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PubMed:20410308 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
T1 0-149 Sentence denotes Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.
T2 150-282 Sentence denotes The PQBP1 (polyglutamine tract-binding protein 1) gene encodes a nuclear protein that regulates pre-mRNA splicing and transcription.
T3 283-420 Sentence denotes Mutations in the PQBP1 gene were reported in several X chromosome-linked mental retardation disorders including Golabi-Ito-Hall syndrome.
T4 421-600 Sentence denotes The missense mutation that causes this syndrome is unique among other PQBP1 mutations reported to date because it maps within a functional domain of PQBP1, known as the WW domain.
T5 601-731 Sentence denotes The mutation substitutes tyrosine 65 with cysteine and is located within the conserved core of aromatic amino acids of the domain.
T6 732-891 Sentence denotes We show here that the binding property of the Y65C-mutated WW domain and the full-length mutant protein toward its cognate proline-rich ligands was diminished.
T7 892-1064 Sentence denotes Furthermore, in Golabi-Ito-Hall-derived lymphoblasts we showed that the complex between PQBP1-Y65C and WBP11 (WW domain-binding protein 11) splicing factor was compromised.
T8 1065-1148 Sentence denotes In these cells a substantial decrease in pre-mRNA splicing efficiency was detected.
T9 1149-1404 Sentence denotes Our study points to the critical role of the WW domain in the function of the PQBP1 protein and provides an insight into the molecular mechanism that underlies the X chromosome-linked mental retardation entities classified globally as Renpenning syndrome.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 80-85 gene:10084 denotes PQBP1
T1 47-71 disease:C0796135 denotes Golabi-Ito-Hall syndrome
T2 300-305 gene:10084 denotes PQBP1
T3 395-419 disease:C0796135 denotes Golabi-Ito-Hall syndrome
R1 T0 T1 associated_with PQBP1,Golabi-Ito-Hall syndrome
R2 T2 T3 associated_with PQBP1,Golabi-Ito-Hall syndrome

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 356-374 HP_0001249 denotes mental retardation
T2 1333-1351 HP_0001249 denotes mental retardation

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
20410308-0#0#4#geners121917899 0-4 geners121917899 denotes Y65C
20410308-0#47#71#diseaseC0796135 47-71 diseaseC0796135 denotes Golabi-Ito-Hall syndrome
0#4#geners12191789947#71#diseaseC0796135 20410308-0#0#4#geners121917899 20410308-0#47#71#diseaseC0796135 associated_with Y65C,Golabi-Ito-Hall syndrome

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20410308-0#80#85#gene10084 80-85 gene10084 denotes PQBP1
20410308-0#47#71#diseaseC0796135 47-71 diseaseC0796135 denotes Golabi-Ito-Hall syndrome
20410308-8#78#83#gene10084 1227-1232 gene10084 denotes PQBP1
20410308-8#184#202#diseaseC0025362 1333-1351 diseaseC0025362 denotes mental retardation
20410308-8#184#202#diseaseC3714756 1333-1351 diseaseC3714756 denotes mental retardation
80#85#gene1008447#71#diseaseC0796135 20410308-0#80#85#gene10084 20410308-0#47#71#diseaseC0796135 associated_with PQBP1,Golabi-Ito-Hall syndrome
78#83#gene10084184#202#diseaseC0025362 20410308-8#78#83#gene10084 20410308-8#184#202#diseaseC0025362 associated_with PQBP1,mental retardation
78#83#gene10084184#202#diseaseC3714756 20410308-8#78#83#gene10084 20410308-8#184#202#diseaseC3714756 associated_with PQBP1,mental retardation

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 47-71 Disease denotes Golabi-Ito-Hall syndrome http://purl.obolibrary.org/obo/MONDO_0010653
T2 356-374 Disease denotes mental retardation http://purl.obolibrary.org/obo/MONDO_0001071
T3 395-419 Disease denotes Golabi-Ito-Hall syndrome http://purl.obolibrary.org/obo/MONDO_0010653
T4 1333-1351 Disease denotes mental retardation http://purl.obolibrary.org/obo/MONDO_0001071
T5 1384-1403 Disease denotes Renpenning syndrome http://purl.obolibrary.org/obo/MONDO_0010653

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 175-180 Body_part denotes tract http://purl.obolibrary.org/obo/UBERON_0001018
T2 338-348 Body_part denotes chromosome http://purl.obolibrary.org/obo/GO_0005694
T3 1315-1325 Body_part denotes chromosome http://purl.obolibrary.org/obo/GO_0005694

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 356-374 Phenotype denotes mental retardation HP:0001249
T2 1333-1351 Phenotype denotes mental retardation HP:0001249

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 932-944 Cell denotes lymphoblasts http://purl.obolibrary.org/obo/CL:0017005