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LDLR gene rearrangements in Czech FH patients likely arise from one mutational event
BackgroundLarge deletions and duplications within the low-density lipoprotein receptor ( LDLR) gene make up approximately 10% of LDLR pathogenic...
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Methods for Study of Mouse T Cell Receptor α and β Gene Rearrangements
Quantitative real-timePCRquantitative real-time PCR and next-generation sequencing (NGS) are invaluable techniques to analyze T cell receptor (Tcr)...
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Recombination and Chromosomal Rearrangements
Maintenance of chromosome stability is essential for the survival of all organisms and the transmission of their genetic information. Chromosomes...
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Fluorescent in situ hybridization has limitations in screening NRG1 gene rearrangements
BackgroundNRG1 fusion is a promising therapeutic target for various tumors but its prevalence is extremely low, and there are no standardized testing...
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Gene map** methodology powered by induced genome rearrangements
Phenotypic variation occurs through genome rearrangements and mutations in certain responsible genes; however, systematic gene identification...
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Efficient gene orthology inference via large-scale rearrangements
BackgroundRecently we developed a gene orthology inference tool based on genome rearrangements ( Journal of Bioinformatics and Computational Biology ...
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Analysis of measurable residual disease by IG/TR gene rearrangements: quality assurance and updated EuroMRD guidelines
Minimal/measurable residual disease (MRD) diagnostics using real-time quantitative PCR analysis of rearranged immunoglobulin and T-cell receptor gene...
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Gene rearrangements in the mitochondrial genome of Eucleoteuthis luminosa (Ommastrephidae, Cephalopoda) and phylogenetic implications for Coleoidea
The complete mitochondrial genome provides crucial information for comprehending gene rearrangement, molecular evolution, and phylogenetic analysis....
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Minimal residual disease detection by next-generation sequencing of different immunoglobulin gene rearrangements in pediatric B-ALL
While the prognostic role of immunoglobulin heavy chain locus (IGH) rearrangement in minimal residual disease (MRD) in pediatric B-acute...
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The analyses of the complete mitochondrial genomes of three crabs revealed novel gene rearrangements and phylogenetic relationships of Brachyura
BackgroundBrachyura crab is the largest branch of Decapoda crustacean. Phylogenetic relationships within Brachyura remain controversial to be...
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A case of difficult-to-diagnose hepatic reactive lymphoid hyperplasia finally diagnosed by using PCR analysis of IgH-gene rearrangements: a case report
Reactive lymphoid hyperplasia (RLH) of the liver is extremely rare. Despite advancements in diagnostic imaging technology, it is still difficult to...
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Gene Rearrangements in the Mitochondrial Genome of Gonatopsis borealis and Onychoteuthis compacta Reveal Their Phylogenetic Implications for Oegopsida
The complete mitochondrial genome provides crucial information for comprehending gene rearrangement, molecular evolution, and phylogenetic analysis....
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Scrambling the genome in cancer: causes and consequences of complex chromosome rearrangements
Complex chromosome rearrangements, known as chromoanagenesis, are widespread in cancer. Based on large-scale DNA sequencing of human tumours, the...
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Co-localization of clusters of TCR-regulated genes with TAD rearrangements
BackgroundGene expression has long been known to be influenced by the relative proximity of DNA regulatory elements. Topologically associating...
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Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency
Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with genetic material gain and...
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DNA polymerases in precise and predictable CRISPR/Cas9-mediated chromosomal rearrangements
BackgroundRecent studies have shown that, owning to its cohesive cleavage, Cas9-mediated CRISPR gene editing outcomes at junctions of chromosomal...
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Large-scale genomic rearrangements boost SCRaMbLE in Saccharomyces cerevisiae
Synthetic Chromosome Rearrangement and Modification by LoxP-mediated Evolution (SCRaMbLE) is a promising tool to study genomic rearrangements....
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Finding Rearrangements in Nanopore DNA Reads with LAST and dnarrange
Long-read DNA sequencing techniques such as nanopore are especially useful for characterizing complex sequence rearrangements, which occur in some...
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Two cases of mycosis fungoides with large cell transformation with KMT2A rearrangements
Cutaneous T-cell lymphomas (CTCL) are a clinically and molecularly heterogeneous class of lymphomas of the skin-homing T cell, and their genetic...
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Exploring mitogenome evolution in Branchiopoda (Crustacea) lineages reveals gene order rearrangements in Cladocera
The class Branchiopoda, whose origin dates back to Cambrian, includes ~ 1200 species which mainly occupy freshwater habitats. The phylogeny and...
