829 Result(s)
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Article
Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study
Endometriosis is a common gynecological disorder affecting around 10% of reproductive-age women. Although many hypotheses were proposed, genetic alteration has been considered as one of the key factors promoti...
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Open AccessGenetic evidence for causal association between migraine and dementia: a mendelian randomization study
There is an association between migraine and dementia, however, their causal relationship remains unclear. This study employed bidirectional two-sample Mendelian randomization (MR) to investigate the potential...
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Stable inhibition of choroidal neovascularization by adeno-associated virus 2/8-vectored bispecific molecules
Neovascular age-related macular degeneration (nAMD) causes severe visual impairment. Pigment epithelium-derived factor (PEDF), soluble CD59 (sCD59), and soluble fms-like tyrosine kinase-1 (sFLT-1) are potentia...
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Open AccessRNA-seq reveals differentially expressed lncRNAs and circRNAs and their associated functional network in HTR-8/Svneo cells under hypoxic conditions
Placental hypoxia is hazardous to maternal health as well as fetal growth and development. Preeclampsia and intrauterine growth restriction are common pregnancy problems, and one of the causes is placental hyp...
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Open AccessComprehensive analysis of the expression, prognostic, and immune infiltration for COL4s in stomach adenocarcinoma
Collagen (COL) genes, play a key role in tumor invasion and metastasis, are involved in tumor extracellular matrix (ECM)-receptor interactions and focal adhesion pathways. However, studies focusing on the diag...
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Open AccessThe prognostic significance of ubiquitination-related genes in multiple myeloma by bioinformatics analysis
Immunoregulatory drugs regulate the ubiquitin-proteasome system, which is the main treatment for multiple myeloma (MM) at present. In this study, bioinformatics analysis was used to construct the risk model an...
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Open AccessIdentification of miRNA expression profile in middle ear cholesteatoma using small RNA-sequencing
The present study aims to identify the differential miRNA expression profile in middle ear cholesteatoma and explore their potential roles in its pathogenesis.
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Open AccessNo causal relationship between glucose and inflammatory bowel disease: a bidirectional two-sample mendelian randomization study
Association between glucose and inflammatory bowel disease (IBD) was found in previous observational studies and in cohort studies. However, it is not clear whether these associations reflect causality. Thus, ...
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Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia
Intronic GAA repeat expansion ([GAA] ≥250) in FGF14 is associated with the late-onset neurodegenerative disorder, spinocerebellar ataxia 27B (SCA27B, GAA-FGF14 ataxia). We aim to determine the prevalence of the G...
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Article
PARP inhibitor and immune checkpoint inhibitor have synergism efficacy in gallbladder cancer
Gallbladder cancer (GBC) is an aggressive cancer with poor prognosis. PARP inhibitors (PARPi) target PARP enzymes and have shown efficacy in patients with breast cancer gene (BRCA) mutations. Immunotherapy, es...
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Open AccessClinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency
To investigate the clinical features, ALDH5A1 gene variations, treatment, and prognosis of patients with succinic semialdehyde dehydrogenase (SSADH) deficiency.
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Open AccessZEB family is a prognostic biomarker and correlates with anoikis and immune infiltration in kidney renal clear cell carcinoma
Zinc finger E-box binding homEeobox 1 (ZEB1) and ZEB2 are two anoikis-related transcription factors. The mRNA expressions of these two genes are significantly increased in kidney renal clear cell carcinoma (KI...
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Open AccessIncreased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population
Previous studies have implicated inherited mutations in mitochondrial DNA (mtDNA) in sensorineural hearing loss (SNHL). However, the definitive association between mitochondrial 12S rRNA (MT-RNR1) variants and he...
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Open AccessDeciphering the molecular nexus of BTG2 in periodontitis and diabetic kidney disease
To investigate the role of BTG2 in periodontitis and diabetic kidney disease (DKD) and its potential underlying mechanism.
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Open AccessThe potential role of RNA sequencing in diagnosing unexplained insensitivity to conventional chemotherapy in pediatric patients with B-cell acute lymphoblastic leukemia
Pediatric B-cell acute lymphoblastic leukemia (B-ALL) is a highly heterogeneous disease. According to large-scale RNA sequencing (RNA-seq) data, B-ALL patients can be divided into more than 10 subgroups. Howev...
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Open AccessTumorigenic role of Pak4 in ovarian cancer and its correlation with immune infiltration
Ovarian cancer is the most common cause of gynecological cancer death. Pak4 has been proved to be tumorigenic in many types of cancers, but its role in ovarian cancer is still not clarified.
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Open AccessCausal roles and clinical utility of cardiovascular proteins in colorectal cancer risk: a multi-modal study integrating mendelian randomization, expression profiling, and survival analysis
This comprehensive investigation delved into the intricate causal interplay existing between cardiovascular-related plasma proteins and the susceptibility to colorectal cancer, leveraging the robust framework ...
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Open AccessComplex genotype–phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes
Thoracic aortic aneurysm/dissection (TAAD) and patent ductus arteriosus (PDA) are serious autosomal-dominant diseases affecting the cardiovascular system. They are mainly caused by variants in the MYH11 gene, whi...
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Open AccessIntegrated bioinformatics analysis for exploring potential biomarkers related to Parkinson’s disease progression
Parkinson’s disease (PD) is a progressive neurodegenerative disease with increasing prevalence. Effective diagnostic markers and therapeutic methods are still lacking. Exploring key molecular markers and mecha...
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Open AccessRetinoic acid related orphan receptor α is a genetic modifier that rescues retinal degeneration in a mouse model of Stargardt disease and Dry AMD
Degeneration of the macula is associated with several overlap** diseases including age-related macular degeneration (AMD) and Stargardt Disease (STGD). Mutations in ATP Binding Cassette Subfamily A Member 4 (AB...