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PubMed:20529581 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-90 Sentence denotes A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient.
TextSentencer_T2 91-102 Sentence denotes BACKGROUND:
TextSentencer_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.
TextSentencer_T4 472-586 Sentence denotes Correct and early diagnosis of LAD-1 is vital to the success of treatment and prevention of aggressive infections.
TextSentencer_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.
TextSentencer_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.
TextSentencer_T7 844-936 Sentence denotes The entire coding regions of the CD18 gene were screened with direct sequencing genomic DNA.
TextSentencer_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.
TextSentencer_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.
TextSentencer_T10 1265-1364 Sentence denotes His parents were both heterozygous carriers while no such mutation was found in 50 normal controls.
TextSentencer_T11 1365-1376 Sentence denotes CONCLUSION:
TextSentencer_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.
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:
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.
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.
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.
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.
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.

Inflammaging

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.
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.
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.
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.
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.
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:
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.
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:
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.
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.
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.
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.
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.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 26-30 gene:4055 denotes CD18
T1 39-68 disease:C0272187 denotes leukocyte adhesion deficiency
T2 26-30 gene:3689 denotes CD18
T3 39-68 disease:C0272187 denotes leukocyte adhesion deficiency
T4 349-353 gene:3689 denotes CD18
T5 103-139 disease:C0398738 denotes Leukocyte adhesion deficiency type 1
T6 349-353 gene:4055 denotes CD18
T7 103-139 disease:C0398738 denotes Leukocyte adhesion deficiency type 1
T8 1479-1483 gene:3689 denotes CD18
T9 1648-1653 disease:C0398738 denotes LAD-1
T10 1479-1483 gene:3689 denotes CD18
T11 1541-1546 disease:C0398738 denotes LAD-1
R1 T0 T1 associated_with CD18,leukocyte adhesion deficiency
R2 T2 T3 associated_with CD18,leukocyte adhesion deficiency
R3 T4 T5 associated_with CD18,Leukocyte adhesion deficiency type 1
R4 T6 T7 associated_with CD18,Leukocyte adhesion deficiency type 1
R5 T8 T9 associated_with CD18,LAD-1
R6 T10 T11 associated_with CD18,LAD-1

Allie

Id Subject Object Predicate Lexical cue
SS1_20529581_2_0 103-139 expanded denotes Leukocyte adhesion deficiency type 1
SS2_20529581_2_0 141-146 abbr denotes LAD-1
SS1_20529581_13_0 1446-1469 expanded denotes highly conserved region
SS2_20529581_13_0 1471-1474 abbr denotes HCR
AE1_20529581_2_0 SS1_20529581_2_0 SS2_20529581_2_0 abbreviatedTo Leukocyte adhesion deficiency type 1,LAD-1
AE1_20529581_13_0 SS1_20529581_13_0 SS2_20529581_13_0 abbreviatedTo highly conserved region,HCR

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 159-188 HP_0000007 denotes autosomal recessive inherited
T2 159-178 HP_0000007 denotes autosomal recessive
T3 189-205 HP_0002721 denotes immunodeficiency
T4 293-311 HP_0001058 denotes poor wound healing
T5 564-574 HP_0000718 denotes aggressive

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
20529581-9#44#55#geners179363874 1421-1432 geners179363874 denotes Asp 300 Val
20529581-9#164#169#diseaseC0398738 1541-1546 diseaseC0398738 denotes LAD-1
20529581-9#271#276#diseaseC0398738 1648-1653 diseaseC0398738 denotes LAD-1
44#55#geners179363874164#169#diseaseC0398738 20529581-9#44#55#geners179363874 20529581-9#164#169#diseaseC0398738 associated_with Asp 300 Val,LAD-1
44#55#geners179363874271#276#diseaseC0398738 20529581-9#44#55#geners179363874 20529581-9#271#276#diseaseC0398738 associated_with Asp 300 Val,LAD-1

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20529581-9#102#106#gene3689 1479-1483 gene3689 denotes CD18
20529581-9#164#169#diseaseC0398738 1541-1546 diseaseC0398738 denotes LAD-1
20529581-9#271#276#diseaseC0398738 1648-1653 diseaseC0398738 denotes LAD-1
102#106#gene3689164#169#diseaseC0398738 20529581-9#102#106#gene3689 20529581-9#164#169#diseaseC0398738 associated_with CD18,LAD-1
102#106#gene3689271#276#diseaseC0398738 20529581-9#102#106#gene3689 20529581-9#271#276#diseaseC0398738 associated_with CD18,LAD-1

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 278-281 http://purl.obolibrary.org/obo/UBERON_0000177 denotes pus
PD-UBERON-AE-B_T2 425-430 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T3 744-749 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 189-205 HP:0002721 denotes immunodeficiency
AB2 293-311 HP:0001058 denotes poor wound healing

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 103-132 ORDO:2968 denotes Leukocyte adhesion deficiency
AB2 141-144 ORDO:2968 denotes LAD
TI1 39-68 ORDO:2968 denotes leukocyte adhesion deficiency
AB3 503-506 ORDO:2968 denotes LAD
AB4 1231-1234 ORDO:63442 denotes Asp
AB5 1421-1424 ORDO:63442 denotes Asp
AB6 1541-1544 ORDO:2968 denotes LAD
AB7 1648-1651 ORDO:2968 denotes LAD

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 425-430 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T2 744-749 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T3 278-281 http://purl.obolibrary.org/obo/UBERON_0000177 denotes pus

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 1150-1160 DNAMutation:c|SUB|A|899|T denotes c.899A > T
T2 1421-1432 ProteinMutation:p|SUB|D|300|V denotes Asp 300 Val