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PubMed:11301317 JSONTXT 29 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-78 Sentence denotes Identification of a dominant negative homeodomain mutation in Rieger syndrome.
T1 0-78 Sentence denotes Identification of a dominant negative homeodomain mutation in Rieger syndrome.
TextSentencer_T2 79-150 Sentence denotes Mutations in the PITX2 bicoid-like homeobox gene cause Rieger syndrome.
T2 79-150 Sentence denotes Mutations in the PITX2 bicoid-like homeobox gene cause Rieger syndrome.
TextSentencer_T3 151-328 Sentence denotes Rieger syndrome is an autosomal-dominant human disorder characterized by glaucoma as well as dental hypoplasia, mild craniofacial dysmorphism, and umbilical stump abnormalities.
T3 151-328 Sentence denotes Rieger syndrome is an autosomal-dominant human disorder characterized by glaucoma as well as dental hypoplasia, mild craniofacial dysmorphism, and umbilical stump abnormalities.
TextSentencer_T4 329-440 Sentence denotes PITX2 has also been implicated in the development of multiple organs and left-right asymmetry in the body plan.
T4 329-440 Sentence denotes PITX2 has also been implicated in the development of multiple organs and left-right asymmetry in the body plan.
TextSentencer_T5 441-602 Sentence denotes The PITX2 homeodomain has a lysine at position 50, which has been shown to impart the bicoid-type (TAATCC) DNA binding specificity to other homeodomain proteins.
T5 441-602 Sentence denotes The PITX2 homeodomain has a lysine at position 50, which has been shown to impart the bicoid-type (TAATCC) DNA binding specificity to other homeodomain proteins.
TextSentencer_T6 603-695 Sentence denotes A mutation (K88E), found in a Rieger syndrome patient, changes this lysine to glutamic acid.
T6 603-695 Sentence denotes A mutation (K88E), found in a Rieger syndrome patient, changes this lysine to glutamic acid.
TextSentencer_T7 696-789 Sentence denotes We were intrigued by the relatively pronounced phenotypic consequences of this K88E mutation.
T7 696-789 Sentence denotes We were intrigued by the relatively pronounced phenotypic consequences of this K88E mutation.
TextSentencer_T8 790-1036 Sentence denotes In the initial analyses, the mutant protein appeared to simply be inactive, with essentially no DNA binding and transactivation activities and, unlike the wild type protein, with an inability to synergize with another transcription factor, Pit-1.
T8 790-1036 Sentence denotes In the initial analyses, the mutant protein appeared to simply be inactive, with essentially no DNA binding and transactivation activities and, unlike the wild type protein, with an inability to synergize with another transcription factor, Pit-1.
TextSentencer_T9 1037-1210 Sentence denotes However, when the K88E DNA was cotransfected with wild type PITX2, analogous to the patient genotype, the K88E mutant suppressed the synergism of wild type PITX2 with Pit-1.
T9 1037-1210 Sentence denotes However, when the K88E DNA was cotransfected with wild type PITX2, analogous to the patient genotype, the K88E mutant suppressed the synergism of wild type PITX2 with Pit-1.
TextSentencer_T10 1211-1409 Sentence denotes In contrast, a different PITX2 homeodomain mutant, T68P, which is also defective in DNA binding, transactivation, and Pit-1 synergism activities, did not suppress the wild type synergism with Pit-1.
T10 1211-1409 Sentence denotes In contrast, a different PITX2 homeodomain mutant, T68P, which is also defective in DNA binding, transactivation, and Pit-1 synergism activities, did not suppress the wild type synergism with Pit-1.
TextSentencer_T11 1410-1591 Sentence denotes These results describe the first dominant negative missense mutation in a homeodomain and support a model that may partially explain the phenotypic variation within Rieger syndrome.
T11 1410-1591 Sentence denotes These results describe the first dominant negative missense mutation in a homeodomain and support a model that may partially explain the phenotypic variation within Rieger syndrome.