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PubMed:11439001 JSONTXT 12 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-25 Sentence denotes Pseudoxanthoma elasticum:
T1 0-25 Sentence denotes Pseudoxanthoma elasticum:
TextSentencer_T2 26-112 Sentence denotes Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.
T2 26-112 Sentence denotes Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.
TextSentencer_T3 113-247 Sentence denotes Pseudoxanthoma elasticum (PXE) is a mendelian disorder characterized by calcification of elastic fibers in skin, arteries, and retina.
T3 113-247 Sentence denotes Pseudoxanthoma elasticum (PXE) is a mendelian disorder characterized by calcification of elastic fibers in skin, arteries, and retina.
TextSentencer_T4 248-358 Sentence denotes It results in dermal lesions, arterial insufficiency and retinal hemorrhages, leading to macular degeneration.
T4 248-358 Sentence denotes It results in dermal lesions, arterial insufficiency and retinal hemorrhages, leading to macular degeneration.
TextSentencer_T5 359-475 Sentence denotes PXE is transmitted either as an autosomal dominant or recessive trait and several sporadic cases have been observed.
T5 359-475 Sentence denotes PXE is transmitted either as an autosomal dominant or recessive trait and several sporadic cases have been observed.
TextSentencer_T6 476-551 Sentence denotes Mutations in the ABCC6 gene have been identified very recently in patients.
T6 476-551 Sentence denotes Mutations in the ABCC6 gene have been identified very recently in patients.
TextSentencer_T7 552-861 Sentence denotes Here, we report on a large Italian family affected by pseudoxanthoma elasticum for which linkage analysis had pointed to a region encompassing markers D16S3069-D16S405-D16S3103; hemizygosity of marker D16S405 allowed us to detect a submicroscopic deletion of at least 900 kb involving ABCC6, ABCC1, and MYH11.
T7 552-861 Sentence denotes Here, we report on a large Italian family affected by pseudoxanthoma elasticum for which linkage analysis had pointed to a region encompassing markers D16S3069-D16S405-D16S3103; hemizygosity of marker D16S405 allowed us to detect a submicroscopic deletion of at least 900 kb involving ABCC6, ABCC1, and MYH11.
TextSentencer_T8 862-1162 Sentence denotes Mutation analysis on the other allele of the family, as well as on two additional sporadic cases, revealed nonsense (Y227X, R518X, R1164X) and frame-shift (c.960delC) mutations in ABCC6 (MRP6) further confirming the role of this multi-drug resistance gene in the etiology of pseudoxanthoma elasticum.
T8 862-1162 Sentence denotes Mutation analysis on the other allele of the family, as well as on two additional sporadic cases, revealed nonsense (Y227X, R518X, R1164X) and frame-shift (c.960delC) mutations in ABCC6 (MRP6) further confirming the role of this multi-drug resistance gene in the etiology of pseudoxanthoma elasticum.
TextSentencer_T9 1163-1346 Sentence denotes Furthermore, clinical re-examination of members of the family harboring the deletion led to the detection of additional features, potentially caused by the deletion of the MYH11 gene.
T9 1163-1346 Sentence denotes Furthermore, clinical re-examination of members of the family harboring the deletion led to the detection of additional features, potentially caused by the deletion of the MYH11 gene.
TextSentencer_T10 1347-1425 Sentence denotes In the course of the analysis five nonpathogenic variants were found in ABCC6:
T10 1347-1425 Sentence denotes In the course of the analysis five nonpathogenic variants were found in ABCC6:
TextSentencer_T11 1426-1486 Sentence denotes 1233T>C, 1245G>A, 1838 T>G (V614A), 1890C>G, and 3506+83C>A.
T11 1426-1486 Sentence denotes 1233T>C, 1245G>A, 1838 T>G (V614A), 1890C>G, and 3506+83C>A.
TextSentencer_T12 1487-1509 Sentence denotes Hum Mutat 18:85, 2001.
T12 1487-1509 Sentence denotes Hum Mutat 18:85, 2001.