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A novel ATP2A2 mutation in Darier and genotype phenotype: correlation analysis
A novel ATP2A2 mutation in Darier and genotype phenotype: correlation analysis
Darier’s disease (DD) is a skin disorder caused by mutations in the ATP2A2 gene. Researchers have been investigating...
Granzyme mRNA-miRNA interaction and its implication to functional impact
Granzyme mRNA-miRNA interaction and its implication to functional impact
Granzyme activity can affect the processing and stability of miRNAs within target cells. They also could induce changes in...
Enhanced adaptive permutation test with negative binomial distribution in genome-wide omics datasets
Enhanced adaptive permutation test with negative binomial distribution in genome-wide omics datasets
The permutation test has been widely used to provide the p-values of statistical tests when the standard test statistics d...
Analysis of key pathways and genes in nodal structure on rat skin surface using gene ontology and KEGG pathway
Analysis of key pathways and genes in nodal structure on rat skin surface using gene ontology and KEGG pathway
We have previously reported anatomical, histological, and gene expression characteristics of the nodal structure of rat sk...
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation
Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by abnormal thickening of the skin on t...
Bacterial profile-based body fluid identification using a machine learning approach
Bacterial profile-based body fluid identification using a machine learning approach
Identifying the origins of biological traces is critical for the reconstruction of crime scenes in forensic investigations...
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity
Congenital anomalies of the knee are a spectrum of rare disorders with wide clinical and genetic variability, which are ma...
Impact of potential biomarkers, SNRPE, COX7C, and RPS27, on idiopathic Parkinson’s disease
Impact of potential biomarkers, SNRPE, COX7C, and RPS27, on idiopathic Parkinson’s disease
Parkinson’s disease (PD) is a progressive neuro-degenerative disorder most common in older adults which is associate...
A novel CLRN2 variant: expanding the mutation spectrum and its critical role in isolated hearing impairment
A novel CLRN2 variant: expanding the mutation spectrum and its critical role in isolated hearing impairment
Biallelic variants in the CLRN2 gene have been reported to cause autosomal recessive profound hearing impairment in humans...
Transcriptome analysis of tilapia streptococcus agalactiae in response to baicalin
Transcriptome analysis of tilapia streptococcus agalactiae in response to baicalin
Streptococcus agalactiae (S. agalactiae) is a highly pathogenic bacterial pathogen in aquatic animals. Our previous study ...
Genetic diversity and structure of Persicaria amphibia (Polygonaceae) in South Korea using genotyping by sequencing
Genetic diversity and structure of Persicaria amphibia (Polygonaceae) in South Korea using genotyping by sequencing
Persicaria amphibia, a member of the Polygonaceae family, exists both aquatic and terrestrial forms. It is native to North...
Genome-wide identification and expression profiling of the Wnt gene family in three abalone species
Genome-wide identification and expression profiling of the Wnt gene family in three abalone species
The Wnt gene family plays pivotal roles in a variety of biological processes including cell proliferation and differentiat...
Integrated analysis of single-cell RNA-seq and bulk RNA-seq revealed key genes for bone metastasis and chemoresistance in prostate cancer
Integrated analysis of single-cell RNA-seq and bulk RNA-seq revealed key genes for bone metastasis and chemoresistance in prostate cancer
Prostate cancer (PCa) is a serious malignancy. The main causes of PCa aggravation and death are unexplained resistance to ...
GVAF: generalized, flexible filtering software for annotated variant files
GVAF: generalized, flexible filtering software for annotated variant files
In the rapidly advancing field of genomics, many tools have been developed to interpret genetic variants using next-genera...
Units containing telomeric repeats are prevalent in subtelomeric regions of a Mesorhabditis isolate collected from the Republic of Korea
Units containing telomeric repeats are prevalent in subtelomeric regions of a Mesorhabditis isolate collected from the Republic of Korea
Mesorhabditis is known for its somatic genome being only a small portion of the germline genome due to programmed DNA elim...
Clinical report and genetic analysis of a Chinese family with retinitis pigmentosa 79 caused by a novel loss-of-function HK1 variant
Clinical report and genetic analysis of a Chinese family with retinitis pigmentosa 79 caused by a novel loss-of-function HK1 variant
Retinitis pigmentosa (RP) is a genetically heterogeneous disease. RP 79 has been associated with heterozygous variants of ...
Kernel-based hierarchical structural component models for pathway analysis on survival phenotype
Kernel-based hierarchical structural component models for pathway analysis on survival phenotype
High-throughput sequencing, particularly RNA-sequencing (RNA-seq), has advanced differential gene expression analysis, rev...
Genome-wide analysis of the potato GRF gene family and their expression profiles in response to hormone and Ralstonia solanacearum infection
Genome-wide analysis of the potato GRF gene family and their expression profiles in response to hormone and Ralstonia solanacearum infection
Potato (Solanum tuberosum L.) is one of the most economically significant crops globally. Nevertheless, potato cultivation...
Comparative analysis of the transcriptomes from regenerated plants and root explants of endangered Oplopanax elatus
Comparative analysis of the transcriptomes from regenerated plants and root explants of endangered Oplopanax elatus
Oplopanax elatus is a plant of therapeutic significance in oriental medicine; however, its mass cultivation is limited owi...
Transcriptome-based screening and validation of key genes for wool color in cashmere goats
Transcriptome-based screening and validation of key genes for wool color in cashmere goats
Colored wool from cashmere goats is increasingly popular among consumers, but the transcriptomic differences between coat ...
Cytogenetic analysis and visualization of genetic relationships in wild lilies
Cytogenetic analysis and visualization of genetic relationships in wild lilies
Lilies are highly regarded for their ornamental appeal and striking flowers, which are of significant importance in hortic...
Transcriptome analysis of the effect of HERV-K env gene knockout in ovarian cancer cell lines
Transcriptome analysis of the effect of HERV-K env gene knockout in ovarian cancer cell lines
Human endogenous retroviruses (HERVs) have been implicated in the pathogenesis of various diseases, particularly cancers. ...
Roles and action mechanisms of NRIP1 in pre-eclampsia
Roles and action mechanisms of NRIP1 in pre-eclampsia
Pre-eclampsia (PE) is characterized by the onset of hypertension and proteinuria during pregnancy. Here, we aimed to explo...
ADP-glucose pyrophosphorylase gene family in soybean and implications in drought stress tolerance
ADP-glucose pyrophosphorylase gene family in soybean and implications in drought stress tolerance
ADP-glucose pyrophosphorylase (AGPase) is the key rate-limiting enzyme in starch biosynthesis pathway, and has been identi...
Genomic analyses of intricate interaction of TE-lncRNA overlapping genes with miRNAs in human diseases
Genomic analyses of intricate interaction of TE-lncRNA overlapping genes with miRNAs in human diseases
Transposable elements (TEs) are known to be inserted into genome to create transcript isoforms or to generate long non-cod...