| http://purl.uniprot.org/citations/24172247 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24172247 | http://www.w3.org/2000/01/rdf-schema#comment | "Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disease in children caused by homozygous deletion of the survival motor neuron 1 gene (SMN1). Plastin 3 (PLS3) has been identified as a protective modifier of SMA. We analyzed the levels of PLS3 expression in peripheral blood from 65 children with SMA and 59 healthy controls by using real-time PCR. In healthy controls, younger children (3 years) showed >1.75-fold higher levels of PLS3 expression than did older child cohorts (∼3-6 years, ∼6-12 years and >12 years). In the older female subjects with SMA (>3 years), PLS3 expression was 56.7% lower in type II subjects than in type III patients (P=0.011). When these female subjects carried three copies of SMN2, PLS3 expression was 62.6% lower in the type II subjects than in type III subjects (P=0.008). Moreover, there was a trend toward higher PLS3 expression in older female patients who could walk unaided (>3 years and SMN2 copy number=3) than those who could not. However, these differences were not observed in male subjects examined by SMA clinical type and SMN2 copy number (P>0.05). We concluded that the PLS3 gene may have an age- and gender-specific role in the clinical severity of SMA in children afflicted with this condition."xsd:string |
| http://purl.uniprot.org/citations/24172247 | http://purl.org/dc/terms/identifier | "doi:10.1038/jhg.2013.111"xsd:string |
| http://purl.uniprot.org/citations/24172247 | http://purl.uniprot.org/core/author | "Hong W."xsd:string |
| http://purl.uniprot.org/citations/24172247 | http://purl.uniprot.org/core/author | "Fang S."xsd:string |
| http://purl.uniprot.org/citations/24172247 | http://purl.uniprot.org/core/author | "Yanyan C."xsd:string |
| http://purl.uniprot.org/citations/24172247 | http://purl.uniprot.org/core/author | "Jinli B."xsd:string |
| http://purl.uniprot.org/citations/24172247 | http://purl.uniprot.org/core/author | "Yujin Q."xsd:string |
| http://purl.uniprot.org/citations/24172247 | http://purl.uniprot.org/core/author | "Yuwei J."xsd:string |
| http://purl.uniprot.org/citations/24172247 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24172247 | http://purl.uniprot.org/core/name | "J Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/24172247 | http://purl.uniprot.org/core/pages | "24-27"xsd:string |
| http://purl.uniprot.org/citations/24172247 | http://purl.uniprot.org/core/title | "Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy."xsd:string |
| http://purl.uniprot.org/citations/24172247 | http://purl.uniprot.org/core/volume | "59"xsd:string |
| http://purl.uniprot.org/citations/24172247 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24172247 |
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