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PubMed:17951029 JSONTXT 34 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-91 Sentence denotes Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.
T1 0-91 Sentence denotes Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.
TextSentencer_T2 92-103 Sentence denotes BACKGROUND:
T2 92-103 Sentence denotes BACKGROUND:
TextSentencer_T3 104-212 Sentence denotes Focal dermal hypoplasia (FDH) (OMIM 305600) is an X-linked dominant disorder of ecto-mesodermal development.
T3 104-212 Sentence denotes Focal dermal hypoplasia (FDH) (OMIM 305600) is an X-linked dominant disorder of ecto-mesodermal development.
TextSentencer_T4 213-384 Sentence denotes Also known as Goltz syndrome, FDH presents with characteristic linear streaks of hypoplastic dermis and variable abnormalities of bone, nails, hair, limbs, teeth and eyes.
T4 213-384 Sentence denotes Also known as Goltz syndrome, FDH presents with characteristic linear streaks of hypoplastic dermis and variable abnormalities of bone, nails, hair, limbs, teeth and eyes.
TextSentencer_T5 385-582 Sentence denotes The molecular basis of FDH involves mutations in the PORCN gene, which encodes an enzyme that allows membrane targeting and secretion of several Wnt proteins critical for normal tissue development.
T5 385-582 Sentence denotes The molecular basis of FDH involves mutations in the PORCN gene, which encodes an enzyme that allows membrane targeting and secretion of several Wnt proteins critical for normal tissue development.
TextSentencer_T6 583-594 Sentence denotes OBJECTIVES:
T6 583-594 Sentence denotes OBJECTIVES:
TextSentencer_T7 595-877 Sentence denotes To investigate the molecular basis of FDH in a 2-year-old Thai girl who presented at birth with depressed, pale linear scars on the trunk and limbs, sparse brittle hair, syndactyly of the right middle and ring fingers, dental caries and radiological features of osteopathia striata.
T7 595-877 Sentence denotes To investigate the molecular basis of FDH in a 2-year-old Thai girl who presented at birth with depressed, pale linear scars on the trunk and limbs, sparse brittle hair, syndactyly of the right middle and ring fingers, dental caries and radiological features of osteopathia striata.
TextSentencer_T8 878-886 Sentence denotes METHODS:
T8 878-886 Sentence denotes METHODS:
TextSentencer_T9 887-1008 Sentence denotes Sequencing of genomic DNA from the affected individual and both parents to search for pathogenic mutations in PORCN gene.
T9 887-1008 Sentence denotes Sequencing of genomic DNA from the affected individual and both parents to search for pathogenic mutations in PORCN gene.
TextSentencer_T10 1009-1205 Sentence denotes RESULTS: DNA sequencing disclosed a heterozygous G>T substitution at nucleotide c.898 within exon 10 (NM_203475.1), converting a glutamic acid residue (GAA) to a premature termination codon (TAA).
T10 1009-1205 Sentence denotes RESULTS: DNA sequencing disclosed a heterozygous G>T substitution at nucleotide c.898 within exon 10 (NM_203475.1), converting a glutamic acid residue (GAA) to a premature termination codon (TAA).
TextSentencer_T11 1206-1314 Sentence denotes This mutation, designated p.E300X, was not detected in DNA from either parent or in 100 control chromosomes.
T11 1206-1314 Sentence denotes This mutation, designated p.E300X, was not detected in DNA from either parent or in 100 control chromosomes.
TextSentencer_T12 1315-1326 Sentence denotes CONCLUSION:
T12 1315-1326 Sentence denotes CONCLUSION:
TextSentencer_T13 1327-1517 Sentence denotes Identification of this new de novo nonsense mutation confirms the diagnosis of FDH in this child and highlights the clinical importance of PORCN and Wnt signalling pathways in embryogenesis.
T13 1327-1517 Sentence denotes Identification of this new de novo nonsense mutation confirms the diagnosis of FDH in this child and highlights the clinical importance of PORCN and Wnt signalling pathways in embryogenesis.