Ontology type: schema:ScholarlyArticle Open Access: True
2018-12
AUTHORSSandy Elbitar, Delia Susan-Resiga, Youmna Ghaleb, Petra El Khoury, Gina Peloso, Nathan Stitziel, Jean-Pierre Rabès, Valérie Carreau, Josée Hamelin, Ali Ben-Djoudi-Ouadda, Eric Bruckert, Catherine Boileau, Nabil G. Seidah, Mathilde Varret, Marianne Abifadel
ABSTRACTAutosomal dominant hypercholesterolemia (ADH) is characterized by elevated LDL-C levels leading to coronary heart disease. Four genes are implicated in ADH: LDLR, APOB, PCSK9 and APOE. Our aim was to identify new mutations in known genes, or in new genes implicated in ADH. Thirteen French families with ADH were recruited and studied by exome sequencing after exclusion, in their probands, of mutations in the LDLR, PCSK9 and APOE genes and fragments of exons 26 and 29 of APOB gene. We identified in one family a p.Arg50Gln mutation in the APOB gene, which occurs in a region not usually associated with ADH. Segregation and in-silico analysis suggested that this mutation is disease causing in the family. We identified in another family with the p.Ala3396Thr mutation of APOB, one patient with a severe phenotype carrying also a mutation in PCSK9: p.Arg96Cys. This is the first compound heterozygote reported with a mutation in APOB and PCSK9. Functional studies proved that the p.Arg96Cys mutation leads to increased LDL receptor degradation. This work shows that Next-Generation Sequencing (exome, genome or targeted sequencing) are powerful tools to find new mutations and identify compound heterozygotes, which will lead to better diagnosis and treatment of ADH. More... »
PAGES1943
http://scigraph.springernature.com/pub.10.1038/s41598-018-20281-9
DOIhttp://dx.doi.org/10.1038/s41598-018-20281-9
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1100658031
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/29386597
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/2008/0604",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Genetics",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Biological Sciences",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Paris Diderot University",
"id": "https://www.grid.ac/institutes/grid.7452.4",
"name": [
"INSERM LVTS U1148, h\u00f4pital Bichat-Claude Bernard, Paris, France",
"Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, P\u00f4le Technologie- Sant\u00e9, Saint-Joseph University, Beirut, Lebanon",
"Paris Diderot University, Paris, France"
],
"type": "Organization"
},
"familyName": "Elbitar",
"givenName": "Sandy",
"id": "sg:person.01143435220.28",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01143435220.28"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Montreal",
"id": "https://www.grid.ac/institutes/grid.14848.31",
"name": [
"Laboratory of Biochemical Neuroendocrinology, Institut de Recherches Cliniques de Montr\u00e9al, Affiliated to the Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, H2W1R7, Qu\u00e9bec, Canada"
],
"type": "Organization"
},
"familyName": "Susan-Resiga",
"givenName": "Delia",
"id": "sg:person.01035651026.52",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01035651026.52"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Paris Diderot University",
"id": "https://www.grid.ac/institutes/grid.7452.4",
"name": [
"INSERM LVTS U1148, h\u00f4pital Bichat-Claude Bernard, Paris, France",
"Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, P\u00f4le Technologie- Sant\u00e9, Saint-Joseph University, Beirut, Lebanon",
"Paris Diderot University, Paris, France"
],
"type": "Organization"
},
"familyName": "Ghaleb",
"givenName": "Youmna",
"id": "sg:person.01257663620.11",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257663620.11"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Saint Joseph University",
"id": "https://www.grid.ac/institutes/grid.42271.32",
"name": [
"INSERM LVTS U1148, h\u00f4pital Bichat-Claude Bernard, Paris, France",
"Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, P\u00f4le Technologie- Sant\u00e9, Saint-Joseph University, Beirut, Lebanon"
],
"type": "Organization"
},
"familyName": "Khoury",
"givenName": "Petra El",
"id": "sg:person.012631540311.47",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012631540311.47"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Boston University",
"id": "https://www.grid.ac/institutes/grid.189504.1",
"name": [
"Department of Biostatistics, School of Public Health, Boston University, 02216, Boston, MA, USA"
],
"type": "Organization"
},
"familyName": "Peloso",
"givenName": "Gina",
"id": "sg:person.01272021712.88",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01272021712.88"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Washington University in St. Louis",
"id": "https://www.grid.ac/institutes/grid.4367.6",
"name": [
"Division of Cardiology, Department of Medicine; Department of Genetics, McDonnell Genome Institute, Washington University School of Medicine, Saint Louis, MO, USA"
],
"type": "Organization"
},
"familyName": "Stitziel",
"givenName": "Nathan",
"id": "sg:person.01065735320.09",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01065735320.09"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "H\u00f4pital Ambroise-Par\u00e9",
"id": "https://www.grid.ac/institutes/grid.413756.2",
"name": [
"INSERM LVTS U1148, h\u00f4pital Bichat-Claude Bernard, Paris, France",
"Assistance Publique-H\u00f4pitaux de Paris, HUPIFO, h\u00f4pital Ambroise-Par\u00e9, Laboratoire de Biochimie et de G\u00e9n\u00e9tique Mol\u00e9culaire, Boulogne-Billancourt et UVSQ, UFR des Sciences de la Sant\u00e9 Simone Veil, Montigny-le-Bretonneux, France"
],
"type": "Organization"
},
"familyName": "Rab\u00e8s",
"givenName": "Jean-Pierre",
"id": "sg:person.01212421615.25",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01212421615.25"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital",
"id": "https://www.grid.ac/institutes/grid.411439.a",
"name": [
"Assistance Publique-H\u00f4pitaux de Paris, Endocrinology and Nutrition Department, Human Research Nutrition Center, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, F-75013, Paris, France"
],
"type": "Organization"
},
"familyName": "Carreau",
"givenName": "Val\u00e9rie",
"id": "sg:person.0651357315.34",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0651357315.34"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Montreal",
"id": "https://www.grid.ac/institutes/grid.14848.31",
"name": [
"Laboratory of Biochemical Neuroendocrinology, Institut de Recherches Cliniques de Montr\u00e9al, Affiliated to the Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, H2W1R7, Qu\u00e9bec, Canada"
],
"type": "Organization"
},
"familyName": "Hamelin",
"givenName": "Jos\u00e9e",
"id": "sg:person.01166006620.16",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166006620.16"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Montreal",
"id": "https://www.grid.ac/institutes/grid.14848.31",
"name": [
"Laboratory of Biochemical Neuroendocrinology, Institut de Recherches Cliniques de Montr\u00e9al, Affiliated to the Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, H2W1R7, Qu\u00e9bec, Canada"
],
"type": "Organization"
},
"familyName": "Ben-Djoudi-Ouadda",
"givenName": "Ali",
"id": "sg:person.0742652340.42",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0742652340.42"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital",
"id": "https://www.grid.ac/institutes/grid.411439.a",
"name": [
"Assistance Publique-H\u00f4pitaux de Paris, Endocrinology and Nutrition Department, Human Research Nutrition Center, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, F-75013, Paris, France"
],
"type": "Organization"
},
"familyName": "Bruckert",
"givenName": "Eric",
"id": "sg:person.01300374337.17",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01300374337.17"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "H\u00f4pital Bichat-Claude-Bernard",
"id": "https://www.grid.ac/institutes/grid.411119.d",
"name": [
"INSERM LVTS U1148, h\u00f4pital Bichat-Claude Bernard, Paris, France",
"Paris Diderot University, Paris, France",
"Service de G\u00e9n\u00e9tique, h\u00f4pital Bichat-Claude Bernard, Paris, France"
],
"type": "Organization"
},
"familyName": "Boileau",
"givenName": "Catherine",
"id": "sg:person.0730446617.65",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0730446617.65"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Montreal",
"id": "https://www.grid.ac/institutes/grid.14848.31",
"name": [
"Laboratory of Biochemical Neuroendocrinology, Institut de Recherches Cliniques de Montr\u00e9al, Affiliated to the Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, H2W1R7, Qu\u00e9bec, Canada"
],
"type": "Organization"
},
"familyName": "Seidah",
"givenName": "Nabil G.",
"id": "sg:person.01251625555.66",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01251625555.66"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Paris Diderot University",
"id": "https://www.grid.ac/institutes/grid.7452.4",
"name": [
"INSERM LVTS U1148, h\u00f4pital Bichat-Claude Bernard, Paris, France",
"Paris Diderot University, Paris, France"
],
"type": "Organization"
},
"familyName": "Varret",
"givenName": "Mathilde",
"id": "sg:person.01265537703.42",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01265537703.42"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Saint Joseph University",
"id": "https://www.grid.ac/institutes/grid.42271.32",
"name": [
"INSERM LVTS U1148, h\u00f4pital Bichat-Claude Bernard, Paris, France",
"Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, P\u00f4le Technologie- Sant\u00e9, Saint-Joseph University, Beirut, Lebanon"
],
"type": "Organization"
},
"familyName": "Abifadel",
"givenName": "Marianne",
"id": "sg:person.01030060015.59",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01030060015.59"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1007/bf01644767",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1001986593",
"https://doi.org/10.1007/bf01644767"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf01644767",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1001986593",
"https://doi.org/10.1007/bf01644767"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1194/jlr.m900273-jlr200",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004145686"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1194/jlr.r300002-jlr200",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004448449"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.atherosclerosis.2005.08.015",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005261881"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.0335507100",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006286887"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.atherosclerosis.2013.01.007",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006677396"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1515/cclm.1998.007",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1008359979"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/humu.21348",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1010422217"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng1161",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011528564",
"https://doi.org/10.1038/ng1161"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng1161",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011528564",
"https://doi.org/10.1038/ng1161"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1074/jbc.m109.037085",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011874016"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1258/acb.2010.010089",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1012685385"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1258/acb.2010.010089",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1012685385"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/humu.22215",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1015799110"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.jacl.2016.09.009",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1017645657"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1172/jci1847",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1018259095"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1161/circgenetics.115.001129",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1018344055"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1161/circgenetics.115.001129",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1018344055"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/eurheartj/ehu058",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1019995171"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1161/atvbaha.112.250043",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020855860"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1161/atvbaha.112.250043",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020855860"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1161/atvbaha.112.250043",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020855860"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/joim.12263",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1021065074"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.jacl.2016.09.003",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1021306780"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/mgg3.17",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022661781"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1161/circgenetics.114.000776",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024416356"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1161/circgenetics.114.000776",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024416356"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/nar/gkr1257",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1029061468"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1080/13543776.2016.1206080",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1030890382"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/jmedgenet-2014-102405",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1030998120"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1074/jbc.m409699200",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1031123756"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/(sici)1098-1004(1997)10:2<160::aid-humu8>3.0.co;2-o",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1031180413"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/eurheartj/eht273",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032429903"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s11883-014-0439-8",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1033791217",
"https://doi.org/10.1007/s11883-014-0439-8"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1161/01.atv.13.7.1076",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1033877578"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1074/jbc.c700095200",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1035102737"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/(sici)1098-1004(1996)7:4<340::aid-humu8>3.0.co;2-c",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1035527190"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0021-9150(01)00535-4",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1036055580"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1161/01.atv.20.10.e76",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1036466325"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.84.19.6919",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043060575"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/eurheartj/ehw028",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043249308"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/eurheartj/ehw028",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043249308"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1074/jbc.m008890200",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043991611"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nrg3031",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047038706",
"https://doi.org/10.1038/nrg3031"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/eurheartj/ehs010",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1050360972"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/hmg/ddt573",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1051973927"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1074/jbc.m116.769430",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058215844"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1126/science.1060458",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1062445003"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1161/01.atv.15.10.1719",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1063333887"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1161/atvbaha.116.308027",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1063342744"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1161/atvbaha.116.308027",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1063342744"
],
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1074780021",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1078238888",
"type": "CreativeWork"
}
],
"datePublished": "2018-12",
"datePublishedReg": "2018-12-01",
"description": "Autosomal dominant hypercholesterolemia (ADH) is characterized by elevated LDL-C levels leading to coronary heart disease. Four genes are implicated in ADH: LDLR, APOB, PCSK9 and APOE. Our aim was to identify new mutations in known genes, or in new genes implicated in ADH. Thirteen French families with ADH were recruited and studied by exome sequencing after exclusion, in their probands, of mutations in the LDLR, PCSK9 and APOE genes and fragments of exons 26 and 29 of APOB gene. We identified in one family a p.Arg50Gln mutation in the APOB gene, which occurs in a region not usually associated with ADH. Segregation and in-silico analysis suggested that this mutation is disease causing in the family. We identified in another family with the p.Ala3396Thr mutation of APOB, one patient with a severe phenotype carrying also a mutation in PCSK9: p.Arg96Cys. This is the first compound heterozygote reported with a mutation in APOB and PCSK9. Functional studies proved that the p.Arg96Cys mutation leads to increased LDL receptor degradation. This work shows that Next-Generation Sequencing (exome, genome or targeted sequencing) are powerful tools to find new mutations and identify compound heterozygotes, which will lead to better diagnosis and treatment of ADH.",
"genre": "research_article",
"id": "sg:pub.10.1038/s41598-018-20281-9",
"inLanguage": [
"en"
],
"isAccessibleForFree": true,
"isFundedItemOf": [
{
"id": "sg:grant.2543273",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.5054530",
"type": "MonetaryGrant"
}
],
"isPartOf": [
{
"id": "sg:journal.1045337",
"issn": [
"2045-2322"
],
"name": "Scientific Reports",
"type": "Periodical"
},
{
"issueNumber": "1",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "8"
}
],
"name": "New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia",
"pagination": "1943",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"8a0c8d98ced1d797f23b4b161ebb747a2f3291df63eeef1a592c1a4fb2d3ab8e"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"29386597"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"101563288"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/s41598-018-20281-9"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1100658031"
]
}
],
"sameAs": [
"https://doi.org/10.1038/s41598-018-20281-9",
"https://app.dimensions.ai/details/publication/pub.1100658031"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-11T01:17",
"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/v90/0000000001_0000000264/records_8697_00000572.jsonl",
"type": "ScholarlyArticle",
"url": "https://www.nature.com/articles/s41598-018-20281-9"
}
]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/s41598-018-20281-9'
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/s41598-018-20281-9'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41598-018-20281-9'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41598-018-20281-9'
This table displays all metadata directly associated to this object as RDF triples.
334 TRIPLES
21 PREDICATES
74 URIs
21 LITERALS
9 BLANK NODES