Results 231 to 240 of about 161,850 (258)

Characterization of a splicing mutation in the factor VIII gene at the RNA level

Human Genetics, 1995
Haemophilia A is an X-linked bleeding disorder caused by mutations in the coagulation factor VIII (FVIII) gene. The identification and characterization of naturally occurring disease-producing mutations allows the recognition of new mechanisms of pathogenesis in haemophilia A. Analysis of the illegitimately transcribed FVIII mRNA in a severely affected
D, David, A, Tavares, J, Lavinha
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Alternatively spliced isoforms of a novel stromal RNA regulating factor

Gene, 2004
Bone marrow stromal cells (MSC) are pluripotent cells that possess a unique capacity to differentiate under appropriate conditions into various lineages. The MSC differentiation is dependent on factors that can switch on and maintain a relevant genetic program to make a particular cell type.
I, Shur, D, Ben-Avraham, D, Benayahu
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Non-Canonical Functions of Splicing Factors in RNA Metabolism

Critical Reviews in Plant Sciences, 2020
Noncoding RNA (ncRNA), such as microRNA (miRNAs), long ncRNAs (lncRNAs), and circular RNAs (circRNAs) play roles in plant growth, development, and response to environmental cues via diverse manners...
Xiao Han, Yi Lin, Xin-Qi Gao, Xiu-Ling Wang   +3 more
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Identification of a family of DNA-binding proteins with homology to RNA splicing factors

Biochemistry and Cell Biology, 2006
We describe a unique family of human proteins that are capable of binding to the cAMP regulatory element (CRE) and that are homologous to RNA splicing proteins. A human cDNA was isolated that encodes a protein with a distinctive combination of modular domain structures: 2 leucine-zipper-like domains, a DNA-binding zinc-finger-like domain, an RNA ...
Kristy L, Shipman, Phillip J, Robinson, Bruce R, King, Roger, Smith, Richard C, Nicholson   +4 more
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Design of RNA-Binding Proteins: Manipulate Alternative Splicing in Human Cells with Artificial Splicing Factors

2016
The majority of human genes undergo alternative splicing to produce multiple isoforms with distinct functions. The dysregulations of alternative splicing have been found to be closely associated with various human diseases; thus new approaches to modulate disease-associated splicing events will provide great therapeutic potentials.
Yang, Wang, Zefeng, Wang
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The role of RNA splicing factors in the regulation of longevity

2021
Geroscience aims to target the aging process to extend healthspan. However, the efficacy of pro- longevity interventions is highly heterogeneous, limiting their translational potential. In my dissertation research, I discovered that activity of RNA splicing factors REPO-1 and SFA-1 early in life, modulates effectiveness of known longevity interventions
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SCNM1, a Putative RNA Splicing Factor That Modifies Disease Severity in Mice

Science, 2003
The severity of many inherited disorders is influenced by genetic background. We describe a modifier interaction in C57BL/6Jmice that converts a chronic movement disorder into a lethal neurological disease. The primary mutation (med J ) changes a splice donor site of the sodium channel gene
David A, Buchner, Michelle, Trudeau, Miriam H, Meisler   +2 more
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Cell-type-specific splicing factors and the regulation of alternative RNA splicing.

The New biologist, 1991
A very wide variety of biological processes are regulated by alternative splicing. By this means, a gene can be transcribed in several different tissues but in each tissue the RNA transcript is spliced in a particular way to produce a different mRNA and hence a different protein.
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The conserved role of RNA splicing factors in genome maintenance

2020
RNA splicing mutants have been broadly implicated in genome stability, but mechanistic links are often unclear. Two predominant models have emerged: one involving changes in gene expression that perturb other genome maintenance factors and another in which genotoxic DNA:RNA hybrids, called R-loops, impair DNA replication. Recent efforts in whole genome
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A dual DNA/RNA-binding factor regulates co-transcriptional splicing through target RNA interaction and modulates splicing factor dynamics

Summary How RNA splicing events are targeted to the correct genomic locations in specific cellular contexts to generate context-specific transcript diversity and prevent deleterious cryptic splicing remains very poorly understood.
Mukulika Ray, Julia Zaborowsky, Pranav Mahableshwarkar, Smriti Vaidyanathan, Jasmine Shum, Annie Huang, Renjith Viswanathan, Isabelle Pilo, Victoria Chen, Kaitlyn Cortez, Ashley M. Conard, Szu-Huan Wang, Victoria Johnson, Noah Wake, Alexander E. Conicella, Ryan Puterbaugh, Nicolas L. Fawzi, Erica Larschan   +17 more
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