{"id":"https://openalex.org/W2184070737","doi":null,"title":"Molecular Genetics in Diagnosis and Prognosis of Philadelphia Chromosome Negative Myeloproliferative Neoplasms. Molecular genetics in MPNs","display_name":"Molecular Genetics in Diagnosis and Prognosis of Philadelphia Chromosome Negative Myeloproliferative Neoplasms. Molecular genetics in MPNs","publication_year":2012,"publication_date":"2012-07-31","ids":{"openalex":"https://openalex.org/W2184070737","mag":"2184070737"},"language":"en","primary_location":{"id":"mag:2184070737","doi":null,"is_oa":false,"landing_page_url":"https://www.onkologiecs.cz/pdfs/xon/2012/03/05.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Onkologie","raw_type":null},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"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/A5046772202","display_name":"Alessandro Maria Vannucchi","orcid":"https://orcid.org/0000-0001-5755-0730","observed_orcids":["https://orcid.org/0000-0001-5755-0730"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alessandro M. Vannucchi","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-5755-0730","affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5013539196","display_name":"Paola Guglielmelli","orcid":"https://orcid.org/0000-0003-1809-284X","observed_orcids":["https://orcid.org/0000-0003-1809-284X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Paola Guglielmelli","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":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.17974318,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"6","issue":"3","first_page":"146","last_page":"151"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11628","display_name":"Myeloproliferative Neoplasms: Diagnosis and Treatment","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T11628","display_name":"Myeloproliferative Neoplasms: Diagnosis and Treatment","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T10309","display_name":"Acute Myeloid Leukemia Research","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T10746","display_name":"Platelet Disorders and Treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/philadelphia-chromosome-negative-myeloproliferative-neoplasms","display_name":"Philadelphia-negative myeloproliferative neoplasms","score":0.9020000100135803},{"id":"https://openalex.org/keywords/jak2-v617f-mutation","display_name":"JAK2 V617F mutation","score":0.9330000281333923},{"id":"https://openalex.org/keywords/jak-stat-signaling","display_name":"JAK/STAT signaling","score":0.9139999747276306},{"id":"https://openalex.org/keywords/jak2-inhibitors","display_name":"JAK2 inhibitors","score":0.8859999775886536},{"id":"https://openalex.org/keywords/secondary-mutations","display_name":"secondary mutations","score":0.5690000057220459},{"id":"https://openalex.org/keywords/epigenetic-regulation","display_name":"epigenetic regulation","score":0.7319999933242798},{"id":"https://openalex.org/keywords/rna-splicing","display_name":"RNA splicing","score":0.8059999942779541},{"id":"https://openalex.org/keywords/myelodysplastic-syndrome","display_name":"myelodysplastic syndrome","score":0.9589999914169312},{"id":"https://openalex.org/keywords/clonal-evolution","display_name":"clonal evolution","score":0.8199999928474426},{"id":"https://openalex.org/keywords/genomic-instability","display_name":"genomic instability","score":0.8790000081062317},{"id":"https://openalex.org/keywords/familial-aggregation","display_name":"familial aggregation","score":0.8659999966621399},{"id":"https://openalex.org/keywords/diagnosis","display_name":"diagnosis","score":0.6809999942779541},{"id":"https://openalex.org/keywords/prognosis","display_name":"prognosis","score":0.9990000128746033}],"concepts":[{"id":"https://openalex.org/C204315192","wikidata":"https://www.wikidata.org/wiki/Q210506","display_name":"Molecular genetics","level":3,"score":0.6272582411766052},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.579110324382782},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5307053923606873},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.4411900043487549},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4214818477630615},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3440331220626831},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.3374297618865967}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2184070737","doi":null,"is_oa":false,"landing_page_url":"https://www.onkologiecs.cz/pdfs/xon/2012/03/05.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Onkologie","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":84,"referenced_works":["https://openalex.org/W1963736125","https://openalex.org/W1970390241","https://openalex.org/W1970553871","https://openalex.org/W1978652970","https://openalex.org/W1980407629","https://openalex.org/W1980568348","https://openalex.org/W1981240373","https://openalex.org/W1982105192","https://openalex.org/W1983611328","https://openalex.org/W1989798215","https://openalex.org/W1992726393","https://openalex.org/W1995370367","https://openalex.org/W1996591949","https://openalex.org/W1997127542","https://openalex.org/W1997560018","https://openalex.org/W1999701140","https://openalex.org/W2006814797","https://openalex.org/W2007487257","https://openalex.org/W2009130073","https://openalex.org/W2009902838","https://openalex.org/W2010318973","https://openalex.org/W2012686883","https://openalex.org/W2013726626","https://openalex.org/W2013738288","https://openalex.org/W2014268597","https://openalex.org/W2015662674","https://openalex.org/W2020160910","https://openalex.org/W2022159066","https://openalex.org/W2022852792","https://openalex.org/W2022930434","https://openalex.org/W2025628690","https://openalex.org/W2028390656","https://openalex.org/W2028803880","https://openalex.org/W2037959451","https://openalex.org/W2038345114","https://openalex.org/W2040699798","https://openalex.org/W2043948941","https://openalex.org/W2045477530","https://openalex.org/W2046294121","https://openalex.org/W2047897062","https://openalex.org/W2048322426","https://openalex.org/W2049112496","https://openalex.org/W2049145190","https://openalex.org/W2049793290","https://openalex.org/W2051456036","https://openalex.org/W2054753195","https://openalex.org/W2056777053","https://openalex.org/W2057129764","https://openalex.org/W2057360098","https://openalex.org/W2059130068","https://openalex.org/W2060723284","https://openalex.org/W2062455176","https://openalex.org/W2064690570","https://openalex.org/W2066465348","https://openalex.org/W2073726802","https://openalex.org/W2073889874","https://openalex.org/W2075125336","https://openalex.org/W2079532825","https://openalex.org/W2080852217","https://openalex.org/W2082710561","https://openalex.org/W2085325045","https://openalex.org/W2088045605","https://openalex.org/W2093290834","https://openalex.org/W2097743943","https://openalex.org/W2104287429","https://openalex.org/W2108664872","https://openalex.org/W2115400483","https://openalex.org/W2116878961","https://openalex.org/W2121497524","https://openalex.org/W2121743767","https://openalex.org/W2128557272","https://openalex.org/W2143039662","https://openalex.org/W2143471728","https://openalex.org/W2144664431","https://openalex.org/W2144892629","https://openalex.org/W2146505525","https://openalex.org/W2147370638","https://openalex.org/W2148101855","https://openalex.org/W2152894520","https://openalex.org/W2155986898","https://openalex.org/W2159962994","https://openalex.org/W2162013503","https://openalex.org/W2167750080","https://openalex.org/W2315939671"],"related_works":["https://openalex.org/W2014415793","https://openalex.org/W2416694183","https://openalex.org/W2282493246","https://openalex.org/W3049073700","https://openalex.org/W2187263389","https://openalex.org/W2097635628","https://openalex.org/W2551514518","https://openalex.org/W2061289307","https://openalex.org/W2080444865","https://openalex.org/W2103358945"],"abstract_inverted_index":{"Chronic":[0],"myeloproliferative":[1],"neoplasms":[2],"(MPNs)":[3],"represent":[4],"a":[5,20,44,127,145],"heterogeneous":[6],"group":[7],"of":[8,19,39,47,59,88,95,105,124,129,144,157,160,172,180,183],"myeloid":[9],"neoplasia":[10],"whose":[11],"molecular":[12,36,181],"asset":[13],"is":[14,43,85,175],"marked":[15],"\r\nby":[16],"the":[17,40,57,86,92,120,142,155],"presence":[18],"JAK2V617F":[21],"mutation.":[22],"Following":[23],"this":[24,140,173],"seminal":[25],"discovery,":[26],"several":[27],"other":[28,163],"mutations":[29,71,107],"have":[30],"been":[31,67],"identified":[32],"highlighting":[33],"an":[34,152],"\r\nunexpected":[35],"complexity.":[37],"Deregulation":[38],"JAK/STAT":[41],"pathway":[42],"central":[45],"feature":[46],"MPNs":[48,125,184],"and,":[49],"although":[50,162],"it":[51,65],"has":[52,66],"raised":[53],"much":[54],"\r\ninterest":[55],"for":[56,154,189],"possibility":[58],"targeted":[60],"therapy":[61],"with":[62,112],"JAK2":[63,70,150],"inhibitors,":[64],"realized":[68],"that":[69,132],"are":[72,108,167],"secondary":[73],"mutational":[74],"\r\nevents":[75],"in":[76,91,101,149],"most,":[77],"if":[78],"not":[79],"all,":[80],"cases.":[81],"Another":[82],"recurrent":[83],"theme":[84],"involvement":[87],"genes":[89],"intervening":[90],"epigenetic":[93],"control":[94],"gene":[96],"expression":[97],"\r\nand,":[98],"more":[99],"recently,":[100],"RNA":[102],"splicing.":[103],"Most":[104],"these":[106],"shared":[109],"by":[110],"patients":[111],"myelodysplastic":[113],"syndromes":[114],"as":[115],"well.":[116],"\r\nStudies":[117],"focusing":[118],"on":[119],"complex":[121],"clonal":[122],"hierarchy":[123],"suggest":[126],"condition":[128],"genetic":[130],"instability,":[131],"could":[133],"be":[134],"either":[135],"acquired":[136],"or":[137],"\r\ninherited.":[138],"At":[139],"regard,":[141],"discovery":[143],"specific":[146],"germline":[147],"haplotype":[148],"provided":[151],"explanation":[153],"phenomenon":[156],"familial":[158],"\r\nclustering":[159],"MPNs,":[161],"still":[164],"unknown":[165],"haplotypes":[166],"likely":[168],"involved.":[169],"The":[170],"aim":[171],"review":[174],"to":[176],"summarize":[177],"current":[178],"knowledge":[179],"abnormalities":[182],"and":[185,191],"discuss":[186],"their":[187],"role":[188],"diagnosis":[190],"prognosis.":[192]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
