Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1365-2141.2008.07223.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Identification of Functionally-Relevant Lentivirus Integration Sites in an Insertional Mutagenesis Cell Library.
J Vis Exp
January 2025
State Key Laboratory of Cellular Stress Biology, School of Life Sciences, Xiamen University;
The extent of functional sequences within the human genome is a pivotal yet debated topic in biology. Although high-throughput reverse genetic screens have made strides in exploring this, they often limit their scope to known genomic elements and may introduce non-specific effects. This underscores the urgent need for novel functional genomics tools that enable a deeper, unbiased understanding of genome functionality.
View Article and Find Full Text PDFNovel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders.
Mol Genet Genomic Med
February 2025
Department of Chemistry and Molecular Biology, Gothenburg University, Gothenburg, Sweden.
Background: SYNGAP1 encodes a Ras/Rap GTPase-activating protein that is predominantly expressed in the brain with the functional roles in regulating synaptic plasticity, spine morphogenesis, and cognition function. Pathogenic variants in SYNGAP1 have been associated with a spectrum of neurodevelopmental disorders characterized by developmental delays, intellectual disabilities, epilepsy, hypotonia, and the features of autism spectrum disorder. The aim of this study was to identify a novel SYNGAP1 gene variant linked to neurodevelopmental disorders and to evaluate the pathogenicity of the detected variant.
View Article and Find Full Text PDFLiquid biopsy for diagnosing epithelial ovarian cancer: quantification of cell-free DNA and p53 mutational analysis.
Int J Gynecol Cancer
January 2025
All India Institute of Medical Sciences, Department of Obstetrics and Gynecology (Gynecologic Oncology), Rishikesh, Uttarakhand, India. Electronic address:
Objective: To isolate and quantify cell-free DNA, analysis for p53 mutations, and correlation with tumor burden in women with epithelial ovarian cancer compared with benign and borderline epithelial ovarian tumors.
Methods: In this case-control study, plasma samples of eligible women collected 1 hour before surgery and based on final histopathology, women with epithelial ovarian cancer recruited as cases and borderline, and benign ovarian tumors as controls. Cell-free DNA extracted from plasma serum and quantified using Nanodrop Spectrophotometer.
The abnormal splicing regulation network caused by synonymous mutations in exon 39 leads to Marfan syndrome.
Genes Dis
May 2025
Department of Clinical Laboratory, Xiang'an Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, Fujian 361102, China.
Introduction: -mutant NSCLC is associated with low mutation burden and low levels of PD-L1 expression. We conducted a phase 2 trial to determine the efficacy of durvalumab, tremelimumab, and platinum-pemetrexed in mutant NSCLC after progression with EGFR tyrosine kinase inhibitors (TKIs).
Methods: Participants were treated with induction durvalumab, tremelimumab, and platinum-pemetrexed, followed by durvalumab-pemetrexed maintenance.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!