{"id":"https://openalex.org/W2009079277","doi":"https://doi.org/10.1006/mgme.2001.3219","title":"Methylation of the FSHD Syndrome-Linked Subtelomeric Repeat in Normal and FSHD Cell Cultures and Tissues","display_name":"Methylation of the FSHD Syndrome-Linked Subtelomeric Repeat in Normal and FSHD Cell Cultures and Tissues","publication_year":2001,"publication_date":"2001-11-01","ids":{"openalex":"https://openalex.org/W2009079277","doi":"https://doi.org/10.1006/mgme.2001.3219","mag":"2009079277","pmid":"https://pubmed.ncbi.nlm.nih.gov/11708861"},"language":"en","primary_location":{"id":"doi:10.1006/mgme.2001.3219","doi":"https://doi.org/10.1006/mgme.2001.3219","is_oa":false,"landing_page_url":"https://doi.org/10.1006/mgme.2001.3219","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"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/A5056187977","display_name":"Fern Tsien","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I114832834","display_name":"Tulane University","ror":"https://ror.org/04vmvtb21","country_code":"US","type":"education","lineage":["https://openalex.org/I114832834"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Fern Tsien","raw_affiliation_strings":["Human Genetics Program, School of Medicine, Tulane University, 1430 Tulane Avenue, New Orleans, LA 70112, USA","Department of Pediatrics, Tulane Medical School, New Orleans, Louisiana, 70112"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics Program, School of Medicine, Tulane University, 1430 Tulane Avenue, New Orleans, LA 70112, USA","institution_ids":["https://openalex.org/I114832834"]},{"raw_affiliation_string":"Department of Pediatrics, Tulane Medical School, New Orleans, Louisiana, 70112","institution_ids":["https://openalex.org/I114832834"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087230640","display_name":"Baodong Sun","orcid":"https://orcid.org/0000-0002-2191-0025","observed_orcids":["https://orcid.org/0000-0002-2191-0025"]},"institutions":[{"id":"https://openalex.org/I114832834","display_name":"Tulane University","ror":"https://ror.org/04vmvtb21","country_code":"US","type":"education","lineage":["https://openalex.org/I114832834"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Baodong Sun","raw_affiliation_strings":["Department of Pediatrics, Tulane Medical School, New Orleans, Louisiana, 70112"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Tulane Medical School, New Orleans, Louisiana, 70112","institution_ids":["https://openalex.org/I114832834"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111935151","display_name":"Nancy Eddy Hopkins","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I114832834","display_name":"Tulane University","ror":"https://ror.org/04vmvtb21","country_code":"US","type":"education","lineage":["https://openalex.org/I114832834"]},{"id":"https://openalex.org/I2800269015","display_name":"Tulane Medical Center","ror":"https://ror.org/031w3f751","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2800269015"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nancy Eddy Hopkins","raw_affiliation_strings":["Department of Biochemistry, Tulane Medical School, New Orleans, Louisiana, 70112","Department of Pediatrics, Tulane Medical School, New Orleans, Louisiana, 70112"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, Tulane Medical School, New Orleans, Louisiana, 70112","institution_ids":["https://openalex.org/I114832834","https://openalex.org/I2800269015"]},{"raw_affiliation_string":"Department of Pediatrics, Tulane Medical School, New Orleans, Louisiana, 70112","institution_ids":["https://openalex.org/I114832834"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025351980","display_name":"Vettaikorumakankav Vedanarayanan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I29606459","display_name":"University of Mississippi Medical Center","ror":"https://ror.org/044pcn091","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I29606459","https://openalex.org/I4210141039"]},{"id":"https://openalex.org/I368840534","display_name":"University of Mississippi","ror":"https://ror.org/02teq1165","country_code":"US","type":"education","lineage":["https://openalex.org/I368840534","https://openalex.org/I4210141039"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Vettaikorumakankav Vedanarayanan","raw_affiliation_strings":["Department of Neurology, University of Mississippi Medical School, Jackson, Mississippi, 39216"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Mississippi Medical School, Jackson, Mississippi, 39216","institution_ids":["https://openalex.org/I29606459","https://openalex.org/I368840534"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070811084","display_name":"Denise A. Figlewicz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Denise Figlewicz","raw_affiliation_strings":["Department of Neurology, University of Rochester Medical Center, Rochester, New York, 14642"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Rochester Medical Center, Rochester, New York, 14642","institution_ids":["https://openalex.org/I28792581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110132363","display_name":"Sara T. Winokur","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204250578","display_name":"University of California, Irvine","ror":"https://ror.org/04gyf1771","country_code":"US","type":"education","lineage":["https://openalex.org/I204250578"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sara Winokur","raw_affiliation_strings":["Department of Biological Chemistry, University of California, Irvine, California, 92697"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Chemistry, University of California, Irvine, California, 92697","institution_ids":["https://openalex.org/I204250578"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5041376137","display_name":"Melanie Ehrlich","orcid":"https://orcid.org/0000-0002-8187-4476","observed_orcids":["https://orcid.org/0000-0002-8187-4476"]},"institutions":[{"id":"https://openalex.org/I114832834","display_name":"Tulane University","ror":"https://ror.org/04vmvtb21","country_code":"US","type":"education","lineage":["https://openalex.org/I114832834"]},{"id":"https://openalex.org/I2800269015","display_name":"Tulane Medical Center","ror":"https://ror.org/031w3f751","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2800269015"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Melanie Ehrlich","raw_affiliation_strings":["Department of Biochemistry, Tulane Medical School, New Orleans, Louisiana, 70112","Department of Pediatrics, Tulane Medical School, New Orleans, Louisiana, 70112"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, Tulane Medical School, New Orleans, Louisiana, 70112","institution_ids":["https://openalex.org/I114832834","https://openalex.org/I2800269015"]},{"raw_affiliation_string":"Department of Pediatrics, Tulane Medical School, New Orleans, Louisiana, 70112","institution_ids":["https://openalex.org/I114832834"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5041376137"],"corresponding_institution_ids":["https://openalex.org/I114832834","https://openalex.org/I2800269015"],"apc_list":{"value":3680,"currency":"USD","value_usd":3680},"apc_paid":null,"fwci":0.7694,"has_fulltext":false,"cited_by_count":44,"citation_normalized_percentile":{"value":0.65583654,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"74","issue":"3","first_page":"322","last_page":"331"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10269","display_name":"Epigenetics and DNA Methylation","score":0.5019999742507935,"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/T10269","display_name":"Epigenetics and DNA Methylation","score":0.5019999742507935,"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/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.13539999723434448,"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.12929999828338623,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/facioscapulohumeral-muscular-dystrophy","display_name":"facioscapulohumeral muscular dystrophy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/d4z4-repeat","display_name":"D4Z4 repeat","score":0.9039999842643738},{"id":"https://openalex.org/keywords/subtelomeric-repeats","display_name":"subtelomeric repeats","score":0.7289999723434448},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.9919999837875366},{"id":"https://openalex.org/keywords/heterochromatinization","display_name":"heterochromatinization","score":0.8579999804496765},{"id":"https://openalex.org/keywords/chromosome-4q35","display_name":"chromosome 4q35","score":0.9100000262260437},{"id":"https://openalex.org/keywords/position-effect","display_name":"position effect","score":0.6069999933242798},{"id":"https://openalex.org/keywords/cpg-methylation","display_name":"CpG methylation","score":0.7540000081062317},{"id":"https://openalex.org/keywords/skeletal-muscle","display_name":"skeletal muscle","score":0.765999972820282},{"id":"https://openalex.org/keywords/somatic-tissues","display_name":"somatic tissues","score":0.5680000185966492},{"id":"https://openalex.org/keywords/repeat-copy-number","display_name":"repeat copy number","score":0.546999990940094}],"concepts":[{"id":"https://openalex.org/C23069440","wikidata":"https://www.wikidata.org/wiki/Q7632192","display_name":"Subtelomere","level":4,"score":0.8859059810638428},{"id":"https://openalex.org/C2779981540","wikidata":"https://www.wikidata.org/wiki/Q1399182","display_name":"Facioscapulohumeral muscular dystrophy","level":3,"score":0.863088846206665},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7221813797950745},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7135840654373169},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.617158055305481},{"id":"https://openalex.org/C103435993","wikidata":"https://www.wikidata.org/wiki/Q837783","display_name":"Heterochromatin","level":4,"score":0.6038291454315186},{"id":"https://openalex.org/C27149982","wikidata":"https://www.wikidata.org/wiki/Q3456514","display_name":"Tandem repeat","level":4,"score":0.44425323605537415},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.36880213022232056},{"id":"https://openalex.org/C83640560","wikidata":"https://www.wikidata.org/wiki/Q180951","display_name":"Chromatin","level":3,"score":0.3617302179336548},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.2557406425476074},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.2474970519542694},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.22894829511642456},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.21350830793380737},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.07281330227851868}],"mesh":[{"descriptor_ui":"D001426","descriptor_name":"Bacterial Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001665","descriptor_name":"Binding Sites","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002894","descriptor_name":"Chromosomes, Human, Pair 4","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015139","descriptor_name":"Blotting, Southern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015252","descriptor_name":"Deoxyribonucleases, Type II Site-Specific","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D016615","descriptor_name":"Telomere","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019175","descriptor_name":"DNA Methylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020080","descriptor_name":"Tandem Repeat Sequences","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020391","descriptor_name":"Muscular Dystrophy, Facioscapulohumeral","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1006/mgme.2001.3219","doi":"https://doi.org/10.1006/mgme.2001.3219","is_oa":false,"landing_page_url":"https://doi.org/10.1006/mgme.2001.3219","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},{"id":"pmid:11708861","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11708861","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":"Molecular genetics and metabolism","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G8575124588","display_name":"DNA HYPOMETHYLATION AND CANCER","funder_award_id":"R01CA081506","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"}],"funders":[{"id":"https://openalex.org/F4320311569","display_name":"FSH Society","ror":"https://ror.org/03tqsvs90"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":33,"referenced_works":["https://openalex.org/W585871592","https://openalex.org/W1486257535","https://openalex.org/W1541050437","https://openalex.org/W1568175218","https://openalex.org/W1652583010","https://openalex.org/W1991105138","https://openalex.org/W1994734776","https://openalex.org/W1998517881","https://openalex.org/W2002551825","https://openalex.org/W2005286540","https://openalex.org/W2006604860","https://openalex.org/W2011347485","https://openalex.org/W2016109355","https://openalex.org/W2025030196","https://openalex.org/W2026109158","https://openalex.org/W2035288775","https://openalex.org/W2036185416","https://openalex.org/W2040280300","https://openalex.org/W2042334757","https://openalex.org/W2044057928","https://openalex.org/W2052377404","https://openalex.org/W2057029746","https://openalex.org/W2081220274","https://openalex.org/W2085638799","https://openalex.org/W2096878022","https://openalex.org/W2118562875","https://openalex.org/W2124412871","https://openalex.org/W2126522307","https://openalex.org/W2129901857","https://openalex.org/W2150199853","https://openalex.org/W2157175313","https://openalex.org/W2165880713","https://openalex.org/W2409846862"],"related_works":["https://openalex.org/W7095843464","https://openalex.org/W2026431435","https://openalex.org/W1971966710","https://openalex.org/W2075704285","https://openalex.org/W7099041472","https://openalex.org/W2076732839","https://openalex.org/W3009929702","https://openalex.org/W2043076320","https://openalex.org/W4243603057","https://openalex.org/W2116284747"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":3},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":6}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}