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| Zhou,Yong-An; Ma,Yun-Xia; Zhang,Quan-Bin; Gao,Wei-Hua; Liu,Jian-Ping; Yang,Jian-Ping; Zhang,Gai-Xiu; Zhang,Xiao-Gang; Yu,Liang. |
| The variation in mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase (PAH) gene was investigated in 59 children with phenylketonuria (PKU) and 100 normal children. Three single nucleotide polymorphisms were detected by sequence analysis. The mutational frequencies of cDNA 696, cDNA 735 and cDNA 1155 in patients were 96.2%, 76.1% and 7.6%, respectively, whereas in healthy children the corresponding frequencies were 97.0%, 77.3% and 8.3%. In addition, 81 mutations accounted for 61.0% of the mutant alleles. R111X, H64 > TfsX9 and S70 del accounted for 5.1%, 0.8% and 0.8% mutation of alleles in exon 3, whereas EX6-96A > G accounted for 10.2% mutation of alleles in exon 6. R243Q had the highest incidence in exon 7 (12.7%), followed by... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Gene mutation; Phenylalanine hydroxylase; Phenylketonuria. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500001 |
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| Yu,Liang; Cao,Binbin; Long,Ying; Tukayo,Meks; Feng,Chonglv; Fang,Wenzhen; Luo,Damin. |
| Abstract The mechanisms involved in the fast growth of Angiostrongylus cantonensis from fifth-stage larvae (L5) to female adults and how L5 breaks through the blood-brain barrier in a permissive host remain unclear. In this work, we compared the transcriptomes of these two life stages to identify the main factors involved in the rapid growth and transition to adulthood. RNA samples from the two stages were sequenced and assembled de novo. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses of 1,346 differentially expressed genes between L5 and female adults was then undertaken. Based on a combination of analytical results and developmental characteristics, we suggest that A. cantonensis synthesizes a large amount of cuticle in L5 to... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Comparative transcriptomes; Cuticle synthesis; Lysine degradation; Lysosomal pathway; Metallopeptidases. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300540 |
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