> top > docs > PubMed:3722184 > annotations

PubMed:3722184 JSONTXT

Annnotations TAB JSON ListView MergeView

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 230-234 http://purl.obolibrary.org/obo/MAT_0000284 denotes skin
T2 251-255 http://purl.obolibrary.org/obo/MAT_0000284 denotes skin

DisGeNET

Id Subject Object Predicate Lexical cue
T0 114-121 gene:146 denotes alpha 1
T1 24-47 disease:C0029434 denotes osteogenesis imperfecta
R1 T0 T1 associated_with alpha 1,osteogenesis imperfecta

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-172 Sentence denotes Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha 1(I) collagen chain producing lethal and mild forms.
TextSentencer_T2 173-360 Sentence denotes We have examined the collagenous proteins extracted from skin and produced by skin fibroblast cultures from the members of a family with mild dominant osteogenesis imperfecta (OI type I).
TextSentencer_T3 361-558 Sentence denotes The two affected patients, mother and son, produce two populations of alpha 1(I) chains of type I collagen, one chain being normal, the other containing a cysteine within the triple-helical domain.
TextSentencer_T4 559-645 Sentence denotes Both forms can be incorporated into triple-helical molecules with an alpha 2(I) chain.
TextSentencer_T5 646-757 Sentence denotes When two mutant alpha (I) chains are incorporated into the same molecule, a disulfide bonded dimer is produced.
TextSentencer_T6 758-929 Sentence denotes We have characterized these chains by sodium dodecyl sulfate-gel electrophoresis and CNBr-peptide mapping and by measuring a number of biosynthetic and physical variables.
TextSentencer_T7 930-1000 Sentence denotes The cysteine was localized to the COOH-terminal peptide alpha (I) CB6.
TextSentencer_T8 1001-1221 Sentence denotes Molecules containing the mutant chains are stable, have a normal denaturation temperature, are secreted normally, and have normal levels of post-translational modification of lysyl residues and intracellular degradation.
TextSentencer_T9 1222-1422 Sentence denotes We have compared and contrasted these observations with those made in a patient with lethal osteogenesis imperfecta in which there was a cysteine substitution in alpha 1(I) CB6 (Steinmann, B., Rao, V.
TextSentencer_T10 1423-1481 Sentence denotes H., Vogel, A., Bruckner, P., Gitzelmann, R., and Byers, P.
TextSentencer_T11 1482-1494 Sentence denotes H. (1984) J.
TextSentencer_T12 1495-1500 Sentence denotes Biol.
TextSentencer_T13 1501-1725 Sentence denotes Chem 259, 11129-11138) and have concluded that the mutation in the present family occurs in the X or Y position of a Gly-X-Y repeating unit of collagen and not in the glycine position shown for the previous patient (Cohn, D.
TextSentencer_T14 1726-1739 Sentence denotes H., Byers, P.
TextSentencer_T15 1740-1773 Sentence denotes H., Steinmann, B, and Gelinas, R.
TextSentencer_T16 1774-1789 Sentence denotes E. (1986) Proc.
TextSentencer_T17 1790-1795 Sentence denotes Natl.
TextSentencer_T18 1796-1801 Sentence denotes Acad.
TextSentencer_T19 1802-1806 Sentence denotes Sci.
TextSentencer_T20 1807-1809 Sentence denotes U.
TextSentencer_T21 1810-1812 Sentence denotes S.
TextSentencer_T22 1813-1826 Sentence denotes A., in press.
T1 0-172 Sentence denotes Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha 1(I) collagen chain producing lethal and mild forms.
T2 173-360 Sentence denotes We have examined the collagenous proteins extracted from skin and produced by skin fibroblast cultures from the members of a family with mild dominant osteogenesis imperfecta (OI type I).
T3 361-558 Sentence denotes The two affected patients, mother and son, produce two populations of alpha 1(I) chains of type I collagen, one chain being normal, the other containing a cysteine within the triple-helical domain.
T4 559-645 Sentence denotes Both forms can be incorporated into triple-helical molecules with an alpha 2(I) chain.
T5 646-757 Sentence denotes When two mutant alpha (I) chains are incorporated into the same molecule, a disulfide bonded dimer is produced.
T6 758-929 Sentence denotes We have characterized these chains by sodium dodecyl sulfate-gel electrophoresis and CNBr-peptide mapping and by measuring a number of biosynthetic and physical variables.
T7 930-1000 Sentence denotes The cysteine was localized to the COOH-terminal peptide alpha (I) CB6.
T8 1001-1221 Sentence denotes Molecules containing the mutant chains are stable, have a normal denaturation temperature, are secreted normally, and have normal levels of post-translational modification of lysyl residues and intracellular degradation.
T9 1222-1422 Sentence denotes We have compared and contrasted these observations with those made in a patient with lethal osteogenesis imperfecta in which there was a cysteine substitution in alpha 1(I) CB6 (Steinmann, B., Rao, V.
T10 1423-1481 Sentence denotes H., Vogel, A., Bruckner, P., Gitzelmann, R., and Byers, P.
T11 1482-1494 Sentence denotes H. (1984) J.
T12 1495-1500 Sentence denotes Biol.
T13 1501-1725 Sentence denotes Chem 259, 11129-11138) and have concluded that the mutation in the present family occurs in the X or Y position of a Gly-X-Y repeating unit of collagen and not in the glycine position shown for the previous patient (Cohn, D.
T14 1726-1739 Sentence denotes H., Byers, P.
T15 1740-1773 Sentence denotes H., Steinmann, B, and Gelinas, R.
T16 1774-1789 Sentence denotes E. (1986) Proc.
T17 1790-1795 Sentence denotes Natl.
T18 1796-1801 Sentence denotes Acad.
T19 1802-1806 Sentence denotes Sci.
T20 1807-1809 Sentence denotes U.
T21 1810-1812 Sentence denotes S.
T22 1813-1826 Sentence denotes A., in press.

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 24-47 ORDO:666 denotes osteogenesis imperfecta
AB1 324-347 ORDO:666 denotes osteogenesis imperfecta

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 24-47 Disease denotes osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019
T2 324-347 Disease denotes osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019
T3 1307-1337 Disease denotes lethal osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0008147

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 1294-1301 OrganismTaxon denotes patient 9606
T2 1668-1675 OrganismTaxon denotes glycine 3846
T3 1708-1715 OrganismTaxon denotes patient 9606

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 230-234 Body_part denotes skin http://purl.obolibrary.org/obo/MAT_0000284
T2 251-255 Body_part denotes skin http://purl.obolibrary.org/obo/MAT_0000284

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 230-234 Body_part denotes skin http://purl.obolibrary.org/obo/UBERON_0000014|http://purl.obolibrary.org/obo/UBERON_0001003|http://purl.obolibrary.org/obo/UBERON_0002097|http://purl.obolibrary.org/obo/UBERON_0002199
T5 251-266 Body_part denotes skin fibroblast http://purl.obolibrary.org/obo/CL_0002620
T6 1195-1208 Body_part denotes intracellular http://purl.obolibrary.org/obo/GO_0005622

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 251-266 Cell denotes skin fibroblast http://purl.obolibrary.org/obo/CL:0002620
T2 256-266 Cell denotes fibroblast http://purl.obolibrary.org/obo/CL:0000057
T3 352-358 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T5 452-458 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138