{"id":"https://openalex.org/W2005398692","doi":"https://doi.org/10.1002/ajmg.c.30301","title":"Disorders of the Ras pathway: An introduction","display_name":"Disorders of the Ras pathway: An introduction","publication_year":2011,"publication_date":"2011-04-14","ids":{"openalex":"https://openalex.org/W2005398692","doi":"https://doi.org/10.1002/ajmg.c.30301","mag":"2005398692","pmid":"https://pubmed.ncbi.nlm.nih.gov/21495180"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.c.30301","doi":"https://doi.org/10.1002/ajmg.c.30301","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.c.30301","pdf_url":null,"source":{"id":"https://openalex.org/S4210171603","display_name":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","issn_l":"1552-4868","issn":["1552-4868","1552-4876"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-2","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":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","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/A5039716945","display_name":"David H. Viskochil","orcid":"https://orcid.org/0000-0001-5364-3366","observed_orcids":["https://orcid.org/0000-0001-5364-3366"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]},{"id":"https://openalex.org/I4210108142","display_name":"Children's Tumor Foundation","ror":"https://ror.org/01hx92781","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210108142"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"David H. Viskochil","raw_affiliation_strings":["Division of Medical Genetics, Department of Pediatrics, School of Medicine, University of Utah, 2C412, 50 Mario Capecchi Drive, Salt Lake City, UT 84132, USA. dave.viskochil@hsc.utah.edu","David Viskochil, M.D., Ph.D. is professor of Pediatrics at the University of Utah. He is director of clinical genetics services in the division of medical genetics, and is co-director of the NF Clinic. He presently serves as chair of the Clinical Care Advisory Board of the Children's Tumor Foundation, and had a long-standing research interest in the molecular aspects of the NF1 gene and now focuses on clinical trials related to NF1","Division of Medical Genetics, Department of Pediatrics, School of Medicine, University of Utah, 2C412, 50 Mario Capecchi Drive, Salt Lake City, UT 84132, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Department of Pediatrics, School of Medicine, University of Utah, 2C412, 50 Mario Capecchi Drive, Salt Lake City, UT 84132, USA. dave.viskochil@hsc.utah.edu","institution_ids":["https://openalex.org/I223532165"]},{"raw_affiliation_string":"David Viskochil, M.D., Ph.D. is professor of Pediatrics at the University of Utah. He is director of clinical genetics services in the division of medical genetics, and is co-director of the NF Clinic. He presently serves as chair of the Clinical Care Advisory Board of the Children's Tumor Foundation, and had a long-standing research interest in the molecular aspects of the NF1 gene and now focuses on clinical trials related to NF1","institution_ids":["https://openalex.org/I223532165","https://openalex.org/I4210108142"]},{"raw_affiliation_string":"Division of Medical Genetics, Department of Pediatrics, School of Medicine, University of Utah, 2C412, 50 Mario Capecchi Drive, Salt Lake City, UT 84132, USA","institution_ids":["https://openalex.org/I223532165"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5039716945"],"corresponding_institution_ids":["https://openalex.org/I223532165","https://openalex.org/I4210108142"],"apc_list":{"value":3460,"currency":"USD","value_usd":3460},"apc_paid":null,"fwci":0.3883,"has_fulltext":false,"cited_by_count":5,"citation_normalized_percentile":{"value":0.58963146,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"157","issue":"2","first_page":"79","last_page":"82"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10169","display_name":"Protein Kinase Regulation and GTPase Signaling","score":0.8276000022888184,"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"}},"topics":[{"id":"https://openalex.org/T10169","display_name":"Protein Kinase Regulation and GTPase Signaling","score":0.8276000022888184,"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"}},{"id":"https://openalex.org/T12104","display_name":"Protein Tyrosine Phosphatases","score":0.1152999997138977,"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"}},{"id":"https://openalex.org/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","score":0.014499999582767487,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"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/ras-signaling","display_name":"Ras signaling","score":0.8889999985694885},{"id":"https://openalex.org/keywords/rasopathies","display_name":"RASopathies","score":0.7639999985694885},{"id":"https://openalex.org/keywords/ras-mapk-pathway","display_name":"RAS/MAPK pathway","score":0.6800000071525574},{"id":"https://openalex.org/keywords/genetic-disorders","display_name":"genetic disorders","score":0.5839999914169312},{"id":"https://openalex.org/keywords/noonan-syndrome","display_name":"Noonan syndrome","score":0.6710000038146973},{"id":"https://openalex.org/keywords/costello-syndrome","display_name":"Costello syndrome","score":0.7269999980926514},{"id":"https://openalex.org/keywords/cardiofaciocutaneous-syndrome","display_name":"cardiofaciocutaneous syndrome","score":0.7440000176429749}],"concepts":[{"id":"https://openalex.org/C2991991741","wikidata":"https://www.wikidata.org/wiki/Q188025","display_name":"Salt lake","level":3,"score":0.760266900062561},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.6417021751403809},{"id":"https://openalex.org/C2993838110","wikidata":"https://www.wikidata.org/wiki/Q494230","display_name":"Medical school","level":2,"score":0.4774342477321625},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4454386234283447},{"id":"https://openalex.org/C512399662","wikidata":"https://www.wikidata.org/wiki/Q3505712","display_name":"Family medicine","level":1,"score":0.4275439977645874},{"id":"https://openalex.org/C161191863","wikidata":"https://www.wikidata.org/wiki/Q199655","display_name":"Library science","level":1,"score":0.41982078552246094},{"id":"https://openalex.org/C74909509","wikidata":"https://www.wikidata.org/wiki/Q10387","display_name":"Gerontology","level":1,"score":0.334958553314209},{"id":"https://openalex.org/C509550671","wikidata":"https://www.wikidata.org/wiki/Q126945","display_name":"Medical education","level":1,"score":0.26184412837028503},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.18699407577514648},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.13185575604438782},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.0},{"id":"https://openalex.org/C109007969","wikidata":"https://www.wikidata.org/wiki/Q749565","display_name":"Structural basin","level":2,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010766","descriptor_name":"Phosphorylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010766","descriptor_name":"Phosphorylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010766","descriptor_name":"Phosphorylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015398","descriptor_name":"Signal Transduction","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D015398","descriptor_name":"Signal Transduction","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D015398","descriptor_name":"Signal Transduction","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D016283","descriptor_name":"Proto-Oncogene Proteins p21(ras)","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016283","descriptor_name":"Proto-Oncogene Proteins p21(ras)","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016283","descriptor_name":"Proto-Oncogene Proteins p21(ras)","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016283","descriptor_name":"Proto-Oncogene Proteins p21(ras)","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D016283","descriptor_name":"Proto-Oncogene Proteins p21(ras)","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D016283","descriptor_name":"Proto-Oncogene Proteins p21(ras)","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.c.30301","doi":"https://doi.org/10.1002/ajmg.c.30301","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.c.30301","pdf_url":null,"source":{"id":"https://openalex.org/S4210171603","display_name":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","issn_l":"1552-4868","issn":["1552-4868","1552-4876"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-2","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":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","raw_type":"journal-article"},{"id":"pmid:21495180","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21495180","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":"American journal of medical genetics. Part C, Seminars in medical genetics","raw_type":"Introductory Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[],"sustainable_development_goals_aurora":[{"score":0.44999998807907104,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":33,"referenced_works":["https://openalex.org/W1488372279","https://openalex.org/W1881020850","https://openalex.org/W1982232165","https://openalex.org/W1988365643","https://openalex.org/W1988797187","https://openalex.org/W1992409084","https://openalex.org/W1997385847","https://openalex.org/W1998132110","https://openalex.org/W2005508652","https://openalex.org/W2007119474","https://openalex.org/W2008409383","https://openalex.org/W2010926229","https://openalex.org/W2022971724","https://openalex.org/W2023823280","https://openalex.org/W2033486597","https://openalex.org/W2039117920","https://openalex.org/W2042371773","https://openalex.org/W2056765060","https://openalex.org/W2061906765","https://openalex.org/W2067900929","https://openalex.org/W2071893342","https://openalex.org/W2072776042","https://openalex.org/W2109487895","https://openalex.org/W2122184612","https://openalex.org/W2142271737","https://openalex.org/W2151067616","https://openalex.org/W2157083579","https://openalex.org/W2159096148","https://openalex.org/W2173375561","https://openalex.org/W2332229456","https://openalex.org/W3020408137","https://openalex.org/W4239129777","https://openalex.org/W7075996977"],"related_works":["https://openalex.org/W4312066937","https://openalex.org/W2134835844","https://openalex.org/W4252826600","https://openalex.org/W2034270135","https://openalex.org/W1975808930","https://openalex.org/W2345994763","https://openalex.org/W7223620979","https://openalex.org/W4255521570","https://openalex.org/W2132815174","https://openalex.org/W2748617507"],"abstract_inverted_index":null,"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-09-23T05:00:35.095934","created_date":"2016-06-24T00:00:00"}