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PubMed:23174215 JSONTXT 12 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-132 Sentence denotes Autosomal dominant hypophosphatemic rickets in an 85 year old woman: characterization of her disease from infancy through adulthood.
T1 0-132 Sentence denotes Autosomal dominant hypophosphatemic rickets in an 85 year old woman: characterization of her disease from infancy through adulthood.
TextSentencer_T2 133-144 Sentence denotes BACKGROUND:
T2 133-144 Sentence denotes BACKGROUND:
TextSentencer_T3 145-428 Sentence denotes Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder of phosphate homeostasis characterized, when severely expressed, by osteomalacia, suppressed levels of calcitriol, and renal phosphate wasting due to elevated levels of fibroblast growth factor 23 (FGF23).
T3 145-428 Sentence denotes Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder of phosphate homeostasis characterized, when severely expressed, by osteomalacia, suppressed levels of calcitriol, and renal phosphate wasting due to elevated levels of fibroblast growth factor 23 (FGF23).
TextSentencer_T4 429-544 Sentence denotes The disease is caused by heterozygous FGF23 mutations at the RXXR site that prevent cleavage of the intact hormone.
T4 429-544 Sentence denotes The disease is caused by heterozygous FGF23 mutations at the RXXR site that prevent cleavage of the intact hormone.
TextSentencer_T5 545-556 Sentence denotes OBJECTIVES:
T5 545-556 Sentence denotes OBJECTIVES:
TextSentencer_T6 557-696 Sentence denotes An FGF23 mutation was identified in the proband an 85-year-old woman with elevated FGF23 levels, and her clinical course was characterized.
T6 557-696 Sentence denotes An FGF23 mutation was identified in the proband an 85-year-old woman with elevated FGF23 levels, and her clinical course was characterized.
TextSentencer_T7 697-763 Sentence denotes Medical records revealed she was treated for rickets as an infant.
T7 697-763 Sentence denotes Medical records revealed she was treated for rickets as an infant.
TextSentencer_T8 764-890 Sentence denotes She was then asymptomatic until soon after her 4th pregnancy, when she suffered incapacitating bone pain and weakness, age 37.
T8 764-890 Sentence denotes She was then asymptomatic until soon after her 4th pregnancy, when she suffered incapacitating bone pain and weakness, age 37.
TextSentencer_T9 891-930 Sentence denotes Symptoms remitted with brief treatment.
T9 891-930 Sentence denotes Symptoms remitted with brief treatment.
TextSentencer_T10 931-939 Sentence denotes RESULTS:
T10 931-939 Sentence denotes RESULTS:
TextSentencer_T11 940-1057 Sentence denotes The proband and one son, but not other family members, were found to be heterozygous for the R176Q mutation in FGF23.
T11 940-1057 Sentence denotes The proband and one son, but not other family members, were found to be heterozygous for the R176Q mutation in FGF23.
TextSentencer_T12 1058-1204 Sentence denotes Expression of this germ line mutation was strikingly different in both individuals in terms of skeletal health, FGF23 levels and disease activity.
T12 1058-1204 Sentence denotes Expression of this germ line mutation was strikingly different in both individuals in terms of skeletal health, FGF23 levels and disease activity.
TextSentencer_T13 1205-1217 Sentence denotes CONCLUSIONS:
T13 1205-1217 Sentence denotes CONCLUSIONS:
TextSentencer_T14 1218-1419 Sentence denotes The identified FGF23 mutation in two members of this family raises questions about molecular mechanisms that have led to intermittent increases in FGF23 synthesis and secretion, and disease expression.
T14 1218-1419 Sentence denotes The identified FGF23 mutation in two members of this family raises questions about molecular mechanisms that have led to intermittent increases in FGF23 synthesis and secretion, and disease expression.