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VNTR polymorphism in the breakpoint region of ABL1 and susceptibility to bladder cancer
BackgroundABL1 is primarily known as a leukemia-related oncogene due to translocation, but about 2.2% of ABL1 mutations have been identified in...
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Detection of recombinant breakpoint in the genome of human enterovirus E11 strain associated with a fatal nosocomial outbreak
BackgroundThe aim of this study was to characterize the genome of a recombinant Enterovirus associated with severe and fatal nosocomial infection; it...
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Amino acid substitutions in the region between RpoB clusters II and III on rifampin susceptibility in Haemophilus influenzae
BackgroundRifampin is a potent chemoprophylactic antibiotic for Haemophilus influenzae infection, and the resistance rate in H. influenzae is low....
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Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we...
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Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
BackgroundHaploinsufficiency of the transcription factor PAX6 is the main cause of congenital aniridia, a genetic disorder characterized by iris and...
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Protein-altering variants at copy number-variable regions influence diverse human phenotypes
Copy number variants (CNVs) are among the largest genetic variants, yet CNVs have not been effectively ascertained in most genetic association...
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Prevalence and genetic diversity in bovine parechovirus infecting Japanese cattle
The first bovine parechovirus (Bo_ParV) was reported in 2021, and currently, only two nearly complete genome sequences of Bo_ParV are available. In...
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Chimeric Genes Causing 11β-Hydroxylase Deficiency: Implications in Clinical and Molecular Diagnosis
Deficiency of 11β-hydroxylase (11β-OHD) is the second most common cause of congenital adrenal hyperplasia (CAH), accounting for 0.2–8% of all cases....
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Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
BackgroundLong-read sequencing is increasingly used to uncover structural variants in the human genome, both functionally neutral and deleterious....
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A palindromic RNA sequence as a common breakpoint contributor to copy-choice recombination in SARS-COV-2
Much remains unknown concerning the origin of the novel pandemic coronavirus that has raged across the globe since emerging in Wuhan of Hubei...
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Novel Isoforms of Adhesion G Protein-Coupled Receptor B1 (ADGRB1/BAI1) Generated from an Alternative Promoter in Intron 17
Brain-specific angiogenesis inhibitor 1 (BAI1) belongs to the adhesion G-protein-coupled receptors, which exhibit large multi-domain extracellular N...
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Porcine epidemic diarrhea virus strain CH/HLJ/18 isolated in China: characterization and phylogenetic analysis
BackgroundPorcine epidemic diarrhea (PED) is an infectious disease of the digestive tract caused by the porcine epidemic diarrhea virus (PEDV),...
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Discrepancy of synaptic and microtubular protein phosphorylation in the hippocampus of APP/PS1 and MAPT×P301S transgenic mice at the early stage of Alzheimer’s disease
Alzheimer’s disease (AD) is the most common neurodegenerative disorder, and is caused by multiple pathological factors, such as the overproduction of...
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PROTAC’ing oncoproteins: targeted protein degradation for cancer therapy
Molecularly targeted cancer therapies substantially improve patient outcomes, although the durability of their effectiveness can be limited....
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CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome
Atypical hemolytic uremic syndrome (aHUS) is a rare complement-mediated disease that manifests as the triad of thrombotic microangiopathy. We...
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Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma
BackgroundMitochondria play essential roles in tumorigenesis; however, little is known about the contribution of mitochondrial DNA (mtDNA) to...
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Hematological, clinical, cytogenetic and molecular profiles of confirmed chronic myeloid leukemia patients at presentation at a tertiary care teaching hospital in Addis Ababa, Ethiopia: a cross-sectional study
BackgroundIn low-income countries there is insufficient evidence on hematological, clinical, cytogenetic and molecular profiles among new CML...
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Molecular characteristics of a coxsackievirus A12 strain in Zhejiang of China, 2019
BackgroundEnterovirus A (EV-A), such as enterovirus A71 (EV-A71), generally causes hand, foot, and mouth disease (HFMD). However, limited studies...
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DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number
Williams-Beuren syndrome (WBS) and 7q11.23 duplication syndrome (Dup7) are rare neurodevelopmental disorders caused by deletion and duplication of a...
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Molecular characterization of a porcine sapelovirus strain isolated in China
Porcine sapelovirus (PSV) infections have been associated with a wide spectrum of symptoms, ranging from asymptomatic infection to clinical signs...
