Mutations in the components of the minor spliceosome underlie several human diseases. A subset of patients with isolated growth hormone deficiency (IGHD) harbors mutations in the RNPC3 gene, which encodes the minor spliceosome-specific U11/U12-65K protein. Although a previous study showed that IGHD patient cells have defects in U12-type intron recognition, the biochemical effects of these mutat...

A 340 nucleotide section of the c- myc 5' untranslated region (UTR) contains an internal ribosome entry segment. We have described previously a mutation in this region of RNA in cell lines derived from patients with multiple myeloma (MM) which exhibit increased expression of c- myc protein by an aberrant translational mechanism. In this study we show by electrophoretic mobility shift assays (EM...

Aspergillus fumigatus is a potentially deadly opportunistic human pathogen. A. has evolved variety of mechanisms to evade detection by the immune system. For example, conidium surface covered in layer 1,8-dihydroxynaphthalene (DHN) melanin which masks antigen macrophages use for recognition. DHN also protects conidia from ultraviolet radiation and gives their characteristic green-grayish color....

Mirolysin is a secretory protease of Tannerella forsythia, member the dysbiotic oral microbiota responsible for periodontitis. In this study, we show that mirolysin latency achieved by “cysteine-switch” mechanism exerted Cys23 in N-terminal profragment. Mutation shortened time needed activation zymogen from several days to 5 min. The mutation also decreased thermal stability and autoproteolysis...

the histone-like protein hu is the most-abundant dna-binding protein in bacteria. the hu protein non-specifically binds and bends dna as a hetero- or homodimer, and can participate in dna supercoiling and dna condensation. it also takes part in dna functions such as replication, recombination, and repair. hu does not recognize any specific sequences but shows a certain degree of specificity to ...

conclusions the established method has an acceptable performance in quantifying yb-1. in addition, serum yb-1 may aid in the diagnosis of hcc. results the developed method was linear to 150 μg/l of yb-1 with a minimum detection limit of 0.01 μg/l. the average recoveries were between 93.9% and 109.0%. the mean intra- and inter-assay coefficients of variation (cvs) were 4.0-4.8% and 8.2-10.2%, re...

Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. CDKL5 mutations have been shown to be more frequent among female patients. Results Here we report a 6- month male patient, second child of a healthy non consanguineous in the Irani...

We report a case of extensive upper-lobe emphysema and lower-lobe pulmonary fibrosis consistent with combined pulmonary fibrosis and emphysema (CPFE) syndrome in a nonsmoker adult patient. Sequence analysis of surfactant protein C gene (SFTPC, MIM 178620) and ATP-binding cassette subfamily A member 3 gene (ABCA3, MIM 601615) identified no mutation in SFTPC gene but compound heterozygosity in AB...