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PubMed:25533456 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
25533456_0 840-847 ProteinMutation denotes p.D871N rs387906610
25533456_1 1545-1552 ProteinMutation denotes p.D871N rs387906610

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-141 Sentence denotes Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
TextSentencer_T2 142-320 Sentence denotes Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD) sit at opposite ends of a clinical spectrum caused by mutations in the extracellular matrix protein collagen VI.
TextSentencer_T3 321-502 Sentence denotes Bethlem myopathy is relatively mild, and patients remain ambulant in adulthood while many UCMD patients lose ambulation by their teenage years and require respiratory interventions.
TextSentencer_T4 503-688 Sentence denotes Dominant and recessive mutations are found across the entire clinical spectrum; however, recessive Bethlem myopathy is rare, and our understanding of the molecular pathology is limited.
TextSentencer_T5 689-732 Sentence denotes We studied a patient with Bethlem myopathy.
TextSentencer_T6 733-805 Sentence denotes Electron microscopy of his muscle biopsy revealed abnormal mitochondria.
TextSentencer_T7 806-902 Sentence denotes We identified a homozygous COL6A2 p.D871N amino acid substitution in the C-terminal C2 A-domain.
TextSentencer_T8 903-1015 Sentence denotes Mutant α2(VI) chains are unable to associate with α1(VI) and α3(VI) and are degraded by the proteasomal pathway.
TextSentencer_T9 1016-1095 Sentence denotes Some collagen VI is assembled, albeit more slowly than normal, and is secreted.
TextSentencer_T10 1096-1219 Sentence denotes These molecules contain the minor α2(VI) C2a splice form that has an alternative C terminus that does include the mutation.
TextSentencer_T11 1220-1393 Sentence denotes Collagen VI tetramers containing the α2(VI) C2a chain do not assemble efficiently into microfibrils and there is a severe collagen VI deficiency in the extracellular matrix.
TextSentencer_T12 1394-1584 Sentence denotes We expressed wild-type and mutant α2(VI) C2 domains in mammalian cells and showed that while wild-type C2 domains are efficiently secreted, the mutant p.D871N domain is retained in the cell.
TextSentencer_T13 1585-1853 Sentence denotes These studies shed new light on the protein domains important for intracellular and extracellular collagen VI assembly and emphasize the importance of molecular investigations for families with collagen VI disorders to ensure accurate diagnosis and genetic counseling.
T1 0-141 Sentence denotes Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
T2 142-320 Sentence denotes Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD) sit at opposite ends of a clinical spectrum caused by mutations in the extracellular matrix protein collagen VI.
T3 321-502 Sentence denotes Bethlem myopathy is relatively mild, and patients remain ambulant in adulthood while many UCMD patients lose ambulation by their teenage years and require respiratory interventions.
T4 503-688 Sentence denotes Dominant and recessive mutations are found across the entire clinical spectrum; however, recessive Bethlem myopathy is rare, and our understanding of the molecular pathology is limited.
T5 689-732 Sentence denotes We studied a patient with Bethlem myopathy.
T6 733-805 Sentence denotes Electron microscopy of his muscle biopsy revealed abnormal mitochondria.
T7 806-902 Sentence denotes We identified a homozygous COL6A2 p.D871N amino acid substitution in the C-terminal C2 A-domain.
T8 903-1015 Sentence denotes Mutant α2(VI) chains are unable to associate with α1(VI) and α3(VI) and are degraded by the proteasomal pathway.
T9 1016-1095 Sentence denotes Some collagen VI is assembled, albeit more slowly than normal, and is secreted.
T10 1096-1219 Sentence denotes These molecules contain the minor α2(VI) C2a splice form that has an alternative C terminus that does include the mutation.
T11 1220-1393 Sentence denotes Collagen VI tetramers containing the α2(VI) C2a chain do not assemble efficiently into microfibrils and there is a severe collagen VI deficiency in the extracellular matrix.
T12 1394-1584 Sentence denotes We expressed wild-type and mutant α2(VI) C2 domains in mammalian cells and showed that while wild-type C2 domains are efficiently secreted, the mutant p.D871N domain is retained in the cell.
T13 1585-1853 Sentence denotes These studies shed new light on the protein domains important for intracellular and extracellular collagen VI assembly and emphasize the importance of molecular investigations for families with collagen VI disorders to ensure accurate diagnosis and genetic counseling.

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 760-766 http://purl.obolibrary.org/obo/MAT_0000025 denotes muscle

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 150-158 HP_0003198 denotes myopathy
T2 171-200 HP_0003741 denotes congenital muscular dystrophy
T3 182-200 HP_0003560 denotes muscular dystrophy
T4 329-337 HP_0003198 denotes myopathy
T5 610-618 HP_0003198 denotes myopathy
T6 723-731 HP_0003198 denotes myopathy

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 152-160 HP:0003198 denotes opathy a
AB2 173-202 HP:0003741 denotes ngenital muscular dystrophy (
AB3 331-339 HP:0003198 denotes opathy i
AB4 612-620 HP:0003198 denotes opathy i
AB5 725-733 HP:0003198 denotes opathy.

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 142-158 ORDO:610 denotes Bethlem myopathy
TI1 27-43 ORDO:610 denotes Bethlem myopathy
AB2 321-337 ORDO:610 denotes Bethlem myopathy
AB3 602-618 ORDO:610 denotes Bethlem myopathy
AB4 715-731 ORDO:610 denotes Bethlem myopathy

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 760-766 Body_part denotes muscle http://purl.obolibrary.org/obo/MAT_0000025

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 35-43 Phenotype denotes myopathy HP:0003198
T2 150-158 Phenotype denotes myopathy HP:0003198
T3 171-200 Phenotype denotes congenital muscular dystrophy HP:0003560
T4 329-337 Phenotype denotes myopathy HP:0003198
T5 610-618 Phenotype denotes myopathy HP:0003198
T6 723-731 Phenotype denotes myopathy HP:0003198

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 27-43 Disease denotes Bethlem myopathy http://purl.obolibrary.org/obo/MONDO_0008029|http://purl.obolibrary.org/obo/MONDO_0024530
T3 142-158 Disease denotes Bethlem myopathy http://purl.obolibrary.org/obo/MONDO_0008029|http://purl.obolibrary.org/obo/MONDO_0024530
T5 163-200 Disease denotes Ullrich congenital muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0000355|http://purl.obolibrary.org/obo/MONDO_0009681
T7 202-206 Disease denotes UCMD http://purl.obolibrary.org/obo/MONDO_0000355
T8 321-337 Disease denotes Bethlem myopathy http://purl.obolibrary.org/obo/MONDO_0008029|http://purl.obolibrary.org/obo/MONDO_0024530
T10 411-415 Disease denotes UCMD http://purl.obolibrary.org/obo/MONDO_0000355
T11 602-618 Disease denotes Bethlem myopathy http://purl.obolibrary.org/obo/MONDO_0008029|http://purl.obolibrary.org/obo/MONDO_0024530
T13 715-731 Disease denotes Bethlem myopathy http://purl.obolibrary.org/obo/MONDO_0008029|http://purl.obolibrary.org/obo/MONDO_0024530

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 44-51 OrganismTaxon denotes patient 9606
T2 702-709 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 279-299 Body_part denotes extracellular matrix http://purl.obolibrary.org/obo/GO_0031012
T2 760-766 Body_part denotes muscle http://purl.obolibrary.org/obo/UBERON_0001630|http://purl.obolibrary.org/obo/UBERON_0005090
T4 1372-1392 Body_part denotes extracellular matrix http://purl.obolibrary.org/obo/GO_0031012
T5 1651-1664 Body_part denotes intracellular http://purl.obolibrary.org/obo/GO_0005622
T6 1669-1682 Body_part denotes extracellular http://purl.obolibrary.org/obo/GO_0005576