LitCoin-sentences  

PubMed:19508969 JSONTXT 27 Projects

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Id Subject Object Predicate Lexical cue
T1 0-100 Sentence denotes Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
T2 101-112 Sentence denotes BACKGROUND:
T3 113-267 Sentence denotes Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults.
T4 268-323 Sentence denotes Mutations in nine genes (NPHP1-9) have been identified.
T5 324-471 Sentence denotes NPHP can be associated with retinal degeneration (Senior-Løken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis.
T6 472-480 Sentence denotes METHODS:
T7 481-727 Sentence denotes To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping.
T8 728-736 Sentence denotes RESULTS:
T9 737-927 Sentence denotes The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67.
T10 928-1132 Sentence denotes When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.
T11 1133-1288 Sentence denotes Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations.
T12 1289-1417 Sentence denotes In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations.
T13 1418-1559 Sentence denotes This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype.
T14 1560-1758 Sentence denotes Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis.
T15 1759-1771 Sentence denotes CONCLUSIONS:
T16 1772-1846 Sentence denotes Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11).
T17 1847-1958 Sentence denotes This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs.
T18 1959-2012 Sentence denotes Thus NPHP, JBTS, and MKS represent allelic disorders.