TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

Laurent Fasano and colleagues identify TSHZ3 deletions in patients with autism spectrum disorder. Tshz3 -mutant mice show functional changes at synapses established by cortical projection neurons and exhibit autism-like behavioral patterns. TSHZ3 , which encodes a zinc-finger transcription factor, w...

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Veröffentlicht in:	Nature genetics 2016-11, Vol.48 (11), p.1359-1369
Hauptverfasser:	Caubit, Xavier, Gubellini, Paolo, Andrieux, Joris, Roubertoux, Pierre L, Metwaly, Mehdi, Jacq, Bernard, Fatmi, Ahmed, Had-Aissouni, Laurence, Kwan, Kenneth Y, Salin, Pascal, Carlier, Michèle, Liedén, Agne, Rudd, Eva, Shinawi, Marwan, Vincent-Delorme, Catherine, Cuisset, Jean-Marie, Lemaitre, Marie-Pierre, Abderrehamane, Fatimetou, Duban, Bénédicte, Lemaitre, Jean-François, Woolf, Adrian S, Bockenhauer, Detlef, Severac, Dany, Dubois, Emeric, Zhu, Ying, Sestan, Nenad, Garratt, Alistair N, Kerkerian-Le Goff, Lydia, Fasano, Laurent
Format:	Artikel
Sprache:	eng
Schlagworte:	14 38 631/136/368 631/208/200 631/378 64/60 692/699/375/366 82/51 Agriculture Animal Genetics and Genomics Animals Autism Autism Spectrum Disorder - genetics Autism Spectrum Disorder - pathology Biomedicine Brain research Cancer Research Cellular Biology Chromosome Deletion Chromosomes, Human, Pair 19 Cognitive science Defects Development and progression Development Biology Female Funding Gene Deletion Gene expression Gene Expression Regulation, Developmental Gene Function Gene mutation Genetic aspects Genomes Genomics Haploinsufficiency Health aspects Heterozygote Homeodomain Proteins - genetics Human Genetics Humans Informatics Life Sciences Male Mice Mice, Inbred CBA Neocortex - embryology Neocortex - pathology Neurogenesis - genetics Neurons Neurons - pathology Neurons and Cognition Patients Pervasive developmental disorders Proteins Psychology Studies Synapses - genetics Transcription factors Transcription Factors - genetics
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