{"id":"https://openalex.org/W2184724735","doi":null,"title":"LANDSCAPE OF MONOGENIC DIABETES IN THE THIRD MILLENIUM","display_name":"LANDSCAPE OF MONOGENIC DIABETES IN THE THIRD MILLENIUM","publication_year":2013,"publication_date":"2013-01-01","ids":{"openalex":"https://openalex.org/W2184724735","mag":"2184724735"},"language":"en","primary_location":{"id":"mag:2184724735","doi":null,"is_oa":false,"landing_page_url":"http://www.academiaromana.ro/sectii2002/proceedingsChemistry/doc2013-3/art04Guja.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"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/A5002278673","display_name":"Cristian Guja","orcid":"https://orcid.org/0000-0002-8703-0522","observed_orcids":["https://orcid.org/0000-0002-8703-0522"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Cristian Guja","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-8703-0522","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005577524","display_name":"Loreta Guja","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Loreta Guja","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023344080","display_name":"Paul Aurelian Gagniuc","orcid":"https://orcid.org/0000-0001-9350-1530","observed_orcids":["https://orcid.org/0000-0001-9350-1530"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Paul A. Gagniuc","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-9350-1530","affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5064557190","display_name":"Constantin Ionescu-T\u00eergovite","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Constantin Ionescu-T\u00eergovite","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":0.1645,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.54062541,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11171","display_name":"Diabetes and associated disorders","score":0.885699987411499,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T11171","display_name":"Diabetes and associated disorders","score":0.885699987411499,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10839","display_name":"Pancreatic function and diabetes","score":0.09229999780654907,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.008899999782443047,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/monogenic-diabetes","display_name":"monogenic diabetes","score":1.0},{"id":"https://openalex.org/keywords/diabetes-mellitus","display_name":"diabetes mellitus","score":0.6499999761581421},{"id":"https://openalex.org/keywords/type-1-diabetes","display_name":"type 1 diabetes","score":0.7620000243186951},{"id":"https://openalex.org/keywords/type-2-diabetes","display_name":"type 2 diabetes","score":1.0},{"id":"https://openalex.org/keywords/maturity-onset-diabetes-of-the-young","display_name":"maturity-onset diabetes of the young","score":0.8379999995231628},{"id":"https://openalex.org/keywords/neonatal-diabetes-mellitus","display_name":"neonatal diabetes","score":0.9919999837875366},{"id":"https://openalex.org/keywords/single-gene-mutations","display_name":"single-gene mutations","score":0.7559999823570251},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.75},{"id":"https://openalex.org/keywords/pathogenesis-of-diabetes","display_name":"diabetes pathogenesis","score":0.8790000081062317}],"concepts":[{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.7906272411346436},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6471961140632629},{"id":"https://openalex.org/C2777180221","wikidata":"https://www.wikidata.org/wiki/Q3025883","display_name":"Type 2 diabetes","level":3,"score":0.6097000241279602},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5583954453468323},{"id":"https://openalex.org/C2780203522","wikidata":"https://www.wikidata.org/wiki/Q663041","display_name":"Maturity onset diabetes of the young","level":4,"score":0.4784714877605438},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4501707851886749},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.43650054931640625},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4159104526042938},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.36971166729927063},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2943980097770691},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.22738927602767944}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2184724735","doi":null,"is_oa":false,"landing_page_url":"http://www.academiaromana.ro/sectii2002/proceedingsChemistry/doc2013-3/art04Guja.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":130,"referenced_works":["https://openalex.org/W8631552","https://openalex.org/W86585096","https://openalex.org/W1505761263","https://openalex.org/W1537012732","https://openalex.org/W1575068125","https://openalex.org/W1964974762","https://openalex.org/W1965141219","https://openalex.org/W1965814437","https://openalex.org/W1966252841","https://openalex.org/W1966852147","https://openalex.org/W1967093093","https://openalex.org/W1967753627","https://openalex.org/W1967893272","https://openalex.org/W1968316812","https://openalex.org/W1970816170","https://openalex.org/W1970897847","https://openalex.org/W1971308324","https://openalex.org/W1972849344","https://openalex.org/W1976002091","https://openalex.org/W1977174816","https://openalex.org/W1977920296","https://openalex.org/W1978752074","https://openalex.org/W1979754659","https://openalex.org/W1980405692","https://openalex.org/W1986381180","https://openalex.org/W1987534913","https://openalex.org/W1990584688","https://openalex.org/W1992045485","https://openalex.org/W1992479347","https://openalex.org/W1993667769","https://openalex.org/W1994750562","https://openalex.org/W1995936978","https://openalex.org/W1996365923","https://openalex.org/W1996720932","https://openalex.org/W1997631595","https://openalex.org/W2001850534","https://openalex.org/W2003273175","https://openalex.org/W2005192122","https://openalex.org/W2006222496","https://openalex.org/W2007733215","https://openalex.org/W2012515461","https://openalex.org/W2019380425","https://openalex.org/W2022635471","https://openalex.org/W2023243567","https://openalex.org/W2026918461","https://openalex.org/W2028020995","https://openalex.org/W2029901313","https://openalex.org/W2031276095","https://openalex.org/W2032747787","https://openalex.org/W2038353863","https://openalex.org/W2038888939","https://openalex.org/W2038970030","https://openalex.org/W2045409504","https://openalex.org/W2046190285","https://openalex.org/W2050885391","https://openalex.org/W2050915787","https://openalex.org/W2051392421","https://openalex.org/W2052100581","https://openalex.org/W2053141759","https://openalex.org/W2053192349","https://openalex.org/W2056139024","https://openalex.org/W2057546522","https://openalex.org/W2057899710","https://openalex.org/W2061766603","https://openalex.org/W2062206625","https://openalex.org/W2063909610","https://openalex.org/W2067181747","https://openalex.org/W2069599670","https://openalex.org/W2071013743","https://openalex.org/W2073017460","https://openalex.org/W2073291608","https://openalex.org/W2075266492","https://openalex.org/W2082419614","https://openalex.org/W2083584165","https://openalex.org/W2083763674","https://openalex.org/W2087577070","https://openalex.org/W2089370298","https://openalex.org/W2090375415","https://openalex.org/W2090477878","https://openalex.org/W2096869005","https://openalex.org/W2099057503","https://openalex.org/W2100526574","https://openalex.org/W2101260083","https://openalex.org/W2103311737","https://openalex.org/W2105801650","https://openalex.org/W2107950101","https://openalex.org/W2108147094","https://openalex.org/W2108372345","https://openalex.org/W2111546536","https://openalex.org/W2112728838","https://openalex.org/W2113528410","https://openalex.org/W2113676079","https://openalex.org/W2113745162","https://openalex.org/W2114147184","https://openalex.org/W2114319582","https://openalex.org/W2114381989","https://openalex.org/W2115975835","https://openalex.org/W2116337790","https://openalex.org/W2116599892","https://openalex.org/W2117327349","https://openalex.org/W2118868252","https://openalex.org/W2119150204","https://openalex.org/W2119844425","https://openalex.org/W2119902047","https://openalex.org/W2126487957","https://openalex.org/W2133857188","https://openalex.org/W2136708204","https://openalex.org/W2137087583","https://openalex.org/W2140331829","https://openalex.org/W2140564873","https://openalex.org/W2145119064","https://openalex.org/W2145869245","https://openalex.org/W2154848747","https://openalex.org/W2155078339","https://openalex.org/W2156157734","https://openalex.org/W2157597987","https://openalex.org/W2160212328","https://openalex.org/W2162590815","https://openalex.org/W2163470744","https://openalex.org/W2164438031","https://openalex.org/W2165848705","https://openalex.org/W2167981935","https://openalex.org/W2170024682","https://openalex.org/W2186884189","https://openalex.org/W2266428010","https://openalex.org/W2313891780","https://openalex.org/W2339778344","https://openalex.org/W2407398448","https://openalex.org/W2413778097","https://openalex.org/W2520432709"],"related_works":["https://openalex.org/W4392288279","https://openalex.org/W7204195658","https://openalex.org/W3031208491","https://openalex.org/W2055009087","https://openalex.org/W3122935078","https://openalex.org/W4241647601","https://openalex.org/W4321506115","https://openalex.org/W3032098038","https://openalex.org/W3031914356","https://openalex.org/W4399041971"],"abstract_inverted_index":{"Diabetes":[0],"mellitus":[1],"is":[2],"one":[3,12],"of":[4,13,21,30,49,59,71,88,93,103,109,115],"the":[5,14,18,46,60,69,76,101,116],"most":[6,15],"common":[7,19,78],"chronic":[8],"diseases":[9],"but":[10],"also":[11],"heterogeneous.":[16],"Apart":[17],"phenotypes":[20,53],"type":[22,25,79],"1":[23],"and":[24,39,66,106],"2":[26,80],"diabetes,":[27],"around":[28],"1-2%":[29],"all":[31],"cases":[32],"arise":[33],"from":[34],"a":[35,56,97],"single":[36],"gene":[37],"mutation":[38],"are":[40],"known":[41],"as":[42],"monogenic":[43,91],"diabetes.":[44],"Unraveling":[45],"genetic":[47,86],"causes":[48],"these":[50,89],"rare":[51,90],"diabetes":[52,81,94,105,114],"led":[54,95],"to":[55,96],"better":[57,107],"understanding":[58],"molecular":[61],"mechanisms":[62],"involved":[63],"in":[64,68,100],"diabetogenesis":[65],"helped":[67],"identification":[70],"some":[72],"causal":[73],"genes":[74],"for":[75],"more":[77],"phenotype.":[82],"In":[83],"addition,":[84],"personalized":[85],"diagnosis":[87],"forms":[92],"major":[98],"change":[99],"treatment":[102],"neonatal":[104],"care":[108],"patients":[110],"with":[111],"maturity":[112],"onset":[113],"young":[117],"(MODY).":[118]},"counts_by_year":[{"year":2014,"cited_by_count":1}],"updated_date":"2026-09-22T06:50:58.402377","created_date":"2016-06-24T00:00:00"}