{"id":"https://openalex.org/W4322719725","doi":"https://doi.org/10.1007/s00439-023-02535-3","title":"TMEM151A variants associated with paroxysmal kinesigenic dyskinesia","display_name":"TMEM151A variants associated with paroxysmal kinesigenic dyskinesia","publication_year":2023,"publication_date":"2023-03-01","ids":{"openalex":"https://openalex.org/W4322719725","doi":"https://doi.org/10.1007/s00439-023-02535-3","pmid":"https://pubmed.ncbi.nlm.nih.gov/36856871"},"language":"en","primary_location":{"id":"doi:10.1007/s00439-023-02535-3","doi":"https://doi.org/10.1007/s00439-023-02535-3","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00439-023-02535-3","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.researchsquare.com/article/rs-2390835/latest.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Hua lin Huang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]},{"id":"https://openalex.org/I4210153856","display_name":"Second Xiangya Hospital of Central South University","ror":"https://ror.org/053v2gh09","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210153856"]},{"id":"https://openalex.org/I4210156904","display_name":"Third Xiangya Hospital","ror":"https://ror.org/05akvb491","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210156904"]},{"id":"https://openalex.org/I4210159865","display_name":"Xiangya Hospital Central South University","ror":"https://ror.org/05c1yfj14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159865"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Hua lin Huang","raw_affiliation_strings":["Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China","Department of Obstetrics and Gynecology, Reproductive Medicine Center, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China","Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China","Department of Obstetrics and Gynecology, Reproductive Medicine Center, The Second Xiangya Hospital, Central South University, Changsha, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210156904","https://openalex.org/I4210159865"]},{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Reproductive Medicine Center, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210153856","https://openalex.org/I4210159865"]},{"raw_affiliation_string":"Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210156904"]},{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Reproductive Medicine Center, The Second Xiangya Hospital, Central South University, Changsha, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210153856","https://openalex.org/I4210159865"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026368749","display_name":"Qing xia Zhang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]},{"id":"https://openalex.org/I4210156904","display_name":"Third Xiangya Hospital","ror":"https://ror.org/05akvb491","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210156904"]},{"id":"https://openalex.org/I4210159865","display_name":"Xiangya Hospital Central South University","ror":"https://ror.org/05c1yfj14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159865"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Qing xia Zhang","raw_affiliation_strings":["Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China","Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210156904","https://openalex.org/I4210159865"]},{"raw_affiliation_string":"Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210156904"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025526333","display_name":"Fei Huang","orcid":"https://orcid.org/0000-0002-5993-6634","observed_orcids":["https://orcid.org/0000-0002-5993-6634"]},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]},{"id":"https://openalex.org/I4210153856","display_name":"Second Xiangya Hospital of Central South University","ror":"https://ror.org/053v2gh09","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210153856"]},{"id":"https://openalex.org/I4210159865","display_name":"Xiangya Hospital Central South University","ror":"https://ror.org/05c1yfj14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159865"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Fei Huang","raw_affiliation_strings":["Department of Obstetrics and Gynecology, Reproductive Medicine Center, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China","Department of Obstetrics and Gynecology, Reproductive Medicine Center, The Second Xiangya Hospital, Central South University, Changsha, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Reproductive Medicine Center, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210153856","https://openalex.org/I4210159865"]},{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Reproductive Medicine Center, The Second Xiangya Hospital, Central South University, Changsha, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210153856","https://openalex.org/I4210159865"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071885201","display_name":"Xiao Long","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]},{"id":"https://openalex.org/I4210159865","display_name":"Xiangya Hospital Central South University","ror":"https://ror.org/05c1yfj14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159865"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiao yan Long","raw_affiliation_strings":["Department of Neurology, The Xiangya Hospital, Central South University, Changsha, Hunan, China","Department of Neurology, The Xiangya Hospital, Central South University, Changsha, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, The Xiangya Hospital, Central South University, Changsha, Hunan, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210159865"]},{"raw_affiliation_string":"Department of Neurology, The Xiangya Hospital, Central South University, Changsha, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210159865"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032731708","display_name":"Zhi Qiang Song","orcid":"https://orcid.org/0000-0003-3742-0570","observed_orcids":["https://orcid.org/0000-0003-3742-0570"]},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]},{"id":"https://openalex.org/I4210156904","display_name":"Third Xiangya Hospital","ror":"https://ror.org/05akvb491","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210156904"]},{"id":"https://openalex.org/I4210159865","display_name":"Xiangya Hospital Central South University","ror":"https://ror.org/05c1yfj14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159865"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Zhi Song","raw_affiliation_strings":["Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China","Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210156904","https://openalex.org/I4210159865"]},{"raw_affiliation_string":"Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210156904"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101433876","display_name":"Bo Xiao","orcid":"https://orcid.org/0000-0003-2328-9997","observed_orcids":["https://orcid.org/0000-0003-2328-9997","https://orcid.org/0000-0001-7341-3963"]},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]},{"id":"https://openalex.org/I4210159865","display_name":"Xiangya Hospital Central South University","ror":"https://ror.org/05c1yfj14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159865"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Bo Xiao","raw_affiliation_strings":["Department of Neurology, The Xiangya Hospital, Central South University, Changsha, Hunan, China","Department of Neurology, The Xiangya Hospital, Central South University, Changsha, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, The Xiangya Hospital, Central South University, Changsha, Hunan, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210159865"]},{"raw_affiliation_string":"Department of Neurology, The Xiangya Hospital, Central South University, Changsha, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210159865"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100404163","display_name":"Guoliang Li","orcid":"https://orcid.org/0000-0003-1601-6640","observed_orcids":["https://orcid.org/0000-0003-1601-6640","https://orcid.org/0009-0004-0601-5542","https://orcid.org/0009-0004-3230-3230"]},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]},{"id":"https://openalex.org/I4210159865","display_name":"Xiangya Hospital Central South University","ror":"https://ror.org/05c1yfj14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159865"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Guo liang Li","raw_affiliation_strings":["Department of Neurology, The Xiangya Hospital, Central South University, Changsha, Hunan, China","Department of Neurology, The Xiangya Hospital, Central South University, Changsha, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, The Xiangya Hospital, Central South University, Changsha, Hunan, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210159865"]},{"raw_affiliation_string":"Department of Neurology, The Xiangya Hospital, Central South University, Changsha, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210159865"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109599720","display_name":"Cai yu","orcid":"https://orcid.org/0000-0002-3682-6096","observed_orcids":["https://orcid.org/0000-0002-3682-6096"]},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]},{"id":"https://openalex.org/I4210156904","display_name":"Third Xiangya Hospital","ror":"https://ror.org/05akvb491","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210156904"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Cai yu Ma","raw_affiliation_strings":["Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China. macaiyu421@163.com","Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China"],"raw_orcid":"https://orcid.org/0000-0002-3682-6096","affiliations":[{"raw_affiliation_string":"Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China. macaiyu421@163.com","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210156904"]},{"raw_affiliation_string":"Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210156904"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5060459808","display_name":"Ding Liu","orcid":"https://orcid.org/0000-0003-2776-1750","observed_orcids":["https://orcid.org/0000-0003-2776-1750"]},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]},{"id":"https://openalex.org/I4210156904","display_name":"Third Xiangya Hospital","ror":"https://ror.org/05akvb491","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210156904"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Ding Liu","raw_affiliation_strings":["Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China. ding.liu@csu.edu.cn","Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China"],"raw_orcid":"https://orcid.org/0000-0003-2776-1750","affiliations":[{"raw_affiliation_string":"Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China. ding.liu@csu.edu.cn","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210156904"]},{"raw_affiliation_string":"Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210156904"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5060459808","https://openalex.org/A5109599720"],"corresponding_institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210156904"],"apc_list":{"value":4690,"currency":"USD","value_usd":4690},"apc_paid":null,"fwci":1.0684,"has_fulltext":false,"cited_by_count":9,"citation_normalized_percentile":{"value":0.73413747,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":96},"biblio":{"volume":"142","issue":"8","first_page":"1017","last_page":"1028"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.322299987077713,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.322299987077713,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10094","display_name":"Epilepsy research and treatment","score":0.2152000069618225,"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/T13966","display_name":"Neurological and metabolic disorders","score":0.06449999660253525,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/paroxysmal-kinesigenic-dyskinesia","display_name":"paroxysmal kinesigenic dyskinesia","score":0.9980000257492065},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.7139999866485596},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8529999852180481},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":0.9779999852180481},{"id":"https://openalex.org/keywords/mrna-degradation","display_name":"mRNA degradation","score":0.8669999837875366},{"id":"https://openalex.org/keywords/dystonia","display_name":"dystonia","score":0.8019999861717224},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.6299999952316284},{"id":"https://openalex.org/keywords/chinese-patients","display_name":"Chinese patients","score":0.593999981880188}],"concepts":[{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.9318116307258606},{"id":"https://openalex.org/C189978740","wikidata":"https://www.wikidata.org/wiki/Q7139584","display_name":"Paroxysmal dyskinesia","level":5,"score":0.8996084928512573},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7701618671417236},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6980772018432617},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.6783806085586548},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6404263377189636},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6105754375457764},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5692740082740784},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.5100710988044739},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4397628605365753},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.32765382528305054},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.26985272765159607},{"id":"https://openalex.org/C2780405171","wikidata":"https://www.wikidata.org/wiki/Q629444","display_name":"Dyskinesia","level":4,"score":0.24910852313041687},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.1886826753616333},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.18364393711090088},{"id":"https://openalex.org/C2779734285","wikidata":"https://www.wikidata.org/wiki/Q11085","display_name":"Parkinson's disease","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D004421","descriptor_name":"Dystonia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D004421","descriptor_name":"Dystonia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1007/s00439-023-02535-3","doi":"https://doi.org/10.1007/s00439-023-02535-3","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00439-023-02535-3","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},{"id":"doi:10.21203/rs.3.rs-2390835/v1","doi":"https://doi.org/10.21203/rs.3.rs-2390835/v1","is_oa":true,"landing_page_url":"https://doi.org/10.21203/rs.3.rs-2390835/v1","pdf_url":"https://www.researchsquare.com/article/rs-2390835/latest.pdf","source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"},{"id":"pmid:36856871","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/36856871","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 genetics","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.21203/rs.3.rs-2390835/v1","doi":"https://doi.org/10.21203/rs.3.rs-2390835/v1","is_oa":true,"landing_page_url":"https://doi.org/10.21203/rs.3.rs-2390835/v1","pdf_url":"https://www.researchsquare.com/article/rs-2390835/latest.pdf","source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G4033815892","display_name":null,"funder_award_id":"81801295","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G4561347524","display_name":null,"funder_award_id":"81501248","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G5902057127","display_name":null,"funder_award_id":"2021RC3031","funder_id":"https://openalex.org/F4320330206","funder_display_name":"Science and Technology Program of Hunan Province"}],"funders":[{"id":"https://openalex.org/F4320321001","display_name":"National Natural Science Foundation of China","ror":"https://ror.org/01h0zpd94"},{"id":"https://openalex.org/F4320321133","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35"},{"id":"https://openalex.org/F4320330206","display_name":"Science and Technology Program of Hunan Province","ror":null}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4322719725.pdf","grobid_xml":"https://content.openalex.org/works/W4322719725.grobid-xml"},"referenced_works_count":34,"referenced_works":["https://openalex.org/W1996191050","https://openalex.org/W2002109801","https://openalex.org/W2003934444","https://openalex.org/W2009757848","https://openalex.org/W2051524933","https://openalex.org/W2051978340","https://openalex.org/W2061298819","https://openalex.org/W2102424043","https://openalex.org/W2120090642","https://openalex.org/W2121413314","https://openalex.org/W2134057323","https://openalex.org/W2156824993","https://openalex.org/W2175680907","https://openalex.org/W2213636741","https://openalex.org/W2214739074","https://openalex.org/W2339627650","https://openalex.org/W2778720395","https://openalex.org/W2790853708","https://openalex.org/W2949860192","https://openalex.org/W3022956677","https://openalex.org/W3093868212","https://openalex.org/W3131054875","https://openalex.org/W3177828909","https://openalex.org/W3201321266","https://openalex.org/W3211795435","https://openalex.org/W3214928006","https://openalex.org/W3216247053","https://openalex.org/W4206046153","https://openalex.org/W4210599014","https://openalex.org/W4224102827","https://openalex.org/W4280546703","https://openalex.org/W4281648758","https://openalex.org/W4283211014","https://openalex.org/W4318274286"],"related_works":["https://openalex.org/W7203458159","https://openalex.org/W4320483708","https://openalex.org/W3216247053","https://openalex.org/W4280546703","https://openalex.org/W4281648758","https://openalex.org/W4318274286","https://openalex.org/W4210599014","https://openalex.org/W4413475875","https://openalex.org/W4283211014","https://openalex.org/W4321787421"],"abstract_inverted_index":{"Abstract":[0],"TMEM151A,":[1],"located":[2],"at":[3],"11q13.2":[4],"and":[5,28,35,47,57,65,77,135,140,172,189,203],"encoding":[6],"transmembrane":[7],"protein":[8],"151A,":[9],"was":[10,70,88],"recently":[11],"reported":[12,105],"as":[13],"causative":[14],"for":[15],"autosomal":[16],"dominant":[17],"paroxysmal":[18],"kinesigenic":[19],"dyskinesia":[20],"(PKD).":[21],"Here,":[22],"through":[23],"comprehensive":[24],"analysis":[25],"of":[26,38,50,95,163,183,210],"sporadic":[27,74],"familial":[29,79],"cases,":[30],"we":[31,43],"expand":[32],"the":[33,45,60,92,196,208],"clinical":[34,46,181],"mutation":[36,125,151],"spectrum":[37],"PKD.":[39,66,211],"In":[40],"doing":[41],"so,":[42],"clarify":[44],"genetic":[48],"features":[49],"Chinese":[51],"PKD":[52,75,80,101,184],"patients":[53,76,185],"harboring":[54],"TMEM151A":[55,63,98,103,111,155,167,187,201],"variants":[56,104,112,168],"further":[58,205],"explore":[59],"relationship":[61],"between":[62],"mutations":[64,130,188,202],"Whole":[67],"exome":[68],"sequencing":[69],"performed":[71],"on":[72],"26":[73],"nine":[78],"pedigrees":[81],"without":[82],"PRRT2":[83],"variants.":[84],"Quantitative":[85],"real-time":[86],"PCR":[87],"used":[89],"to":[90,106],"assess":[91],"gene":[93],"expression":[94],"frameshift":[96,124,150],"mutant":[97],"in":[99,115],"a":[100,123,141,159,179,191],"patient.":[102],"date":[107],"were":[108,113],"reviewed.":[109],"Four":[110],"detected":[114],"four":[116],"unrelated":[117],"families":[118],"with":[119,166,174,186],"12":[120],"individuals,":[121],"including":[122],"[c.606_607insA":[126],"(p.Val203fs)],":[127],"two":[128],"missense":[129],"[c.166G":[131],">":[132,137,145],"A":[133,146],"(p.Gly56Arg)":[134],"c.791T":[136],"C":[138],"(p.Val264Ala)],":[139],"non-pathogenic":[142],"variant":[143],"[c.994G":[144],"(p.Gly332Arg)].":[147],"The":[148],"monoallelic":[149],"(c.606_607insA)":[152],"may":[153],"cause":[154],"mRNA":[156],"decay,":[157],"suggesting":[158],"potential":[160],"pathogenic":[161],"mechanism":[162],"haploinsufficiency.":[164],"Patients":[165],"had":[169],"short-duration":[170],"attacks":[171],"presented":[173],"dystonia.":[175],"Our":[176],"study":[177],"provides":[178],"detailed":[180],"description":[182],"reports":[190],"new":[192],"disease-causing":[193],"mutation,":[194],"expanding":[195],"known":[197],"phenotypes":[198],"caused":[199],"by":[200],"providing":[204],"detail":[206],"about":[207],"pathoetiology":[209]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2023-03-03T00:00:00"}