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PubMed:15851735 JSONTXT 12 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-97 Sentence denotes Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation.
T1 0-97 Sentence denotes Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation.
TextSentencer_T2 98-109 Sentence denotes BACKGROUND:
T2 98-109 Sentence denotes BACKGROUND:
TextSentencer_T3 110-197 Sentence denotes Classic neonatal-onset glycine encephalopathy (GE) is devastating and life threatening.
T3 110-197 Sentence denotes Classic neonatal-onset glycine encephalopathy (GE) is devastating and life threatening.
TextSentencer_T4 198-297 Sentence denotes Milder, later onset variants have been reported but were usually sporadic and incompletely defined.
T4 198-297 Sentence denotes Milder, later onset variants have been reported but were usually sporadic and incompletely defined.
TextSentencer_T5 298-308 Sentence denotes OBJECTIVE:
T5 298-308 Sentence denotes OBJECTIVE:
TextSentencer_T6 309-455 Sentence denotes To determine the clinical and biochemical phenotype and molecular basis of mild GE in nine children from a consanguineous Israeli Bedouin kindred.
T6 309-455 Sentence denotes To determine the clinical and biochemical phenotype and molecular basis of mild GE in nine children from a consanguineous Israeli Bedouin kindred.
TextSentencer_T7 456-464 Sentence denotes METHODS:
T7 456-464 Sentence denotes METHODS:
TextSentencer_T8 465-529 Sentence denotes Genomic DNA was screened for GLDC, AMT, and GCSH gene mutations.
T8 465-529 Sentence denotes Genomic DNA was screened for GLDC, AMT, and GCSH gene mutations.
TextSentencer_T9 530-630 Sentence denotes GLDC expression in lymphoblasts was studied by Northern blot and reverse transcriptase PCR analysis.
T9 530-630 Sentence denotes GLDC expression in lymphoblasts was studied by Northern blot and reverse transcriptase PCR analysis.
TextSentencer_T10 631-639 Sentence denotes RESULTS:
T10 631-639 Sentence denotes RESULTS:
TextSentencer_T11 640-848 Sentence denotes Clinical features included hypotonia, abnormal movements, convulsions, and moderate mental retardation with relative sparing of gross motor function, activities of daily living skills, and receptive language.
T11 640-848 Sentence denotes Clinical features included hypotonia, abnormal movements, convulsions, and moderate mental retardation with relative sparing of gross motor function, activities of daily living skills, and receptive language.
TextSentencer_T12 849-892 Sentence denotes Aggression and irritability were prominent.
T12 849-892 Sentence denotes Aggression and irritability were prominent.
TextSentencer_T13 893-955 Sentence denotes CSF-to-plasma glycine ratio was mildly to moderately elevated.
T13 893-955 Sentence denotes CSF-to-plasma glycine ratio was mildly to moderately elevated.
TextSentencer_T14 956-1093 Sentence denotes All nine patients were homozygous and their parents heterozygous for a novel, translationally silent GLDC exon 22 transversion c.2607C>A.
T14 956-1093 Sentence denotes All nine patients were homozygous and their parents heterozygous for a novel, translationally silent GLDC exon 22 transversion c.2607C>A.
TextSentencer_T15 1094-1149 Sentence denotes Lymphoblast GLDC mRNA levels were considerably reduced.
T15 1094-1149 Sentence denotes Lymphoblast GLDC mRNA levels were considerably reduced.
TextSentencer_T16 1150-1287 Sentence denotes Three aberrantly spliced cDNA species were identified: exon 22 and exon 22 to 23 skipping, and insertion of an 87-base pair cryptic exon.
T16 1150-1287 Sentence denotes Three aberrantly spliced cDNA species were identified: exon 22 and exon 22 to 23 skipping, and insertion of an 87-base pair cryptic exon.
TextSentencer_T17 1288-1457 Sentence denotes Homozygosity for c.2607C>A was also identified in an unrelated but haplotypically identical patient with an unusually favorable outcome despite severe neonatal-onset GE.
T17 1288-1457 Sentence denotes Homozygosity for c.2607C>A was also identified in an unrelated but haplotypically identical patient with an unusually favorable outcome despite severe neonatal-onset GE.
TextSentencer_T18 1458-1552 Sentence denotes Mutation analysis enabled prenatal diagnosis of three unaffected and one affected pregnancies.
T18 1458-1552 Sentence denotes Mutation analysis enabled prenatal diagnosis of three unaffected and one affected pregnancies.
TextSentencer_T19 1553-1565 Sentence denotes CONCLUSIONS:
T19 1553-1565 Sentence denotes CONCLUSIONS:
TextSentencer_T20 1566-1666 Sentence denotes The mutation in this kindred led to missplicing and reduced GLDC (glycine decarboxylase) expression.
T20 1566-1666 Sentence denotes The mutation in this kindred led to missplicing and reduced GLDC (glycine decarboxylase) expression.
TextSentencer_T21 1667-1844 Sentence denotes The 4 to 6% of normally spliced GLDC mRNA in the patients may account for their relatively favorable clinical outcome compared with patients with classic glycine encephalopathy.
T21 1667-1844 Sentence denotes The 4 to 6% of normally spliced GLDC mRNA in the patients may account for their relatively favorable clinical outcome compared with patients with classic glycine encephalopathy.