PubMed:7657610 JSON TXT

Annnotations TAB JSON ListView MergeView

sentences

Id	Subject	Object	Predicate	Lexical cue
TextSentencer_T1	0-176	Sentence	denotes	In vitro splicing deficiency induced by a C to T mutation at position -3 in the intron 10 acceptor site of the phenylalanine hydroxylase gene in a patient with phenylketonuria.
TextSentencer_T2	177-352	Sentence	denotes	A previous study has identified a C-->U mutation at position -3 in the 3' splice site of intron 10 of the phenylalanine hydroxylase pre-mRNA in a patient with phenylketonuria.
TextSentencer_T3	353-420	Sentence	denotes	In vivo, this mutation induces the skipping of the downstream exon.
TextSentencer_T4	421-528	Sentence	denotes	This result is puzzling because both CAG and UAG have been reported to function equally as 3' splice sites.
TextSentencer_T5	529-697	Sentence	denotes	In this report, we show that the C-->U mutation affects predominantly the first step of the splicing reaction and that it blocks spliceosome assembly at an early stage.
TextSentencer_T6	698-957	Sentence	denotes	The 3' region of the phenylalanine hydroxylase intron 10 has two unusual characteristic features: multiple potential branch sites and a series of four guanosine residues, which interrupt the polypyrimidine tract at positions -8 to -11 from the 3' splice site.
TextSentencer_T7	958-1072	Sentence	denotes	We show that the mutation precludes the use of the proximal branch site, while having no effect on the remote one.
TextSentencer_T8	1073-1176	Sentence	denotes	We also show that in the UAG transcript, the four guanosine residues inhibit the splicing of intron 10.
TextSentencer_T9	1177-1388	Sentence	denotes	The substitution of these purine residues by one cytosine residue, regardless of the position, increases the splicing efficiency of the mutant UAG precursor while having no effect on the wild-type CAG precursor.
TextSentencer_T10	1389-1519	Sentence	denotes	Substituting the four purine residues by four pyrimidines relieves the inhibition and rescues the use of the proximal branch site.
TextSentencer_T11	1520-1663	Sentence	denotes	These results demonstrate that according to the context, the C and U nucleotides preceding the AG are not equivalent for the splicing reaction.
T1	0-176	Sentence	denotes	In vitro splicing deficiency induced by a C to T mutation at position -3 in the intron 10 acceptor site of the phenylalanine hydroxylase gene in a patient with phenylketonuria.
T2	177-352	Sentence	denotes	A previous study has identified a C-->U mutation at position -3 in the 3' splice site of intron 10 of the phenylalanine hydroxylase pre-mRNA in a patient with phenylketonuria.
T3	353-420	Sentence	denotes	In vivo, this mutation induces the skipping of the downstream exon.
T4	421-528	Sentence	denotes	This result is puzzling because both CAG and UAG have been reported to function equally as 3' splice sites.
T5	529-697	Sentence	denotes	In this report, we show that the C-->U mutation affects predominantly the first step of the splicing reaction and that it blocks spliceosome assembly at an early stage.
T6	698-957	Sentence	denotes	The 3' region of the phenylalanine hydroxylase intron 10 has two unusual characteristic features: multiple potential branch sites and a series of four guanosine residues, which interrupt the polypyrimidine tract at positions -8 to -11 from the 3' splice site.
T7	958-1072	Sentence	denotes	We show that the mutation precludes the use of the proximal branch site, while having no effect on the remote one.
T8	1073-1176	Sentence	denotes	We also show that in the UAG transcript, the four guanosine residues inhibit the splicing of intron 10.
T9	1177-1388	Sentence	denotes	The substitution of these purine residues by one cytosine residue, regardless of the position, increases the splicing efficiency of the mutant UAG precursor while having no effect on the wild-type CAG precursor.
T10	1389-1519	Sentence	denotes	Substituting the four purine residues by four pyrimidines relieves the inhibition and rescues the use of the proximal branch site.
T11	1520-1663	Sentence	denotes	These results demonstrate that according to the context, the C and U nucleotides preceding the AG are not equivalent for the splicing reaction.

Glycosmos6-MAT

Id	Subject	Object	Predicate	Lexical cue
T1	1009-1017	http://purl.obolibrary.org/obo/MAT_0000491	denotes	proximal
T2	1498-1506	http://purl.obolibrary.org/obo/MAT_0000491	denotes	proximal

DisGeNET

Id	Subject	Object	Predicate	Lexical cue
T0	283-308	gene:5053	denotes	phenylalanine hydroxylase
T1	336-351	disease:C0031485	denotes	phenylketonuria
T2	283-308	gene:5053	denotes	phenylalanine hydroxylase
T3	336-351	disease:C0751434	denotes	phenylketonuria
R1	T0	T1	associated_with	phenylalanine hydroxylase,phenylketonuria
R2	T2	T3	associated_with	phenylalanine hydroxylase,phenylketonuria

PubCasesORDO

Id	Subject	Object	Predicate	Lexical cue
AB1	336-351	ORDO:716	denotes	phenylketonuria
TI1	160-175	ORDO:716	denotes	phenylketonuria

mondo_disease

Id	Subject	Object	Predicate	Lexical cue	mondo_id
T1	160-175	Disease	denotes	phenylketonuria	http://purl.obolibrary.org/obo/MONDO_0009861
T2	336-351	Disease	denotes	phenylketonuria	http://purl.obolibrary.org/obo/MONDO_0009861

NCBITAXON

Id	Subject	Object	Predicate	Lexical cue	db_id
T1	147-154	OrganismTaxon	denotes	patient	9606
T2	323-330	OrganismTaxon	denotes	patient	9606

Anatomy-UBERON

Id	Subject	Object	Predicate	Lexical cue	uberon_id
T1	904-909	Body_part	denotes	tract	http://purl.obolibrary.org/obo/UBERON_0001018

Anatomy-MAT

Id	Subject	Object	Predicate	Lexical cue	mat_id
T1	1009-1017	Body_part	denotes	proximal	http://purl.obolibrary.org/obo/MAT_0000491
T2	1498-1506	Body_part	denotes	proximal	http://purl.obolibrary.org/obo/MAT_0000491