792 Result(s)
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Article
Open AccessCorrection: Pancancer analysis of the prognostic and immunological role of FANCD2: a potential target for carcinogenesis and survival
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Article
Open AccessIdentification of DNA methylation characteristics associated with metastasis and prognosis in colorectal cancer
Colorectal cancer (CRC) is prone to metastasis and recurrence after surgery, which is one of the main causes for its poor treatment and prognosis. Therefore, it is essential to identify biomarkers associated w...
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Article
Open AccessNo genetic causal association between periodontitis and ankylosing spondylitis: a bidirectional two-sample mendelian randomization analysis
Observational studies that reveal an association between periodontitis (PD) and ankylosing spondylitis (AS) exist. However, observational research is prone to reverse causality and confounding factors, which m...
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Article
Open AccessPreclinical safety and biodistribution of CRISPR targeting SIV in non-human primates
In this study, we demonstrate the safety and utility of CRISPR-Cas9 gene editing technology for in vivo editing of proviral DNA in ART-treated, virally controlled simian immunodeficiency virus (SIV) infected r...
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Article
CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy
EPM1 is the most common form of Progressive Myoclonus Epilepsy characterized by late-childhood onset, ever-worsening and disabling myoclonus, seizures, ataxia, psychiatric disease, and shortened lifespan. EPM1...
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Open AccessA multinational survey of potential participant perspectives on ocular gene therapy
Amidst rapid advancements in ocular gene therapy, understanding patient perspectives is crucial for sha** future treatment choices and research directions. This international cross-sectional survey evaluated...
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Article
Open AccessIdentification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome
Sotos syndrome (SOTOS) is an uncommon genetic condition that manifests itself with the following distinctive features: prenatal overgrowth, facial abnormalities, and intellectual disability. This disorder is o...
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Open AccessBioinformatics analysis revealed the potential crosstalk genes and molecular mechanisms between intracranial aneurysms and periodontitis
The risk of intracranial aneurysms (IAs) development and rupture is significantly higher in patients with periodontitis (PD), suggesting an association between the two. However, the specific mechanisms of asso...
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Open AccessPoor statistical power in population-based association study of gene interaction
Statistical epistasis, or “gene–gene interaction” in genetic association studies, means the nonadditive effects between the polymorphic sites on two different genes affecting the same phenotype. In the genetic...
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Article
Open AccessGenetic variability in stroke patients: CYP2C19 polymorphisms unraveled
To study the distribution characteristics of CYP2C19 polymorphisms in patients suffering from stroke in Han Chinese patients.
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Article
Open AccessA novel COL4A5 splicing mutation causes alport syndrome in a Chinese family
Alport syndrome (AS) is characterised by haematuria, proteinuria, a gradual decline in kidney function, hearing loss, and eye abnormalities. The disease is caused by mutations in COL4An (n = 3, 4, 5) that encodes...
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Article
Open AccessComprehensive characterization of immunogenic cell death in acute myeloid leukemia revealing the association with prognosis and tumor immune microenvironment
This study aimed to explore the clinical significance of immunogenic cell death (ICD) in acute myeloid leukemia (AML) and its relationship with the tumor immune microenvironment characteristics. It also aimed ...
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Article
Open AccessSyndromic ciliopathy: a taiwanese single-center study
Syndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual problems, skeletal anomalies, mental retardation, and renal diseases. T...
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Open AccessSLC27A2 is a potential immune biomarker for hematological tumors and significantly regulates the cell cycle progression of diffuse large B-cell lymphoma
Research on the fatty acid metabolism related gene SLC27A2 is currently mainly focused on solid tumors, and its mechanism of action in hematological tumors has not been reported.
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Open AccessWaardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report
Waardenburg syndrome type 2 (WS2) has been reported to be a rare hereditary disorder, which is distinguished by vivid blue eyes, varying degrees of hearing impairment, and abnormal pigment deposition in the sk...
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Open AccessGenetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29
Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in ...
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Article
Open AccessRevealing Prdx4 as a potential diagnostic and therapeutic target for acute pancreatitis based on machine learning analysis
Acute pancreatitis (AP) is a common systemic inflammatory disease resulting from the activation of trypsinogen by various incentives in ICU. The annual incidence rate is approximately 30 out of 100,000. Some p...
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Open AccessRetraction Note: LncRNA PTCSC3 is upregulated in osteoporosis and negatively regulates osteoblast apoptosis
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Open AccessIdentification and analysis of MSC-Exo-derived LncRNAs related to the regulation of EMT in hypospadias
This study aims to screen the differentially expressed long non-coding RNAs (DELncRNAs) related to the regulation of epithelial-mesenchymal transition (EMT) in hypospadias in mesenchymal stem cell-derived exos...
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Article
Pharmacogenomic study—A pilot study of the effect of pharmacogenomic phenotypes on the adequate dosing of verapamil for migraine prevention
To investigate factors affecting the efficacy and tolerability of verapamil for migraine prevention using individual pharmacogenomic phenotypes.
