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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-87 Sentence denotes Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.
TextSentencer_T2 88-98 Sentence denotes OBJECTIVE:
TextSentencer_T3 99-280 Sentence denotes To characterize a kindred with a familial neurodegenerative disorder associated with a mutation in progranulin (PGRN), with emphasis on the unique clinical features in this kindred.
TextSentencer_T4 281-288 Sentence denotes DESIGN:
TextSentencer_T5 289-388 Sentence denotes Antemortem and postmortem characterization of a kindred with a familial neurodegenerative disorder.
TextSentencer_T6 389-397 Sentence denotes SETTING:
TextSentencer_T7 398-443 Sentence denotes Multispecialty group academic medical center.
TextSentencer_T8 444-453 Sentence denotes PATIENTS:
TextSentencer_T9 454-569 Sentence denotes Affected members of a kindred with dementia with or without parkinsonism associated with a unique mutation in PGRN.
TextSentencer_T10 570-591 Sentence denotes MAIN OUTCOME MEASURE:
TextSentencer_T11 592-623 Sentence denotes Genotype-phenotype correlation.
TextSentencer_T12 624-632 Sentence denotes RESULTS:
TextSentencer_T13 633-808 Sentence denotes Of 10 affected individuals identified, 6 presented with early amnestic symptoms which resulted in initial diagnoses of Alzheimer disease or amnestic mild cognitive impairment.
TextSentencer_T14 809-892 Sentence denotes Some individuals presented with features characteristic of frontotemporal dementia.
TextSentencer_T15 893-1043 Sentence denotes Mean age at onset was substantially younger in generation III (75.8 years; range, 69-80 years) than in generation II (60.7 years; range, 55-66 years).
TextSentencer_T16 1044-1118 Sentence denotes The pattern of cerebral atrophy varied widely in the affected individuals.
TextSentencer_T17 1119-1295 Sentence denotes Neuropathologic features in 6 individuals included frontotemporal lobar degeneration with ubiquitin-positive neuronal cytoplasmic and intranuclear inclusions (FTLD-U with NII).
TextSentencer_T18 1296-1496 Sentence denotes PGRN analysis revealed a single base pair deletion in exon 2 (c.154delA), which caused a frameshift (p.Thr52HisfsX2) and, therefore, creation of a premature termination codon and a likely null allele.
TextSentencer_T19 1497-1509 Sentence denotes CONCLUSIONS:
TextSentencer_T20 1510-1753 Sentence denotes In this large kindred, most affected individuals had clinical presentations that resembled Alzheimer disease or amnestic mild cognitive impairment associated with a mutation in PGRN and underlying FTLD-U with NII neuropathologic abnormalities.
TextSentencer_T21 1754-1904 Sentence denotes This finding is in distinct contrast to previously reported kindreds, in which clinical presentations have typically been within the spectrum of FTLD.
TextSentencer_T22 1905-1999 Sentence denotes The basis for the large difference in age at onset between generations requires further study.
T1 0-87 Sentence denotes Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.
T2 88-98 Sentence denotes OBJECTIVE:
T3 99-280 Sentence denotes To characterize a kindred with a familial neurodegenerative disorder associated with a mutation in progranulin (PGRN), with emphasis on the unique clinical features in this kindred.
T4 281-288 Sentence denotes DESIGN:
T5 289-388 Sentence denotes Antemortem and postmortem characterization of a kindred with a familial neurodegenerative disorder.
T6 389-397 Sentence denotes SETTING:
T7 398-443 Sentence denotes Multispecialty group academic medical center.
T8 444-453 Sentence denotes PATIENTS:
T9 454-569 Sentence denotes Affected members of a kindred with dementia with or without parkinsonism associated with a unique mutation in PGRN.
T10 570-591 Sentence denotes MAIN OUTCOME MEASURE:
T11 592-623 Sentence denotes Genotype-phenotype correlation.
T12 624-632 Sentence denotes RESULTS:
T13 633-808 Sentence denotes Of 10 affected individuals identified, 6 presented with early amnestic symptoms which resulted in initial diagnoses of Alzheimer disease or amnestic mild cognitive impairment.
T14 809-892 Sentence denotes Some individuals presented with features characteristic of frontotemporal dementia.
T15 893-1043 Sentence denotes Mean age at onset was substantially younger in generation III (75.8 years; range, 69-80 years) than in generation II (60.7 years; range, 55-66 years).
T16 1044-1118 Sentence denotes The pattern of cerebral atrophy varied widely in the affected individuals.
T17 1119-1295 Sentence denotes Neuropathologic features in 6 individuals included frontotemporal lobar degeneration with ubiquitin-positive neuronal cytoplasmic and intranuclear inclusions (FTLD-U with NII).
T18 1296-1496 Sentence denotes PGRN analysis revealed a single base pair deletion in exon 2 (c.154delA), which caused a frameshift (p.Thr52HisfsX2) and, therefore, creation of a premature termination codon and a likely null allele.
T19 1497-1509 Sentence denotes CONCLUSIONS:
T20 1510-1753 Sentence denotes In this large kindred, most affected individuals had clinical presentations that resembled Alzheimer disease or amnestic mild cognitive impairment associated with a mutation in PGRN and underlying FTLD-U with NII neuropathologic abnormalities.
T21 1754-1904 Sentence denotes This finding is in distinct contrast to previously reported kindreds, in which clinical presentations have typically been within the spectrum of FTLD.
T22 1905-1999 Sentence denotes The basis for the large difference in age at onset between generations requires further study.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1687-1691 gene:2896 denotes PGRN
T1 1601-1618 disease:C0002395 denotes Alzheimer disease
T2 1687-1691 gene:2896 denotes PGRN
T3 1631-1656 disease:C1270972 denotes mild cognitive impairment
T4 1687-1691 gene:2896 denotes PGRN
T5 1707-1711 disease:C0751072 denotes FTLD
R1 T0 T1 associated_with PGRN,Alzheimer disease
R2 T2 T3 associated_with PGRN,mild cognitive impairment
R3 T4 T5 associated_with PGRN,FTLD

Allie

Id Subject Object Predicate Lexical cue
SS1_20142525_2_0 198-209 expanded denotes progranulin
SS2_20142525_2_0 211-215 abbr denotes PGRN
AE1_20142525_2_0 SS1_20142525_2_0 SS2_20142525_2_0 abbreviatedTo progranulin,PGRN

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
20142525-0#53#62#geners63751092 53-62 geners63751092 denotes c.154delA
20142525-0#0#17#diseaseC0002395 0-17 diseaseC0002395 denotes Alzheimer disease
53#62#geners637510920#17#diseaseC0002395 20142525-0#53#62#geners63751092 20142525-0#0#17#diseaseC0002395 associated_with c.154delA,Alzheimer disease

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20142525-0#75#86#gene2896 75-86 gene2896 denotes progranulin
20142525-0#0#17#diseaseC0002395 0-17 diseaseC0002395 denotes Alzheimer disease
20142525-1#99#110#gene2896 198-209 gene2896 denotes progranulin
20142525-1#112#116#gene2896 211-215 gene2896 denotes PGRN
20142525-1#42#68#diseaseC0524851 141-167 diseaseC0524851 denotes neurodegenerative disorder
20142525-12#177#181#gene2896 1687-1691 gene2896 denotes PGRN
20142525-12#121#146#diseaseC1270972 1631-1656 diseaseC1270972 denotes mild cognitive impairment
20142525-4#110#114#gene2896 564-568 gene2896 denotes PGRN
20142525-4#110#114#gene2896 564-568 gene2896 denotes PGRN
20142525-4#35#43#diseaseC0011265 489-497 diseaseC0011265 denotes dementia
20142525-4#35#43#diseaseC0497327 489-497 diseaseC0497327 denotes dementia
20142525-4#60#72#diseaseC0242422 514-526 diseaseC0242422 denotes parkinsonism
75#86#gene28960#17#diseaseC0002395 20142525-0#75#86#gene2896 20142525-0#0#17#diseaseC0002395 associated_with progranulin,Alzheimer disease
99#110#gene289642#68#diseaseC0524851 20142525-1#99#110#gene2896 20142525-1#42#68#diseaseC0524851 associated_with progranulin,neurodegenerative disorder
112#116#gene289642#68#diseaseC0524851 20142525-1#112#116#gene2896 20142525-1#42#68#diseaseC0524851 associated_with PGRN,neurodegenerative disorder
177#181#gene2896121#146#diseaseC1270972 20142525-12#177#181#gene2896 20142525-12#121#146#diseaseC1270972 associated_with PGRN,mild cognitive impairment
110#114#gene289635#43#diseaseC0011265 20142525-4#110#114#gene2896 20142525-4#35#43#diseaseC0011265 associated_with PGRN,dementia
110#114#gene289635#43#diseaseC0497327 20142525-4#110#114#gene2896 20142525-4#35#43#diseaseC0497327 associated_with PGRN,dementia
110#114#gene289660#72#diseaseC0242422 20142525-4#110#114#gene2896 20142525-4#60#72#diseaseC0242422 associated_with PGRN,parkinsonism
110#114#gene289635#43#diseaseC0011265 20142525-4#110#114#gene2896 20142525-4#35#43#diseaseC0011265 associated_with PGRN,dementia
110#114#gene289635#43#diseaseC0497327 20142525-4#110#114#gene2896 20142525-4#35#43#diseaseC0497327 associated_with PGRN,dementia
110#114#gene289660#72#diseaseC0242422 20142525-4#110#114#gene2896 20142525-4#60#72#diseaseC0242422 associated_with PGRN,parkinsonism

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T1185 564-568 gene:2896 denotes PGRN
T1186 489-497 disease:C0011265 denotes dementia
R1 T1185 T1186 associated_with PGRN,dementia
R2 T1185 T1186 associated_with PGRN,dementia

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1228-1236 http://purl.obolibrary.org/obo/UBERON_2000602 denotes neuronal