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Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature
<p>The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile...
Compositional features analysis by machine learning in genome represents linear adaptation of monkeypox virus
Compositional features analysis by machine learning in genome represents linear adaptation of monkeypox virus
<p><bold>Introduction:</bold> The global headlines have been dominated by the sudden and widespread outb...
Genome-wide identification of dysregulated alternative splicing and RNA-binding proteins involved in atopic dermatitis
Genome-wide identification of dysregulated alternative splicing and RNA-binding proteins involved in atopic dermatitis
<p><bold>Objectives:</bold> We explored the role and molecular mechanisms of RNA-binding proteins (RBPs)...
Metabolic syndrome traits exhibit genotype-by-environment interaction in relation to socioeconomic status in the Mexican American family heart study
Metabolic syndrome traits exhibit genotype-by-environment interaction in relation to socioeconomic status in the Mexican American family heart study
<p><bold>Background:</bold> Socioeconomic Status (SES) is a potent environmental determinant of health. ...
Finding potential lncRNA–disease associations using a boosting-based ensemble learning model
Finding potential lncRNA–disease associations using a boosting-based ensemble learning model
<p><bold>Introduction:</bold> Long non-coding RNAs (lncRNAs) have been in the clinical use as potential ...
Role of circular RNAs in lung cancer
Role of circular RNAs in lung cancer
<p>Lung cancer remains a global public health concern with significant research focus on developing better diagnosis...
Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus
Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus
<p>Early-onset systemic lupus erythematosus presents with a more severe disease and is associated with a greater gen...
Editorial: Molecular and breeding mechanisms for enhanced performance in underutilized leguminous crops in Africa
Editorial: Molecular and breeding mechanisms for enhanced performance in underutilized leguminous crops in Africa
Legumes such as chickpea (Cicer arietinum), common bean (Phaseolus vulgaris), Bambara groundnut (Vigna subterranea), cowpe...
Flexible gold standards for transcription factor regulatory interactions in Escherichia coli K-12: architecture of evidence types
Flexible gold standards for transcription factor regulatory interactions in Escherichia coli K-12: architecture of evidence types
<p>Post-genomic implementations have expanded the experimental strategies to identify elements involved in the regul...
Editorial: Non-coding RNA elements as regulators of host–pathogen interactions
Editorial: Non-coding RNA elements as regulators of host–pathogen interactions
Microbes such as viruses, bacteria, and protozoa often cause infections in a variety of organisms, with the course and out...
Long read sequencing on its way to the routine diagnostics of genetic diseases
Long read sequencing on its way to the routine diagnostics of genetic diseases
<p>The clinical application of technological progress in the identification of DNA alterations has always led to imp...
Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review
Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review
<p><bold>Background:</bold> Developmental and epileptic encephalopathies (DEEs) are a group of heterogen...
Elucidating the role of TWIST1 in ulcerative colitis: a comprehensive bioinformatics and machine learning approach
Elucidating the role of TWIST1 in ulcerative colitis: a comprehensive bioinformatics and machine learning approach
<p><bold>Background:</bold> Ulcerative colitis (UC) is a common and progressive inflammatory bowel disea...
Comparative stigmatic transcriptomics reveals self and cross pollination responses to heteromorphic incompatibility in Plumbago auriculata Lam.
Comparative stigmatic transcriptomics reveals self and cross pollination responses to heteromorphic incompatibility in Plumbago auriculata Lam.
<p>“Heteromorphic self-incompatibility” (HetSI) in plants is a mechanism of defense to avoid self-pollination and pr...
Hybrid de novo and haplotype-resolved genome assembly of Vechur cattle — elucidating genetic variation
Hybrid de novo and haplotype-resolved genome assembly of Vechur cattle — elucidating genetic variation
<p>Cattle contribute to the nutritional needs and economy of a place. The performance and fitness of cattle depend o...
Searching for gene-gene interactions through variance quantitative trait loci of 29 continuous Taiwan Biobank phenotypes
Searching for gene-gene interactions through variance quantitative trait loci of 29 continuous Taiwan Biobank phenotypes
<p><bold>Introduction:</bold> After the era of genome-wide association studies (GWAS), thousands of gene...
Mendelian randomization study shows no causal relationship between psychiatric disorders and glaucoma in European and East Asian populations
Mendelian randomization study shows no causal relationship between psychiatric disorders and glaucoma in European and East Asian populations
<p><bold>Background:</bold> Glaucoma is a leading cause of blindness strongly associated with psychiatri...
tRNA engineering strategies for genetic code expansion
tRNA engineering strategies for genetic code expansion
<p>The advancement of genetic code expansion (GCE) technology is attributed to the establishment of specific aminoac...
Uganda chicken genetic resources: II. genetic diversity and population demographic history inferred from mitochondrial DNA D-loop sequences
Uganda chicken genetic resources: II. genetic diversity and population demographic history inferred from mitochondrial DNA D-loop sequences
<p>The genetic diversity of indigenous chickens, which comprise over 80% of the chicken resources in Uganda, is larg...
High-resolution genomic profiling and locus-specific FISH in subcutaneous and visceral adipose tissue of obese patients
High-resolution genomic profiling and locus-specific FISH in subcutaneous and visceral adipose tissue of obese patients
<p>Obesity is known as a heterogeneous and multifactorial disease. The distribution of body fat is crucial for the d...
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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