{"id":"https://openalex.org/W181088544","doi":null,"title":"Testing the effects of FSHD candidate gene expression in vertebrate muscle development.","display_name":"Testing the effects of FSHD candidate gene expression in vertebrate muscle development.","publication_year":2010,"publication_date":"2010-03-28","ids":{"openalex":"https://openalex.org/W181088544","mag":"181088544","pmid":"https://pubmed.ncbi.nlm.nih.gov/20490329","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2872745"},"language":"en","primary_location":{"id":"pmh:oai:pubmedcentral.nih.gov:2872745","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2872745","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Int J Clin Exp Pathol","raw_type":"Text"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2872745","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5029197305","display_name":"Ryan D. Wuebbles","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I157725225","display_name":"University of Illinois Urbana-Champaign","ror":"https://ror.org/047426m28","country_code":"US","type":"education","lineage":["https://openalex.org/I157725225"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ryan D Wuebbles","raw_affiliation_strings":["Department of Cell and Developmental Biology, University of Illinois at Urbana-Champaign, B107 Chemical and Life Sciences Laboratory, Urbana, IL 61801, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell and Developmental Biology, University of Illinois at Urbana-Champaign, B107 Chemical and Life Sciences Laboratory, Urbana, IL 61801, USA","institution_ids":["https://openalex.org/I157725225"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039251588","display_name":"Steven W. Long","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Steven W Long","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064830289","display_name":"Meredith L. Hanel","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Meredith L Hanel","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5022452806","display_name":"Peter L. Jones","orcid":"https://orcid.org/0000-0003-4283-1016","observed_orcids":["https://orcid.org/0000-0003-4283-1016"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Peter L Jones","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":3.5044,"has_fulltext":false,"cited_by_count":80,"citation_normalized_percentile":{"value":0.93990566,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"3","issue":"4","first_page":"386","last_page":"400"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9980000257492065,"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.9980000257492065,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.00019999999494757503,"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/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/facioscapulohumeral-muscular-dystrophy","display_name":"facioscapulohumeral muscular dystrophy","score":1.0},{"id":"https://openalex.org/keywords/dux4","display_name":"DUX4","score":0.9079999923706055},{"id":"https://openalex.org/keywords/dux4c","display_name":"DUX4c","score":0.9890000224113464},{"id":"https://openalex.org/keywords/pitx1","display_name":"PITX1","score":0.9950000047683716},{"id":"https://openalex.org/keywords/frg1","display_name":"FRG1","score":0.9620000123977661},{"id":"https://openalex.org/keywords/epigenetic-dysregulation","display_name":"epigenetic dysregulation","score":0.8360000252723694},{"id":"https://openalex.org/keywords/skeletal-muscle-development","display_name":"skeletal muscle development","score":0.8240000009536743},{"id":"https://openalex.org/keywords/xenopus-laevis","display_name":"Xenopus laevis","score":0.8029999732971191},{"id":"https://openalex.org/keywords/angiogenesis","display_name":"angiogenesis","score":0.6269999742507935},{"id":"https://openalex.org/keywords/apoptosis","display_name":"apoptosis","score":0.6439999938011169},{"id":"https://openalex.org/keywords/gene-overexpression","display_name":"gene overexpression","score":0.6439999938011169}],"concepts":[{"id":"https://openalex.org/C2779981540","wikidata":"https://www.wikidata.org/wiki/Q1399182","display_name":"Facioscapulohumeral muscular dystrophy","level":3,"score":0.9474109411239624},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7289262413978577},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.6533476710319519},{"id":"https://openalex.org/C41091548","wikidata":"https://www.wikidata.org/wiki/Q26939","display_name":"Epigenetics","level":3,"score":0.6114839315414429},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5299801826477051},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4852883517742157},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.47319862246513367},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.437367707490921},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.42215728759765625},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.36401110887527466}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002454","descriptor_name":"Cell Differentiation","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":"D007150","descriptor_name":"Immunohistochemistry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009132","descriptor_name":"Muscles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014982","descriptor_name":"Xenopus laevis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015870","descriptor_name":"Gene Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017209","descriptor_name":"Apoptosis","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D017403","descriptor_name":"In Situ Hybridization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018398","descriptor_name":"Homeodomain Proteins","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D018398","descriptor_name":"Homeodomain Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":true},{"descriptor_ui":"D020133","descriptor_name":"Reverse Transcriptase Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020287","descriptor_name":"In Situ Nick-End Labeling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020391","descriptor_name":"Muscular Dystrophy, Facioscapulohumeral","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020391","descriptor_name":"Muscular Dystrophy, Facioscapulohumeral","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D024510","descriptor_name":"Muscle Development","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D029867","descriptor_name":"Xenopus Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D029867","descriptor_name":"Xenopus Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051761","descriptor_name":"Paired Box Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051761","descriptor_name":"Paired Box Transcription Factors","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":3,"locations":[{"id":"pmh:oai:pubmedcentral.nih.gov:2872745","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2872745","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Int J Clin Exp Pathol","raw_type":"Text"},{"id":"pmid:20490329","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20490329","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":"International journal of clinical and experimental pathology","raw_type":"Journal Article"},{"id":"mag:181088544","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20490329","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":{"id":"pmh:oai:pubmedcentral.nih.gov:2872745","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2872745","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Int J Clin Exp Pathol","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[],"awards":[{"id":"https://openalex.org/G4657254517","display_name":"Molecular mechanism of FSHD pathology","funder_award_id":"R01AR055877","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"}],"funders":[{"id":"https://openalex.org/F4320337362","display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","ror":"https://ror.org/006zn3t30"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":54,"referenced_works":["https://openalex.org/W84773616","https://openalex.org/W1518787232","https://openalex.org/W1872961786","https://openalex.org/W1964930281","https://openalex.org/W1966031828","https://openalex.org/W1966805460","https://openalex.org/W1979858621","https://openalex.org/W1980570299","https://openalex.org/W1981462762","https://openalex.org/W1985659366","https://openalex.org/W1987030748","https://openalex.org/W1999172217","https://openalex.org/W2004602258","https://openalex.org/W2005286540","https://openalex.org/W2013560484","https://openalex.org/W2014704761","https://openalex.org/W2017826157","https://openalex.org/W2037293161","https://openalex.org/W2041901744","https://openalex.org/W2042190289","https://openalex.org/W2047090435","https://openalex.org/W2048408742","https://openalex.org/W2058272881","https://openalex.org/W2066908868","https://openalex.org/W2069312900","https://openalex.org/W2076732839","https://openalex.org/W2079199547","https://openalex.org/W2081944345","https://openalex.org/W2082127114","https://openalex.org/W2083991264","https://openalex.org/W2088043742","https://openalex.org/W2088714421","https://openalex.org/W2089416654","https://openalex.org/W2092426552","https://openalex.org/W2093618454","https://openalex.org/W2094148976","https://openalex.org/W2096878022","https://openalex.org/W2099408708","https://openalex.org/W2103091788","https://openalex.org/W2107329946","https://openalex.org/W2113144753","https://openalex.org/W2116284747","https://openalex.org/W2118562875","https://openalex.org/W2132673351","https://openalex.org/W2151435554","https://openalex.org/W2153811661","https://openalex.org/W2158923719","https://openalex.org/W2163868680","https://openalex.org/W2164565684","https://openalex.org/W2166015861","https://openalex.org/W2167963456","https://openalex.org/W2176996109","https://openalex.org/W2208796000","https://openalex.org/W4231601519"],"related_works":["https://openalex.org/W7133453192","https://openalex.org/W2118447017","https://openalex.org/W2290490862","https://openalex.org/W2582623442","https://openalex.org/W2896342192","https://openalex.org/W2057308075","https://openalex.org/W7151532194","https://openalex.org/W3015374806","https://openalex.org/W1980570299","https://openalex.org/W2041648696"],"abstract_inverted_index":{"The":[0,17],"genetic":[1],"lesion":[2],"leading":[3],"to":[4,93,150,211,234],"facioscapulohumeral":[5],"muscular":[6],"dystrophy":[7],"(FSHD)":[8],"is":[9,209],"a":[10,60,192,235],"dominant":[11],"deletion":[12],"at":[13],"the":[14,27,31,69,74,100,111,126,184,214,221,241],"4q35":[15],"locus.":[16],"generally":[18],"accepted":[19],"disease":[20],"model":[21,61,128,193],"involves":[22],"an":[23,94],"epigenetic":[24],"dysregulation":[25],"in":[26,30,147,171,198,207,225,244],"region":[28,81],"resulting":[29],"upregulation":[32],"of":[33,71,73,88,106,114,136,141,168,186],"one":[34],"or":[35,144],"more":[36],"proximal":[37],"genes":[38,49],"whose":[39],"overexpression":[40,72,112],"specifically":[41,92],"affects":[42,175],"skeletal":[43],"muscle.":[44],"However,":[45],"multiple":[46],"FSHD":[47,75,118,199,208,245],"candidate":[48,76,119],"have":[50],"been":[51],"proposed":[52],"without":[53],"clear":[54],"consensus.":[55],"Using":[56],"Xenopus":[57],"laevis":[58],"as":[59,201],"for":[62,132,194,220],"vertebrate":[63],"development":[64,148],"our":[65],"lab":[66],"has":[67],"studied":[68,110],"effects":[70,113],"gene":[77,82],"ortholog,":[78],"frg1":[79,89,230],"(FSHD":[80],"1),":[83],"showing":[84],"that":[85,237],"increased":[86,98,229],"levels":[87,140,167,180],"systemically":[90],"led":[91,149],"abnormal":[95,156],"musculature":[96],"and":[97,123,130,154,178,196],"angiogenesis,":[99],"two":[101],"most":[102,238],"prominent":[103],"clinical":[104],"features":[105],"FSHD.":[107,226],"Here":[108],"we":[109],"three":[115],"other":[116],"promising":[117],"genes,":[120],"DUX4,":[121],"DUX4c,":[122],"PITX1":[124,197],"using":[125],"same":[127],"system":[129],"methods":[131],"direct":[133],"comparison.":[134],"Expression":[135],"even":[137],"very":[138],"low":[139],"either":[142],"DUX4":[143,195],"pitx1":[145],"early":[146],"massive":[151],"cellular":[152],"loss":[153],"severely":[155],"development.":[157],"These":[158],"abnormalities":[159],"were":[160],"not":[161,182],"muscle":[162,177],"specific.":[163],"In":[164],"contrast,":[165],"elevated":[166],"DUX4c":[169,179],"resulted":[170],"no":[172],"detectable":[173],"adverse":[174],"on":[176],"did":[181],"alter":[183],"expression":[185,206,231],"myogenic":[187,215],"regulators.":[188],"This":[189],"data":[190],"supports":[191],"only":[200],"pro-apoptotic":[202],"factors":[203],"if":[204],"their":[205],"confined":[210],"cells":[212],"within":[213],"pathway;":[216],"neither":[217],"could":[218],"account":[219],"vascular":[222],"pathology":[223],"prevalent":[224],"Taken":[227],"together,":[228],"alone":[232],"leads":[233],"phenotype":[236],"closely":[239],"resembles":[240],"pathophysiology":[242],"observed":[243],"patients.":[246]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":6},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":9},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":6},{"year":2013,"cited_by_count":12},{"year":2012,"cited_by_count":8}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}