OBJECTIVE Spinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood in North America, Europe, and Asia. SMA is usually caused by deletions of the survival motor neuron 1 (SMN1) gene. A closely related gene, SMN2, modifies the disease severity. SMA carriers have only 1 copy of SMN1 and are relatively common (1 in 30-50) in populations of Eu...

We isolated mutants of Escherichia coli which showed Li+-resistant growth on melibiose. The melibiose carrier of the mutants lost the ability to couple to H+, whereas it retained the ability to couple to Na+. The mutated gene, melB, of the mutants was cloned, and the nucleotide sequence was determined. The nucleotide replacements caused the following substitutions of amino acid residues in the ...

The structural genes (melB) for the melibiose carrier of five mutants of Escherichia coli showing altered cation specificity for melibiose transport were cloned. The mutations were mapped in a 248-base-pair DNA fragment by a recombinational assay by using the mutants transformed with hybrid plasmids carrying various portions of the wild-type melB gene. The nucleotide sequences of the correspond...

introduction: haemophilia a is the most common inherited x-linked recessive bleeding disorder. the severity of the resultant bleeding diathesis depends on the fviii levels associated with the mutation. analysis of carrier state can be made indirectly by dna linkage analysis or directly by identifying the mutation that leads to the disease. the aim of this study was to identification of the caus...

cystic fibrosis (cf) is the most common severe autosomal recessive disorder caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (cftr) protein. the frequencies, types and distributions of mutations vary widely between different populations and ethnic groups. the aim of this study was to perform a comprehensive analysis of the c...

Many different inherited bleeding disorders have been identified in dogs, defined on the basis of quantitative, functional, or structural defects in specific hemostatic proteins or pathways. Most of these disorders are caused by single-gene defects and biochemical assays provide an accurate measure of disease phenotype. Phenotypic disease classifications, however, are often genetically heteroge...

The intracellular transport of therapeutic gene carriers is poorly understood, limiting the rational design of efficient new vectors. We used live-cell real-time multiple particle tracking to quantify the intracellular transport of hundreds of individual nonviral DNA nanocarriers with 5-nm and 33-ms resolution. Unexpected parallels between several of nature's most efficient DNA viruses and nonv...

In the absence of any ideal gene delivery carrier despite the recent explosion of novel carrier systems, the current trend is to explore the complementary synergy promised by a combination of delivery systems such as liposomes, which are the most widely researched versatile non-viral carriers, and tissue-engineered scaffolds with macrostructures of defined architecture comprised of natural or s...

Lepidopteran insects are highly refractory to oral RNA interference (RNAi). Degradation, impaired cellular uptake and intracellular transport of double-stranded (dsRNA) considered the major factors responsible for reduced RNAi efficiency in these insects. In this study, potential lectins improve dsRNA delivery efficacy was evaluated. First, a fusion protein consisting Galanthus nivalis agglutin...

the present study was aimed to construct a fusion plasmid harboring the extracellular domain of the influenza a m2-protein (m2e), which was fused to the n-terminus of the truncated hsp70 (hsp70359–610) molecule as a new approach for future vaccine research against influenza a. the amplified fragments, m2e and hsp70359-610 genes, were gel-purified. the products were then single digested with bam...