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PubMed:1685324 JSONTXT

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DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
1685324-2#16#48#geners74315401 330-362 geners74315401 denotes leucine for proline at codon 102
1685324-2#167#170#diseaseC0017495 481-484 diseaseC0017495 denotes GSS
16#48#geners74315401167#170#diseaseC0017495 1685324-2#16#48#geners74315401 1685324-2#167#170#diseaseC0017495 associated_with leucine for proline at codon 102,GSS

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
1685324-2#56#69#gene5621 370-383 gene5621 denotes prion protein
1685324-2#167#170#diseaseC0017495 481-484 diseaseC0017495 denotes GSS
1685324-3#23#36#gene5621 509-522 gene5621 denotes prion protein
1685324-3#89#108#diseaseC0235031 575-594 diseaseC0235031 denotes neurologic symptoms
56#69#gene5621167#170#diseaseC0017495 1685324-2#56#69#gene5621 1685324-2#167#170#diseaseC0017495 associated_with prion protein,GSS
23#36#gene562189#108#diseaseC0235031 1685324-3#23#36#gene5621 1685324-3#89#108#diseaseC0235031 associated_with prion protein,neurologic symptoms

DisGeNET

Id Subject Object Predicate Lexical cue
T0 370-383 gene:5621 denotes prion protein
T1 481-484 disease:C0017495 denotes GSS
R1 T0 T1 associated_with prion protein,GSS

Oryza_sentences

Id Subject Object Predicate Lexical cue
T1 0-82 Sentence denotes Molecular genetics and transgenic model of Gertsmann-Sträussler-Scheinker disease.
T2 83-313 Sentence denotes Gerstmann-Sträussler-Scheinker disease (GSS) is a rare, dominantly inherited neurodegenerative disease that can sometimes be transmitted to experimental animals through intracerebral inoculation of brain homogenates from patients.
T3 314-485 Sentence denotes Substitution of leucine for proline at codon 102 of the prion protein gene has been found in several families with the disease; this mutation is genetically linked to GSS.
T4 486-689 Sentence denotes Mice containing murine prion protein transgenes with this mutation spontaneously develop neurologic symptoms of ataxia, lethargy, and rigidity accompanied by spongiform degeneration throughout the brain.
T5 690-970 Sentence denotes Thus, many of the clinical and pathological features of the GSS have been reproduced in this transgenic mouse paradigm; to our knowledge, this study illustrates, for the first time, that a neurodegenerative process similar to a human disease can be genetically modeled in animals.
T6 971-1144 Sentence denotes Whether or not this transgenic mouse model of GSS may facilitate the understanding of common neurodegenerative disorders such as Alzheimer disease remains to be established.