coding for the gene. Two overlapping transcriptional units produce at least four different tropomyosin isoforms. A combination of developmentally regulated promoters and alternative splicing produces both muscle and cytoskeletal tropomyosin isoforms. One promoter is a muscle-specific promoter and produces three different tropomyosin isoforms by alternative splicing of the last three 3' exons. The second promoter has the characteristics of a housekeepi

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