Cystic Fibrosis is an autosomal recessive disorder caused by mutations in the CFTR gene. CRISPR mediated, template-dependent homology-directed gene editing has been used to correct the most common mutation, c.1521_1523delCTT / p.Phe508del (F508del) which affects ~70% of individuals, but the efficiency was relatively low. Here, we describe a high efficiency strategy for editing of three differen...

Variable levels of aberrantly spliced cystic fibrosis transmembrane conductance regulator (CFTR ) transcripts were suggested to correlate with variable cystic fibrosis (CF) severity. We studied the effect of the cellular splicing factors, hnRNP A1 and ASF/SF2, and their adenoviral analogues, E4-ORF6 and E4-ORF3, that promote exon skipping and/or exon inclusion, on the splicing pattern of the CF...

Cystic fibrosis is a common hereditary autosomal recessive disease characterized by pronounced genetic heterogeneity, associated clinical polymorphism, severe course and prognosis. The occurs worldwide in representatives of various populations ethnic groups, with equal frequency among the male female population. molecular pathogenesis based on disturbances synthesis, structure function cystic t...

The aim of this study was to identify the relative age effect (RAE) in young Polish male (n = 3849) and female (n = 3419) basketball players aged 14 to 22 years competing in the elite games of the Polish Youth Championships. The distribution of birth dates, body height, players' match statistics, and the results of teams participating in championships were identified. The RAE was observed in ma...

Arterial stiffness normally increases with age and has been established as a precursor of cardiovascular disease. Interleukin-6 is a pleiotropic inflammatory cytokine with an important role in the inflammatory cascade, such as up-regulation of C-reactive protein (CRP). The interleukin-6-174-G/C promoter polymorphism appears to influence levels of inflammatory markers, which have been shown to b...

We have tested 144 unrelated Jewish patients suffering from the classical form of cystic fibrosis. The patients were screened for a panel of 12 mutations including the six Ashkenazi founder mutations (DeltaF508, W1282X, N1303K, G542X, 3849 + 10 kb C-->T, 1717-1G > A) and six mutations that were found in non-Ashkenazi Jewish patients (S549R (T-->G), G85E, 405 + 1G-->A, W1089X, Y1092, and D1152H)...

We used high-throughput RNA sequencing to analyze differential gene and lncRNA expression patterns in the lower thoracic spinal cord during ischemia/reperfusion (I/R)-induced acute kidney injury (AKI) in rats. We observed that of 32662 mRNAs, 4296 out were differentially expressed in the T8-12 segments of the spinal cord upon I/R-induced AKI. Among these, 62 were upregulated and 34 were downreg...

Defects in apoptosis mechanisms play important roles in malignancy and autoimmunity. Orphan nuclear receptor Nur77/ TR3 has been demonstrated to bind antiapoptotic protein Bcl-2 and convert it from a cytoprotective to a cytodestructive protein, representing a phenotypic conversion mechanism. Of the 6 antiapoptotic human Bcl-2 family members, we found that Nur77/TR3 binds strongest to Bcl-B, sho...

PURPOSE Because anthracofibrosis (AF) is associated with tuberculosis (TB), detection of AF is clinically relevant in Korea, a TB endemic region. We thus sought to develop and validate a predictive model for AF using clinical radiographic data. MATERIALS AND METHODS Between January 1, 2008 and March 31, 2014, 3849 adult patients who underwent bronchoscopies were retrospectively included from ...

BACKGROUND Hepatic resection of liver metastases of non-colorectal, non-neuroendocrine, and non-sarcoma (NCNNNS) primary malignancies seems to improve survival in selected patients. The aims of the current review were to describe long-term results of surgery and to evaluate prognostic factors for survival in patients who underwent resection of NCNNNS liver metastases. METHODS We identified 30...