Добірка наукової літератури з теми "SNORD115"
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Статті в журналах з теми "SNORD115":
Falaleeva, Marina, Carlos R. Sulsona, Horst R. Zielke, Kathleen M. Currey, Pierre de la Grange, Vahid Aslanzadeh, Daniel J. Driscoll, and Stefan Stamm. "Molecular Characterization of a Patient Presumed to Have Prader-Willi Syndrome." Clinical Medicine Insights: Case Reports 6 (January 2013): CCRep.S11510. http://dx.doi.org/10.4137/ccrep.s11510.
Falaleeva, Marina, Justin Surface, Manli Shen, Pierre de la Grange, and Stefan Stamm. "SNORD116 and SNORD115 change expression of multiple genes and modify each other's activity." Gene 572, no. 2 (November 2015): 266–73. http://dx.doi.org/10.1016/j.gene.2015.07.023.
DE ROO, A., B. FOETS, and J. VAN DEN OORD. "FRO 2014: The pathophysiologic role of SNORD115 and SNORD116 in late-onset Fuchs' endothelial corneal dystrophy." Acta Ophthalmologica 92 (August 20, 2014): 0. http://dx.doi.org/10.1111/j.1755-3768.2014.4663.x.
Ronchetti, Domenica, Katia Todoerti, Giacomo Tuana, Luca Agnelli, Laura Mosca, Marta Lionetti, Sonia Fabris, et al. "The Expression Pattern of Small Nucleolar and Small Cajal Body-Specific RNAs Characterizes Distinct Molecular Subtypes of Multiple Myeloma." Blood 120, no. 21 (November 16, 2012): 3955. http://dx.doi.org/10.1182/blood.v120.21.3955.3955.
Glatt-Deeley, Heather, Daria L. Bancescu, and Marc Lalande. "Prader–Willi syndrome, Snord115, and Htr2c editing." neurogenetics 11, no. 1 (August 4, 2009): 143–44. http://dx.doi.org/10.1007/s10048-009-0209-x.
Bortolin-Cavaille, M. L., and J. Cavaille. "The SNORD115 (H/MBII-52) and SNORD116 (H/MBII-85) gene clusters at the imprinted Prader-Willi locus generate canonical box C/D snoRNAs." Nucleic Acids Research 40, no. 14 (April 11, 2012): 6800–6807. http://dx.doi.org/10.1093/nar/gks321.
Davies, Jennifer R., Lawrence S. Wilkinson, Anthony R. Isles, and Trevor Humby. "Prader–Willi syndrome imprinting centre deletion mice have impaired baseline and 5-HT2CR-mediated response inhibition." Human Molecular Genetics 28, no. 18 (May 14, 2019): 3013–23. http://dx.doi.org/10.1093/hmg/ddz100.
Kocher, Matthew A., Fenix W. Huang, Erin Le, and Deborah J. Good. "Snord116 Post-transcriptionally Increases Nhlh2 mRNA Stability: Implications for Human Prader-Willi Syndrome." Human Molecular Genetics 30, no. 12 (April 15, 2021): 1101–10. http://dx.doi.org/10.1093/hmg/ddab103.
Langouët, Maéva, Dea Gorka, Clarisse Orniacki, Clémence M. Dupont-Thibert, Michael S. Chung, Heather R. Glatt-Deeley, Noelle Germain, et al. "Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons." Human Molecular Genetics 29, no. 19 (September 25, 2020): 3285–95. http://dx.doi.org/10.1093/hmg/ddaa210.
Zhang, Cong, Lian-mei Zhao, Hao Wu, Guo Tian, Su-li Dai, Ri-yang Zhao, and Bao-en Shan. "C/D-Box Snord105b Promotes Tumorigenesis in Gastric Cancer via ALDOA/C-Myc Pathway." Cellular Physiology and Biochemistry 45, no. 6 (2018): 2471–82. http://dx.doi.org/10.1159/000488265.
Дисертації з теми "SNORD115":
Hebras, Jade. "Caractérisation moléculaire du petit ARN nucléolaire SNORD115 : un rôle dans la régulation de l'expression et de la fonction du récepteur à la sérotonine 5-HT2C ?" Thesis, Toulouse 3, 2020. http://www.theses.fr/2020TOU30209.
The nucleolus of mammalian cells contains hundreds of box C/D small nucleolar RNAs (SNORDs). Majority of them, guide sequence-specific 2'-O ribose methylations into ribosomal RNA (rRNA). Some of them facilitate RNA folding and cleavages of ribosomal RNA precursors or guide ribose methylations into spliceosomal small nuclear RNA U6. Recent studies propose that some SNORD could target other transcripts, possibly messenger RNA as suggested by the brain-specific SNORD115. SNORD115 is processed from tandemly repeated genes embedded in the imprinted SNURF-SNRPN domain. Defects in gene expression at this domain are causally linked to rare disease: the Prader-Willi Syndrome (PWS). Excitingly, SNORD115 displays an extensive region of complementary to a brain-specific mRNA encoding the serotonin receptor 5-HT2C. SNORD115 could influence 5-HT2C signaling by fine-tuning alternative splicing or A to I RNA editing of 5-HT2C pre-mRNA. Reduced 5-HT2C receptor activity could contribute to impaired emotional response and/or compulsive overeating that characterized the syndrome. My work was to test this hypothesis using a CRISPR/Cas9-mediated SNORD115 knockout mouse model. My results show that loss of SNORD115 expression, in vivo, does not alter the post-transcriptional regulation of 5-HT2C pre-mRNA processing. Others results from the team do not reveal any defects in anxio-depressive phenotypes and eating behaviour. Our study questions the regulatory roles of SNORD115 in brain functions and behavioural disturbance associated with PWS. On other hand, I have studied ribose methylation sites in rRNA from mouse tissues. This work was included in emerging field of the specialized ribosome hypothesis which suggests heterogeneity in ribosomes may impact activity of ribosomes. Our results show significant changes at few discrete set of sites, especially in rRNA from developing tissues. Also, rRNA from developing tissues is globally less methylated than rRNA from adult tissues. We focus on LSU-Gm4593 site because this position is specifically methylated only during development and hardly ever detected in adult tissues. Methylation at LSU-G4593 is guided by SNORD78. We propose that the expression levels of SNORD78 during development appeared to be regulated by alternative splicing of the host-gene and to correlate with the methylation level of its target site at LSU-G4593. We've used a human cell line (HEK293T) inactivated for the SNORD78 gene in order to understand the functionally role of the corresponding ribose methylation. Our work did not demonstrate any overt cellular phenotypes, even though translation fidelity and the precise function of LSU-Gm4593 remains unknown
Purmann, Carolin. "The role of SNORD116 in Prader-Willi syndrome." Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610424.
Cruvinel, Estela Mitie. "Estudo da expressão diferencial de genes localizados no segmento cromossômico 15q11-q13 em pacientes com as síndromes de Angelman e Prader-Willi." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-24092015-133351/.
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder. Loss of paternal copies of the cluster of SNORD116 C/D box snoRNAs and their host transcript, 116HG, on human chromosome 15q11-q13 imprinted region is considered to be the major responsible for PWS. PWS-imprinting center (PWS-IC) regulates 15q11-q13 imprinting. PWS-IC is located upstream and in the exon 1 of SNURF-SNRPN gene. In mice, Zfp57 plays an important role in establishment and maintenance of Snrpn imprinting. In human, ENCODE database indicates that ZNF274 binds to SNORD116. Moreover, ZNF274 are C2H2/KRAB zinc finger proteins as Zfp57. We have investigated the mechanism of repression of the maternal SNORD116. Here, we report that the ZNF274, in association with the histone H3 lysine 9 (H3K9) methyltransferase SETDB1, is part of a complex that binds to the silent maternal but not to the active paternal alleles in induced pluripotent stem cells (iPSCs). Knockdown of SETDB1 in PWS-specific iPSCs causes a decrease in the accumulation of H3K9 trimethylation (H3K9me3) at SNORD116. We also show that upon knockdown of SETDB1 in PWS-specific iPSCs, expression of maternally silenced 116HG RNA is partially restored. SETDB1 knockdown in PWS iPSCs also disrupts DNA methylation at the PWS-IC where a decrease in 5-methylcytosine is observed in association with a concomitant increase in 5-hydroxymethylcytosine. In iPSCs-derived neurons and stem cells from human exfoliated teeth (SHEDs) ZNF274/SETDB1 complex binding and H3K9me3 modification occur in both alleles. These observations suggest that the ZNF274/SETDB1 complex bound to the SNORD116 cluster may protect the PWS-IC from DNA demethylation during early development, as indicated by iPSCs. Our findings reveal novel epigenetic mechanisms that function to repress the maternal 15q11-q13 region. The better understanding of epigenetic mechanisms provides new tools for future therapy research.
Eddiry, Sanaa. "Rôle du SNORD116 et de l'IGFBP7 dans la réponse à l'IGF1 dans le syndrome de Prader-Willi." Toulouse 3, 2013. http://www.theses.fr/2013TOU30215.
Prader-willi syndrome (PWS) is a complex genetic disease of neurodevelopment that arises from lack of expression of paternally imprinted genes on chromosome 15q11-q13. GH levels are low in PWS, and GH treatment is recommended. The current management of PWS patients includes early treatment by growth hormone (GH). We demonstrated that GH treatment of PWS patients is associated with elevated IGF1 levels. Human chromosome 15q11-q13 contains an imprinting control region, which when deleted is sufficient to cause PWS. In addition, human genetic studies have defined a minimal PWS gene locus including a cluster of paternally expressed small nucleolar RNA (snoRNA), within the SNORD116. This makes PWS the first human disease found to be caused by loss of non-coding RNA. Our results showed increased sensitivity to IGF1 and Insulin in PWS cells. These cells demonstrate also increased proliferation rate and decreased senescence. From multi-array and RT-qPCR analysis, expression of IGFBP7, an important antiproliferative factor, was dramatically decreased in those patients. IGFBP7 is known to interact with IGF1 and Insulin receptors to decrease their action. We demonstrated that the lack of expression of SNORD116 in this patient results in increased response to IGF1 and Insulin and highly decreased secretion of IGFBP7. Therefore lack of SNORD116 results in high proliferation rate and decreased senescence in PWS, with decreased IGFBP7 secretion. Finally, we found that the increase of IGF1 level was significantly correlated with the decrease of IGFBP7 level in the serum of PWS children treated one year with GH. These data suggest that the lack of SNORD116 expression results in increased responsiveness to growth factors due to a low level of IGFBP7 in cells of PWS patients. They highlight a new phenotype of PWS, modified IGFBP7 levels, which, given the properties of IGFBP7 as a strong regulator of IGF1 effect, has potential consequences on the management of PWS patients treated by GH
Cole, Lisa. "The Role of SNORD116 in the Neuromolecular Pathogenesis of the Prader-Willi Syndrome." Thesis, 2016. https://doi.org/10.7916/D8XW4K0X.
Частини книг з теми "SNORD115":
Duis, Jessica. "Behavioral Complications Associated With Snord116 Deletion in Prader-Willi Syndrome." In Encyclopedia of Behavioral Neuroscience, 2nd edition, 307–12. Elsevier, 2022. http://dx.doi.org/10.1016/b978-0-12-819641-0.00094-3.