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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-100 Sentence denotes A case of Werner syndrome without metabolic abnormality: implications for the early pathophysiology.
TextSentencer_T2 101-211 Sentence denotes Werner syndrome (WS) is an autosomal recessive progeroid disorder caused by mutations in the WRN DNA helicase.
TextSentencer_T3 212-445 Sentence denotes It is characterized by the graying and loss of hair, juvenile cataracts, sclerosis and ulceration of skin, insulin-resistant diabetes mellitus, dyslipidemia, abdominal adiposity, osteoporosis, atherosclerosis, and malignant neoplasm.
TextSentencer_T4 446-574 Sentence denotes Patients are usually diagnosed in their 30s or 40s, but the early pathophysiology of the syndrome is still not fully understood.
TextSentencer_T5 575-683 Sentence denotes Here we report a 29-year-old female patient who displayed cataracts, hair graying, and tendinous calcinosis.
TextSentencer_T6 684-715 Sentence denotes Her parents were first cousins.
TextSentencer_T7 716-861 Sentence denotes Interestingly, the patient lacked the metabolic signs typical for WS, including glucose intolerance, dyslipidemia, and visceral fat accumulation.
TextSentencer_T8 862-947 Sentence denotes A hyperinsulinemic response at 30 min was observed in an oral glucose tolerance test.
TextSentencer_T9 948-1171 Sentence denotes Mutational analysis for the WRN gene revealed a homozygous nucleotide substitution 3190C>T in exon 24, resulting in a protein product with replacement of an arginine residue at position 573 by termination codon (Arg987Ter).
TextSentencer_T10 1172-1265 Sentence denotes The mutated WRN protein was unable to translocate into the nucleus in an in vitro cell assay.
TextSentencer_T11 1266-1406 Sentence denotes A WS patient with an Arg987Ter mutation has been previously reported in Switzerland, the present case is the first to be identified in Asia.
TextSentencer_T12 1407-1588 Sentence denotes This case demonstrates the early clinical features of WS and suggests that metabolic abnormality, including insulin resistance, is not an essential component of WS at disease onset.
TextSentencer_T13 1589-1736 Sentence denotes Moreover, a follow-up study of such case would be useful to understand how the various clinical symptoms in WS develop and progress over the years.
T1 0-100 Sentence denotes A case of Werner syndrome without metabolic abnormality: implications for the early pathophysiology.
T2 101-211 Sentence denotes Werner syndrome (WS) is an autosomal recessive progeroid disorder caused by mutations in the WRN DNA helicase.
T3 212-445 Sentence denotes It is characterized by the graying and loss of hair, juvenile cataracts, sclerosis and ulceration of skin, insulin-resistant diabetes mellitus, dyslipidemia, abdominal adiposity, osteoporosis, atherosclerosis, and malignant neoplasm.
T4 446-574 Sentence denotes Patients are usually diagnosed in their 30s or 40s, but the early pathophysiology of the syndrome is still not fully understood.
T5 575-683 Sentence denotes Here we report a 29-year-old female patient who displayed cataracts, hair graying, and tendinous calcinosis.
T6 684-715 Sentence denotes Her parents were first cousins.
T7 716-861 Sentence denotes Interestingly, the patient lacked the metabolic signs typical for WS, including glucose intolerance, dyslipidemia, and visceral fat accumulation.
T8 862-947 Sentence denotes A hyperinsulinemic response at 30 min was observed in an oral glucose tolerance test.
T9 948-1171 Sentence denotes Mutational analysis for the WRN gene revealed a homozygous nucleotide substitution 3190C>T in exon 24, resulting in a protein product with replacement of an arginine residue at position 573 by termination codon (Arg987Ter).
T10 1172-1265 Sentence denotes The mutated WRN protein was unable to translocate into the nucleus in an in vitro cell assay.
T11 1266-1406 Sentence denotes A WS patient with an Arg987Ter mutation has been previously reported in Switzerland, the present case is the first to be identified in Asia.
T12 1407-1588 Sentence denotes This case demonstrates the early clinical features of WS and suggests that metabolic abnormality, including insulin resistance, is not an essential component of WS at disease onset.
T13 1589-1736 Sentence denotes Moreover, a follow-up study of such case would be useful to understand how the various clinical symptoms in WS develop and progress over the years.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1515-1522 gene:723961 denotes insulin
T1 1568-1570 disease:C0043119 denotes WS
T2 1515-1522 gene:3630 denotes insulin
T3 1568-1570 disease:C0043119 denotes WS
R1 T0 T1 associated_with insulin,WS
R2 T2 T3 associated_with insulin,WS

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 128-147 HP_0000007 denotes autosomal recessive
T2 251-263 HP_0001596 denotes loss of hair
T3 265-283 HP_0001118 denotes juvenile cataracts
T4 274-283 HP_0000518 denotes cataracts
T5 299-317 HP_0200042 denotes ulceration of skin
T6 319-354 HP_0000831 denotes insulin-resistant diabetes mellitus
T7 319-345 HP_0000831 denotes insulin-resistant diabetes
T8 319-336 HP_0000855 denotes insulin-resistant
T9 337-354 HP_0000819 denotes diabetes mellitus
T10 391-403 HP_0000939 denotes osteoporosis
T11 405-420 HP_0002621 denotes atherosclerosis
T12 436-444 HP_0002664 denotes neoplasm
T13 633-642 HP_0000518 denotes cataracts
T14 672-682 HP_0003761 denotes calcinosis
T15 796-815 HP_0000833 denotes glucose intolerance
T16 1482-1503 HP_0001939 denotes metabolic abnormality
T17 1515-1533 HP_0000855 denotes insulin resistance

Allie

Id Subject Object Predicate Lexical cue
SS1_22188495_1_0 101-116 expanded denotes Werner syndrome
SS2_22188495_1_0 118-120 abbr denotes WS
AE1_22188495_1_0 SS1_22188495_1_0 SS2_22188495_1_0 abbreviatedTo Werner syndrome,WS

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
22188495-9#21#30#geners747319628 1287-1296 geners747319628 denotes Arg987Ter
22188495-9#2#4#diseaseC0043119 1268-1270 diseaseC0043119 denotes WS
21#30#geners7473196282#4#diseaseC0043119 22188495-9#21#30#geners747319628 22188495-9#2#4#diseaseC0043119 associated_with Arg987Ter,WS

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
22188495-1#93#96#gene7486 194-197 gene7486 denotes WRN
22188495-1#0#15#diseaseC0043119 101-116 diseaseC0043119 denotes Werner syndrome
22188495-1#17#19#diseaseC0043119 118-120 diseaseC0043119 denotes WS
93#96#gene74860#15#diseaseC0043119 22188495-1#93#96#gene7486 22188495-1#0#15#diseaseC0043119 associated_with WRN,Werner syndrome
93#96#gene748617#19#diseaseC0043119 22188495-1#93#96#gene7486 22188495-1#17#19#diseaseC0043119 associated_with WRN,WS

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 835-847 http://purl.obolibrary.org/obo/UBERON_0035818 denotes visceral fat

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 265-283 HP:0001118 denotes juvenile cataracts
AB2 319-354 HP:0000831 denotes insulin-resistant diabetes mellitus
AB3 391-403 HP:0000939 denotes osteoporosis
AB4 405-420 HP:0002621 denotes atherosclerosis
AB5 436-444 HP:0002664 denotes neoplasm
AB6 633-642 HP:0000518 denotes cataracts
AB7 672-682 HP:0003761 denotes calcinosis
AB8 796-815 HP:0000833 denotes glucose intolerance
AB9 1515-1533 HP:0000855 denotes insulin resistance

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 101-116 ORDO:902 denotes Werner syndrome
TI1 10-25 ORDO:902 denotes Werner syndrome

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 1031-1038 DNAMutation:g|SUB|C|3190|T denotes 3190C>T
T2 1160-1169 ProteinMutation:p|SUB|R|987|X denotes Arg987Ter
T3 1287-1296 ProteinMutation:p|SUB|R|987|X denotes Arg987Ter