{"id":"https://openalex.org/W4412548828","doi":"https://doi.org/10.1038/s10038-025-01372-8","title":"Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle","display_name":"Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle","publication_year":2025,"publication_date":"2025-07-22","ids":{"openalex":"https://openalex.org/W4412548828","doi":"https://doi.org/10.1038/s10038-025-01372-8","pmid":"https://pubmed.ncbi.nlm.nih.gov/40696134","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/12360427"},"language":"en","primary_location":{"id":"doi:10.1038/s10038-025-01372-8","doi":"https://doi.org/10.1038/s10038-025-01372-8","is_oa":false,"landing_page_url":"https://doi.org/10.1038/s10038-025-01372-8","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"review","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12360427","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5061142650","display_name":"Michio Inoue","orcid":"https://orcid.org/0000-0003-2757-3266","observed_orcids":["https://orcid.org/0000-0003-2757-3266"]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Michio Inoue","raw_affiliation_strings":["Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA. michio@wustl.edu","Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA"],"raw_orcid":"https://orcid.org/0000-0003-2757-3266","affiliations":[{"raw_affiliation_string":"Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA. michio@wustl.edu","institution_ids":["https://openalex.org/I204465549"]},{"raw_affiliation_string":"Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA","institution_ids":["https://openalex.org/I204465549"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5061142650"],"corresponding_institution_ids":["https://openalex.org/I204465549"],"apc_list":{"value":5490,"currency":"USD","value_usd":5490},"apc_paid":null,"fwci":0.0818,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.10072858,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":92,"max":95},"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/T10934","display_name":"Heat shock proteins research","score":0.6435999870300293,"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/T10934","display_name":"Heat shock proteins research","score":0.6435999870300293,"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":0.34470000863075256,"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/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.0017000000225380063,"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/hsp40","display_name":"Hsp40","score":0.9850000143051147},{"id":"https://openalex.org/keywords/hsp70-co-chaperone","display_name":"Hsp70 co-chaperone","score":0.7129999995231628},{"id":"https://openalex.org/keywords/chaperonopathies","display_name":"chaperonopathies","score":0.8360000252723694},{"id":"https://openalex.org/keywords/dnajb6","display_name":"DNAJB6","score":0.7369999885559082},{"id":"https://openalex.org/keywords/inherited-muscle-disease","display_name":"hereditary muscle disease","score":0.6729999780654907},{"id":"https://openalex.org/keywords/rimmed-vacuoles","display_name":"rimmed vacuoles","score":0.8130000233650208},{"id":"https://openalex.org/keywords/limb-girdle-weakness","display_name":"limb-girdle weakness","score":0.7770000100135803},{"id":"https://openalex.org/keywords/distal-muscle-weakness","display_name":"distal muscle weakness","score":0.675000011920929},{"id":"https://openalex.org/keywords/respiratory-failure","display_name":"respiratory failure","score":0.8740000128746033},{"id":"https://openalex.org/keywords/gain-of-function-mutations","display_name":"gain-of-function mutations","score":0.7300000190734863},{"id":"https://openalex.org/keywords/dominant-negative","display_name":"dominant negative effect","score":0.8100000023841858},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.8029999732971191},{"id":"https://openalex.org/keywords/gene-replacement-therapy","display_name":"gene replacement therapy","score":0.800000011920929},{"id":"https://openalex.org/keywords/skeletal-muscle","display_name":"skeletal muscle","score":0.7889999747276306}],"concepts":[{"id":"https://openalex.org/C204315192","wikidata":"https://www.wikidata.org/wiki/Q210506","display_name":"Molecular genetics","level":3,"score":0.5468000769615173},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5266090631484985},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5018880367279053},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4893152415752411},{"id":"https://openalex.org/C2779959927","wikidata":"https://www.wikidata.org/wiki/Q1048687","display_name":"Skeletal muscle","level":2,"score":0.4648095369338989},{"id":"https://openalex.org/C36503486","wikidata":"https://www.wikidata.org/wiki/Q11235244","display_name":"Domain (mathematical analysis)","level":2,"score":0.41146230697631836},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.34886521100997925},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2047690749168396},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.12477532029151917},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.0},{"id":"https://openalex.org/C134306372","wikidata":"https://www.wikidata.org/wiki/Q7754","display_name":"Mathematical analysis","level":1,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1038/s10038-025-01372-8","doi":"https://doi.org/10.1038/s10038-025-01372-8","is_oa":false,"landing_page_url":"https://doi.org/10.1038/s10038-025-01372-8","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:40696134","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40696134","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":"Journal of human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:12360427","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12360427","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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"J Hum Genet","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:12360427","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12360427","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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"J Hum Genet","raw_type":"Text"},"sustainable_development_goals":[{"score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2492265861","display_name":null,"funder_award_id":"K99AR084062","funder_id":"https://openalex.org/F4320306085","funder_display_name":"U.S. Department of Health and Human Services"},{"id":"https://openalex.org/G9000859456","display_name":"Elucidating the Role of DNAJ Proteins in Muscle Disease","funder_award_id":"K99AR084062","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"}],"funders":[{"id":"https://openalex.org/F4320306085","display_name":"U.S. Department of Health and Human Services","ror":"https://ror.org/033jnv181"},{"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":40,"referenced_works":["https://openalex.org/W1624781290","https://openalex.org/W1654401488","https://openalex.org/W1898884457","https://openalex.org/W1993660984","https://openalex.org/W2035901470","https://openalex.org/W2036157234","https://openalex.org/W2078643434","https://openalex.org/W2146773805","https://openalex.org/W2164015898","https://openalex.org/W2168205643","https://openalex.org/W2252386276","https://openalex.org/W2320267036","https://openalex.org/W2526808386","https://openalex.org/W2790330483","https://openalex.org/W2894298927","https://openalex.org/W2902198013","https://openalex.org/W2902951428","https://openalex.org/W2954926994","https://openalex.org/W2955318787","https://openalex.org/W2989636751","https://openalex.org/W2992603358","https://openalex.org/W3008874403","https://openalex.org/W3028276158","https://openalex.org/W3127620087","https://openalex.org/W3183479052","https://openalex.org/W4281645444","https://openalex.org/W4283316389","https://openalex.org/W4289885379","https://openalex.org/W4306879197","https://openalex.org/W4309958349","https://openalex.org/W4312095755","https://openalex.org/W4366234687","https://openalex.org/W4377042059","https://openalex.org/W4386906467","https://openalex.org/W4388284411","https://openalex.org/W4403815872","https://openalex.org/W4404118677","https://openalex.org/W4405151975","https://openalex.org/W4405656916","https://openalex.org/W4411155852"],"related_works":["https://openalex.org/W4414801160","https://openalex.org/W2526808386","https://openalex.org/W4312095755","https://openalex.org/W4403815872","https://openalex.org/W4306879197","https://openalex.org/W1980727917","https://openalex.org/W2989636751","https://openalex.org/W3089660547","https://openalex.org/W3199524435","https://openalex.org/W2507698181"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2025-10-10T00:00:00"}
