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PubMed:18975016 JSONTXT 9 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-99 Sentence denotes Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS.
T1 0-99 Sentence denotes Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS.
TextSentencer_T2 100-217 Sentence denotes Focal and segmental glomerulosclerosis (FSGS) is the most common glomerular cause of end-stage kidney disease (ESKD).
T2 100-217 Sentence denotes Focal and segmental glomerulosclerosis (FSGS) is the most common glomerular cause of end-stage kidney disease (ESKD).
TextSentencer_T3 218-439 Sentence denotes Although the etiology of FSGS has not been fully elucidated, recent results from the positional cloning of genes mutated in nephrotic syndromes are now beginning to provide insight into the pathogenesis of these diseases.
T3 218-439 Sentence denotes Although the etiology of FSGS has not been fully elucidated, recent results from the positional cloning of genes mutated in nephrotic syndromes are now beginning to provide insight into the pathogenesis of these diseases.
TextSentencer_T4 440-587 Sentence denotes Mutations in PLCE1/NPHS3 have recently been reported as a cause of nephrotic syndrome characterized by diffuse mesangial sclerosis (DMS) histology.
T4 440-587 Sentence denotes Mutations in PLCE1/NPHS3 have recently been reported as a cause of nephrotic syndrome characterized by diffuse mesangial sclerosis (DMS) histology.
TextSentencer_T5 588-692 Sentence denotes One single family with a missense mutation had late onset of the disease that was characterized by FSGS.
T5 588-692 Sentence denotes One single family with a missense mutation had late onset of the disease that was characterized by FSGS.
TextSentencer_T6 693-822 Sentence denotes To further define the role of PLCE1 mutations in the etiology of FSGS, we performed mutational analysis in 69 families with FSGS.
T6 693-822 Sentence denotes To further define the role of PLCE1 mutations in the etiology of FSGS, we performed mutational analysis in 69 families with FSGS.
TextSentencer_T7 823-890 Sentence denotes A total of 69 families with 231 affected individuals were examined.
T7 823-890 Sentence denotes A total of 69 families with 231 affected individuals were examined.
TextSentencer_T8 891-955 Sentence denotes The median age of disease onset was 26 years (range 1-66 years).
T8 891-955 Sentence denotes The median age of disease onset was 26 years (range 1-66 years).
TextSentencer_T9 956-1004 Sentence denotes Onset of ESKD was at a median age of 35.5 years.
T9 956-1004 Sentence denotes Onset of ESKD was at a median age of 35.5 years.
TextSentencer_T10 1005-1153 Sentence denotes Seven variants leading to non-synonymous changes were found, of which only two are new variants (exon 4 c.1682 G>A R561Q, exon 31 c.6518A>G K2173R).
T10 1005-1153 Sentence denotes Seven variants leading to non-synonymous changes were found, of which only two are new variants (exon 4 c.1682 G>A R561Q, exon 31 c.6518A>G K2173R).
TextSentencer_T11 1154-1230 Sentence denotes No known disease-causing mutations were identified in the families screened.
T11 1154-1230 Sentence denotes No known disease-causing mutations were identified in the families screened.
TextSentencer_T12 1231-1292 Sentence denotes PLCE1/NPHS3 mutations are not a cause of FSGS in this cohort.
T12 1231-1292 Sentence denotes PLCE1/NPHS3 mutations are not a cause of FSGS in this cohort.
TextSentencer_T13 1293-1458 Sentence denotes The absence of mutations in PLCE1/NPHS3 in this study indicates that there are additional genetic causes of FSGS and that hereditary FSGS is a heterogeneous disease.
T13 1293-1458 Sentence denotes The absence of mutations in PLCE1/NPHS3 in this study indicates that there are additional genetic causes of FSGS and that hereditary FSGS is a heterogeneous disease.
TextSentencer_T14 1459-1605 Sentence denotes Kindreds appropriate for genome-wide screening are currently being subjected to analysis with the aim of identifying other genetic causes of FSGS.
T14 1459-1605 Sentence denotes Kindreds appropriate for genome-wide screening are currently being subjected to analysis with the aim of identifying other genetic causes of FSGS.