Results 131 to 140 of about 205,219 (310)

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

Targeting m6A Reader YTHDF1 Enhances Antitumor Immunity and Potentiates Anti‐PD‐L1 Efficacy in Intrahepatic Cholangiocarcinoma

open access: yesAdvanced Science, EarlyView.
The m6A reader YTHDF1 drives intrahepatic cholangiocarcinoma (ICC) progression by remodeling the tumor immune microenvironment. YTHDF1 promotes MDSC recruitment via activation of m6A‐FOSL2‐CXCL6/CXCR2 axis, thereby suppressing CD8+ T cell infiltration and function.
Li Luo   +14 more
wiley   +1 more source

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration. [PDF]

open access: yes, 2019
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with loss of nuclear transactive response DNA-binding protein 43 (TDP-43).
Artates, Jon W   +19 more
core  

Genetic Control of Tissue Remodeling by a Non‐Coding SNP in ITGA8 Explains Carotenoid‐Based Color Polymorphism in Marine Mollusks

open access: yesAdvanced Science, EarlyView.
In this study, the orange‐muscle giant abalone (Haliotis gigantea) is used as a model to identify a non‐coding SNP that disrupts the interaction between ITGA8 pre‐mRNA and the splicing factor ILF2, leading to altered ITGA8 splicing. These splicing changes promote carotenoid accumulation in abalone muscle through the regulation of tissue remodeling ...
Xiaohui Wei   +17 more
wiley   +1 more source

Quantitative single-cell splicing analysis reveals an ‘economy of scale’ filter for gene expression [PDF]

open access: yes, 2018
In eukaryotic cells, splicing affects the fate of each pre-mRNA transcript, helping to determine whether it is ultimately processed into an mRNA, or degraded. The efficiency of splicing plays a key role in gene expression.
Ding, Fangyuan, Elowitz, Michael B.
core  

NUDT21 Drives T‐Cell Acute Lymphoblastic Leukemia Through Dual Regulation of Alternative Polyadenylation and Transcriptional Activation

open access: yesAdvanced Science, EarlyView.
In summary, our study defines a coordinated oncogenic model in which NUDT21 integrates alternative polyadenylation–dependent UBE2D3 stabilization and transcriptional activation to sustain MYC‐driven T‐ALL cell survival, thereby establishing NUDT21 as a central regulatory node and a promising therapeutic target.
Conglian Qiu   +18 more
wiley   +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  

Integrating Spatial Proteogenomics in Cancer Research

open access: yesAdvanced Science, EarlyView.
Xx xx. ABSTRACT Background: Spatial proteogenomics marks a paradigm shift in oncology by integrating molecular analysis with spatial information from both spatial proteomics and other data modalities (e.g., spatial transcriptomics), thereby unveiling tumor heterogeneity and dynamic changes in the microenvironment.
Yida Wang   +13 more
wiley   +1 more source

Glutamine Deprivation Triggers Tribbles Homolog 3 Dependent G‐Quadruplex Resolution to Maintain DNA Repair and Tumor Survival

open access: yesAdvanced Science, EarlyView.
Glutamine deprivation triggers transient DNA damage yet activates adaptive repair in hepatocellular carcinoma cells. We identify TRIB3 as a stress‐induced nuclear scaffold that associates with DDX5 and G‐quadruplex DNA atBRCA1 andRAD51AP1 promoters. TRIB3 loss increases G4 accumulation, suppresses HR gene transcription, elevates γ‐H2A.X, and sensitizes
Qiang Ji   +10 more
wiley   +1 more source

A Guide for Spatial Omics Technologies: Innovation, Evaluation, and Application

open access: yesAdvanced Science, EarlyView.
This review presents a strategy‐centric framework for spatial omics technologies, organizing methods by how spatial information is experimentally encoded. It compares key performance trade‐offs across sequencing‐ and imaging‐based approaches, examines computational and practical limitations, and highlights biomedical applications. The analysis provides
Xiaofeng Wu   +5 more
wiley   +1 more source

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