Browsing by Subject "bioinformatics"
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Article
2nd combined working group and management committee meeting of urine and kidney proteomics COST action 29-30 March 2009, Nafplio, Greece
(2009)EuroKUP (Urine and Kidney Proteomics
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DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome
(2014)X-linked Alport syndrome is a form of progressive renal failure caused by pathogenic variants in the COL4A5 gene. More than 700 variants have been described and a further 400 are estimated to be known to individual ...
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Article
Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities
(2015)MicroRNA haploinsufficiency has been associated with developmental defects in only a limited number of cases. Here we report a de novo genomic microdeletion that includes the LINGO2 gene as well as two microRNA genes, ...
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A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy
(2012)Heparin binding epidermal growth factor (HBEGF) is expressed in podocytes and was shown to play a role in glomerular physiology. MicroRNA binding sites on the 3′UTR of HBEGF were predicted using miRWalk algorithm and ...
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Article
The pathogenic properties of a novel and conserved gene product, KerV, in proteobacteria
(2009)Identification of novel virulence factors is essential for understanding bacterial pathogenesis and designing antibacterial strategies. In this study, we uncover such a factor, termed KerV, in Proteobacteria. Experiments ...