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Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date
BackgroundLipoprotein lipase (LPL) is the rate-limiting enzyme for triglyceride hydrolysis. Homozygous or compound heterozygous LPL variants cause...
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Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn’s disease
PurposeCrohn’s disease is a chronic gastrointestinal inflammatory disease with possible extraintestinal symptoms. There are predisposing genetic...
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PCR Analysis to Identify AAT Gene Promoters and Splice Variants
This chapter explores the methods used for the analysis of alpha1-antitrypsin gene expression. This includes the use of the polymerase chain reaction...
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VBASS enables integration of single cell gene expression data in Bayesian association analysis of rare variants
Rare or de novo variants have substantial contribution to human diseases, but the statistical power to identify risk genes by rare variants is...
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Gene variants and clinical characteristics of children with sitosterolemia
ObjectiveTo enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical...
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Trimethoprim resistance in surface and wastewater is mediated by contrasting variants of the dfrB gene
Trimethoprim (TMP) is a low-cost, widely prescribed antibiotic. Its effectiveness is increasingly challenged by the spread of genes coding for...
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Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease
BackgroundGenomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of...
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Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
Predicting the impact of coding and noncoding variants on splicing is challenging, particularly in non-canonical splice sites, leading to missed...
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Single-cell multiomics of the human retina reveals hierarchical transcription factor collaboration in mediating cell type-specific effects of genetic variants on gene regulation
BackgroundSystematic characterization of how genetic variation modulates gene regulation in a cell type-specific context is essential for...
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Evolution of wheat blast resistance gene Rmg8 accompanied by differentiation of variants recognizing the powdery mildew fungus
Wheat blast, a devastating disease having spread recently from South America to Asia and Africa, is caused by Pyricularia oryzae (synonym of Magnaporth...
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Pathogen recognition pathway gene variants and inflammasome sensors gene expression in tuberculosis patients under treatment
BackgroundSeveral epidemiological studies have suggested that genetic variations in encoding pattern recognition receptors (PRRs) genes such as Toll...
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Genetic variation in histone modifications and gene expression identifies regulatory variants in the mammary gland of cattle
BackgroundCausal variants for complex traits, such as eQTL are often found in non-coding regions of the genome, where they are hypothesised to...
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Identification and Characterization of Novel Variants of Fumarylacetoacetate Hydrolase (FAH) Gene in Clinically Suspected Patients of Tyrosinemia Type 1: Tertiary Care Centre Study of North India
Tyrosinemia type I is a rare autosomal recessive metabolic disease caused by the deficiency of Fumarylacetoacetate hydrolase (FAH). The deficiency...
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SMPD1 gene variants in patients with β-Thalassemia major
Backgroundβ-thalassemia major and Niemann-Pick diseases have similar clinical and laboratory findings. We aimed to investigate the effects of...
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Monitoring the Spread of SARS-CoV-2 Gene Variants in Sverdlovsk and Chelyabinsk Oblasts and Perm Krai
A genomic diversity study of SARS-CoV-2 was conducted in the context of lifting the coronavirus restrictions and reopening Russia’s national borders....
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Variants of the CASP9 gene as candidate markers for primary response to anti-TNF therapy in Crohn’s disease patients
Anti-tumor necrosis factor (TNF) therapy is used to induce and maintain remission in Crohn’s disease (CD) patients. However, primary non-responders...
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Identification of genetic variants that impact gene co-expression relationships using large-scale single-cell data
BackgroundExpression quantitative trait loci (eQTL) studies show how genetic variants affect downstream gene expression. Single-cell data allows...
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Group B Streptococcus Cas9 variants provide insight into programmable gene repression and CRISPR-Cas transcriptional effects
Group B Streptococcus (GBS; S. agalactiae ) causes chorioamnionitis, neonatal sepsis, and can also cause disease in healthy or immunocompromised...
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Interleukin 10 (IL-10) gene variants and haplotypes in Tunisian women with polycystic ovary syndrome (PCOS): a case-control study
BackgroundPolycystic ovary syndrome (PCOS) is a prevalent endocrine disorder that affects women in their child-bearing age, and is associated with...
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Serum and salivary Cu/Zn ratio as a diagnostic biomarker for oral submucosal fibrosis: an analysis of trace metals and LOX gene variants
This study aimed to analyze the serum and salivary levels of copper (Cu), zinc (Zn), iron (Fe), chromium (Cr), manganese (Mn) and the Cu/Zn ratio and...
