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PubMed:22453924 JSON TXT

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CL-cell

Id	Subject	Object	Predicate	Lexical cue	cl_id
T1	768-771	Cell	denotes	rod	http://purl.obolibrary.org/obo/CL:0000604

sentences

Id	Subject	Object	Predicate	Lexical cue
TextSentencer_T1	0-131	Sentence	denotes	Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy.
TextSentencer_T2	132-309	Sentence	denotes	Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish.
TextSentencer_T3	310-441	Sentence	denotes	Amino acid substitutions may disrupt binding capacities of dystrophin and have a major impact on the functionality of this protein.
TextSentencer_T4	442-609	Sentence	denotes	We have identified two brothers (ages 8 and 10 years) with very mild proximal weakness, recurrent abdominal pain, and moderately elevated serum creatine kinase levels.
TextSentencer_T5	610-779	Sentence	denotes	Gene sequencing revealed a novel mutation in exon 11 of the dystrophin gene (c.1280T>C) leading to a L427P amino acid substitution in repeat 1 of the central rod domain.
TextSentencer_T6	780-975	Sentence	denotes	Immunostaining of skeletal muscle showed weak staining of the dystrophin region encoded by exons 7 and 8 corresponding to the end of the actin-binding domain 1 and the N-terminal part of hinge 1.
TextSentencer_T7	976-1172	Sentence	denotes	Spectrofluorescence and circular dichroism analysis of the domain repeat 1-2 (R1-2) revealed partial misfolding of the L427P mutated protein as well as a reduced refolding rate after denaturation.
TextSentencer_T8	1173-1436	Sentence	denotes	Based on computational homology models of the wild-type and mutated R1-2, a molecular dynamics study showed an alteration in the flexibility of the structure, which also strongly affects the conformational space available in the N-terminal region of the fragment.
TextSentencer_T9	1437-1562	Sentence	denotes	Our results suggest that this missense mutation hinders the dynamic properties of the entire N-terminal region of dystrophin.
T1	0-131	Sentence	denotes	Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy.
T2	132-309	Sentence	denotes	Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish.
T3	310-441	Sentence	denotes	Amino acid substitutions may disrupt binding capacities of dystrophin and have a major impact on the functionality of this protein.
T4	442-609	Sentence	denotes	We have identified two brothers (ages 8 and 10 years) with very mild proximal weakness, recurrent abdominal pain, and moderately elevated serum creatine kinase levels.
T5	610-779	Sentence	denotes	Gene sequencing revealed a novel mutation in exon 11 of the dystrophin gene (c.1280T>C) leading to a L427P amino acid substitution in repeat 1 of the central rod domain.
T6	780-975	Sentence	denotes	Immunostaining of skeletal muscle showed weak staining of the dystrophin region encoded by exons 7 and 8 corresponding to the end of the actin-binding domain 1 and the N-terminal part of hinge 1.
T7	976-1172	Sentence	denotes	Spectrofluorescence and circular dichroism analysis of the domain repeat 1-2 (R1-2) revealed partial misfolding of the L427P mutated protein as well as a reduced refolding rate after denaturation.
T8	1173-1436	Sentence	denotes	Based on computational homology models of the wild-type and mutated R1-2, a molecular dynamics study showed an alteration in the flexibility of the structure, which also strongly affects the conformational space available in the N-terminal region of the fragment.
T9	1437-1562	Sentence	denotes	Our results suggest that this missense mutation hinders the dynamic properties of the entire N-terminal region of dystrophin.

Glycosmos6-MAT

Id	Subject	Object	Predicate	Lexical cue
T1	511-519	http://purl.obolibrary.org/obo/MAT_0000491	denotes	proximal
T2	798-813	http://purl.obolibrary.org/obo/MAT_0000302	denotes	skeletal muscle
T3	807-813	http://purl.obolibrary.org/obo/MAT_0000025	denotes	muscle

DisGeNET

Id	Subject	Object	Predicate	Lexical cue
T0	44-54	gene:1756	denotes	dystrophin
T1	105-130	disease:C0917713	denotes	Becker muscular dystrophy
T2	149-159	gene:1756	denotes	dystrophin
T3	219-244	disease:C0917713	denotes	Becker muscular dystrophy
R1	T0	T1	associated_with	dystrophin,Becker muscular dystrophy
R2	T2	T3	associated_with	dystrophin,Becker muscular dystrophy

PubmedHPO

Id	Subject	Object	Predicate	Lexical cue
T1	226-244	HP_0003560	denotes	muscular dystrophy
T2	540-554	HP_0002027	denotes	abdominal pain
T3	550-554	HP_0012531	denotes	pain
T4	571-601	HP_0003236	denotes	elevated serum creatine kinase

Allie

Id	Subject	Object	Predicate	Lexical cue
SS1_22453924_6_0	1042-1052	expanded	denotes	repeat 1-2
SS2_22453924_6_0	1054-1058	abbr	denotes	R1-2
AE1_22453924_6_0	SS1_22453924_6_0	SS2_22453924_6_0	abbreviatedTo	repeat 1-2,R1-2

DisGeNET5_gene_disease

Id	Subject	Object	Predicate	Lexical cue
22453924-0#44#54#gene1756	44-54	gene1756	denotes	dystrophin
22453924-0#105#130#diseaseC0917713	105-130	diseaseC0917713	denotes	Becker muscular dystrophy
44#54#gene1756105#130#diseaseC0917713	22453924-0#44#54#gene1756	22453924-0#105#130#diseaseC0917713	associated_with	dystrophin,Becker muscular dystrophy

UBERON-AE

Id	Subject	Object	Predicate	Lexical cue
PD-UBERON-AE-B_T1	55-62	http://purl.obolibrary.org/obo/UBERON_0012131	denotes	central
PD-UBERON-AE-B_T2	760-767	http://purl.obolibrary.org/obo/UBERON_0012131	denotes	central
PD-UBERON-AE-B_T3	580-585	http://purl.obolibrary.org/obo/UBERON_0001977	denotes	serum

PubCasesHPO

Id	Subject	Object	Predicate	Lexical cue
AB1	226-244	HP:0003560	denotes	muscular dystrophy
TI1	112-130	HP:0003560	denotes	muscular dystrophy
AB2	540-554	HP:0002027	denotes	abdominal pain

performance-test

Id	Subject	Object	Predicate	Lexical cue
PD-UBERON-AE-B_T1	580-585	http://purl.obolibrary.org/obo/UBERON_0001977	denotes	serum
PD-UBERON-AE-B_T2	55-62	http://purl.obolibrary.org/obo/UBERON_0012131	denotes	central
PD-UBERON-AE-B_T3	760-767	http://purl.obolibrary.org/obo/UBERON_0012131	denotes	central

PubCasesORDO

Id	Subject	Object	Predicate	Lexical cue
AB1	219-244	ORDO:98895	denotes	Becker muscular dystrophy
TI1	105-130	ORDO:98895	denotes	Becker muscular dystrophy

mondo_disease

Id	Subject	Object	Predicate	Lexical cue	mondo_id
T1	105-130	Disease	denotes	Becker muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0010311
T2	219-244	Disease	denotes	Becker muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0010311

HP-phenotype

Id	Subject	Object	Predicate	Lexical cue	hp_id
T1	112-130	Phenotype	denotes	muscular dystrophy	HP:0003560
T2	226-244	Phenotype	denotes	muscular dystrophy	HP:0003560
T3	520-528	Phenotype	denotes	weakness	HP:0025406
T4	540-554	Phenotype	denotes	abdominal pain	HP:0002027
T5	571-601	Phenotype	denotes	elevated serum creatine kinase	HP:0003236

Anatomy-UBERON

Id	Subject	Object	Predicate	Lexical cue	uberon_id
T1	768-771	Body_part	denotes	rod	http://purl.obolibrary.org/obo/CL_0000604
T2	798-813	Body_part	denotes	skeletal muscle	http://purl.obolibrary.org/obo/UBERON_0001134\|http://purl.obolibrary.org/obo/UBERON_0014892\|http://purl.obolibrary.org/obo/UBERON_0014895
T5	1379-1384	Body_part	denotes	space	http://purl.obolibrary.org/obo/UBERON_0000464

Anatomy-MAT

Id	Subject	Object	Predicate	Lexical cue	mat_id
T1	511-519	Body_part	denotes	proximal	http://purl.obolibrary.org/obo/MAT_0000491
T2	798-813	Body_part	denotes	skeletal muscle	http://purl.obolibrary.org/obo/MAT_0000302