Ontology type: schema:ScholarlyArticle Open Access: True
2019-12
AUTHORSLaura Gouder, Aline Vitrac, Hany Goubran-Botros, Anne Danckaert, Jean-Yves Tinevez, Gwenaëlle André-Leroux, Ekaterina Atanasova, Nathalie Lemière, Anne Biton, Claire S. Leblond, Aurélie Poulet, Anne Boland, Jean-François Deleuze, Alexandra Benchoua, Richard Delorme, Thomas Bourgeron, Isabelle Cloëz-Tayarani
ABSTRACTThe synaptic protein SHANK3 encodes a multidomain scaffold protein expressed at the postsynaptic density of neuronal excitatory synapses. We previously identified de novo SHANK3 mutations in patients with autism spectrum disorders (ASD) and showed that SHANK3 represents one of the major genes for ASD. Here, we analyzed the pyramidal cortical neurons derived from induced pluripotent stem cells from four patients with ASD carrying SHANK3 de novo truncating mutations. At 40-45 days after the differentiation of neural stem cells, dendritic spines from pyramidal neurons presented variable morphologies: filopodia, thin, stubby and muschroom, as measured in 3D using GFP labeling and immunofluorescence. As compared to three controls, we observed a significant decrease in SHANK3 mRNA levels (less than 50% of controls) in correlation with a significant reduction in dendritic spine densities and whole spine and spine head volumes. These results, obtained through the analysis of de novo SHANK3 mutations in the patients' genomic background, provide further support for the presence of synaptic abnormalities in a subset of patients with ASD. More... »
PAGES94
http://scigraph.springernature.com/pub.10.1038/s41598-018-36993-x
DOIhttp://dx.doi.org/10.1038/s41598-018-36993-x
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1111273944
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/30643170
JSON-LD is the canonical representation for SciGraph data.
TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT
[
{
"@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json",
"about": [
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1109",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Neurosciences",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Medical and Health Sciences",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Paris Diderot University",
"id": "https://www.grid.ac/institutes/grid.7452.4",
"name": [
"Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France",
"CNRS UMR 3571 \u00ab Genes, Synapses and Cognition \u00bb, Institut Pasteur, Paris, France",
"Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Human Genetics and Cognitive Functions, Paris, France"
],
"type": "Organization"
},
"familyName": "Gouder",
"givenName": "Laura",
"id": "sg:person.01145770054.64",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01145770054.64"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Paris Diderot University",
"id": "https://www.grid.ac/institutes/grid.7452.4",
"name": [
"Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France",
"CNRS UMR 3571 \u00ab Genes, Synapses and Cognition \u00bb, Institut Pasteur, Paris, France",
"Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Human Genetics and Cognitive Functions, Paris, France"
],
"type": "Organization"
},
"familyName": "Vitrac",
"givenName": "Aline",
"id": "sg:person.012471267674.52",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012471267674.52"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Paris Diderot University",
"id": "https://www.grid.ac/institutes/grid.7452.4",
"name": [
"Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France",
"CNRS UMR 3571 \u00ab Genes, Synapses and Cognition \u00bb, Institut Pasteur, Paris, France",
"Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Human Genetics and Cognitive Functions, Paris, France"
],
"type": "Organization"
},
"familyName": "Goubran-Botros",
"givenName": "Hany",
"id": "sg:person.0732536177.13",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0732536177.13"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institut Pasteur",
"id": "https://www.grid.ac/institutes/grid.428999.7",
"name": [
"Imagopole, Citech, Institut Pasteur, Paris, France"
],
"type": "Organization"
},
"familyName": "Danckaert",
"givenName": "Anne",
"id": "sg:person.0627766062.30",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0627766062.30"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institut Pasteur",
"id": "https://www.grid.ac/institutes/grid.428999.7",
"name": [
"Imagopole, Citech, Institut Pasteur, Paris, France"
],
"type": "Organization"
},
"familyName": "Tinevez",
"givenName": "Jean-Yves",
"id": "sg:person.01070244231.61",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01070244231.61"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre de Recherches de Jouy-en-Josas",
"id": "https://www.grid.ac/institutes/grid.417961.c",
"name": [
"MaIAGE, INRA, Universit\u00e9 Paris-Saclay, 78350, Jouy-en-Josas, France"
],
"type": "Organization"
},
"familyName": "Andr\u00e9-Leroux",
"givenName": "Gwena\u00eblle",
"id": "sg:person.0641667665.15",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641667665.15"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Paris Diderot University",
"id": "https://www.grid.ac/institutes/grid.7452.4",
"name": [
"Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France",
"CNRS UMR 3571 \u00ab Genes, Synapses and Cognition \u00bb, Institut Pasteur, Paris, France",
"Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Human Genetics and Cognitive Functions, Paris, France"
],
"type": "Organization"
},
"familyName": "Atanasova",
"givenName": "Ekaterina",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Paris Diderot University",
"id": "https://www.grid.ac/institutes/grid.7452.4",
"name": [
"Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France",
"CNRS UMR 3571 \u00ab Genes, Synapses and Cognition \u00bb, Institut Pasteur, Paris, France",
"Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Human Genetics and Cognitive Functions, Paris, France"
],
"type": "Organization"
},
"familyName": "Lemi\u00e8re",
"givenName": "Nathalie",
"id": "sg:person.0657736531.12",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0657736531.12"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institut Pasteur",
"id": "https://www.grid.ac/institutes/grid.428999.7",
"name": [
"Bioinformatics and Biostatistics Hub, C3BI, USR 3756 IP CNRS, Institut Pasteur, Paris, France"
],
"type": "Organization"
},
"familyName": "Biton",
"givenName": "Anne",
"id": "sg:person.012073267037.59",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012073267037.59"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Paris Diderot University",
"id": "https://www.grid.ac/institutes/grid.7452.4",
"name": [
"Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France",
"CNRS UMR 3571 \u00ab Genes, Synapses and Cognition \u00bb, Institut Pasteur, Paris, France",
"Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Human Genetics and Cognitive Functions, Paris, France"
],
"type": "Organization"
},
"familyName": "Leblond",
"givenName": "Claire S.",
"id": "sg:person.01353613665.29",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01353613665.29"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"CECS, I-STEM, AFM, 91030, Evry Cedex, France"
],
"type": "Organization"
},
"familyName": "Poulet",
"givenName": "Aur\u00e9lie",
"id": "sg:person.01004174625.09",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01004174625.09"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Centre National de Recherche en G\u00e9nomique Humaine (CNRGH), Institut de Biologie Fran\u00e7ois Jacob, CEA, Universit\u00e9 Paris-Saclay, F-91057, Evry, France"
],
"type": "Organization"
},
"familyName": "Boland",
"givenName": "Anne",
"id": "sg:person.01225067776.48",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225067776.48"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Centre National de Recherche en G\u00e9nomique Humaine (CNRGH), Institut de Biologie Fran\u00e7ois Jacob, CEA, Universit\u00e9 Paris-Saclay, F-91057, Evry, France"
],
"type": "Organization"
},
"familyName": "Deleuze",
"givenName": "Jean-Fran\u00e7ois",
"id": "sg:person.01060742025.61",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01060742025.61"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"CECS, I-STEM, AFM, 91030, Evry Cedex, France"
],
"type": "Organization"
},
"familyName": "Benchoua",
"givenName": "Alexandra",
"id": "sg:person.07673730237.28",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07673730237.28"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "H\u00f4pital Robert Debr\u00e9",
"id": "https://www.grid.ac/institutes/grid.413235.2",
"name": [
"Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France",
"Assistance Publique-H\u00f4pitaux de Paris, Robert Debr\u00e9 Hospital, Department of Child and Adolescent Psychiatry, Paris, France"
],
"type": "Organization"
},
"familyName": "Delorme",
"givenName": "Richard",
"id": "sg:person.0667140354.02",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0667140354.02"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Paris Diderot University",
"id": "https://www.grid.ac/institutes/grid.7452.4",
"name": [
"Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France",
"CNRS UMR 3571 \u00ab Genes, Synapses and Cognition \u00bb, Institut Pasteur, Paris, France",
"Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Human Genetics and Cognitive Functions, Paris, France"
],
"type": "Organization"
},
"familyName": "Bourgeron",
"givenName": "Thomas",
"id": "sg:person.0767762211.42",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0767762211.42"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Paris Diderot University",
"id": "https://www.grid.ac/institutes/grid.7452.4",
"name": [
"Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France",
"CNRS UMR 3571 \u00ab Genes, Synapses and Cognition \u00bb, Institut Pasteur, Paris, France",
"Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, Human Genetics and Cognitive Functions, Paris, France"
],
"type": "Organization"
},
"familyName": "Clo\u00ebz-Tayarani",
"givenName": "Isabelle",
"id": "sg:person.0631350111.48",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0631350111.48"
],
"type": "Person"
}
],
"citation": [
{
"id": "https://doi.org/10.3390/ijms18010135",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002383865"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nmeth783",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002677250",
"https://doi.org/10.1038/nmeth783"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nmeth783",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002677250",
"https://doi.org/10.1038/nmeth783"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nmeth783",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002677250",
"https://doi.org/10.1038/nmeth783"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.0906232107",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002689488"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.neulet.2015.01.011",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1003200955"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1074/jbc.m112.424747",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005855974"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng1933",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006673623",
"https://doi.org/10.1038/ng1933"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng1933",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006673623",
"https://doi.org/10.1038/ng1933"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/417039a",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1009958221",
"https://doi.org/10.1038/417039a"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/417039a",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1009958221",
"https://doi.org/10.1038/417039a"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1371/journal.pgen.1004580",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011153689"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13229-015-0020-5",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1014715238",
"https://doi.org/10.1186/s13229-015-0020-5"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13229-015-0020-5",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1014715238",
"https://doi.org/10.1186/s13229-015-0020-5"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.neuron.2015.11.023",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1016879022"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.neuron.2015.11.023",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1016879022"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1242/bio.20133343",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1018390875"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0092-8674(03)00079-5",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1018483620"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00216-013-7476-y",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1023612819",
"https://doi.org/10.1007/s00216-013-7476-y"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00216-013-7476-y",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1023612819",
"https://doi.org/10.1007/s00216-013-7476-y"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature09965",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1023637164",
"https://doi.org/10.1038/nature09965"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.tins.2003.08.005",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024804495"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.tins.2003.08.005",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024804495"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.neuron.2013.03.016",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024996807"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/2040-2392-1-15",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1026591820",
"https://doi.org/10.1186/2040-2392-1-15"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature16971",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1027791071",
"https://doi.org/10.1038/nature16971"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.1102999108",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1029994293"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1038/emboj.2011.278",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1031453710"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/mp.2016.61",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032889416",
"https://doi.org/10.1038/mp.2016.61"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/mp.2011.57",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1034325194",
"https://doi.org/10.1038/mp.2011.57"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1126/science.aad5487",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1035591420"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.ebiom.2016.05.032",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1036797147"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.ridd.2010.06.002",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1036893824"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1523/jneurosci.6107-11.2012",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1036946841"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nn.2741",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1037440395",
"https://doi.org/10.1038/nn.2741"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature12618",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040610895",
"https://doi.org/10.1038/nature12618"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1126/science.aaf2669",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1045013485"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/hmg/ddr212",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1046093535"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nrn3992",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1048302754",
"https://doi.org/10.1038/nrn3992"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1523/jneurosci.4354-04.2005",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1048928755"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1201/9780203486283.ch13",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1050889377"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1083/jcb.200404108",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1051168041"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/tp.2013.71",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1052789245",
"https://doi.org/10.1038/tp.2013.71"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.3791/53197",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1071425347"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s12264-017-0111-8",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1084034821",
"https://doi.org/10.1007/s12264-017-0111-8"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s12264-017-0111-8",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1084034821",
"https://doi.org/10.1007/s12264-017-0111-8"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/srep45190",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1084133036",
"https://doi.org/10.1038/srep45190"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13578-017-0153-7",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1085439452",
"https://doi.org/10.1186/s13578-017-0153-7"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13578-017-0153-7",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1085439452",
"https://doi.org/10.1186/s13578-017-0153-7"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/s41525-017-0035-2",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1092261969",
"https://doi.org/10.1038/s41525-017-0035-2"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.3389/fneur.2017.00670",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1099639616"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.3389/fneur.2018.00237",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1103265299"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/s41398-018-0142-6",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1103613858",
"https://doi.org/10.1038/s41398-018-0142-6"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/s41398-018-0142-6",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1103613858",
"https://doi.org/10.1038/s41398-018-0142-6"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13229-018-0205-9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1103669958",
"https://doi.org/10.1186/s13229-018-0205-9"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13229-018-0205-9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1103669958",
"https://doi.org/10.1186/s13229-018-0205-9"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/bs.ctdb.2018.02.011",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1103880125"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.7717/peerj.4370",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1103961869"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.bbi.2018.05.015",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1104125951"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.bbi.2018.05.015",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1104125951"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13287-018-0966-2",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1106324367",
"https://doi.org/10.1186/s13287-018-0966-2"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13287-018-0966-2",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1106324367",
"https://doi.org/10.1186/s13287-018-0966-2"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13287-018-0966-2",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1106324367",
"https://doi.org/10.1186/s13287-018-0966-2"
],
"type": "CreativeWork"
}
],
"datePublished": "2019-12",
"datePublishedReg": "2019-12-01",
"description": "The synaptic protein SHANK3 encodes a multidomain scaffold protein expressed at the postsynaptic density of neuronal excitatory synapses. We previously identified de novo SHANK3 mutations in patients with autism spectrum disorders (ASD) and showed that SHANK3 represents one of the major genes for ASD. Here, we analyzed the pyramidal cortical neurons derived from induced pluripotent stem cells from four patients with ASD carrying SHANK3 de novo truncating mutations. At 40-45 days after the differentiation of neural stem cells, dendritic spines from pyramidal neurons presented variable morphologies: filopodia, thin, stubby and muschroom, as measured in 3D using GFP labeling and immunofluorescence. As compared to three controls, we observed a significant decrease in SHANK3 mRNA levels (less than 50% of controls) in correlation with a significant reduction in dendritic spine densities and whole spine and spine head volumes. These results, obtained through the analysis of de novo SHANK3 mutations in the patients' genomic background, provide further support for the presence of synaptic abnormalities in a subset of patients with ASD.",
"genre": "research_article",
"id": "sg:pub.10.1038/s41598-018-36993-x",
"inLanguage": [
"en"
],
"isAccessibleForFree": true,
"isFundedItemOf": [
{
"id": "sg:grant.4527923",
"type": "MonetaryGrant"
}
],
"isPartOf": [
{
"id": "sg:journal.1045337",
"issn": [
"2045-2322"
],
"name": "Scientific Reports",
"type": "Periodical"
},
{
"issueNumber": "1",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "9"
}
],
"name": "Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations",
"pagination": "94",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"cbed2a3e88d0dc655410b2bd4b44c8f76f91c6db454c2627523c468d648fbfbb"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"30643170"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"101563288"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/s41598-018-36993-x"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1111273944"
]
}
],
"sameAs": [
"https://doi.org/10.1038/s41598-018-36993-x",
"https://app.dimensions.ai/details/publication/pub.1111273944"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-11T08:41",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000320_0000000320/records_101405_00000000.jsonl",
"type": "ScholarlyArticle",
"url": "https://www.nature.com/articles/s41598-018-36993-x"
}
]
Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s41598-018-36993-x'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41598-018-36993-x'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41598-018-36993-x'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41598-018-36993-x'
This table displays all metadata directly associated to this object as RDF triples.
367 TRIPLES
21 PREDICATES
77 URIs
21 LITERALS
9 BLANK NODES