{"id":"https://openalex.org/W138363953","doi":null,"title":"RELATIONSHIP BETWEEN FMRP EXPRESSIONIN CELL FROM HAIR ROOTS AND BLOOD SMEARSWITH COGNITIVE FUNCTIONING IN FRAGILE XFULL MUTATION FEMALE","display_name":"RELATIONSHIP BETWEEN FMRP EXPRESSIONIN CELL FROM HAIR ROOTS AND BLOOD SMEARSWITH COGNITIVE FUNCTIONING IN FRAGILE XFULL MUTATION FEMALE","publication_year":2009,"publication_date":"2009-01-01","ids":{"openalex":"https://openalex.org/W138363953","mag":"138363953"},"language":"en","primary_location":{"id":"mag:138363953","doi":null,"is_oa":false,"landing_page_url":"http://eprints.undip.ac.id/28905/1/Lantip_Rujito_Tesis.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":"dissertation","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/A5046128553","display_name":"Lantip Rujito","orcid":"https://orcid.org/0000-0001-6595-3265","observed_orcids":["https://orcid.org/0000-0001-6595-3265"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Lantip Rujito","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-6595-3265","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5046128553"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":1.0,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":1.0,"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"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/fragile-x-syndrome","display_name":"fragile X syndrome","score":0.878000020980835},{"id":"https://openalex.org/keywords/fmr1-full-mutation","display_name":"FMR1 full mutation","score":0.7929999828338623},{"id":"https://openalex.org/keywords/female-carriers","display_name":"female carriers","score":0.7070000171661377},{"id":"https://openalex.org/keywords/hair-roots","display_name":"hair roots","score":0.8960000276565552},{"id":"https://openalex.org/keywords/peripheral-blood-smear","display_name":"peripheral blood smear","score":0.6819999814033508},{"id":"https://openalex.org/keywords/lymphocytes","display_name":"lymphocytes","score":0.8730000257492065},{"id":"https://openalex.org/keywords/cognitive-function","display_name":"cognitive function","score":0.7710000276565552},{"id":"https://openalex.org/keywords/x-chromosome-inactivation","display_name":"X chromosome inactivation","score":0.6919999718666077},{"id":"https://openalex.org/keywords/cgg-repeat-expansion","display_name":"CGG repeat expansion","score":0.8539999723434448},{"id":"https://openalex.org/keywords/nonverbal-intelligence","display_name":"nonverbal intelligence","score":0.6600000262260437},{"id":"https://openalex.org/keywords/fmr1-premutation","display_name":"fragile X premutation","score":0.609000027179718},{"id":"https://openalex.org/keywords/prognostic-factors","display_name":"prognostic factors","score":0.6420000195503235},{"id":"https://openalex.org/keywords/standard-progressive-matrices","display_name":"Standard Progressive Matrices","score":0.5339999794960022},{"id":"https://openalex.org/keywords/raven-s-standard-progressive-matrices","display_name":"Raven's Standard Progressive Matrices","score":0.5329999923706055}],"concepts":[{"id":"https://openalex.org/C2777630245","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile X syndrome","level":2,"score":0.8019336462020874},{"id":"https://openalex.org/C2779063550","wikidata":"https://www.wikidata.org/wiki/Q905435","display_name":"FMR1","level":4,"score":0.7628405094146729},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5097491145133972},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.47093144059181213},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.45533743500709534},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.33120763301849365},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3112252950668335},{"id":"https://openalex.org/C3020422209","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile x","level":3,"score":0.1984238624572754}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:138363953","doi":null,"is_oa":false,"landing_page_url":"http://eprints.undip.ac.id/28905/1/Lantip_Rujito_Tesis.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","id":"https://metadata.un.org/sdg/3","score":0.9763000011444092}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":26,"referenced_works":["https://openalex.org/W1535983677","https://openalex.org/W1794950817","https://openalex.org/W1977182107","https://openalex.org/W1978236923","https://openalex.org/W1981298762","https://openalex.org/W1987246047","https://openalex.org/W1988488214","https://openalex.org/W1988498459","https://openalex.org/W1991587102","https://openalex.org/W2007532395","https://openalex.org/W2008406043","https://openalex.org/W2026219860","https://openalex.org/W2046460131","https://openalex.org/W2047901053","https://openalex.org/W2067324242","https://openalex.org/W2068306735","https://openalex.org/W2091926916","https://openalex.org/W2098756736","https://openalex.org/W2100770813","https://openalex.org/W2104680403","https://openalex.org/W2105322114","https://openalex.org/W2117874342","https://openalex.org/W2122888777","https://openalex.org/W2149919973","https://openalex.org/W2171469379","https://openalex.org/W2326122757"],"related_works":["https://openalex.org/W2625971920","https://openalex.org/W2052662102","https://openalex.org/W2068546024","https://openalex.org/W2040306383","https://openalex.org/W2171469379","https://openalex.org/W1982152698","https://openalex.org/W2051569168","https://openalex.org/W2117342187","https://openalex.org/W2150200318","https://openalex.org/W2149495205"],"abstract_inverted_index":{"Introduction:":[0],"Fragile":[1],"X":[2,27,79,88,204,288,381],"syndrome":[3],"is":[4,69],"the":[5,19,23,56,61,67,73,92,125,132,155,161,164,226,230,233,257,286,336,347,355],"most":[6],"common":[7],"form":[8],"of":[9,18,52,60,163,229,232,285,349,362],"inherited":[10],"mental\r\nretardation":[11],"in":[12,22,48,66,77,97,109,151,169,194,210,220,277,282,293,309,320,330,335,360,370],"humans,":[13],"caused":[14],"by":[15,237],"an":[16,202],"expansion":[17],"(CGG)":[20],"repeat":[21],"FMR1":[24,62],"gene\r\nlocated":[25],"on":[26,91,160],"chromosome.":[28],"Males":[29],"carrying":[30,39,114,171,185,372],"a":[31,40,115,140,172,187,211,250,271,373],"full":[32,41,116,173,289,374,384],"mutation":[33,42,117,174,290,375],"are":[34],"always":[35],"mentally\r\nretarded,":[36],"whereas":[37,292],"females":[38,113,170,184,371,383],"show":[43,139,256],"mild":[44,342],"to":[45,55,85,255],"moderate":[46],"mental\r\nimpairment":[47],"only":[49],"approximately":[50],"60%":[51],"cases,":[53],"due":[54],"X-inactivation":[57],"process.\r\nThe":[58],"absence":[59],"gene":[63],"product,":[64],"FMRP,":[65,386],"brain":[68,134],"hypothesized":[70],"as\r\ncausative":[71],"for":[72,124,167,217,368],"observed":[74],"mental":[75,126,343],"retardation":[76],"fragile":[78,87,287,380],"patients.":[80],"Antibody":[81],"tests\r\nhave":[82],"been":[83,105],"developed":[84,265],"identify":[86],"patients,":[89],"based":[90],"presence":[93],"or":[94,179,190],"absence\r\nof":[95],"FMRP":[96,149,218,275,307,377],"both":[98],"lymphocytes":[99,221,294],"and":[100,136,145,222,261,339],"hair":[101,110,177,223,278,315,363],"roots.":[102,316],"It":[103],"has":[104,365],"proposed":[106],"that":[107,306,324],"FMRP\r\nexpression":[108,144],"roots":[111,129,178,224,364],"from":[112,131,154,183,201],"may":[118,137],"be":[119,299],"used":[120],"as":[121],"a\r\nprognostic":[122],"value":[123],"capacities.":[127],"Hair":[128],"originate":[130],"ectoderm,\r\nlike":[133],"tissue,":[135],"therefore":[138],"better":[141],"correlation":[142,258,367],"between":[143,274],"cognitive":[146,280,387],"functioning":[147,281,388],"than":[148,314,376],"expression":[150,219,260,276,308,359,378],"lymphocytes,":[152],"which\r\noriginate":[153],"mesoderm.\r\nObjectives:":[156],"This":[157],"study":[158,322,351],"focussed":[159],"relationship":[162,273,297],"antibody":[165,227],"test":[166],"cognitive\r\nfunctioning":[168,369],"using":[175,225,244,266],"either":[176,186],"bloodsmears.\r\nMethod:":[180],"Thirty":[181],"samples":[182],"normal,":[188],"premutation":[189],"full\r\nmutation":[191],"were":[192,199,208,242,326],"included":[193],"this":[195],"study.":[196],"All":[197,214],"subjects":[198,215,234],"selected":[200],"Indonesian\r\nfragile":[203],"family.":[205],"The":[206],"analyses":[207],"performed":[209],"blind":[212],"fashion.":[213],"were\r\ntested":[216],"test.\r\nClassification":[228],"genotypes":[231],"was":[235,264,353],"obtained":[236],"Southern":[238],"blot\r\nanalysis.":[239],"IQ":[240,262],"equivalent":[241,263],"determined":[243],"Standard":[245],"Progressive":[246],"Matrices":[247],"(SPM)\r\nfrom":[248],"Raven,":[249],"non-verbal":[251],"IQ-test.":[252],"Statistical":[253],"analysis":[254],"of\r\nFMRP":[259],"Pearson":[267],"correlation.\r\nResult:":[268],"We":[269,303,317],"report":[270],"significant":[272,296],"roots\r\nand":[279],"female":[283],"carriers":[284],"(r=0.64,\r\np=0.015)":[291],"no":[295],"could":[298],"established\r\n(r=0.31,":[300],"p=":[301],"0.281).":[302],"also":[304,318],"reported":[305],"blood":[310],"smear":[311],"was\r\nrelatively":[312],"higher":[313],"demonstrated":[319],"our":[321,350],"group":[323,352],"IQ\r\nequivalents":[325],"about":[327],"14":[328],"%":[329,334],"normal":[331],"range,":[332],"7":[333],"borderline":[337],"range":[338],"79":[340],"%\r\nin":[341],"impairment":[344],"range.\r\nConclusion:":[345],"Although":[346],"size":[348],"limited":[354],"results":[356],"suggest":[357],"that\r\nFMRP":[358],"cell":[361],"stronger":[366],"in\r\nbloodsmears.\r\nKeywords:":[379],"syndrome,":[382],"mutation,":[385]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2016-06-24T00:00:00"}