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- Gong, Xiaohong, et al.
(author)
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An investigation of ribosomal protein L10 gene in autism spectrum disorders.
- 2009
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In: BMC Medical Genetics. - : Springer Science and Business Media LLC. - 1471-2350. ; 10
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Journal article (peer-reviewed)abstract
- BACKGROUND: Autism spectrum disorders (ASD) are severe neurodevelopmental disorders with the male:female ratio of 4:1, implying the contribution of X chromosome genetic factors to the susceptibility of ASD. The ribosomal protein L10 (RPL10) gene, located on chromosome Xq28, codes for a key protein in assembling large ribosomal subunit and protein synthesis. Two non-synonymous mutations of RPL10, L206M and H213Q, were identified in four boys with ASD. Moreover, functional studies of mutant RPL10 in yeast exhibited aberrant ribosomal profiles. These results provided a novel aspect of disease mechanisms for autism - aberrant processes of ribosome biosynthesis and translation. To confirm these initial findings, we re-sequenced RPL10 exons and quantified mRNA transcript level of RPL10 in our samples. METHODS: 141 individuals with ASD were recruited in this study. All RPL10 exons and flanking junctions were sequenced. Furthermore, mRNA transcript level of RPL10 was quantified in B lymphoblastoid cell lines (BLCL) of 48 patients and 27 controls using the method of SYBR Green quantitative PCR. Two sets of primer pairs were used to quantify the mRNA expression level of RPL10: RPL10-A and RPL10-B. RESULTS: No non-synonymous mutations were detected in our cohort. Male controls showed similar transcript level of RPL10 compared with female controls (RPL10-A, U=81, P=0.7; RPL10-B, U=61.5, P=0.2). We did not observe any significant difference in RPL10 transcript levels between cases and controls (RPL10-A, U=531, P=0.2; RPL10-B, U=607.5, P=0.7). CONCLUSION: Our results suggest that RPL10 has no major effect on the susceptibility to ASD.
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| 2. |
- Gong, Xiaohong, et al.
(author)
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Analysis of X chromosome inactivation in autism spectrum disorders.
- 2008
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In: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. - : Wiley. - 1552-485X .- 1552-4841. ; 147B:6, s. 830-835
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Journal article (peer-reviewed)abstract
- Autism spectrum disorders (ASD) are complex genetic disorders more frequently observed in males. Skewed X chromosome inactivation (XCI) is observed in heterozygous females carrying gene mutations involved in several X-linked syndromes. In this study, we aimed to estimate the role of X-linked genes in ASD susceptibility by ascertaining the XCI pattern in a sample of 543 informative mothers of children with ASD and in a sample of 163 affected girls. The XCI pattern was also determined in two control groups (144 adult females and 40 young females) with a similar age distribution to the mothers sample and affected girls sample, respectively. We observed no significant excess of skewed XCI in families with ASD. Interestingly, two mothers and one girl carrying known mutations in X-linked genes (NLGN3, ATRX, MECP2) showed highly skewed XCI, suggesting that ascertainment of XCI could reveal families with X-linked mutations. Linkage analysis was carried out in the subgroup of multiplex families with skewed XCI (> or = 80:20) and a modest increased allele sharing was obtained in the Xq27-Xq28 region, with a peak Z-score of 1.75 close to rs719489. In summary, our results suggest that there is no major X-linked gene subject to XCI and expressed in blood cells conferring susceptibility to ASD. However, the possibility that rare mutations in X-linked genes could contribute to ASD cannot be excluded. We propose that the XCI profile could be a useful criteria to prioritize families for mutation screening of X-linked candidate genes.
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| 3. |
- Huang, Dan, et al.
(author)
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Infrared Drying Characteristics and Quality Variations of Lily Bulbs Under Blanching Pretreatment
- 2022
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In: Journal of Thermal Science and Engineering Applications. - : ASME International. - 1948-5085 .- 1948-5093. ; 14:9
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Journal article (peer-reviewed)abstract
- Infrared drying characteristics and quality variations (color change, hardness, contents of polyphenol and flavonoid) of lily bulbs under blanching pretreatment are investigated. Influences of parameters such as pretreatment temperature and time and infrared drying temperature are discussed. Effective moisture diffusivity coefficient, activation energy, and energy consumption were calculated. Results showed that drying time was reduced by 62.5%, 56.3%, and 61.5% at 90 °C compared to 60 °C when blanching time was 4, 5, and 6 min, respectively. A blanching time of 5 min and drying temperature of 70 °C were ideal for pretreatment and drying to maintain good color quality. Hardness value of lily bulb decreased as drying temperature and blanching time increased. Seventy to eighty degree celcius was ideal drying condition to maintain good hardness quality. Blanching time and drying temperature differently affected contents of flavonoids and polyphenols of lily bulbs. Basically, when blanching time was relatively long and drying temperature was relatively high, the content of polyphenols was high.
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