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Electrical impedance myography detects dystrophin-related muscle changes in mdx mice
BackgroundThe lack of functional dystrophin protein in Duchenne muscular dystrophy (DMD) causes chronic skeletal muscle inflammation and...
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Melanophilin Polymorphism in Ferrets of Different Color
AbstractIn mammals, the main contribution to the variability of pigmentation is made by two groups of genes directly related to the metabolic...
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Recognition of functional genetic polymorphism using ESE motif definition: a conservative evolutionary approach to CYP2D6/CYP2C19 gene variants
Although predicting the effects of variants near intron-exon boundaries is relatively straightforward, predicting the functional Exon Splicing...
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The highly conserved rps12 gene in ferns provides strong evidence for decreased substitution rates in the inverted repeat region
The typical chloroplast genome consists of two inverted repeat (IR) and two single-copy (SC) regions. Each region has its own pattern of molecular...
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Genetic interaction map** and exon-resolution functional genomics with a hybrid Cas9–Cas12a platform
Systematic map** of genetic interactions (GIs) and interrogation of the functions of sizable genomic segments in mammalian cells represent...
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Structural insights into branch site proofreading by human spliceosome
Selection of the pre-mRNA branch site (BS) by the U2 small nuclear ribonucleoprotein (snRNP) is crucial to prespliceosome (A complex) assembly. The...
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An in vitro and computational validation of a novel loss-of-functional mutation in PAX9 associated with non-syndromic tooth agenesis
Congenital tooth agenesis (CTA) is one of the most common craniofacial anomalies. Its frequency varies among different population depending upon the...
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The fusion gene LRP1–SNRNP25 drives invasion and migration by activating the pJNK/37LRP/MMP2 signaling pathway in osteosarcoma
Through transcriptome sequencing, we previously identified a new osteosarcoma-specific, frequent fusion gene, LRP1 – SNRNP25 , and found that it played...
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Nucleotides in both donor and acceptor splice sites are responsible for choice in NAGNAG tandem splice sites
Among alternative splicing events in the human transcriptome, tandem NAGNAG acceptor splice sites represent an appreciable proportion. Both proximal...
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Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHNNC) is a rare autosomal recessive renal tubulopathy disorder characterized by...
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The SWI/SNF subunit BRG1 affects alternative splicing by changing RNA binding factor interactions with nascent RNA
BRG1 and BRM are ATPase core subunits of the human SWI/SNF chromatin remodelling complexes mainly associated with transcriptional initiation. They...
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Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies
BackgroundDespite numerous molecular and computational advances, roughly half of patients with a rare disease remain undiagnosed after exome or...
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Identification of a novel mutation in the HACD1 gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion
Congenital fibre-type disproportion (CFTD) with myopathy, is a genetically heterogeneous disease in which there is relative hypotrophy of...
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Genetic variation of European mouflon depends on admixture of introduced individuals
In the early twentieth century, European mouflon was introduced in Croatia, while all introductions in Slovenia occurred in the 1950s and 1960s....
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A pan-genome data structure induced by pooled sequencing facilitates variant mining in heterogeneous germplasm
Valuable genetic variation lies unused in gene banks due to the difficulty of exploiting heterogeneous germplasm accessions. Advances in molecular...
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Genome-wide analysis and characterization of heat shock transcription factors (Hsfs) in common bean (Phaseolus vulgaris L.)
Heat shock transcription factors ( Hsfs ) play an essential role as transcriptional regulatory proteins against heat stress by controlling the...
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Maternal methionine supplementation during gestation alters alternative splicing and DNA methylation in bovine skeletal muscle
BackgroundThe evaluation of alternative splicing, including differential isoform expression and differential exon usage, can provide some insights on...
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Genome-wide identification and evolution of the tubulin gene family in Camelina sativa
BackgroundTubulins play crucial roles in numerous fundamental processes of plant development. In flowering plants, tubulins are grouped into α-, β-...
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Genome-wide characterisation of HD-Zip transcription factors and functional analysis of PbHB24 during stone cell formation in Chinese white pear (Pyrus bretschneideri)
BackgroundThe homodomain-leucine zipper (HD-Zip) is a conserved transcription factor family unique to plants that regulate multiple developmental...
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Alternative splicing and genetic variation of mhc-e: implications for rhesus cytomegalovirus-based vaccines
Rhesus cytomegalovirus (RhCMV)-based vaccination against Simian Immunodeficiency virus (SIV) elicits MHC-E-restricted CD8+ T cells that stringently...
