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Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia
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In: ISSN: 1359-4184 ; EISSN: 1476-5578 ; Molecular Psychiatry ; https://hal.archives-ouvertes.fr/hal-02976104 ; Molecular Psychiatry, Nature Publishing Group, 2020, ⟨10.1038/s41380-020-00898-x⟩ (2020)
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Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia
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In: ISSN: 2158-3188 ; EISSN: 2158-3188 ; Translational Psychiatry ; https://hal.archives-ouvertes.fr/hal-02158502 ; Translational Psychiatry, Nature Pub. Group, 2019, 9, pp.77. ⟨10.1038/s41398-019-0402-0⟩ (2019)
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Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia ...
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Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia
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In: Translational Psychiatry, 9 (1) (2019)
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Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia
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Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia
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Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort
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Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort
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Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort
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Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort
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Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort.
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In: ISSN: 1018-4813 ; EISSN: 1476-5438 ; European Journal of Human Genetics ; https://hal.archives-ouvertes.fr/hal-00964958 ; European Journal of Human Genetics, Nature Publishing Group, 2013, epub ahead of print. ⟨10.1038/ejhg.2013.199⟩ (2013)
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The Aromatase Gene CYP19A1: Several Genetic and Functional Lines of Evidence Supporting a Role in Reading, Speech and Language
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Anthoni, Heidi; Sucheston, Lara E.; Lewis, Barbara A.; Tapia-Páez, Isabel; Fan, Xiaotang; Zucchelli, Marco; Taipale, Mikko; Stein, Catherine M.; Hokkanen, Marie-Estelle; Castrén, Eero; Pennington, Bruce F.; Smith, Shelley D.; Olson, Richard K.; Tomblin, J. Bruce; Schulte-Körne, Gerd; Nöthen, Markus; Schumacher, Johannes; Müller-Myhsok, Bertram; Hoffmann, Per; Gilger, Jeffrey W.; Hynd, George W.; Nopola-Hemmi, Jaana; Leppanen, Paavo H. T.; Lyytinen, Heikki; Schoumans, Jacqueline; Nordenskjöld, Magnus; Spencer, Jason; Stanic, Davor; Boon, Wah Chin; Simpson, Evan; Mäkelä, Sari; Gustafsson, Jan-Åke; Peyrard-Janvid, Myriam; Iyengar, Sudha; Kere, Juha. - : Springer US, 2012
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Abstract:
Inspired by the localization, on 15q21.2 of the CYP19A1 gene in the linkage region of speech and language disorders, and a rare translocation in a dyslexic individual that was brought to our attention, we conducted a series of studies on the properties of CYP19A1 as a candidate gene for dyslexia and related conditions. The aromatase enzyme is a member of the cytochrome P450 super family, and it serves several key functions: it catalyzes the conversion of androgens into estrogens; during early mammalian development it controls the differentiation of specific brain areas (e.g. local estrogen synthesis in the hippocampus regulates synaptic plasticity and axonal growth); it is involved in sexual differentiation of the brain; and in songbirds and teleost fishes, it regulates vocalization. Our results suggest that variations in CYP19A1 are associated with dyslexia as a categorical trait and with quantitative measures of language and speech, such as reading, vocabulary, phonological processing and oral motor skills. Variations near the vicinity of its brain promoter region altered transcription factor binding, suggesting a regulatory role in CYP19A1 expression. CYP19A1 expression in human brain correlated with the expression of dyslexia susceptibility genes such as DYX1C1 and ROBO1. Aromatase-deficient mice displayed increased cortical neuronal density and occasional cortical heterotopias, also observed in Robo1−/− mice and human dyslexic brains, respectively. An aromatase inhibitor reduced dendritic growth in cultured rat neurons. From this broad set of evidence, we propose CYP19A1 as a candidate gene for human cognitive functions implicated in reading, speech and language.
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Keyword:
Original Research
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URL: https://doi.org/10.1007/s10519-012-9532-3
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3375077
http://www.ncbi.nlm.nih.gov/pubmed/22426781
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