LitCoin-sentences  

PubMed:19365571 JSONTXT 29 Projects

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Id Subject Object Predicate Lexical cue
T1 0-84 Sentence denotes Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6.
T2 85-93 Sentence denotes PURPOSE:
T3 94-296 Sentence denotes To identify mutations in the carbohydrate sulfotransferase gene (CHST6) for a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes in the affected cornea.
T4 297-305 Sentence denotes METHODS:
T5 306-379 Sentence denotes A corneal button of the proband was obtained by penetrating keratoplasty.
T6 380-553 Sentence denotes The half button and ultrathin sections from the other half button were examined with special stains under a light microscope (LM) and an electron microscope (EM) separately.
T7 554-715 Sentence denotes Genomic DNA was extracted from peripheral blood of 11 family members, and the coding region of CHST6 was amplified by the polymerase chain reaction (PCR) method.
T8 716-801 Sentence denotes The PCR products were analyzed by direct sequencing and restriction enzyme digestion.
T9 802-810 Sentence denotes RESULTS:
T10 811-942 Sentence denotes The positive reaction to colloidal iron stain (extracellular blue accumulations in the stroma) was detected under light microscopy.
T11 943-1079 Sentence denotes Transmission electron microscopy revealed the enlargement of smooth endoplasmic reticulum and the presence of intracytoplasmic vacuoles.
T12 1080-1194 Sentence denotes The compound heterozygous mutations, c.892C>T and c.1072T>C, were identified in exon 3 of CHST6 in three patients.
T13 1195-1369 Sentence denotes The two transversions resulted in the substitution of a stop codon for glutamine at codon 298 (p.Q298X) and a missense mutation at codon 358, tyrosine to histidine (p.Y358H).
T14 1370-1451 Sentence denotes The six unaffected family individuals carried alternative heterozygous mutations.
T15 1452-1525 Sentence denotes These two mutations were not detected in any of the 100 control subjects.
T16 1526-1538 Sentence denotes CONCLUSIONS:
T17 1539-1740 Sentence denotes Those novel compound heterozygous mutations were thought to contribute to the loss of CHST6 function, which induced the abnormal metabolism of keratan sulfate (KS) that deposited in the corneal stroma.
T18 1741-1895 Sentence denotes It could be proved by the observation of a positive stain reaction and the enlarged collagen fibers as well as hyperplastic fibroblasts under microscopes.