Categoría: Original Research
-
Identification and functional analysis of NAD+ metabolism-related gene NT5E in pulmonary hypertension
BackgroundPulmonary hypertension (PH) is a severe progressive disease characterised by elevated pulmonary vascular resistance and right ventricular hypertrophy. Increasing evidence has highlighted the vital role of nicotinamide adenine dinucleotide (NA…
-
Multi-omics analysis to identify the dynamic changes of immune cells and marker genes in renal fibrosis
IntroductionRenal fibrosis is a common pathological feature of chronic kidney disease and a major driver of progression to end-stage renal disease, but its molecular mechanisms remain incompletely understood.MethodsWe integrated multi-omics datasets fr…
-
Genetic association of LOC100130476 rs80213143 with susceptibility and renal involvement in systemic lupus erythematosus
BackgroundsSystemic lupus erythematosus (SLE) is an autoimmune disease with multi-organ involvement, and lupus nephritis (LN) is a severe manifestation. Long non-coding RNAs (lncRNAs) have been implicated in regulating immune responses in autoimmune di…
-
TTN variants in pediatric cardiomyopathy: a retrospective cohort study
BackgroundTitin (TTN) variants have been implicated in various types of cardiomyopathy. Allelic variant heterogeneity results in variable clinical phenotypes, which remains a major barrier for effective disease management. We aim to investigate the rel…
-
Expanding the clinical and mutational spectrum of hereditary spastic paraplegia type 4 in a cohort of patients from central China
BackgroundMutations in the SPAST gene cause autosomal dominant hereditary spastic paraplegia (HSP) type 4 (SPG4), which is the most common type of HSP with variable frequencies in different ethnic backgrounds. The clinical and genetic characteristics o…
-
CFTR gene variant detection in moroccan individuals via nanopore long-read sequencing
IntroductionCystic fibrosis (CF) is an autosomal recessive disease resulting from pathogenic CF transmembrane conductance regulator (CFTR) pathogenic gene variants. While CF’s frequency varies among ethnicities, its epidemiology, clinical manifestation…
-
Novel splice-site variants in TMPRSS3 impair hearing via exon skipping and abrogated protease activity
BackgroundHearing loss (HL) is genetically heterozygous, making its genetic diagnosis challenging. Identification of novel HL-associated genes and variants will enhance our understanding of the molecular mechanisms and improve genetic diagnosis. TMPRSS…
-
A novel pathogenic APC variant identified in a Chinese pedigree with familial adenomatous polyposis
BackgroundFamilial adenomatous polyposis (FAP) is an autosomal dominant genetic disorder characterized by the development of numerous colorectal polyps and a high predisposition to colorectal cancer, primarily caused by germline variants in the APC gen…
-
SOX9 gene anomalies and campomelic / acampomelic campomelic dysplasia: case report and literature review
Campomelic dysplasia (CD) is a rare skeletal disorder characterized by the hallmark sign of bent femur or tibial bones or both. Subsequently, patients were identified as having features of CD but lacking the bent limbs. This constellation was later des…
-
Identification of gene expression signatures associated with neuroinflammation in discogenic sciatica using machine learning and experimental validation
BackgroundSciatica is a debilitating condition characterized by pain radiating along the sciatic nerve, often manifesting due to underlying neuroinflammatory processes. Understanding the molecular mechanisms linking neuroinflammation to sciatica is ess…