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PubMed:20153822 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-116 Sentence denotes Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.
TextSentencer_T2 117-209 Sentence denotes Mitochondrial DNA polymerase, POLG, is the sole DNA polymerase found in animal mitochondria.
TextSentencer_T3 210-379 Sentence denotes In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland.
TextSentencer_T4 380-484 Sentence denotes We investigated the biochemical phenotypes of the W748S amino acid change, using recombinant human POLG.
TextSentencer_T5 485-645 Sentence denotes We measured processive and non-processive DNA polymerase activity, DNA binding affinity, enzyme processivity, and subunit interaction with recombinant POLGbeta.
TextSentencer_T6 646-777 Sentence denotes In addition, we studied the effects of the W748S and E1143G mutations in primary human cell cultures using retroviral transduction.
TextSentencer_T7 778-885 Sentence denotes Here, we examined cell viability, mitochondrial DNA copy number, and products of mitochondrial translation.
TextSentencer_T8 886-1100 Sentence denotes Our results indicate that the W748S mutant POLGalpha does not exhibit a clear biochemical phenotype, making it indistinguishable from wild type POLGalpha and as such, fail to replicate previously published results.
TextSentencer_T9 1101-1229 Sentence denotes Furthermore, results from the cell models were concurrent with the findings from patients, and support our biochemical findings.
T1 0-116 Sentence denotes Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.
T2 117-209 Sentence denotes Mitochondrial DNA polymerase, POLG, is the sole DNA polymerase found in animal mitochondria.
T3 210-379 Sentence denotes In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland.
T4 380-484 Sentence denotes We investigated the biochemical phenotypes of the W748S amino acid change, using recombinant human POLG.
T5 485-645 Sentence denotes We measured processive and non-processive DNA polymerase activity, DNA binding affinity, enzyme processivity, and subunit interaction with recombinant POLGbeta.
T6 646-777 Sentence denotes In addition, we studied the effects of the W748S and E1143G mutations in primary human cell cultures using retroviral transduction.
T7 778-885 Sentence denotes Here, we examined cell viability, mitochondrial DNA copy number, and products of mitochondrial translation.
T8 886-1100 Sentence denotes Our results indicate that the W748S mutant POLGalpha does not exhibit a clear biochemical phenotype, making it indistinguishable from wild type POLGalpha and as such, fail to replicate previously published results.
T9 1101-1229 Sentence denotes Furthermore, results from the cell models were concurrent with the findings from patients, and support our biochemical findings.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 319-324 gene:5428 denotes MIRAS
T1 361-367 disease:C0004134 denotes ataxia
R1 T0 T1 associated_with MIRAS,ataxia

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 117-130 HP_0001427 denotes Mitochondrial
T2 311-317 HP_0001251 denotes ataxia
T3 361-367 HP_0001251 denotes ataxia
T4 812-825 HP_0001427 denotes mitochondrial
T5 859-872 HP_0001427 denotes mitochondrial

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
20153822-2#42#48#geners2307441 252-258 geners2307441 denotes E1143G
20153822-2#21#26#geners113994097 231-236 geners113994097 denotes W748S
20153822-2#101#107#diseaseC0004134 311-317 diseaseC0004134 denotes ataxia
20153822-2#101#107#diseaseC0007758 311-317 diseaseC0007758 denotes ataxia
20153822-2#151#157#diseaseC0004134 361-367 diseaseC0004134 denotes ataxia
20153822-2#151#157#diseaseC0007758 361-367 diseaseC0007758 denotes ataxia
20153822-2#101#107#diseaseC0004134 311-317 diseaseC0004134 denotes ataxia
20153822-2#101#107#diseaseC0007758 311-317 diseaseC0007758 denotes ataxia
20153822-2#151#157#diseaseC0004134 361-367 diseaseC0004134 denotes ataxia
20153822-2#151#157#diseaseC0007758 361-367 diseaseC0007758 denotes ataxia
42#48#geners2307441101#107#diseaseC0004134 20153822-2#42#48#geners2307441 20153822-2#101#107#diseaseC0004134 associated_with E1143G,ataxia
42#48#geners2307441101#107#diseaseC0007758 20153822-2#42#48#geners2307441 20153822-2#101#107#diseaseC0007758 associated_with E1143G,ataxia
42#48#geners2307441151#157#diseaseC0004134 20153822-2#42#48#geners2307441 20153822-2#151#157#diseaseC0004134 associated_with E1143G,ataxia
42#48#geners2307441151#157#diseaseC0007758 20153822-2#42#48#geners2307441 20153822-2#151#157#diseaseC0007758 associated_with E1143G,ataxia
42#48#geners2307441101#107#diseaseC0004134 20153822-2#42#48#geners2307441 20153822-2#101#107#diseaseC0004134 associated_with E1143G,ataxia
42#48#geners2307441101#107#diseaseC0007758 20153822-2#42#48#geners2307441 20153822-2#101#107#diseaseC0007758 associated_with E1143G,ataxia
42#48#geners2307441151#157#diseaseC0004134 20153822-2#42#48#geners2307441 20153822-2#151#157#diseaseC0004134 associated_with E1143G,ataxia
42#48#geners2307441151#157#diseaseC0007758 20153822-2#42#48#geners2307441 20153822-2#151#157#diseaseC0007758 associated_with E1143G,ataxia
21#26#geners113994097101#107#diseaseC0004134 20153822-2#21#26#geners113994097 20153822-2#101#107#diseaseC0004134 associated_with W748S,ataxia
21#26#geners113994097101#107#diseaseC0007758 20153822-2#21#26#geners113994097 20153822-2#101#107#diseaseC0007758 associated_with W748S,ataxia
21#26#geners113994097151#157#diseaseC0004134 20153822-2#21#26#geners113994097 20153822-2#151#157#diseaseC0004134 associated_with W748S,ataxia
21#26#geners113994097151#157#diseaseC0007758 20153822-2#21#26#geners113994097 20153822-2#151#157#diseaseC0007758 associated_with W748S,ataxia
21#26#geners113994097101#107#diseaseC0004134 20153822-2#21#26#geners113994097 20153822-2#101#107#diseaseC0004134 associated_with W748S,ataxia
21#26#geners113994097101#107#diseaseC0007758 20153822-2#21#26#geners113994097 20153822-2#101#107#diseaseC0007758 associated_with W748S,ataxia
21#26#geners113994097151#157#diseaseC0004134 20153822-2#21#26#geners113994097 20153822-2#151#157#diseaseC0004134 associated_with W748S,ataxia
21#26#geners113994097151#157#diseaseC0007758 20153822-2#21#26#geners113994097 20153822-2#151#157#diseaseC0007758 associated_with W748S,ataxia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20153822-2#109#114#gene5428 319-324 gene5428 denotes MIRAS
20153822-2#151#157#diseaseC0004134 361-367 diseaseC0004134 denotes ataxia
20153822-2#151#157#diseaseC0007758 361-367 diseaseC0007758 denotes ataxia
109#114#gene5428151#157#diseaseC0004134 20153822-2#109#114#gene5428 20153822-2#151#157#diseaseC0004134 associated_with MIRAS,ataxia
109#114#gene5428151#157#diseaseC0007758 20153822-2#109#114#gene5428 20153822-2#151#157#diseaseC0007758 associated_with MIRAS,ataxia

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T2406 319-324 gene:5428 denotes MIRAS
T2407 361-367 disease:C0004134 denotes ataxia
R1 T2406 T2407 associated_with MIRAS,ataxia
R2 T2406 T2407 associated_with MIRAS,ataxia

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 311-317 Phenotype denotes ataxia HP:0001251
T2 361-367 Phenotype denotes ataxia HP:0001251

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 311-317 Disease denotes ataxia http://purl.obolibrary.org/obo/MONDO_0000437
T2 319-324 Disease denotes MIRAS http://purl.obolibrary.org/obo/MONDO_0019791
T3 361-367 Disease denotes ataxia http://purl.obolibrary.org/obo/MONDO_0000437

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 473-478 OrganismTaxon denotes human 9606
T2 727-732 OrganismTaxon denotes human 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 160-164 Body_part denotes sole http://purl.obolibrary.org/obo/UBERON_0008338