{"id":"https://openalex.org/W4249350341","doi":"https://doi.org/10.1002/ana.105.abs","title":"Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations","display_name":"Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations","publication_year":2001,"publication_date":"2001-04-01","ids":{"openalex":"https://openalex.org/W4249350341","doi":"https://doi.org/10.1002/ana.105.abs","mag":"2031964868","pmid":"https://pubmed.ncbi.nlm.nih.gov/11310633"},"language":"en","primary_location":{"id":"doi:10.1002/ana.105.abs","doi":"https://doi.org/10.1002/ana.105.abs","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ana.105.abs","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurology","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/A5102862981","display_name":"Miguel Lucas","orcid":"https://orcid.org/0000-0003-0987-8971","observed_orcids":["https://orcid.org/0000-0003-0987-8971"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Miguel Lucas","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007918718","display_name":"Alzenira F. Costa","orcid":"https://orcid.org/0000-0003-1788-743X","observed_orcids":["https://orcid.org/0000-0003-1788-743X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alzenira F. Costa","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056913226","display_name":"Mariano Montori","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mariano Montori","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Francisca Solano","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Francisca Solano","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110964910","display_name":"Mar\u00eda D. Zayas","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mar\u00eda D. Zayas","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5111753215","display_name":"Guillermo Izquierdo","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Guillermo Izquierdo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4700,"currency":"USD","value_usd":4700},"apc_paid":null,"fwci":4.0337,"has_fulltext":false,"cited_by_count":49,"citation_normalized_percentile":{"value":0.9403203,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"49","issue":"4","first_page":"529","last_page":"532"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11402","display_name":"Vascular Malformations Diagnosis and Treatment","score":0.9980000257492065,"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/T11402","display_name":"Vascular Malformations Diagnosis and Treatment","score":0.9980000257492065,"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/T12199","display_name":"Vascular Anomalies and Treatments","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T10420","display_name":"Intracranial Aneurysms: Treatment and Complications","score":0.0003000000142492354,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/cerebral-cavernous-malformations","display_name":"cerebral cavernous malformations","score":0.8949999809265137},{"id":"https://openalex.org/keywords/krit1","display_name":"KRIT1","score":0.8989999890327454},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.8679999709129333},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.8859999775886536},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.9049999713897705},{"id":"https://openalex.org/keywords/heterozygous-deletion","display_name":"heterozygous deletion","score":0.7120000123977661}],"concepts":[{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6235931515693665},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.5830004811286926},{"id":"https://openalex.org/C2779756704","wikidata":"https://www.wikidata.org/wiki/Q1737261","display_name":"Cavernous malformations","level":3,"score":0.5270056128501892},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.50530606508255},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5051344037055969},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.4322908818721771},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.43019670248031616},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.37546202540397644},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.16571742296218872},{"id":"https://openalex.org/C2781156865","wikidata":"https://www.wikidata.org/wiki/Q827023","display_name":"Lesion","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000075927","descriptor_name":"KRIT1 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001932","descriptor_name":"Brain Neoplasms","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D001932","descriptor_name":"Brain Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001932","descriptor_name":"Brain Neoplasms","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008780","descriptor_name":"Methyltransferases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008869","descriptor_name":"Microtubule-Associated Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011518","descriptor_name":"Proto-Oncogene Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020786","descriptor_name":"Hemangioma, Cavernous, Central Nervous System","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D020786","descriptor_name":"Hemangioma, Cavernous, Central Nervous System","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020786","descriptor_name":"Hemangioma, Cavernous, Central Nervous System","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1002/ana.105.abs","doi":"https://doi.org/10.1002/ana.105.abs","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ana.105.abs","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurology","raw_type":"journal-article"},{"id":"pmid:11310633","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11310633","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":"Annals of neurology","raw_type":"Journal Article"},{"id":"mag:2031964868","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11310633","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":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":11,"referenced_works":["https://openalex.org/W1608253138","https://openalex.org/W1971931044","https://openalex.org/W2003956601","https://openalex.org/W2004686933","https://openalex.org/W2038611147","https://openalex.org/W2046464403","https://openalex.org/W2062060849","https://openalex.org/W2090437258","https://openalex.org/W2104684414","https://openalex.org/W2121850322","https://openalex.org/W2900361024"],"related_works":["https://openalex.org/W4367183964","https://openalex.org/W1644117858","https://openalex.org/W7044131478","https://openalex.org/W2026102897","https://openalex.org/W2529224003","https://openalex.org/W2003956601","https://openalex.org/W3135753461","https://openalex.org/W2767750377","https://openalex.org/W2274627838","https://openalex.org/W2089940450"],"abstract_inverted_index":{"Mutations":[0],"in":[1,47,111],"the":[2,10,19,51,84,91,97],"Kritl":[3,27,52,112],"gene":[4,113],"have":[5],"been":[6],"recently":[7],"discovered":[8],"as":[9],"cause":[11,29],"of":[12,26,42,50,74,83,100],"hereditary":[13],"cerebral":[14,36,116],"cavernous":[15,30,117],"angioma.":[16,31],"We":[17],"sought":[18],"possibility":[20],"that":[21,114],"de":[22,107],"novo,":[23],"noninherited":[24],"mutations":[25],"also":[28],"A":[32],"patient":[33],"with":[34],"two":[35,43],"malformations":[37],"carries":[38,90],"a":[39,57,66,71,106],"heterozygous":[40],"deletion":[41,55],"base":[44],"pairs":[45],"(741delTC)":[46],"exon":[48,77,101],"VI":[49],"gene.":[53],"The":[54],"initiates":[56],"frameshift":[58],"mutation":[59,110],"that,":[60],"23":[61],"amino":[62],"acids":[63],"downstream,":[64],"encodes":[65],"TAA":[67],"stop":[68],"triplet":[69,73],"replacing":[70],"CAT":[72],"histidine":[75],"at":[76],"VII":[78],"(H271X).":[79],"Magnetic":[80],"resonance":[81],"images":[82],"parents":[85],"were":[86],"normal,":[87],"neither":[88],"parent":[89],"741delTC":[92],"mutation,":[93],"and":[94],"both":[95],"bear":[96],"wild-type":[98],"sequence":[99],"VI.":[102],"These":[103],"findings":[104],"document":[105],"novo":[108],"germline":[109],"causes":[115],"malformations.":[118]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":2},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2022-05-12T00:00:00"}
