Results 101 to 110 of about 211,616 (238)

Identified five variants in CFTR gene that alter RNA splicing by minigene assay

open access: yesFrontiers in Genetics
BackgroundCystic fibrosis (CF) is a common monogenic multisystem disease caused primarily by variants in the CFTR gene. Emerging evidence suggests that some variants, which are described as missense, synonymous or nonsense variants in the literature or ...
Bingying Zhang   +9 more
doaj   +1 more source

Supplementary Table 1 from The Proto-oncogene PKCι Regulates the Alternative Splicing of Bcl-x Pre-mRNA

open access: gold, 2023
Jacqueline C. Shultz   +5 more
openalex   +1 more source

AtUBL5 regulates growth and development through pre-mRNA splicing in Arabidopsis thaliana.

open access: yesPLoS ONE, 2019
Ubiquitin-like proteins play important roles in the regulation of many biological processes. UBL5 (Ubiquitin-like protein 5)/Hub1 (Homologous to ubiquitin 1), a member of the ubiquitin family, acts as a ubiquitin-like modifier on a specific target, the ...
Etsuko Watanabe   +3 more
doaj   +1 more source

Algorithms for simulating human pre-mRNA splicing decisions [PDF]

open access: yes, 2005
Thesis (M. Eng.)--Massachusetts Institute of Technology, Dept. of Electrical Engineering and Computer Science, 2005.Includes bibliographical references (leaves 37-38).In this thesis, I developed a program, ExonScan, to simulate constitutive human pre ...
Rolish, Michael E. (Michael Edward)
core  

The deleterious effect of missense mutations on pre-mRNA splicing [PDF]

open access: yes, 2011
The presence of missense mutations detected during genetic testing makes it difficult to classify their pathogenic effect. It is possible that the predicted amino acid change affects protein function; however, it is also possible that a missense mutation
Gonçalves, Vânia, Jordan, Peter
core  

Expression of the Thyroid Hormone Receptor Gene, erbAα, in B Lymphocytes: Alternative mRNA Processing is Independent of Differentiation but Correlates with Antisense RNA Levels [PDF]

open access: yes, 1997
The erbAα gene encodes two α-thyroid hormone receptor isoforms, TRα1 and TRα2, which arise from alternatively processed mRNAs, erbAα1 (α1) and erb α2 (α2).
Hastings, Michelle Laura   +4 more
core   +1 more source

MTR4 drives liver tumorigenesis by promoting cancer metabolic switch through alternative splicing. [PDF]

open access: yes, 2020
The metabolic switch from oxidative phosphorylation to glycolysis is required for tumorigenesis in order to provide cancer cells with energy and substrates of biosynthesis.
Chen, Wancheng   +16 more
core   +1 more source

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