{"id":"https://openalex.org/W2736179406","doi":"https://doi.org/10.1101/gad.302893.117","title":"Congenital myotonic dystrophy\u2014an RNA-mediated disease across a developmental continuum","display_name":"Congenital myotonic dystrophy\u2014an RNA-mediated disease across a developmental continuum","publication_year":2017,"publication_date":"2017-06-01","ids":{"openalex":"https://openalex.org/W2736179406","doi":"https://doi.org/10.1101/gad.302893.117","mag":"2736179406","pmid":"https://pubmed.ncbi.nlm.nih.gov/28717044","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/5538429"},"language":"en","primary_location":{"id":"doi:10.1101/gad.302893.117","doi":"https://doi.org/10.1101/gad.302893.117","is_oa":true,"landing_page_url":"https://doi.org/10.1101/gad.302893.117","pdf_url":"http://genesdev.cshlp.org/content/31/11/1067.full.pdf","source":{"id":"https://openalex.org/S168778273","display_name":"Genes & Development","issn_l":"0890-9369","issn":["0890-9369","1549-5477"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315909","host_organization_name":"Cold Spring Harbor Laboratory Press","host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes &amp; Development","raw_type":"journal-article"},"volume":null,"type":"preprint","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"http://genesdev.cshlp.org/content/31/11/1067.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5045036691","display_name":"Sujatha Jagannathan","orcid":"https://orcid.org/0000-0001-9039-2631","observed_orcids":["https://orcid.org/0000-0001-9039-2631","https://orcid.org/0000-0001-6771-3556"]},"institutions":[{"id":"https://openalex.org/I4210089486","display_name":"Fred Hutch Cancer Center","ror":"https://ror.org/007ps6h72","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210089486"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sujatha Jagannathan","raw_affiliation_strings":["Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","Human Biology Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","1Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","2Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","3Human Biology Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","institution_ids":["https://openalex.org/I4210089486"]},{"raw_affiliation_string":"Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","institution_ids":["https://openalex.org/I4210089486"]},{"raw_affiliation_string":"Human Biology Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","institution_ids":["https://openalex.org/I4210089486"]},{"raw_affiliation_string":"1Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","institution_ids":["https://openalex.org/I4210089486"]},{"raw_affiliation_string":"2Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","institution_ids":["https://openalex.org/I4210089486"]},{"raw_affiliation_string":"3Human Biology Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","institution_ids":["https://openalex.org/I4210089486"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5032741707","display_name":"Robert K. Bradley","orcid":"https://orcid.org/0000-0002-8046-1063","observed_orcids":["https://orcid.org/0000-0002-8046-1063"]},"institutions":[{"id":"https://openalex.org/I4210089486","display_name":"Fred Hutch Cancer Center","ror":"https://ror.org/007ps6h72","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210089486"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robert K. Bradley","raw_affiliation_strings":["Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","1Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","2Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","institution_ids":["https://openalex.org/I4210089486"]},{"raw_affiliation_string":"Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","institution_ids":["https://openalex.org/I4210089486"]},{"raw_affiliation_string":"1Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","institution_ids":["https://openalex.org/I4210089486"]},{"raw_affiliation_string":"2Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA","institution_ids":["https://openalex.org/I4210089486"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4210089486"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"31","issue":"11","first_page":"1067","last_page":"1068"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10604","display_name":"RNA Research and Splicing","score":0.5659000277519226,"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/T10604","display_name":"RNA Research and Splicing","score":0.5659000277519226,"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.4000999927520752,"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.007799999788403511,"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/congenital-myotonic-dystrophy","display_name":"congenital myotonic dystrophy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/alternative-splicing","display_name":"alternative splicing","score":0.9419999718666077},{"id":"https://openalex.org/keywords/polyadenylation","display_name":"polyadenylation","score":0.9850000143051147},{"id":"https://openalex.org/keywords/post-transcriptional-regulation","display_name":"post-transcriptional regulation","score":0.8740000128746033},{"id":"https://openalex.org/keywords/fetal-muscle-development","display_name":"fetal muscle development","score":0.9020000100135803},{"id":"https://openalex.org/keywords/muscleblind-like-proteins","display_name":"muscleblind-like proteins","score":0.9039999842643738},{"id":"https://openalex.org/keywords/mouse-model","display_name":"mouse model","score":0.6489999890327454},{"id":"https://openalex.org/keywords/developmental-continuum","display_name":"developmental continuum","score":0.36500000953674316}],"concepts":[{"id":"https://openalex.org/C2778063965","wikidata":"https://www.wikidata.org/wiki/Q1860507","display_name":"Myotonic dystrophy","level":2,"score":0.9521628618240356},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8799448013305664},{"id":"https://openalex.org/C142575336","wikidata":"https://www.wikidata.org/wiki/Q412148","display_name":"Polyadenylation","level":4,"score":0.762897253036499},{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.5631780624389648},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.5564296841621399},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4815542995929718},{"id":"https://openalex.org/C41282012","wikidata":"https://www.wikidata.org/wiki/Q3928341","display_name":"RNA-binding protein","level":4,"score":0.4406645894050598},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.4360000193119049},{"id":"https://openalex.org/C2780304057","wikidata":"https://www.wikidata.org/wiki/Q1277793","display_name":"Myotonia","level":3,"score":0.43261367082595825},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.35559701919555664},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.34734034538269043},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.34587085247039795},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3377044200897217},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1939479410648346},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.1442829966545105}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009223","descriptor_name":"Myotonic Dystrophy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012313","descriptor_name":"RNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016601","descriptor_name":"RNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017398","descriptor_name":"Alternative Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1101/gad.302893.117","doi":"https://doi.org/10.1101/gad.302893.117","is_oa":true,"landing_page_url":"https://doi.org/10.1101/gad.302893.117","pdf_url":"http://genesdev.cshlp.org/content/31/11/1067.full.pdf","source":{"id":"https://openalex.org/S168778273","display_name":"Genes & Development","issn_l":"0890-9369","issn":["0890-9369","1549-5477"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315909","host_organization_name":"Cold Spring Harbor Laboratory Press","host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes &amp; Development","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:5538429","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5538429","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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes Dev","raw_type":"Text"},{"id":"pmid:28717044","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28717044","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":"Genes & development","raw_type":"Journal Article"},{"id":"pmh:oai:open-archive.highwire.org:genesdev:31/11/1067","doi":null,"is_oa":false,"landing_page_url":"http://genesdev.cshlp.org/cgi/content/short/31/11/1067","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"TEXT"}],"best_oa_location":{"id":"doi:10.1101/gad.302893.117","doi":"https://doi.org/10.1101/gad.302893.117","is_oa":true,"landing_page_url":"https://doi.org/10.1101/gad.302893.117","pdf_url":"http://genesdev.cshlp.org/content/31/11/1067.full.pdf","source":{"id":"https://openalex.org/S168778273","display_name":"Genes & Development","issn_l":"0890-9369","issn":["0890-9369","1549-5477"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315909","host_organization_name":"Cold Spring Harbor Laboratory Press","host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genes &amp; Development","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.5683000087738037,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1198508444","display_name":null,"funder_award_id":"FSHS-22014-01","funder_id":"https://openalex.org/F4320311569","funder_display_name":"FSH Society"},{"id":"https://openalex.org/G3229767079","display_name":null,"funder_award_id":"AG-NS-1030-13","funder_id":"https://openalex.org/F4320306135","funder_display_name":"Ellison Medical Foundation"},{"id":"https://openalex.org/G5281907272","display_name":"The pathogenesis of facioscapulohumeral muscular dystrophy","funder_award_id":"P01NS069539","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"}],"funders":[{"id":"https://openalex.org/F4320306135","display_name":"Ellison Medical Foundation","ror":"https://ror.org/01pqy3846"},{"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/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2736179406.pdf","grobid_xml":"https://content.openalex.org/works/W2736179406.grobid-xml"},"referenced_works_count":11,"referenced_works":["https://openalex.org/W1541231661","https://openalex.org/W2013963839","https://openalex.org/W2025855695","https://openalex.org/W2081280332","https://openalex.org/W2110459103","https://openalex.org/W2140074138","https://openalex.org/W2171373304","https://openalex.org/W2197459998","https://openalex.org/W2410306399","https://openalex.org/W2524253406","https://openalex.org/W2736264339"],"related_works":["https://openalex.org/W2736264339","https://openalex.org/W7018805144","https://openalex.org/W4304758230","https://openalex.org/W4304182697","https://openalex.org/W3088174753","https://openalex.org/W2906750527","https://openalex.org/W2111730089","https://openalex.org/W4240061666","https://openalex.org/W2556077969","https://openalex.org/W2134754044"],"abstract_inverted_index":{"Thomas":[0],"and":[1,13,40],"colleagues":[2],"(pp.":[3],"1122-1133)":[4],"demonstrate":[5],"severe":[6],"dysregulation":[7],"of":[8,28,45],"developmentally":[9],"regulated":[10],"alternative":[11],"splicing":[12],"polyadenylation":[14],"in":[15],"congenital":[16],"myotonic":[17],"dystrophy":[18],"(CDM).":[19],"In":[20],"doing":[21],"so,":[22],"they":[23,38],"also":[24],"highlight":[25],"the":[26],"importance":[27],"these":[29],"post-transcriptional":[30],"processes":[31],"during":[32],"normal":[33],"fetal":[34],"muscle":[35],"development.":[36],"Finally,":[37],"generate":[39],"characterize":[41],"a":[42],"mouse":[43],"model":[44],"CDM":[46],"that":[47],"lacks":[48],"all":[49],"three":[50],"Muscleblind-like":[51],"proteins.":[52]},"counts_by_year":[{"year":2021,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2017-07-21T00:00:00"}
