{"id":"https://openalex.org/W1486965665","doi":null,"title":"The phenotypes associated with ret mutations in the multiple endocrine neoplasia type 2 syndrome.","display_name":"The phenotypes associated with ret mutations in the multiple endocrine neoplasia type 2 syndrome.","publication_year":1999,"publication_date":"1999-04-01","ids":{"openalex":"https://openalex.org/W1486965665","mag":"1486965665","pmid":"https://pubmed.ncbi.nlm.nih.gov/10197589"},"language":"en","primary_location":{"id":"pmid:10197589","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10197589","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":"Cancer research","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/A5112173647","display_name":"B A Ponder","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"B A Ponder","raw_affiliation_strings":["Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, United Kingdom","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210156194"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5112173647"],"corresponding_institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210156194"],"apc_list":null,"apc_paid":null,"fwci":5.8983,"has_fulltext":false,"cited_by_count":104,"citation_normalized_percentile":{"value":0.96728164,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"59","issue":"7 Suppl","first_page":"1736s","last_page":"1741s; discussion 1742s"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10329","display_name":"Thyroid Cancer Diagnosis and Treatment","score":0.6528000235557556,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T10329","display_name":"Thyroid Cancer Diagnosis and Treatment","score":0.6528000235557556,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T12237","display_name":"Congenital gastrointestinal and neural anomalies","score":0.06360000371932983,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T10754","display_name":"Neuroendocrine Tumor Research Advances","score":0.054099999368190765,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/ret-proto-oncogene","display_name":"RET proto-oncogene","score":0.8769999742507935},{"id":"https://openalex.org/keywords/multiple-endocrine-neoplasia-type-2","display_name":"multiple endocrine neoplasia type 2","score":0.949999988079071},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8960000276565552},{"id":"https://openalex.org/keywords/ret-receptor-tyrosine-kinase","display_name":"RET receptor tyrosine kinase","score":0.8270000219345093},{"id":"https://openalex.org/keywords/substrate-specificity","display_name":"substrate specificity","score":0.8519999980926514},{"id":"https://openalex.org/keywords/hirschsprung-disease","display_name":"Hirschsprung disease","score":0.906000018119812},{"id":"https://openalex.org/keywords/enteric-nervous-system","display_name":"enteric nervous system","score":0.8539999723434448},{"id":"https://openalex.org/keywords/modifier-genes","display_name":"genetic modifiers","score":0.7160000205039978},{"id":"https://openalex.org/keywords/hereditary-cancer-syndromes","display_name":"hereditary cancer","score":0.6850000023841858},{"id":"https://openalex.org/keywords/thyroid-c-cells","display_name":"thyroid C cells","score":0.8690000176429749},{"id":"https://openalex.org/keywords/adrenal-medulla","display_name":"adrenal medulla","score":0.9819999933242798}],"concepts":[{"id":"https://openalex.org/C2776512331","wikidata":"https://www.wikidata.org/wiki/Q604075","display_name":"Multiple endocrine neoplasia type 2","level":5,"score":0.8844024538993835},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6606630086898804},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6542374491691589},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5700653791427612},{"id":"https://openalex.org/C2780103800","wikidata":"https://www.wikidata.org/wiki/Q1553018","display_name":"Multiple endocrine neoplasia","level":3,"score":0.542273223400116},{"id":"https://openalex.org/C2908751931","wikidata":"https://www.wikidata.org/wiki/Q415976","display_name":"Proto-Oncogene Proteins c-ret","level":5,"score":0.5200017094612122},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.513971745967865},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.47485068440437317},{"id":"https://openalex.org/C42362537","wikidata":"https://www.wikidata.org/wiki/Q87099740","display_name":"Tyrosine kinase","level":3,"score":0.42981216311454773},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3531554043292999},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3013606667518616},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.19903770089149475},{"id":"https://openalex.org/C62478195","wikidata":"https://www.wikidata.org/wiki/Q828130","display_name":"Signal transduction","level":2,"score":0.11552724242210388},{"id":"https://openalex.org/C185856081","wikidata":"https://www.wikidata.org/wiki/Q14916286","display_name":"Glial cell line-derived neurotrophic factor","level":4,"score":0.11545002460479736},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0},{"id":"https://openalex.org/C160539049","wikidata":"https://www.wikidata.org/wiki/Q3064187","display_name":"Neurotrophic factors","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004789","descriptor_name":"Enzyme Activation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","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":true},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018813","descriptor_name":"Multiple Endocrine Neoplasia Type 2a","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018814","descriptor_name":"Multiple Endocrine Neoplasia Type 2b","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020794","descriptor_name":"Receptor Protein-Tyrosine Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D029721","descriptor_name":"Drosophila Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D051096","descriptor_name":"Proto-Oncogene Proteins c-ret","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:10197589","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10197589","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":"Cancer research","raw_type":"Journal Article"},{"id":"mag:1486965665","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10197589","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":0.9763000011444092}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":52,"referenced_works":["https://openalex.org/W13431249","https://openalex.org/W35219226","https://openalex.org/W112407545","https://openalex.org/W207587488","https://openalex.org/W1510857662","https://openalex.org/W1563045893","https://openalex.org/W1565566882","https://openalex.org/W1578346366","https://openalex.org/W1581876628","https://openalex.org/W1601190908","https://openalex.org/W1964893667","https://openalex.org/W1977133363","https://openalex.org/W1977854463","https://openalex.org/W1987606251","https://openalex.org/W1989459028","https://openalex.org/W2008102290","https://openalex.org/W2015127215","https://openalex.org/W2018214833","https://openalex.org/W2020257412","https://openalex.org/W2024077515","https://openalex.org/W2026907934","https://openalex.org/W2027963090","https://openalex.org/W2031238707","https://openalex.org/W2032457962","https://openalex.org/W2070641789","https://openalex.org/W2083970030","https://openalex.org/W2087619652","https://openalex.org/W2096710550","https://openalex.org/W2097646897","https://openalex.org/W2101151768","https://openalex.org/W2105173027","https://openalex.org/W2105376760","https://openalex.org/W2106639435","https://openalex.org/W2110585482","https://openalex.org/W2113946250","https://openalex.org/W2134894529","https://openalex.org/W2139696718","https://openalex.org/W2147994473","https://openalex.org/W2153406820","https://openalex.org/W2155519338","https://openalex.org/W2155950685","https://openalex.org/W2156763778","https://openalex.org/W2160144124","https://openalex.org/W2161704465","https://openalex.org/W2164425344","https://openalex.org/W2167423680","https://openalex.org/W2182013839","https://openalex.org/W2300396009","https://openalex.org/W2323916369","https://openalex.org/W2410960202","https://openalex.org/W2417806611","https://openalex.org/W2426716536"],"related_works":["https://openalex.org/W7099894649","https://openalex.org/W2423865825","https://openalex.org/W44171188","https://openalex.org/W2113242315","https://openalex.org/W2165818580","https://openalex.org/W2025448669","https://openalex.org/W4403678777","https://openalex.org/W4388166588","https://openalex.org/W2171616698","https://openalex.org/W2018094311"],"abstract_inverted_index":{"Different":[0],"specific":[1],"mutations":[2,54,114,132,156],"in":[3,56,76,97,100,107,133,151],"the":[4,15,67,86,91,108,127,137,158,163,174,178,185],"ret":[5,71,103,116,155],"tyrosine":[6,69],"kinase":[7],"give":[8],"rise":[9,84],"to":[10,85,118,142],"different":[11,46,53,154],"clinical":[12],"types":[13],"of":[14,38,48,59,66,79,115,126,136,147,176,187],"inherited":[16],"cancer":[17],"syndrome":[18,140],"multiple":[19],"endocrine":[20],"neoplasia":[21],"type":[22],"2":[23,139],"(MEN":[24],"2).":[25],"The":[26,145],"explanation":[27],"for":[28,173],"these":[29],"genotype-phenotype":[30],"correlations":[31],"is":[32,72,104],"not":[33],"yet":[34],"certain.":[35],"Several":[36],"lines":[37],"evidence":[39],"suggest":[40],"that":[41,82],"they":[42],"result":[43],"either":[44],"from":[45,62],"levels":[47],"RET":[49,68],"activation":[50],"induced":[51],"by":[52],"or,":[55],"one":[57,134],"class":[58],"mutation,":[60],"possibly":[61],"altered":[63],"substrate":[64],"specificity":[65],"kinase.":[70],"expressed":[73,106],"during":[74],"development":[75],"a":[77,121,167],"lineage":[78],"neuroectodermal":[80],"cells":[81,89],"gives":[83],"thyroid":[87],"C":[88],"and":[90,157,170,182,184],"adrenal":[92],"medulla,":[93],"which":[94],"are":[95],"involved":[96],"tumor":[98],"formation":[99],"MEN":[101,138],"2.":[102],"also":[105],"enteric":[109,128],"autonomic":[110],"nervous":[111],"system.":[112],"Inactivating":[113],"lead":[117,141],"Hirschsprung's":[119],"disease,":[120],"congenital":[122],"absence":[123],"or":[124],"maldevelopment":[125],"plexuses,":[129],"whereas":[130],"activating":[131],"variety":[135],"their":[143],"overgrowth.":[144],"range":[146],"phenotypic":[148],"expression":[149],"seen":[150],"families":[152,161],"with":[153,162],"variation":[159],"within":[160],"same":[164],"mutation":[165],"provide":[166],"potentially":[168],"interesting":[169],"tractable":[171],"system":[172],"analysis":[175],"both":[177],"relationship":[179],"between":[180],"phenotype":[181],"genotype":[183],"effects":[186],"modifier":[188],"genes.":[189]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}