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Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita
IntroductionMyotonia congenita (MC) is a non-dystrophic muscular disease characterized by impaired muscle relaxation after...
Gender-specific association of STON2 rs2371597 polymorphism in keratoconus patients of Saudi origin
IntroductionKeratoconus (KC) is a progressive eye condition characterized by the gradual thinning and protrusion of the co...
UDP-glucuronosyltransferases 2A3 as a biomarker for ulcerative colitis and colon cancer
1 IntroductionUlcerative colitis (UC) is an idiopathic chronic inflammatory bowel disease (Conrad et al., 2014). Patients ...
Integration of single-cell and bulk analysis reveals TBXAS1 as a key platelet-related gene causing poor prognosis in osteosarcoma
IntroductionOsteosarcoma is the most common primary bone tumor in children, adults, and elderly people over 60 years old (...
Identification of crucial drought-tolerant genes of barley through comparative transcriptomic analysis and yeast-based stress assay
1 IntroductionWater comprises roughly 80%–95% of fresh plant body biomass, serving as an essential medium for the physiolo...
Validation of selection signatures for coat color in the Podolica Italiana gray cattle breed
IntroductionIn wild animal species, coloration is considered as one of the mechanisms of camouflage, intra- and inter-spec...
AnchorFCI: harnessing genetic anchors for enhanced causal discovery of cardiometabolic disease pathways
1 IntroductionCardiometabolic diseases, including cardiovascular disease and metabolic syndrome, are major global health c...
Four new genome sequences of the Pallas’s cat (Otocolobus manul): an insight into the patterns of within-species variability
1 IntroductionManul, also called Pallas’s cat or Rock Wildcat (Otocolobus manul), is the only representative of the genus ...
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance
BackgroundAdvances in genomic technologies, particularly next-generation sequencing, have revolutionized the detection and...
DMOIT: denoised multi-omics integration approach based on transformer multi-head self-attention mechanism
1 IntroductionWith the advent of high-throughput sequencing technologies, various types of omics data, including genomics,...
Whole-exome sequencing identified a novel heterozygous variant in UBAP2L in a Chinese family with neurodevelopmental disorder characterized by impaired language, behavioral abnormalities, and dysmorphic facies
IntroductionUBAP2L-deficiency syndrome, also known as neurodevelopmental disorder with impaired language, behavioral abnor...
Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series
BackgroundSpinal muscular atrophies (SMAs) encompass a range of inherited neuromuscular disorders predominantly characteri...
MMPred: a tool to predict peptide mimicry events in MHC class II recognition
1 IntroductionEpidemiological, clinical, and experimental evidence supports the association between infections and autoimm...
Editorial: Multi-omic approaches decipher the pathogenesis of nervous system diseases and identify potential therapeutic drugs
Diseases of the nervous system (both central and peripheral) involve complex underlying molecular mechanisms and have a de...
Selection signature analysis reveals genes associated with tail phenotype in sheep
1 IntroductionSheep (Ovis aries), as a major source of meat, milk, fiber and leather for mankind, has been domesticated si...
The complete chloroplast genome of Illicium verum and comparative analysis with related species from Magnoliaceae and Illiciaceae
1 IntroductionIllicium verum Hook.f., (Illicium verum, Illiciaceae) is an aromatic evergreen tree that produces purple-red...
The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin
1 IntroductionGNE-myopathy (GNEM) is a rare autosomal recessive muscle disease that belongs to the group of distal myopath...
Pathogenesis and management of TRPV3-related Olmsted syndrome
IntroductionOlmsted syndrome (OS) is a rare hereditary dermatosis characterized by symmetrically distributed, destructive,...
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis
1 IntroductionInfantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare ...
Association between arthropathies and postpartum hemorrhage: a bidirectional Mendelian randomization study
1 IntroductionPostpartum hemorrhage (PPH) remains a significant obstetric complication and a major risk during childbirth....
Methylation and transcriptomic expression profiles of HUVEC in the oxygen and glucose deprivation model and its clinical implications in AMI patients
Methylation and transcriptomic expression profiles of HUVEC in the oxygen and glucose deprivation model and its clinical implications in AMI patients
The obstructed coronary artery undergoes a series of pathological changes due to ischemic-hypoxic shocks during acute myoc...
Impact of MICA 3′UTR allelic variability on miRNA binding prediction, a bioinformatic approach
Impact of MICA 3′UTR allelic variability on miRNA binding prediction, a bioinformatic approach
MicroRNAs (miRNAs) are small non-coding RNAs that participate as powerful genetic regulators. MiRNAs can interfere with ce...
Editorial: Characterizing the neurobehavioral phenotype of mendelian disorders of epigenetic machinery
Editorial: Characterizing the neurobehavioral phenotype of mendelian disorders of epigenetic machinery
Mendelian disorders of the epigenetic machinery (MDEMs) are a group of neurodevelopmental disorders caused by pathogenic v...
Liquid biopsy in non-small cell lung cancer: a meta-analysis of state-of-the-art and future perspectives
Liquid biopsy in non-small cell lung cancer: a meta-analysis of state-of-the-art and future perspectives
Introduction: To date, tissue biopsy represents the gold standard for characterizing non-small-cell lung cancer (NSCLC), h...
New understandings of the genetic regulatory relationship between non-coding RNAs and m6A modification
New understandings of the genetic regulatory relationship between non-coding RNAs and m6A modification
One of the most frequent epigenetic modifications of RNA in eukaryotes is N6 methyladenosine (m6A), which is mostly presen...
Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening
Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 member 5 (SLC22A5) gene i...
netMUG: a novel network-guided multi-view clustering workflow for dissecting genetic and facial heterogeneity
netMUG: a novel network-guided multi-view clustering workflow for dissecting genetic and facial heterogeneity
Introduction: Multi-view data offer advantages over single-view data for characterizing individuals, which is crucial in p...
A data management plan for the NESHIE observational study
A data management plan for the NESHIE observational study
With regard to the use and transfer of research participants’ personal information, samples and other data nationally and ...
ncRNAs: an unexplored cellular defense mechanism in leprosy
ncRNAs: an unexplored cellular defense mechanism in leprosy
Leprosy is an infectious disease primarily caused by the obligate intracellular parasite Mycobacterium leprae. Although it...
Case report: Genetic analysis of a novel intronic inversion variant in the SPTB gene associated with hereditary spherocytosis
Case report: Genetic analysis of a novel intronic inversion variant in the SPTB gene associated with hereditary spherocytosis
Background: Hereditary spherocytosis (HS) is a congenital haemolytic anaemia attributed to dysregulation or abnormal quant...
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