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PubMed_Structured_Abstracts

Id Subject Object Predicate Lexical cue
T1 116-479 OBJECTIVE denotes To screen the exons of the gene encoding the alpha'-subunit of cone cyclic guanosine monophosphate (cGMP>phosphodiesterase (PDE6C) for mutations in a group of 456 unrelated patients with various forms of inherited retinal disease, including cone dystrophy, cone-rod dystrophy, macular dystrophy, and simplex/multiplex and autosomal recessive retinitis pigmentosa.
T2 489-716 METHODS denotes The 22 exons of the PDE6C gene were screened for mutations either by denaturing gradient gel electrophoresis and single-strand conformation polymorphism electrophoresis (SSCP) or by SSCP alone; variants were sequenced directly.
T3 726-808 RESULTS denotes Although many sequence variants were found, none could be associated with disease.
T4 822-1260 CONCLUSIONS denotes The results show that PDE6C was not the site of the amutations responsible for the types of inherited retinal degenerations analyzed in the large population of patients 'in the present study. The types of degeneration included those that predominantly affect cone-mediated function (cone and cone-rod dystrophies) or rod-mediated function (retinitis pigmentosa) or that have a predilection for disease in the macula (macular dystrophies).

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10393054-1#124#129#gene5146 240-245 gene5146 denotes PDE6C
10393054-1#214#229#diseaseC0035309 330-345 diseaseC0035309 denotes retinal disease
10393054-1#241#255#diseaseC0730290 357-371 diseaseC0730290 denotes cone dystrophy
10393054-1#322#362#diseaseC0339526 438-478 diseaseC0339526 denotes autosomal recessive retinitis pigmentosa
124#129#gene5146214#229#diseaseC0035309 10393054-1#124#129#gene5146 10393054-1#214#229#diseaseC0035309 associated_with PDE6C,retinal disease
124#129#gene5146241#255#diseaseC0730290 10393054-1#124#129#gene5146 10393054-1#241#255#diseaseC0730290 associated_with PDE6C,cone dystrophy
124#129#gene5146322#362#diseaseC0339526 10393054-1#124#129#gene5146 10393054-1#322#362#diseaseC0339526 associated_with PDE6C,autosomal recessive retinitis pigmentosa

DisGeNET

Id Subject Object Predicate Lexical cue
T0 63-66 gene:501 denotes PDE
T1 84-105 disease:C0035304 denotes retinal degenerations
T2 240-245 gene:5146 denotes PDE6C
T3 438-478 disease:C0339526 denotes autosomal recessive retinitis pigmentosa
T4 240-245 gene:5146 denotes PDE6C
T5 357-371 disease:C0730290 denotes cone dystrophy
T6 240-245 gene:5146 denotes PDE6C
T7 330-345 disease:C0035309 denotes retinal disease
T8 844-849 gene:5146 denotes PDE6C
T9 924-945 disease:C0035304 denotes retinal degenerations
R1 T0 T1 associated_with PDE,retinal degenerations
R2 T2 T3 associated_with PDE6C,autosomal recessive retinitis pigmentosa
R3 T4 T5 associated_with PDE6C,cone dystrophy
R4 T6 T7 associated_with PDE6C,retinal disease
R5 T8 T9 associated_with PDE6C,retinal degenerations

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 373-391 HP_0000510 denotes cone-rod dystrophy
T2 393-410 HP_0007754 denotes macular dystrophy
T3 438-457 HP_0000007 denotes autosomal recessive