LitCoin-sentences  

PubMed:19394258 JSONTXT 29 Projects

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Id Subject Object Predicate Lexical cue
T1 0-101 Sentence denotes The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
T2 102-235 Sentence denotes Deoxyguanosine kinase (dGK) deficiency is a frequent cause of mitochondrial DNA depletion associated with a hepatocerebral phenotype.
T3 236-383 Sentence denotes In this study, we describe a new splice site mutation in the DGUOK gene and the clinical, radiologic, and genetic features of these DGUOK patients.
T4 384-603 Sentence denotes This new DGUOK homozygous mutation (c.444-62C>A) was identified in three patients from two North-African consanguineous families with combined respiratory chain deficiencies and mitochondrial DNA depletion in the liver.
T5 604-662 Sentence denotes Brain MRIs are normal in DGUOK patients in the literature.
T6 663-790 Sentence denotes Interestingly, we found subtentorial abnormal myelination and moderate hyperintensity in the bilateral pallidi in our patients.
T7 791-961 Sentence denotes This new mutation creates a cryptic splice site in intron 3 (in position -62) and is predicted to result in a larger protein with an in-frame insertion of 20 amino acids.
T8 962-1200 Sentence denotes In silico analysis of the putative impact of the insertion shows serious clashes in protein conformation: this insertion disrupts the alpha5 helix of the dGK kinase domain, rendering the protein unable to bind purine deoxyribonucleosides.
T9 1201-1418 Sentence denotes In addition, a common haplotype that segregated with the disease in both families was detected by haplotype reconstruction with 10 markers (microsatellites and SNPs), which span 4.6 Mb of DNA covering the DGUOK locus.
T10 1419-1610 Sentence denotes In conclusion, we report a new DGUOK splice site mutation that provide insight into a critical protein domain (dGK kinase domain) and the first founder mutation in a North-African population.