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Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.

Bianco AM1, Faletra F1, Vozzi D1, Girardelli M1, Knowles A1, Tommasini A1, Zauli G1, Marcuzzi A1.
Molecular medicine reports.Mol Med Rep.2015 Oct;12(4):6128-6132. doi: 10.3892/mmr.2015.4215. Epub 2015 Aug 11.
Next-generation sequencing (NGS) has generated a large amount of sequence data with the requirement of frequent critical revisions of reported mutations. This innovative tool has proved to be effective in detecting pathogenic mutations; however, it requires a certain degree of experience to identify
PMID 26300074

Pintacuda G1, Cerase A.
Stem cell reviews.Stem Cell Rev.2015 Oct;11(5):699-705. doi: 10.1007/s12015-015-9597-5.
X chromosome inactivation (XCI) is the dosage compensation mechanism that evolved in female mammals to correct the genetic imbalance of X-linked genes between sexes. X chromosome inactivation occurs in early development when one of the two X chromosomes of females is nearly-completely silenced. Diff
PMID 26198263

Histone H3 lysine 36 tri-methylation is established over the Xist promoter by antisense Tsix transcription and contributes to repressing Xist expression.

Ohhata T1, Matsumoto M2, Leeb M3, Shibata S4, Sakai S2, Kitagawa K2, Niida H2, Kitagawa M5, Wutz A6.
Molecular and cellular biology.Mol Cell Biol.2015 Sep 14. pii: MCB.00561-15. [Epub ahead of print]
One of the two X chromosomes in female mammals is inactivated by the noncoding Xist RNA. In mice, X chromosome inactivation (XCI) is regulated by the antisense RNA Tsix that represses Xist on the active X chromosome. In the absence of Tsix, PRC2-mediated histone H3 lysine 27 tri-methylation (H3K27me
PMID 26370508

Potential Mechanisms of Aberrant DNA Hypomethylation on the X Chromosome in Uterine Leiomyomas

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Journal of Reproduction and Development 60(1), 47-54, 2014
… We also analyzed the aberration of the X chromosome inactivation (XCI) mechanism in uterine leiomyomas. … The expression analysis of XCI-related genes revealed that the XIST and SATB1 expression was downregulated in 36% and 46% of 11 leiomyoma specimens, respectively, while the HNRNPU and SMCHD1 expression was not altered. …
NAID 130003381861

Effect of fetal exposure to bisphenol A on brain mediated by X-chromosome inactivation

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The Journal of Toxicological Sciences 38(3), 485-494, 2013
… For females, most of expressions of X-linked genes are regulated by X-chromosome inactivation (XCI), which occurs during fetal period, and this mechanism is regulated by Xist and its antisense, Tsix. … Postnatally at days 2, 4 and weeks 3 and 7, mRNA expression of XCI-regulating factors (Xist and Tsix), X-linked neurodevelopment-related genes (Fmr1, Gdi1, Nlgn3, Pak3 and Ophn1), and sexual differentiation-related genes (ERα, ERβ and AR) were examined in cerebrums of female pups. …
NAID 130004724066

Fetal exposure to diesel exhaust affects X-chromosome inactivation factor expression in mice

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The Journal of Toxicological Sciences 38(2), 245-254, 2013
… The possibility of avoiding X-chromosome inactivation (XCI) mechanisms by minimizing exposure to DE is expected. …
NAID 130004447039

リンク元	「X染色体不活化」
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