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An investigation of NFXL1, a gene implicated in a study of specific language impairment / R. NUDEL in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
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Titre : An investigation of NFXL1, a gene implicated in a study of specific language impairment Type de document : Texte imprimé et/ou numérique Auteurs : R. NUDEL, Auteur Article en page(s) : p.13 Langues : Anglais (eng) Mots-clés : Cerebellum Language disorder Nfxl1 Neurodevelopment Neurogenetics Specific language impairment Transcription factor Index. décimale : PER Périodiques Résumé : BACKGROUND: A recent study identified NFXL1 as a candidate gene for specific language impairment. The protein encoded by this gene is predicted to be a transcription factor based on domain similarities with NFX1, a repressor of HLA class II genes, which have themselves been implicated in specific language impairment. However, there is very little literature on the function of NFXL1. METHODS: This report describes a study of NFXL1 expression in several human tissues and an investigation of differential expression in several specific brain regions through quantitative PCR as well as a study of the protein's sub-cellular localization in HEK cells and SH-SY5Y cells through immunofluorescence. RESULTS: The NFXL1 transcript was found in all investigated tissues. In the brain, a high level of NFXL1 expression was found in the cerebellum. An analysis of the sub-cellular localization of the protein showed a cytoplasmic pattern in the investigated cells. CONCLUSIONS: The NFXL1 transcript was present in samples from different tissues; in the brain, a high expression level was found in a region implicated in some language-related pathologies. NFXL1 did not show nuclear localization, suggesting that, if it regulates transcription, certain conditions may be required for it to translocate to the nucleus. En ligne : http://dx.doi.org/10.1186/s11689-016-9146-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.13[article] An investigation of NFXL1, a gene implicated in a study of specific language impairment [Texte imprimé et/ou numérique] / R. NUDEL, Auteur . - p.13.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.13
Mots-clés : Cerebellum Language disorder Nfxl1 Neurodevelopment Neurogenetics Specific language impairment Transcription factor Index. décimale : PER Périodiques Résumé : BACKGROUND: A recent study identified NFXL1 as a candidate gene for specific language impairment. The protein encoded by this gene is predicted to be a transcription factor based on domain similarities with NFX1, a repressor of HLA class II genes, which have themselves been implicated in specific language impairment. However, there is very little literature on the function of NFXL1. METHODS: This report describes a study of NFXL1 expression in several human tissues and an investigation of differential expression in several specific brain regions through quantitative PCR as well as a study of the protein's sub-cellular localization in HEK cells and SH-SY5Y cells through immunofluorescence. RESULTS: The NFXL1 transcript was found in all investigated tissues. In the brain, a high level of NFXL1 expression was found in the cerebellum. An analysis of the sub-cellular localization of the protein showed a cytoplasmic pattern in the investigated cells. CONCLUSIONS: The NFXL1 transcript was present in samples from different tissues; in the brain, a high expression level was found in a region implicated in some language-related pathologies. NFXL1 did not show nuclear localization, suggesting that, if it regulates transcription, certain conditions may be required for it to translocate to the nucleus. En ligne : http://dx.doi.org/10.1186/s11689-016-9146-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348