{"id":"https://openalex.org/W97012183","doi":null,"title":"Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.","display_name":"Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.","publication_year":2014,"publication_date":"2014-07-01","ids":{"openalex":"https://openalex.org/W97012183","mag":"97012183","pmid":"https://pubmed.ncbi.nlm.nih.gov/25182393"},"language":"en","primary_location":{"id":"pmid:25182393","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25182393","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":"Developmental period medicine","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5031305369","display_name":"Anna Abramowicz","orcid":"https://orcid.org/0000-0001-6574-4826","observed_orcids":["https://orcid.org/0000-0001-6574-4826"]},"institutions":[{"id":"https://openalex.org/I4210123576","display_name":"Instytut Matki i Dziecka","ror":"https://ror.org/03v4km086","country_code":"PL","type":"facility","lineage":["https://openalex.org/I4210123576"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Anna Abramowicz","raw_affiliation_strings":["Department of Medical Genetic, Institute of Mother and Child, 01-211 Warsaw, str. Kasprzaka 17A, phone: 48 22 32 77 176, e-mail: anna.abramowicz@imid.med.pl"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetic, Institute of Mother and Child, 01-211 Warsaw, str. Kasprzaka 17A, phone: 48 22 32 77 176, e-mail: anna.abramowicz@imid.med.pl","institution_ids":["https://openalex.org/I4210123576"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5084051680","display_name":"Monika Go\u015b","orcid":"https://orcid.org/0000-0002-5475-0582","observed_orcids":["https://orcid.org/0000-0002-5475-0582"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Monika Gos","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":5.0679,"has_fulltext":false,"cited_by_count":79,"citation_normalized_percentile":{"value":0.95668805,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":95,"max":99},"biblio":{"volume":"18","issue":"3","first_page":"297","last_page":"306"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","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/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","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/T12226","display_name":"Neuroblastoma Research and Treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T12104","display_name":"Protein Tyrosine Phosphatases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/neurofibromatosis-type-1","display_name":"neurofibromatosis type 1","score":0.9959999918937683},{"id":"https://openalex.org/keywords/neurofibromin","display_name":"neurofibromin","score":0.9860000014305115},{"id":"https://openalex.org/keywords/nf1-mutation","display_name":"NF1 mutation","score":0.984000027179718},{"id":"https://openalex.org/keywords/ras-mapk-pathway","display_name":"RAS/MAPK pathway","score":0.7670000195503235},{"id":"https://openalex.org/keywords/neurofibroma","display_name":"neurofibroma","score":0.6069999933242798},{"id":"https://openalex.org/keywords/cafe-au-lait-macules","display_name":"caf\u00e9-au-lait spots","score":0.8640000224113464},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.7620000243186951},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.9279999732971191},{"id":"https://openalex.org/keywords/pleiotropy","display_name":"pleiotropy","score":0.8209999799728394},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.5239999890327454},{"id":"https://openalex.org/keywords/neural-crest-differentiation","display_name":"neural crest differentiation","score":0.6430000066757202},{"id":"https://openalex.org/keywords/cell-proliferation","display_name":"cell proliferation","score":0.5410000085830688}],"concepts":[{"id":"https://openalex.org/C170932241","wikidata":"https://www.wikidata.org/wiki/Q411610","display_name":"Neurofibromin 1","level":3,"score":0.9889612197875977},{"id":"https://openalex.org/C2778984943","wikidata":"https://www.wikidata.org/wiki/Q847605","display_name":"Neurofibromatosis","level":2,"score":0.8519879579544067},{"id":"https://openalex.org/C126749454","wikidata":"https://www.wikidata.org/wiki/Q1348455","display_name":"Neural crest","level":3,"score":0.6833697557449341},{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.5959808230400085},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5581212043762207},{"id":"https://openalex.org/C2778102573","wikidata":"https://www.wikidata.org/wiki/Q7616509","display_name":"Neurofibromatosis type I","level":3,"score":0.5367990732192993},{"id":"https://openalex.org/C2778695362","wikidata":"https://www.wikidata.org/wiki/Q856979","display_name":"Caf\u00e9 au lait spot","level":3,"score":0.5151273012161255},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4781828224658966},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.463172972202301},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.41708922386169434},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.35961273312568665},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3448774814605713},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3295162320137024},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.25030380487442017}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015398","descriptor_name":"Signal Transduction","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017353","descriptor_name":"Gene Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018631","descriptor_name":"ras Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D019080","descriptor_name":"Cafe-au-Lait Spots","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020928","descriptor_name":"Mitogen-Activated Protein Kinases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D025542","descriptor_name":"Neurofibromin 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"pmid:25182393","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25182393","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":"Developmental period medicine","raw_type":"Journal Article"},{"id":"mag:97012183","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25182393","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":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9763000011444092}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1241002527","https://openalex.org/W2088124206","https://openalex.org/W2402440020","https://openalex.org/W2413246987","https://openalex.org/W2154917881","https://openalex.org/W2107103504","https://openalex.org/W3009726942","https://openalex.org/W2519412253","https://openalex.org/W2089804896","https://openalex.org/W2081225293"],"abstract_inverted_index":{"Neurofibromatosis":[0],"type":[1],"I":[2,123],"(NF1)":[3],"is":[4,64,98,125,178],"a":[5,80,171,205],"disease":[6,63],"associated":[7,200],"with":[8,201,226],"the":[9,18,31,45,57,68,73,84,107,161,181,202,219,227,241,253,259,265],"presence":[10,69,203],"of":[11,17,42,59,70,86,109,134,167,173,189,191,196,204,221,244,247,255,264],"benign":[12],"neurofibromas":[13],"and":[14,20,53,95,103,119,261],"malignant":[15],"tumours":[16],"central":[19],"peripheral":[21],"nervous":[22],"system,":[23],"that":[24,76,180],"are":[25,137,184,199,250],"accompanied":[26],"by":[27,67],"characteristic":[28],"changes":[29],"in":[30,54,72,83,106,127,160,223,237,252,258],"skin,":[32],"such":[33],"as":[34,234,236],"caf\u00e9-au-lait":[35],"spots":[36],"or":[37,208],"axillary":[38],"freckling.":[39],"In":[40],"50%":[41,133],"NF1":[43,74,162,197,210,248],"patients,":[44],"clinical":[46,262],"symptoms":[47],"become":[48],"apparent":[49],"below":[50],"1st":[51],"year":[52],"97%,":[55],"before":[56],"age":[58],"8":[60],"years.":[61],"The":[62,141,193,216],"mainly":[65,105],"caused":[66],"mutation":[71],"gene":[75,163,211,249],"encodes":[77],"neurofibromin":[78,222],"-":[79],"protein":[81],"involved":[82,104],"regulation":[85,233],"several":[87],"cellular":[88],"signaling":[89,225],"pathways":[90],"responsible":[91,185],"for":[92,100,186],"cell":[93,224],"proliferation":[94],"differentiation.":[96],"Neurofibromin":[97],"necessary":[99],"embryonic":[101],"development":[102],"differentiation":[108,263],"neural":[110,116],"crest":[111],"derived":[112],"cells,":[113,115,117],"mesenchymal":[114],"melanocytes":[118],"bone":[120],"cells.":[121],"Type":[122],"neurofibromatosis":[124],"inherited":[126],"autosomal":[128],"dominant":[129],"manner,":[130],"nevertheless":[131],"about":[132],"detected":[135],"mutations":[136,142,156,183],"de":[138],"novo":[139],"ones.":[140],"have":[143,149,157],"full":[144],"penetrance,":[145],"although":[146],"they":[147],"also":[148],"significant":[150],"pleiotropic":[151],"effect.":[152],"Over":[153],"1485":[154],"different":[155],"been":[158],"identified":[159],"so":[164],"far,":[165],"most":[166],"which":[168],"lead":[169],"to":[170,230],"synthesis":[172],"truncated,":[174],"non-functional":[175],"protein.":[176],"It":[177],"estimated":[179],"point":[182],"approximately":[187],"90%":[188],"cases":[190,198],"NF1.":[192],"remaining":[194],"5-7%":[195],"single":[206],"exon":[207],"whole":[209],"deletion":[212],"(17q11.2":[213],"microdeletion":[214],"syndrome).":[215],"article":[217],"discusses":[218],"role":[220],"special":[228],"attention":[229],"RAS/MAPK":[231],"pathway":[232],"well":[235],"organism":[238],"development.":[239],"Also":[240],"basic":[242],"methods":[243],"molecular":[245],"analysis":[246],"presented":[251],"context":[254],"their":[256],"application":[257],"diagnosis":[260],"disease.":[266]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":10},{"year":2020,"cited_by_count":12},{"year":2019,"cited_by_count":9},{"year":2018,"cited_by_count":10},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":11},{"year":2015,"cited_by_count":8}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
