{"id":"https://openalex.org/W2167813635","doi":null,"title":"Dysferlin Expression in Skeletal muscles of Patients with Myopathy and Cultured Human Myoblast/Myotube","display_name":"Dysferlin Expression in Skeletal muscles of Patients with Myopathy and Cultured Human Myoblast/Myotube","publication_year":2007,"publication_date":"2007-01-01","ids":{"openalex":"https://openalex.org/W2167813635","mag":"2167813635"},"language":"en","primary_location":{"id":"pmh:oai:CiteSeerX.psu:10.1.1.596.2604","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.596.2604","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://bbs.neuro.or.kr/space/journal/2007/200704011.pdf","raw_type":"text"},"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/A5064985244","display_name":"Eung Young Lee","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eung Young Lee","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5033550557","display_name":"Young\u2010Chul Choi","orcid":"https://orcid.org/0000-0001-5525-6861","observed_orcids":["https://orcid.org/0000-0001-5525-6861"]},"institutions":[{"id":"https://openalex.org/I2799970807","display_name":"Severance Hospital","ror":"https://ror.org/044kjp413","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I193775966","https://openalex.org/I2799970807","https://openalex.org/I4210160791"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Young\u2010Chul Choi","raw_affiliation_strings":["Severance Hospital"],"raw_orcid":"https://orcid.org/0000-0001-5525-6861","affiliations":[{"raw_affiliation_string":"Severance Hospital","institution_ids":["https://openalex.org/I2799970807"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"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":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"25","issue":"4","first_page":"521","last_page":"529"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9990000128746033,"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":0.9990000128746033,"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/T11724","display_name":"Inflammatory Myopathies and Dermatomyositis","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/dysferlin","display_name":"dysferlin","score":1.0},{"id":"https://openalex.org/keywords/dysferlinopathy","display_name":"dysferlinopathy","score":0.9440000057220459},{"id":"https://openalex.org/keywords/limb-girdle-muscular-dystrophy-2b","display_name":"limb-girdle muscular dystrophy 2B","score":0.925000011920929},{"id":"https://openalex.org/keywords/miyoshi-myopathy","display_name":"Miyoshi myopathy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/duchenne-muscular-dystrophy","display_name":"Duchenne muscular dystrophy","score":0.9599999785423279},{"id":"https://openalex.org/keywords/dermatomyositis","display_name":"dermatomyositis","score":0.9959999918937683},{"id":"https://openalex.org/keywords/polymyositis","display_name":"polymyositis","score":1.0},{"id":"https://openalex.org/keywords/skeletal-muscle","display_name":"skeletal muscle","score":0.5709999799728394},{"id":"https://openalex.org/keywords/muscle-regeneration","display_name":"muscle regeneration","score":0.7020000219345093},{"id":"https://openalex.org/keywords/muscle-repair","display_name":"muscle repair","score":0.6980000138282776},{"id":"https://openalex.org/keywords/myogenesis","display_name":"myogenesis","score":0.7870000004768372},{"id":"https://openalex.org/keywords/myotubes","display_name":"myotubes","score":0.9440000057220459},{"id":"https://openalex.org/keywords/n-cam","display_name":"N-CAM","score":0.9120000004768372},{"id":"https://openalex.org/keywords/sarcolemma","display_name":"sarcolemma","score":0.9300000071525574}],"concepts":[{"id":"https://openalex.org/C37113945","wikidata":"https://www.wikidata.org/wiki/Q14885337","display_name":"Dysferlin","level":3,"score":0.9861021637916565},{"id":"https://openalex.org/C199096232","wikidata":"https://www.wikidata.org/wiki/Q1545001","display_name":"Sarcolemma","level":3,"score":0.6960575580596924},{"id":"https://openalex.org/C2779959927","wikidata":"https://www.wikidata.org/wiki/Q1048687","display_name":"Skeletal muscle","level":2,"score":0.687505841255188},{"id":"https://openalex.org/C207200792","wikidata":"https://www.wikidata.org/wiki/Q428914","display_name":"Myocyte","level":2,"score":0.670207679271698},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.6562530994415283},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.6428582072257996},{"id":"https://openalex.org/C2778649560","wikidata":"https://www.wikidata.org/wiki/Q1531322","display_name":"Limb-girdle muscular dystrophy","level":4,"score":0.5764539241790771},{"id":"https://openalex.org/C2776415932","wikidata":"https://www.wikidata.org/wiki/Q48743","display_name":"Western blot","level":3,"score":0.5225369930267334},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4741460680961609},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.46415504813194275},{"id":"https://openalex.org/C2779072444","wikidata":"https://www.wikidata.org/wiki/Q425146","display_name":"Desmin","level":4,"score":0.44220244884490967},{"id":"https://openalex.org/C3763915","wikidata":"https://www.wikidata.org/wiki/Q3331437","display_name":"Myogenesis","level":3,"score":0.4383176863193512},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3597372770309448},{"id":"https://openalex.org/C204232928","wikidata":"https://www.wikidata.org/wiki/Q899285","display_name":"Immunohistochemistry","level":2,"score":0.3395441770553589},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.271581768989563},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.13641566038131714},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09863725304603577},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.0833912193775177},{"id":"https://openalex.org/C147447768","wikidata":"https://www.wikidata.org/wiki/Q411624","display_name":"Vimentin","level":3,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:CiteSeerX.psu:10.1.1.596.2604","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.596.2604","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://bbs.neuro.or.kr/space/journal/2007/200704011.pdf","raw_type":"text"},{"id":"mag:2167813635","doi":null,"is_oa":false,"landing_page_url":"https://www.kci.go.kr/kciportal/ci/sereArticleSearch/ciSereArtiView.kci?sereArticleSearchBean.artiId=ART001088277","pdf_url":null,"source":{"id":"https://openalex.org/S2764848346","display_name":"Journal of the Korean Neurological Association","issn_l":"1225-7044","issn":["1225-7044","2288-985X"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["kci-registered"],"host_organization":"https://openalex.org/P4324031397","host_organization_name":"Korean Neurological Association","host_organization_lineage":["https://openalex.org/P4324031397"],"host_organization_lineage_names":["Korean Neurological Association"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Journal of the Korean Neurological Association","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":34,"referenced_works":["https://openalex.org/W153720984","https://openalex.org/W1551910894","https://openalex.org/W1772894161","https://openalex.org/W1972214019","https://openalex.org/W1973013529","https://openalex.org/W1977421049","https://openalex.org/W1982268478","https://openalex.org/W1983351039","https://openalex.org/W1988444034","https://openalex.org/W1988551020","https://openalex.org/W2004484191","https://openalex.org/W2013898345","https://openalex.org/W2024906556","https://openalex.org/W2031223556","https://openalex.org/W2043172254","https://openalex.org/W2045584862","https://openalex.org/W2047015778","https://openalex.org/W2047136624","https://openalex.org/W2052613122","https://openalex.org/W2058140775","https://openalex.org/W2085639974","https://openalex.org/W2096505898","https://openalex.org/W2106862730","https://openalex.org/W2122524549","https://openalex.org/W2122649641","https://openalex.org/W2123355036","https://openalex.org/W2134532153","https://openalex.org/W2137461061","https://openalex.org/W2138031831","https://openalex.org/W2139367964","https://openalex.org/W2159164732","https://openalex.org/W2161336300","https://openalex.org/W2167398363","https://openalex.org/W2168028295"],"related_works":["https://openalex.org/W7035586753","https://openalex.org/W153720984","https://openalex.org/W4407407281","https://openalex.org/W2038435397","https://openalex.org/W1600755780","https://openalex.org/W2137461061","https://openalex.org/W2139367964","https://openalex.org/W2006322056","https://openalex.org/W2043172254","https://openalex.org/W2039847498"],"abstract_inverted_index":{"Background:":[0],"Dysferlin":[1,36],"is":[2,13,27,37],"a":[3],"230":[4],"kDa":[5],"protein":[6],"of":[7,69,82,137,148,157,176,193],"the":[8,53,70,135,173],"sarcolemma.":[9],"This":[10],"encoding":[11],"gene":[12,54],"mutated":[14],"in":[15,44,60,65,86,153,180,189,195,203],"patients":[16,71,93,97,104,109],"with":[17,72,94,98,105,110,116,164],"dysferlinopathy":[18,117],"(limb-girdle":[19],"muscular":[20,100],"dystrophy":[21,101],"2B":[22],"and":[23,33,47,63,74,84,113,119,142,207],"Miyoshi":[24],"myopathy),":[25],"which":[26,161],"characterized":[28],"byan":[29],"active":[30],"muscle":[31,45,48,61,68,88,129,155],"degeneration":[32],"regeneration":[34],"process.":[35],"known":[38],"to":[39,55,183,201],"play":[40],"an":[41],"essential":[42],"role":[43,59],"signaling":[46],"fiber":[49],"repair.":[50],"We":[51],"studied":[52],"define":[56],"its":[57],"functional":[58],"repair":[62],"differentiation":[64],"human":[66,76,124],"skeletal":[67],"myopathies":[73,95,158,181],"cultured":[75],"myoblast.":[77],"Methods:":[78],"An":[79],"immunohistochemical":[80],"analysis":[81],"dysferlin":[83,138,149,177,194],"N-CAM":[85,165],"biopsied":[87],"tissue":[89,130],"obtained":[90,126],"from":[91,127],"eleven":[92],"[six":[96],"Duchenne":[99],"(DMD),":[102],"two":[103,108],"dermatomyositis":[106],"(DM),":[107],"polymyositis":[111],"(PM),":[112],"one":[114],"patient":[115],"(MM)]":[118],"eight":[120],"normal":[121,128,184],"controls.":[122],"Cultured":[123],"myoblast":[125,204],"was":[131,150,162,178,197],"also":[132],"analyzed":[133],"by":[134,166,205],"expression":[136,174,188,192],"through":[139],"immunocytochemical":[140],"staining":[141],"western":[143,170,208],"blot.":[144],"Results:":[145],"The":[146,191],"immunoreactivity":[147],"strongly":[151],"expressed":[152],"regenerative":[154],"fibers":[156],"except":[159],"dysferlinpathy,":[160],"co-localization":[163],"double":[167],"immunohistochemistry.":[168],"By":[169],"blot":[171,209],"analysis,":[172],"level":[175],"variable":[179],"compared":[182,200],"controls,":[185],"but":[186],"no":[187],"dyferlinopathy.":[190],"myotubes":[196],"significantly":[198],"increased":[199],"that":[202],"immunostaining":[206],"analysis.":[210]},"counts_by_year":[],"updated_date":"2026-10-01T08:54:57.152042","created_date":"2016-06-24T00:00:00"}