{"id":"https://openalex.org/W2275708487","doi":"https://doi.org/10.1002/humu.22959","title":"DGAT2Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease","display_name":"DGAT2Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease","publication_year":2016,"publication_date":"2016-01-20","ids":{"openalex":"https://openalex.org/W2275708487","doi":"https://doi.org/10.1002/humu.22959","mag":"2275708487","pmid":"https://pubmed.ncbi.nlm.nih.gov/26786738"},"language":"en","primary_location":{"id":"doi:10.1002/humu.22959","doi":"https://doi.org/10.1002/humu.22959","is_oa":false,"landing_page_url":"https://doi.org/10.1002/humu.22959","pdf_url":null,"source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","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/A5101478663","display_name":"Young Bin Hong","orcid":"https://orcid.org/0000-0002-4333-3847","observed_orcids":["https://orcid.org/0000-0002-4333-3847"]},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Young Bin Hong","raw_affiliation_strings":["Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, Seoul, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, Seoul, South Korea","institution_ids":["https://openalex.org/I2802194831"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Junghee Kang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Junghee Kang","raw_affiliation_strings":["Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, South Korea","institution_ids":["https://openalex.org/I848706"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100443862","display_name":"Ji Hyun Kim","orcid":"https://orcid.org/0000-0003-0861-2792","observed_orcids":["https://orcid.org/0000-0003-0861-2792","https://orcid.org/0000-0001-8477-0157","https://orcid.org/0000-0002-4746-5572"]},"institutions":[{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Ji Hyun Kim","raw_affiliation_strings":["Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, South Korea","institution_ids":["https://openalex.org/I848706"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100447633","display_name":"Jinho Lee","orcid":"https://orcid.org/0000-0003-4010-6611","observed_orcids":["https://orcid.org/0000-0003-4010-6611"]},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Jinho Lee","raw_affiliation_strings":["Department of Health Sciences and Technology, SAIHST; Sungkyunkwan University; Seoul South Korea","Neuroscience center, Samsung Medical Center, Seoul, South Korea","SGI; Samsung Medical Center; Seoul South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Sciences and Technology, SAIHST; Sungkyunkwan University; Seoul South Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Neuroscience center, Samsung Medical Center, Seoul, South Korea","institution_ids":["https://openalex.org/I2802194831"]},{"raw_affiliation_string":"SGI; Samsung Medical Center; Seoul South Korea","institution_ids":["https://openalex.org/I2802194831"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073060868","display_name":"Geon Kwak","orcid":"https://orcid.org/0000-0001-6291-3727","observed_orcids":["https://orcid.org/0000-0001-6291-3727"]},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Geon Kwak","raw_affiliation_strings":["Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, South Korea","Neuroscience center, Samsung Medical Center, Seoul, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, South Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Neuroscience center, Samsung Medical Center, Seoul, South Korea","institution_ids":["https://openalex.org/I2802194831"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083921157","display_name":"Young Se Hyun","orcid":"https://orcid.org/0000-0002-0355-4055","observed_orcids":["https://orcid.org/0000-0002-0355-4055"]},"institutions":[{"id":"https://openalex.org/I206597221","display_name":"Kongju National University","ror":"https://ror.org/0373nm262","country_code":"KR","type":"education","lineage":["https://openalex.org/I206597221"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Young Se Hyun","raw_affiliation_strings":["Department of Biological Sciences, Kongju National University, Gongju, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Sciences, Kongju National University, Gongju, South Korea","institution_ids":["https://openalex.org/I206597221"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081630671","display_name":"Soo Hyun Nam","orcid":"https://orcid.org/0000-0003-4421-1793","observed_orcids":["https://orcid.org/0000-0003-4421-1793"]},"institutions":[{"id":"https://openalex.org/I206597221","display_name":"Kongju National University","ror":"https://ror.org/0373nm262","country_code":"KR","type":"education","lineage":["https://openalex.org/I206597221"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Soo Hyun Nam","raw_affiliation_strings":["Department of Biological Sciences, Kongju National University, Gongju, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Sciences, Kongju National University, Gongju, South Korea","institution_ids":["https://openalex.org/I206597221"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100907101","display_name":"Hyun Dae Hong","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I206597221","display_name":"Kongju National University","ror":"https://ror.org/0373nm262","country_code":"KR","type":"education","lineage":["https://openalex.org/I206597221"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Hyun Dae Hong","raw_affiliation_strings":["Department of Biological Sciences, Kongju National University, Gongju, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Sciences, Kongju National University, Gongju, South Korea","institution_ids":["https://openalex.org/I206597221"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109897724","display_name":"Yu\u2010Ri Choi","orcid":"https://orcid.org/0009-0006-1874-4106","observed_orcids":["https://orcid.org/0009-0006-1874-4106"]},"institutions":[{"id":"https://openalex.org/I138925566","display_name":"Ewha Womans University","ror":"https://ror.org/053fp5c05","country_code":"KR","type":"education","lineage":["https://openalex.org/I138925566"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Yu-Ri Choi","raw_affiliation_strings":["Department of Biochemistry, Ewha Womans University School of Medicine, Seoul, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, Ewha Womans University School of Medicine, Seoul, South Korea","institution_ids":["https://openalex.org/I138925566"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031979012","display_name":"Sung\u2010Chul Jung","orcid":"https://orcid.org/0000-0002-3174-8965","observed_orcids":["https://orcid.org/0000-0002-3174-8965"]},"institutions":[{"id":"https://openalex.org/I138925566","display_name":"Ewha Womans University","ror":"https://ror.org/053fp5c05","country_code":"KR","type":"education","lineage":["https://openalex.org/I138925566"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Sung-Chul Jung","raw_affiliation_strings":["Department of Biochemistry, Ewha Womans University School of Medicine, Seoul, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, Ewha Womans University School of Medicine, Seoul, South Korea","institution_ids":["https://openalex.org/I138925566"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110103403","display_name":"Heasoo Koo","orcid":"https://orcid.org/0000-0002-3240-1410","observed_orcids":["https://orcid.org/0000-0002-3240-1410"]},"institutions":[{"id":"https://openalex.org/I138925566","display_name":"Ewha Womans University","ror":"https://ror.org/053fp5c05","country_code":"KR","type":"education","lineage":["https://openalex.org/I138925566"]},{"id":"https://openalex.org/I4405258598","display_name":"Ewha Womans University Mokdong Hospital","ror":"https://ror.org/00ypk0v12","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I138925566","https://openalex.org/I4210132203","https://openalex.org/I4405258598"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Heasoo Koo","raw_affiliation_strings":["Department of Pathology, Ewha Womans University School of Medicine, Mokdong Hospital, Seoul, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Ewha Womans University School of Medicine, Mokdong Hospital, Seoul, South Korea","institution_ids":["https://openalex.org/I138925566","https://openalex.org/I4405258598"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Ji Eun Lee","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR"],"is_corresponding":true,"raw_author_name":"Ji Eun Lee","raw_affiliation_strings":["Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, South Korea","Neuroscience center; Samsung Medical Center; Seoul South Korea","SGI, Samsung Medical Center, Seoul, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, South Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Neuroscience center; Samsung Medical Center; Seoul South Korea","institution_ids":["https://openalex.org/I2802194831"]},{"raw_affiliation_string":"SGI, Samsung Medical Center, Seoul, South Korea","institution_ids":["https://openalex.org/I2802194831"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038098536","display_name":"Byung\u2010Ok Choi","orcid":"https://orcid.org/0000-0001-5459-1772","observed_orcids":["https://orcid.org/0000-0001-5459-1772"]},"institutions":[{"id":"https://openalex.org/I2802194831","display_name":"Samsung Medical Center","ror":"https://ror.org/05a15z872","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2250650973","https://openalex.org/I2802194831"]},{"id":"https://openalex.org/I848706","display_name":"Sungkyunkwan University","ror":"https://ror.org/04q78tk20","country_code":"KR","type":"education","lineage":["https://openalex.org/I848706"]}],"countries":["KR"],"is_corresponding":true,"raw_author_name":"Byung-Ok Choi","raw_affiliation_strings":["Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, South Korea","Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, South Korea","Neuroscience center, Samsung Medical Center, Seoul, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, South Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, South Korea","institution_ids":["https://openalex.org/I848706"]},{"raw_affiliation_string":"Neuroscience center, Samsung Medical Center, Seoul, South Korea","institution_ids":["https://openalex.org/I2802194831"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5066418771","display_name":"Ki Wha Chung","orcid":"https://orcid.org/0000-0003-0363-8432","observed_orcids":["https://orcid.org/0000-0003-0363-8432"]},"institutions":[{"id":"https://openalex.org/I206597221","display_name":"Kongju National University","ror":"https://ror.org/0373nm262","country_code":"KR","type":"education","lineage":["https://openalex.org/I206597221"]}],"countries":["KR"],"is_corresponding":true,"raw_author_name":"Ki Wha Chung","raw_affiliation_strings":["Department of Biological Sciences, Kongju National University, Gongju, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Sciences, Kongju National University, Gongju, South Korea","institution_ids":["https://openalex.org/I206597221"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5038098536","https://openalex.org/A5066418771"],"corresponding_institution_ids":["https://openalex.org/I206597221","https://openalex.org/I2802194831","https://openalex.org/I848706"],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":null,"fwci":2.1705,"has_fulltext":false,"cited_by_count":50,"citation_normalized_percentile":{"value":0.85943653,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"37","issue":"5","first_page":"473","last_page":"480"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":1.0,"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/T11735","display_name":"Peripheral Neuropathies and Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T11752","display_name":"Cancer Treatment and Pharmacology","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/charcot-marie-tooth-disease","display_name":"Charcot-Marie-Tooth disease","score":0.890999972820282},{"id":"https://openalex.org/keywords/dgat2","display_name":"DGAT2","score":0.824999988079071},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.6890000104904175},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.6769999861717224},{"id":"https://openalex.org/keywords/triacylglycerol-biosynthesis","display_name":"triglyceride synthesis","score":0.921999990940094},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.6669999957084656},{"id":"https://openalex.org/keywords/axonal-branching","display_name":"axon branching","score":0.8820000290870667},{"id":"https://openalex.org/keywords/zebrafish","display_name":"zebrafish","score":0.7670000195503235},{"id":"https://openalex.org/keywords/peripheral-neuropathy","display_name":"peripheral neuropathy","score":0.722000002861023},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.6439999938011169}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.909229576587677},{"id":"https://openalex.org/C2910134782","wikidata":"https://www.wikidata.org/wiki/Q5259414","display_name":"Tooth disease","level":3,"score":0.7877914309501648},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5970525145530701},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5573630332946777},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4913243353366852},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.18545788526535034},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17286798357963562},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.05224192142486572}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001369","descriptor_name":"Axons","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001369","descriptor_name":"Axons","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","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":"D009046","descriptor_name":"Motor Neurons","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D009046","descriptor_name":"Motor Neurons","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015027","descriptor_name":"Zebrafish","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D029961","descriptor_name":"Zebrafish Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D029961","descriptor_name":"Zebrafish Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D049109","descriptor_name":"Cell Proliferation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051048","descriptor_name":"Diacylglycerol O-Acyltransferase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051048","descriptor_name":"Diacylglycerol O-Acyltransferase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/humu.22959","doi":"https://doi.org/10.1002/humu.22959","is_oa":false,"landing_page_url":"https://doi.org/10.1002/humu.22959","pdf_url":null,"source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},{"id":"pmid:26786738","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26786738","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":"Human mutation","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8999999761581421}],"study_designs":[],"awards":[{"id":"https://openalex.org/G4307710479","display_name":null,"funder_award_id":"2014R1A2A2A01004240","funder_id":"https://openalex.org/F4320320671","funder_display_name":"National Research Foundation"},{"id":"https://openalex.org/G6167241666","display_name":null,"funder_award_id":"2014R1A2A2A01003164","funder_id":"https://openalex.org/F4320320671","funder_display_name":"National Research Foundation"},{"id":"https://openalex.org/G7213423815","display_name":null,"funder_award_id":"2013R1A1A1059056","funder_id":"https://openalex.org/F4320320671","funder_display_name":"National Research Foundation"}],"funders":[{"id":"https://openalex.org/F4320320671","display_name":"National Research Foundation","ror":"https://ror.org/05s0g1g46"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":35,"referenced_works":["https://openalex.org/W1556198965","https://openalex.org/W1965759164","https://openalex.org/W1973186908","https://openalex.org/W1989340047","https://openalex.org/W1995775084","https://openalex.org/W2001430270","https://openalex.org/W2007637618","https://openalex.org/W2011185005","https://openalex.org/W2018347978","https://openalex.org/W2020176916","https://openalex.org/W2027842776","https://openalex.org/W2028992961","https://openalex.org/W2034939856","https://openalex.org/W2037089513","https://openalex.org/W2046439284","https://openalex.org/W2054600904","https://openalex.org/W2069899344","https://openalex.org/W2070098406","https://openalex.org/W2088299460","https://openalex.org/W2093773256","https://openalex.org/W2117939646","https://openalex.org/W2119423333","https://openalex.org/W2120848776","https://openalex.org/W2123619581","https://openalex.org/W2126779593","https://openalex.org/W2134586609","https://openalex.org/W2136238917","https://openalex.org/W2138956168","https://openalex.org/W2142627450","https://openalex.org/W2145847001","https://openalex.org/W2146003518","https://openalex.org/W2149037653","https://openalex.org/W2168874824","https://openalex.org/W2418952719","https://openalex.org/W4238895250"],"related_works":["https://openalex.org/W2107146780","https://openalex.org/W2052213091","https://openalex.org/W2079392730","https://openalex.org/W1588855229","https://openalex.org/W2068418414","https://openalex.org/W2104336192","https://openalex.org/W1558172913","https://openalex.org/W2126032677","https://openalex.org/W2007630026","https://openalex.org/W1987756669"],"abstract_inverted_index":{"Charcot-Marie-Tooth":[0],"disease":[1,39],"(CMT)":[2],"is":[3,11,127],"the":[4,54,71,75,91,96,104,111,115,128,147,155],"most":[5],"common":[6],"inherited":[7],"peripheral":[8,116,159],"neuropathy":[9],"and":[10,14,37,43,88,152],"a":[12,20,47,143],"genetically":[13],"clinically":[15],"heterogeneous":[16],"disorder.":[17],"We":[18,121],"examined":[19],"Korean":[21],"family":[22],"in":[23,53,114],"which":[24,69],"two":[25],"individuals":[26],"had":[27],"an":[28,62,133],"autosomal-dominant":[29,134],"axonal":[30,112,135,150],"CMT":[31,151],"with":[32],"early-onset,":[33],"sensory":[34],"ataxia,":[35],"tremor,":[36],"slow":[38],"progression.":[40],"Pedigree":[41],"analysis":[42],"exome":[44],"sequencing":[45],"identified":[46],"de":[48],"novo":[49],"missense":[50],"mutation":[51,124],"(p.Y223H)":[52],"diacylglycerol":[55],"O-acyltransferase":[56],"2":[57],"(DGAT2)":[58],"gene.":[59],"DGAT2":[60,93,109,126],"encodes":[61],"endoplasmic":[63],"reticulum-mitochondrial-associated":[64],"membrane":[65],"protein,":[66],"acyl-CoA:diacylglycerol":[67],"acyltransferase,":[68],"catalyzes":[70],"final":[72],"step":[73],"of":[74,90,98,107,119,125,132,146,149,158],"triglyceride":[76],"(TG)":[77],"biosynthesis":[78],"pathway.":[79],"The":[80],"patient":[81],"showed":[82],"consistently":[83],"decreased":[84],"serum":[85],"TG":[86],"levels,":[87],"overexpression":[89],"mutant":[92],"significantly":[94],"inhibited":[95,110],"proliferation":[97],"mouse":[99],"motor":[100],"neuron":[101],"cells.":[102],"Moreover,":[103],"variant":[105],"form":[106],"human":[108],"branching":[113],"nervous":[117],"system":[118],"zebrafish.":[120],"suggest":[122],"that":[123],"novel":[129],"underlying":[130],"cause":[131],"CMT2":[136],"neuropathy.":[137],"This":[138],"study":[139],"will":[140],"help":[141],"provide":[142],"better":[144],"understanding":[145],"pathophysiology":[148],"contribute":[153],"to":[154],"molecular":[156],"diagnostics":[157],"neuropathies.":[160]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":2}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}