LitCoin-sentences  

PubMed:21903317 JSONTXT 35 Projects

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Id Subject Object Predicate Lexical cue
T1 0-108 Sentence denotes Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.
T2 109-290 Sentence denotes Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis, which is characterized by death in utero due to kidney failure and pulmonary hypoplasia.
T3 291-435 Sentence denotes The phenotype resembles the fetopathy caused by angiotensin-converting enzyme inhibitor or angiotensin receptor blocker intake during pregnancy.
T4 436-565 Sentence denotes Recently, heterozygous REN mutations were shown to result in early-onset hyperuricemia, anemia, and chronic kidney disease (CKD).
T5 566-639 Sentence denotes To date, only 3 different heterozygous REN mutations have been published.
T6 640-843 Sentence denotes We report mutation analysis of the REN gene in 39 kindreds with hyperuricemia and CKD who previously tested negative for mutations in the UMOD (uromodulin) and HNF1B (hepatocyte nuclear factor 1β) genes.
T7 844-1092 Sentence denotes We identified one kindred with a novel thymidine to cytosine mutation at position 28 in the REN complementary DNA, corresponding to a tryptophan to arginine substitution at amino acid 10, which is found within the signal sequence (c.28T>C; p.W10R).
T8 1093-1176 Sentence denotes On this basis, we conclude that REN mutations are rare events in patients with CKD.
T9 1177-1350 Sentence denotes Within the kindred, we found affected individuals over 4 generations who carried the novel REN mutation and were characterized by significant anemia, hyperuricemia, and CKD.
T10 1351-1432 Sentence denotes Anemia was severe and disproportional to the degree of decreased kidney function.
T11 1433-1691 Sentence denotes Because all heterozygous REN mutations that have been described are localized in the signal sequence, screening of the REN gene for patients with CKD with hyperuricemia and anemia may best be focused on sequencing of exon 1, which encodes the signal peptide.