Results 171 to 180 of about 248,138 (311)

Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon

open access: yes, 2010
Context: The GH receptor (GHR) pseudoexon 6 Psi defect is a frequent cause of GH insensitivity (GHI) resulting from a non-functioning GH receptor (GHR). It results in a broad range of phenotypes and may also be present in patients diagnosed as idiopathic
Srirangalingam, U   +4 more
core  

Endoplasmic Reticulum Geometry Dictates Neuronal Bursting via Calcium Store Refill Rates and Exposes Selective Neuronal Vulnerability

open access: yesAdvanced Science, EarlyView.
The ER's continuous tubular network is maintained by ER‐shaping proteins whose mutation or dysregulation contributes to neurodegenerative diseases. Here, we show that ER morphology sets the speed of Ca2+ store replenishment between firing events. Disrupting ER continuity slows intra‐ER Ca2+ redistribution from extracellular refill (SOCE) sites, driving
Valentina Davi   +13 more
wiley   +1 more source

Leveraging Artificial Intelligence and Large Language Models for Cancer Immunotherapy

open access: yesAdvanced Science, EarlyView.
Cancer immunotherapy faces challenges in predicting treatment responses and understanding resistance mechanisms. Artificial intelligence (AI) and machine learning (ML) offer powerful solutions for cancer immunotherapy in patient stratification, biomarker discovery, treatment strategy optimization, and foundation model development.
Xinchao Wu   +4 more
wiley   +1 more source

DNA Replication Errors Drive Genome‐Wide Small Inverted Triplication Dynamics

open access: yesAdvanced Science, EarlyView.
This study provides insight into the dynamic equilibrium mechanism of a novel structural variant, small inverted triplication (SIT), which is generated by misalignment of the 3’ flap generated under DNA replication stress with palindromic sequence. Alternatively, the end sequence may fold back on itself to form an inverted fragment.
Yi Lei   +12 more
wiley   +1 more source

A Deeper Look into RNA Splicing

open access: yes, 2014
An editorial perspective on "Using Pre-mRNA Secondary Structure to Predict Splicing" by A. Maity and L. Chasin.
openaire   +2 more sources

GHRHR Deficiency Enhances Retinal Ganglion Cell Survival and Visual Functions in Experimental Glaucoma by Inhibiting Ferroptosis

open access: yesAdvanced Science, EarlyView.
Glaucoma, a major cause of blindness, involves retinal ganglion cell (RGC) degeneration. This study shows growth hormone‐releasing hormone receptor (GHRHR) deficiency preserves RGC survival and restores vision, unlike activation which only aids survival.
Yan Tong   +24 more
wiley   +1 more source

The Trichinella Super‐Pangenome Reveals the Evolution of Encapsulation and Predicted Host–Parasite Protein Interactions

open access: yesAdvanced Science, EarlyView.
ABSTRACT The muscle capsule of Trichinella is a critical structure that impedes immune attacks and drug penetration, yet the molecular mechanisms underlying its formation remain poorly understood. Using a high‐quality super‐pangenome comprising 12 Trichinella species, we compared extensive genomic variations between encapsulating and non‐encapsulating ...
Qingbo Lv   +8 more
wiley   +1 more source

Disruption of the SNRPF–DDX24–E2F4 Feedback Loop Uncouples Splicing and Transcriptional Regulation to Suppress Ovarian Cancer Progression

open access: yesAdvanced Science, EarlyView.
This study identifies SNRPF as a critical oncogenic driver in ovarian cancer. By regulating a self‐sustaining SNRPF–DDX24–E2F4 feedback loop through intron retention and nonsense‐mediated decay, SNRPF couples RNA splicing with transcriptional regulation to promote tumor progression.
Yingwei Li   +4 more
wiley   +1 more source

Generative modeling for RNA splicing prediction and design. [PDF]

open access: yesElife
Wu D   +9 more
europepmc   +1 more source

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