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PubMed:20529581 JSONTXT 14 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
T1 0-90 Sentence denotes A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient.
T1 0-90 Sentence denotes A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient.
T2 91-102 Sentence denotes BACKGROUND:
T2 91-102 Sentence denotes BACKGROUND:
T3 103-471 Sentence denotes Leukocyte adhesion deficiency type 1 (LAD-1) is a rare, autosomal recessive inherited immunodeficiency disease characterized by recurrent severe bacterial infection, impaired pus formation, poor wound healing, associated with the mutation in the CD18 gene responsible for the ability of the leucocytes to migrate from the blood stream towards the site of inflammation.
T3 103-471 Sentence denotes Leukocyte adhesion deficiency type 1 (LAD-1) is a rare, autosomal recessive inherited immunodeficiency disease characterized by recurrent severe bacterial infection, impaired pus formation, poor wound healing, associated with the mutation in the CD18 gene responsible for the ability of the leucocytes to migrate from the blood stream towards the site of inflammation.
T4 472-586 Sentence denotes Correct and early diagnosis of LAD-1 is vital to the success of treatment and prevention of aggressive infections.
T4 472-586 Sentence denotes Correct and early diagnosis of LAD-1 is vital to the success of treatment and prevention of aggressive infections.
T5 587-700 Sentence denotes The purpose of this study was to collect the clinical findings of the disease and to identify the genetic entity.
T5 587-700 Sentence denotes The purpose of this study was to collect the clinical findings of the disease and to identify the genetic entity.
T6 701-843 Sentence denotes METHODS: CD18 expression in the peripheral blood leukocytes from the patient, his parents and normal control was measured with flow cytometry.
T6 701-843 Sentence denotes METHODS: CD18 expression in the peripheral blood leukocytes from the patient, his parents and normal control was measured with flow cytometry.
T7 844-936 Sentence denotes The entire coding regions of the CD18 gene were screened with direct sequencing genomic DNA.
T7 844-936 Sentence denotes The entire coding regions of the CD18 gene were screened with direct sequencing genomic DNA.
T8 937-1091 Sentence denotes RESULTS: CD18 expression level on this patient's leukocyte surface was significantly decreased, with normal level in control group, his father and mother.
T8 937-1091 Sentence denotes RESULTS: CD18 expression level on this patient's leukocyte surface was significantly decreased, with normal level in control group, his father and mother.
T9 1092-1264 Sentence denotes Gene analysis revealed that this patient had a homozygous c.899A > T missense mutation in exon 8 of CD18 gene, causing the substitution of Asp to Val at the 300 amino acid.
T9 1092-1264 Sentence denotes Gene analysis revealed that this patient had a homozygous c.899A > T missense mutation in exon 8 of CD18 gene, causing the substitution of Asp to Val at the 300 amino acid.
T10 1265-1364 Sentence denotes His parents were both heterozygous carriers while no such mutation was found in 50 normal controls.
T10 1265-1364 Sentence denotes His parents were both heterozygous carriers while no such mutation was found in 50 normal controls.
T11 1365-1376 Sentence denotes CONCLUSION:
T11 1365-1376 Sentence denotes CONCLUSION:
T12 1377-1654 Sentence denotes This study disclosed a novel point mutation Asp 300 Val located in a highly conserved region (HCR) of CD18 and confirmed the heterogeneity of the mutations causing LAD-1, indicating it was quite beneficial to establish correct and early diagnosis in children with severe LAD-1.
T12 1377-1654 Sentence denotes This study disclosed a novel point mutation Asp 300 Val located in a highly conserved region (HCR) of CD18 and confirmed the heterogeneity of the mutations causing LAD-1, indicating it was quite beneficial to establish correct and early diagnosis in children with severe LAD-1.