LitCoin-sentences  

PubMed:21976953 JSONTXT 27 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
T1 0-86 Sentence denotes Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome.
T2 87-95 Sentence denotes PURPOSE:
T3 96-199 Sentence denotes To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with Marfan syndrome (MFS).
T4 200-208 Sentence denotes METHODS:
T5 209-311 Sentence denotes Patients and family members were given complete physical, ophthalmic, and cardiovascular examinations.
T6 312-439 Sentence denotes Genomic DNA was extracted from leukocytes of venous blood of six individuals in the family and 170 healthy Chinese individuals.
T7 440-607 Sentence denotes All of the 65 coding exons and their flanking intronic boundaries of FBN1 were amplified in the proband by polymerase chain reaction and followed by direct sequencing.
T8 608-749 Sentence denotes The mutation identified in the proband was screened in the other family members and the 170 healthy Chinese individuals by direct sequencing.
T9 750-839 Sentence denotes Protein conservation analysis was performed in six species using an online ClustalW tool.
T10 840-987 Sentence denotes Protein structure was modeled based on the Protein data bank and mutated in DeepView v4.0.1 to predict the functional consequences of the mutation.
T11 988-996 Sentence denotes RESULTS:
T12 997-1164 Sentence denotes A novel heterozygous c.3703T>C change in exon 29 of FBN1 was detected in the proband, which resulted in the substitution of serine by proline at codon 1235 (p.S1235P).
T13 1165-1309 Sentence denotes This mutation was also present in two family members but absent in the other, unaffected family members and the 170 healthy Chinese individuals.
T14 1310-1503 Sentence denotes The mutant residue located in the calcium binding epidermal growth factor-like#15 domain is highly conserved among mammalian species and could probably induce conformation change of the domain.
T15 1504-1516 Sentence denotes CONCLUSIONS:
T16 1517-1622 Sentence denotes We indentified a novel p.S1235P mutation in FBN1, which is the causative mutation for MFS in this family.
T17 1623-1750 Sentence denotes Our result expands the mutation spectrum of FBN1 and contributes to the study of the molecular pathogenesis of Marfan syndrome.