LitCoin-sentences  

PubMed:15069170 JSONTXT 41 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
T1 0-119 Sentence denotes Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.
T2 120-131 Sentence denotes BACKGROUND:
T3 132-289 Sentence denotes Gitelman's syndrome (GS) is an autosomal recessive disorder resulting from inactivating mutations in the thiazide-sensitive Na-Cl co-transporter (NCCT) gene.
T4 290-340 Sentence denotes To date, almost 90 mutations have been identified.
T5 341-418 Sentence denotes It is possible that there is a population-specific distribution of mutations.
T6 419-508 Sentence denotes In this study, we analysed mutations in the NCCT gene of seven Japanese patients with GS.
T7 509-517 Sentence denotes METHODS:
T8 518-640 Sentence denotes Peripheral blood mononuclear cells were isolated from patients with GS, their family members and healthy control subjects.
T9 641-786 Sentence denotes A mutation analysis of the NCCT gene was performed completely by direct automated sequencing of polymerase chain reaction-amplified DNA products.
T10 787-876 Sentence denotes In patients with a deletion or splice site mutation, we undertook cDNA sequence analysis.
T11 877-885 Sentence denotes RESULTS:
T12 886-915 Sentence denotes We identified nine mutations.
T13 916-1124 Sentence denotes Five of them [c.185C>T (Thr60Met), c.1712C>T (Ala569Val), c.1930C>T (Arg642Cys), c.2552T>A (Leu849His) and c.1932delC] have been reported in Japanese patients, but not in GS patients from other ethnic groups.
T14 1125-1238 Sentence denotes The remaining four mutations [c.7A>T (Met1Leu), c.1181_1186+20del26, c.1811_1812delAT and IVS16+1G>A] were novel.
T15 1239-1372 Sentence denotes In cDNA derived from a patient with c.1181_1186+20del26, a deletion of exon 9 and a frameshift at the start of exon 10 were observed.
T16 1373-1487 Sentence denotes In cDNA derived from patients with IVS16+1G>A, an additional 96 bp insertion between exons 16 and 17 was observed.
T17 1488-1604 Sentence denotes Six out of seven patients were compound heterozygotes, and the remaining one carried a single heterozygous mutation.
T18 1605-1617 Sentence denotes CONCLUSIONS:
T19 1618-1700 Sentence denotes We found four novel mutations in the NCCT gene in seven Japanese patients with GS.
T20 1701-1857 Sentence denotes Moreover, our study suggests that the distribution of mutations in the NCCT gene in Japanese GS patients potentially differs from that in other populations.