{"id":"https://openalex.org/W2242847745","doi":"https://doi.org/10.1051/jbio/2002196010109","title":"Bases mol\u00e9culaires et m\u00e9canismes physiopathog\u00e9niques de CADASIL : un mod\u00e8le de maladie des petites art\u00e8res c\u00e9r\u00e9brales","display_name":"Bases mol\u00e9culaires et m\u00e9canismes physiopathog\u00e9niques de CADASIL : un mod\u00e8le de maladie des petites art\u00e8res c\u00e9r\u00e9brales","publication_year":2002,"publication_date":"2002-01-01","ids":{"openalex":"https://openalex.org/W2242847745","doi":"https://doi.org/10.1051/jbio/2002196010109","mag":"2242847745","pmid":"https://pubmed.ncbi.nlm.nih.gov/12134625"},"language":"fr","primary_location":{"id":"doi:10.1051/jbio/2002196010109","doi":"https://doi.org/10.1051/jbio/2002196010109","is_oa":false,"landing_page_url":"https://doi.org/10.1051/jbio/2002196010109","pdf_url":null,"source":{"id":"https://openalex.org/S4210207230","display_name":"Journal de la Soci\u00e9t\u00e9 de Biologie","issn_l":"1295-0661","issn":["1295-0661","1760-6128"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal de la Soci\u00e9t\u00e9 de Biologie","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5007569757","display_name":"Anne Joutel","orcid":"https://orcid.org/0000-0003-3963-3860","observed_orcids":["https://orcid.org/0000-0003-3963-3860"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Joutel","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5030900693","display_name":"Elisabeth Tournier\u2010Lasserve","orcid":"https://orcid.org/0000-0002-3039-1677","observed_orcids":["https://orcid.org/0000-0002-3039-1677"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E. Tournier-Lasserve","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.8685,"has_fulltext":false,"cited_by_count":17,"citation_normalized_percentile":{"value":0.7492766,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":95},"biblio":{"volume":"196","issue":"1","first_page":"109","last_page":"115"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13648","display_name":"Cerebrovascular and genetic disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T13648","display_name":"Cerebrovascular and genetic disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T14144","display_name":"Neurological Disease Mechanisms and Treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/cadasil","display_name":"CADASIL","score":0.9950000047683716},{"id":"https://openalex.org/keywords/cerebral-small-vessel-disease","display_name":"cerebral small vessel disease","score":0.8709999918937683},{"id":"https://openalex.org/keywords/notch3","display_name":"Notch3","score":0.9020000100135803},{"id":"https://openalex.org/keywords/notch-signaling","display_name":"Notch signaling","score":0.75},{"id":"https://openalex.org/keywords/vascular-smooth-muscle-cells","display_name":"vascular smooth muscle cells","score":0.8550000190734863},{"id":"https://openalex.org/keywords/ischemic-stroke","display_name":"ischemic stroke","score":0.7260000109672546},{"id":"https://openalex.org/keywords/white-matter-disease","display_name":"white matter disease","score":0.7319999933242798},{"id":"https://openalex.org/keywords/cognitive-impairment","display_name":"cognitive impairment","score":0.6359999775886536},{"id":"https://openalex.org/keywords/vascular-homeostasis","display_name":"vascular homeostasis","score":0.6460000276565552},{"id":"https://openalex.org/keywords/neurovascular-pathology","display_name":"neurovascular pathology","score":0.5260000228881836},{"id":"https://openalex.org/keywords/notch3-mutations","display_name":"NOTCH3 mutations","score":0.5820000171661377},{"id":"https://openalex.org/keywords/diagnostic-test-development","display_name":"diagnostic test development","score":0.5699999928474426}],"concepts":[{"id":"https://openalex.org/C2779268494","wikidata":"https://www.wikidata.org/wiki/Q1022718","display_name":"CADASIL","level":4,"score":0.6965736746788025},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.598094642162323},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.4868992865085602},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.08564919233322144},{"id":"https://openalex.org/C2778583010","wikidata":"https://www.wikidata.org/wiki/Q3237081","display_name":"Leukoencephalopathy","level":3,"score":0.06422612071037292},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.04773607850074768}],"mesh":[{"descriptor_ui":"D000071656","descriptor_name":"Receptor, Notch3","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002462","descriptor_name":"Cell Membrane","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002536","descriptor_name":"Cerebral Arteries","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D003545","descriptor_name":"Cysteine","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009131","descriptor_name":"Muscle, Smooth, Vascular","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D009131","descriptor_name":"Muscle, Smooth, Vascular","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011518","descriptor_name":"Proto-Oncogene Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011518","descriptor_name":"Proto-Oncogene Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011956","descriptor_name":"Receptors, Cell Surface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015161","descriptor_name":"Dementia, Multi-Infarct","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015161","descriptor_name":"Dementia, Multi-Infarct","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D051880","descriptor_name":"Receptors, Notch","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1051/jbio/2002196010109","doi":"https://doi.org/10.1051/jbio/2002196010109","is_oa":false,"landing_page_url":"https://doi.org/10.1051/jbio/2002196010109","pdf_url":null,"source":{"id":"https://openalex.org/S4210207230","display_name":"Journal de la Soci\u00e9t\u00e9 de Biologie","issn_l":"1295-0661","issn":["1295-0661","1760-6128"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal de la Soci\u00e9t\u00e9 de Biologie","raw_type":"journal-article"},{"id":"pmid:12134625","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12134625","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal de la Societe de biologie","raw_type":"Journal Article"},{"id":"pmh:oai:edpsciences.org:dkey/10.1051/jbio/2002196010109","doi":null,"is_oa":false,"landing_page_url":"https://www.biologie-journal.org/10.1051/jbio/2002196010109/pdf","pdf_url":"https://www.biologie-journal.org/10.1051/jbio/2002196010109/pdf","source":{"id":"https://openalex.org/S4306400744","display_name":"Springer Link (Chiba Institute of Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I8488066","host_organization_name":"Chiba Institute of Technology","host_organization_lineage":["https://openalex.org/I8488066"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"https://doi.org/10.1051/jbio/2002196010109","raw_type":"Text"},{"id":"mag:177665700","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12134625","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4232830173","https://openalex.org/W6983756346","https://openalex.org/W7143393507","https://openalex.org/W7148563970","https://openalex.org/W7000456114","https://openalex.org/W2066626746","https://openalex.org/W7123241259","https://openalex.org/W585958993","https://openalex.org/W177665700","https://openalex.org/W2523918828"],"abstract_inverted_index":{"Les":[0,205],"maladies":[1,290],"des":[2,12,37,50,55,86,122,200,289,291],"petites":[3,292],"art\u00e8res":[4,293],"c\u00e9r\u00e9brales":[5],"sont":[6,32,302],"la":[7,35,63,82,170,189,197,213,219,233,256,261,279],"cause":[8,139],"d\u2019environ":[9],"20":[10],"%":[11],"accidents":[13,51],"isch\u00e9miques":[14,52],"c\u00e9r\u00e9braux.":[15],"Leur":[16],"diagnostic":[17],"est":[18,164,218,238],"difficile":[19],"et":[20,58,95,168,271],"leurs":[21],"m\u00e9canismes":[22],"physiopathog\u00e9niques":[23],"tr\u00e8s":[24,71,84],"obscurs.":[25],"Un":[26],"certain":[27],"nombre":[28,73],"de":[29,62,74,81,93,96,108,114,151,162,188,191,207,225,235,249,255,268,277,281,300,304],"ces":[30,208,246],"art\u00e9riopathies":[31],"familiales.":[33],"A":[34],"fin":[36],"ann\u00e9es":[38],"80,":[39],"une":[40,59,127,138,186],"forme":[41],"autosomique":[42],"dominante":[43],"d\u2019art\u00e9riopathie":[44,141],"c\u00e9r\u00e9brale,":[45],"CADASIL,":[46,183],"se":[47],"manifestant":[48],"par":[49],"c\u00e9r\u00e9braux":[53],"r\u00e9currents,":[54],"troubles":[56],"cognitifs":[57],"atteinte":[60],"s\u00e9v\u00e8re":[61],"substance":[64],"blanche":[65],"a":[66],"\u00e9t\u00e9":[67,118,130],"identifi\u00e9e":[68],"dans":[69,90,240,252,286],"un":[70],"petit":[72],"familles.":[75],"Nous":[76,153],"avons":[77,154,177],"\u00e9tabli":[78,178],"qu\u2019un":[79],"g\u00e8ne":[80,106],"famille":[83],"conserv\u00e9e":[85],"r\u00e9cepteurs":[87],"Notch":[88],"impliqu\u00e9s":[89],"les":[91,181,298],"processus":[92,223],"diff\u00e9renciation":[94],"prolif\u00e9ration":[97],"cellulaire":[98],"au":[99,263],"cours":[100],"du":[101,222,242],"d\u00e9veloppement,":[102],"Notch3,":[103],"\u00e9tait":[104],"le":[105,148,253,287],"responsable":[107],"CADASIL.":[109,226],"\u00c0":[110],"ce":[111],"jour,":[112],"plus":[113],"300":[115],"familles":[116],"ont":[117,129],"\u00e9tudi\u00e9es":[119],"et,":[120],"r\u00e9cemment,":[121],"cas":[123],"sporadiques":[124],"li\u00e9s":[125],"\u00e0":[126,169,196],"n\u00e9omutation":[128],"identifi\u00e9s,":[131],"sugg\u00e9rant":[132],"que":[133,212,232],"CADASIL":[134,269],"n\u2019est":[135],"probablement":[136],"pas":[137,146],"rare":[140],"c\u00e9r\u00e9brale.":[142],"On":[143],"ne":[144],"conna\u00eet":[145],"encore":[147],"r\u00f4le":[149],"exact":[150],"Notch3.":[152],"r\u00e9cemment":[155],"montr\u00e9":[156],"que,":[157,179],"chez":[158,180],"l\u2019homme":[159],"adulte,":[160],"l\u2019expression":[161],"Notch3":[163,192,237,301],"restreinte":[165],"aux":[166],"vaisseaux":[167],"cellule":[171,214],"musculaire":[172,215],"lisse.":[173],"Par":[174,227],"ailleurs,":[175],"nous":[176],"patients":[182],"il":[184],"existe":[185],"anomalie":[187],"clairance":[190],"entra\u00eenant":[193],"son":[194],"accumulation":[195],"membrane":[198],"cytoplasmique":[199],"cellules":[201],"musculaires":[202],"lisses":[203],"vasculaires.":[204],"r\u00e9sultats":[206],"travaux":[209,247],"indiquent":[210],"donc":[211],"lisse":[216],"vasculaire":[217],"cible":[220],"primaire":[221],"pathog\u00e8ne":[224],"ailleurs":[228],"ils":[229],"sugg\u00e8rent":[230],"fortement":[231],"voie":[234],"signalisation":[236],"impliqu\u00e9e":[239],"l\u2019hom\u00e9ostasie":[241],"vaisseau":[243],"adulte.":[244],"Enfin":[245],"ouvrent":[248],"nouvelles":[250],"perspectives":[251],"domaine":[254],"pathologie":[257],"neurovasculaire.":[258],"En":[259],"particulier":[260],"mise":[262],"point":[264],"d\u2019un":[265],"test":[266],"diagnostique":[267],"fiable":[270],"faisable":[272],"en":[273],"routine":[274],"permettra":[275],"prochainement":[276],"d\u00e9terminer":[278],"pr\u00e9valence":[280],"cette":[282],"affection,":[283],"1\u00e8re":[284],"\u00e9tape":[285],"d\u00e9membrement":[288],"c\u00e9r\u00e9brales,":[294],"affections":[295],"pour":[296],"lesquelles":[297],"partenaires":[299],"autant":[303],"candidats":[305],"potentiels.":[306]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2013,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
